Disease Specific Tests

[vc_row][vc_column][vc_column_text]

Following is the list of genetic conditions that we can currently test for. Click on each one for further information (this is primarily for your physician). It may be possible to test for specicidic diagnositic test for other genetic conditions not in the list given below. If the conditioon you are looking for does not appear below, please contact us for more information.

[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column][vc_accordion active_tab=”false”][vc_accordion_tab title=”Methylbutyryl Glycinuria”][vc_column_text]Condition Gene/ Varient
Methylbutyryl   Gene:HMGCL. Exons: NM_000191.2:1-9. Variants(2): c.835G>A

Glycinuria  c.122G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hydroxy-3-methylglutaryl-CoA lyase deficiency”][vc_column_text]Condition Gene/Varient
Hydroxy-3-methylglutaryl-CoA lyase deficiency Gene:HMGCL. Exons: NM_000191.2:1-9. Variants(2): c.835G>A, c.122G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hydroxyisobutryl-CoA Hydrolase Deficiency”][vc_column_text]Condition Gene/Varient
Hydroxyisobutryl-CoA Hydrolase Deficiency Gene:HIBCH. Exons: NM_014362.3:1-14. Variants(3): c.365A>G, c.220-9T>G, c.79- 3C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Methylcrotonyl-CoA Carboxylase 1 Deficiency”][vc_column_text]Condition Gene/Varient
Methylcrotonyl-CoA Carboxylase 1 Deficiency Gene:MCCC1. Exons: NM_020166.3:1-19. Variants(4): c.1310T>C, c.2079delA, c.1594G>C, c.1380T>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Methylcrotonyl-CoA Carboxylase 2 Deficiency”][vc_column_text]Condition Gene/Varient
Methylcrotonyl-CoA Carboxylase 2 Deficiency Gene:MCCC2. Exons: NM_022132.4:1-17. Variants(7): c.464G>A, c.295G>C, c.517_518insT, c.929C>G, c.1015G>A, c.803G>C, c.838G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Methylglutaconic Aciduria Type 1″][vc_column_text]Condition Gene/Varient
Methylglutaconic Aciduria Type 1 Gene:AUH. Exons: NM_001698.2:1-10. Variants(5): c.589C>T, c.559G>A, c.991A>T, c.895- 1G>A, c.650G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Methylglutaconic Aciduria Type 31″][vc_column_text]Condition Gene/Varient
Methylglutaconic Aciduria Type 3 Gene:OPA3. Exons: NM_025136.3:1-2. Variants(1): c.143-1G>C 3[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Methylglutaconic Aciduria Type 5″][vc_column_text]Condition Gene/Varient
Methylglutaconic Aciduria Type 5 Gene:DNAJC19. Exons: NM_145261.3:1-6. Variants(1): c.130-1G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”ABCC8-Related Congenital Hyperinsulinism”][vc_column_text]Condition Gene/Varient
ABCC8-Related Congenital Hyperinsulinism Gene:ABCC8. Exons: NM_000352.3:1-39. Variants(5): c.3989-9G>A, c.560T>A, c.2147G>T, c.4160_4162delTCT, c.4307G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”ABCD Syndrome”][vc_column_text]Condition Gene/Varient
ABCD Syndrome Gene:EDNRB. Exons: NM_000115.3:2-8. Variants(1): c.601C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Abetalipoproteinemia”][vc_column_text]Condition Gene/Varient
Abetalipoproteinemia Gene:MTTP. Exons: NM_000253.2:2-19. Variants(3): c.1769G>T, c.1619G>A, c.2593G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”ACAD9 deficiency”][vc_column_text]Condition Gene/Varient
ACAD9 deficiency Gene:ACAD9. Exons: NM_014049.4:1-18. Variants(4): c.1594C>T, c.130T>A, c.1249C>T, c.797G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”ACE-Related Renal Tubular Dysgenesis”][vc_column_text]Condition Gene/Varient
ACE-Related Renal Tubular Dysgenesis Gene:ACE. Exons: NM_000789.3:2-25. Variants(4): c.1486C>T, c.1319_1322delTGGA, c.798C>G, c.2371C>T A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Achondrogenesis Type 1B”][vc_column_text]Condition Gene/Varient
Achondrogenesis Type 1B Gene:SLC26A2. Exons: NM_000112.3:2-3. Variants(4): c.1020_1022delTGT, c.1273A>G, c.532C>T, c.2033G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Acrocallosal Syndrome”][vc_column_text]Condition Gene/Varient
Acrocallosal Syndrome Gene:KIF7. Exons: NM_198525.2:2-4,6-19. Variants(3): c.687delG, c.3001C>T, c.460C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Acyl-CoA Dehydrogenase Deficiency,Medium-Chain”][vc_column_text]Condition Gene/Varient
Acyl-CoA Dehydrogenase Deficiency,Medium-Chain Gene:ACADM. Exons: NM_000016.4:1-12. Variants(2): c.199T>C, c.985A>G Acyl-CoA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Dehydrogenase Deficiency,Very Long-Chain”][vc_column_text]Condition Gene/Varient
Dehydrogenase Deficiency,Very Long-Chain Gene:ACADVL. Exons: NM_000018.3:1-20. Variants(3): c.779C>T, c.848T>C, c.1322G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Adenosine Deaminase Deficiency”][vc_column_text]Condition Gene/Varient
Adenosine Deaminase Deficiency Gene:ADA. Exons: NM_000022.2:2-12. Variants(4): c.632G>A, c.226C>T, c.986C>T, c.320T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”AGTR1-Related Renal Tubular Dysgenesis”][vc_column_text]Condition Gene/Varient
AGTR1-Related Renal Tubular Dysgenesis Deficiency Gene:AGTR1. Exons: NM_031850.3:3-4. Variants(1): c.215dupT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”AGT-Related Renal Tubular Dysgenesis”][vc_column_text]Condition Gene/Varient
AGT-Related Renal Tubular Dysgenesis Gene:AGT. Exons: NM_000029.3:2-5. Variants(2): c.604C>T, c.1290delT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Aicardi-goutières Syndrome 1″][vc_column_text]Condition Gene/Varient
Aicardi-goutières Syndrome 1 Gene:TREX1. Exons: NM_033629.3:2. Variants(2): c.490C>T, c.341G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”AICA-ribosiduria due to ATIC deficiency”][vc_column_text]Condition Gene/Varient
AICA-ribosiduria due to ATIC deficiency Gene:ATIC. Exons: NM_004044.6:2-16. Variants(1): c.1277A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Alkaptonuria”][vc_column_text]Condition Gene/Varient
Alkaptonuria Gene:HGD. Exons: NM_000187.3:1-14. Variants(11): c.688C>T, c.457_458insG, c.1111_1112insC, c.342+1G>A, c.808G>A, c.899T>G, c.175delA, c.1102A>G, c.360T>G, c.16-1G>A, c.481G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Alpha-Mannosidosis”][vc_column_text]Condition Gene/Varient
Alpha-Mannosidosis Gene:MAN2B1. Exons: NM_000528.3:1-24. Variants(7): c.215A>T, c.1067C>G, c.1830+1G>C, c.1915C>T, c.2278C>T, c.2426T>C, c.2248C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Alpha-Methylacyl-CoA Racemase Deficiency”][vc_column_text]Condition Gene/Varient
Alpha-Methylacyl-CoA Racemase Deficiency Gene:AMACR. Exons: NM_014324.5:1-5. Variants(1): c.154T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Alpha-thalassemia”][vc_column_text]Condition Gene/Varient
Alpha-thalassemia Gene:HBA1/HBA2. Variants(5): aa/-a3.7, aa/-a4.2, aa/-aSEA, aa/-aFIL, aa/-aTHAI[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Alstrom Syndrome”][vc_column_text]Condition Gene/Varient
Alstrom Syndrome Gene:ALMS1. Exons: NM_015120.4:2-23. Variants(6): c.11449C>T, c.11316_11319delAGAG, c.8164C>T, c.8383C>T, c.10775delC, c.10483C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”AMT-Related Glycine Encephalopathy”][vc_column_text]Condition Gene/Varient
AMT-Related Glycine Encephalopathy Gene:AMT. Exons: NM_000481.3:1-9. Variants(3): c.125A>G, c.139G>A, c.959G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Androgen Insensitivity Syndrome”][vc_column_text]Condition Gene/Varient
Androgen Insensitivity Syndrome Gene:AR. Exons: NM_000044.3:2-8. Variants(10): c.2650A>T, c.1769-11T>A, c.521T>G, c.2395C>G, c.340C>T, c.4G>A, c.1771A>T, c.2391G>A, c.2567G>A, c.2157G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Arginase Deficiency”][vc_column_text]Condition Gene/Varient
Arginase Deficiency Gene:ARG1. Exons: NM_000045.3:1-8. Variants(7): c.365G>A, c.871C>T, c.703G>C, c.413G>T, c.32T>C, c.869C>G, c.61C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Argininosuccinic Aciduria”][vc_column_text]Condition Gene/Varient
Argininosuccinic Aciduria Gene:ASL. Exons: NM_000048.3:2-17. Variants(8): c.35G>A, c.1060C>T, c.857A>G, c.1135C>T, c.532G>A, c.346C>T, c.1153C>T, c.283C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Aromatic L-Amino Acid Decarboxylase Deficiency”][vc_column_text]Condition Gene/Varient
Aromatic L-Amino Acid Decarboxylase Deficiency Gene:DDC. Exons: NM_000790.3:2-14. Variants(2): c.749C>T, c.304G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Arthrogryposis-Renal Dysfunction-Cholestasis 1″][vc_column_text]Condition Gene/Varient
Arthrogryposis-Renal Dysfunction-Cholestasis 1 Gene:VPS33B. Exons: NM_018668.3:1-23. Variants(3): c.1594C>T, c.89T>C, c.1312C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Aspartylglucosaminuria”][vc_column_text]Condition Gene/Varient
Aspartylglucosaminuria Gene:AGA. Exons: NM_000027.3:1-9. Variants(5): c.302C>T, c.488G>C, c.214T>C, c.904G>A, c.800dupT
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ataxia With Oculomotor Apraxia Type 1″][vc_column_text]Condition Gene/Varient
Ataxia With Oculomotor Apraxia Type 1 Gene:APTX. Exons: NM_175073.2:3-9. Variants(7): c.837G>A, c.875-1G>A, c.788T>G, c.602A>G, c.167delT, c.320delC, c.617C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ataxia With Oculomotor Apraxia Type 2″][vc_column_text]Condition Gene/Varient
Ataxia With Oculomotor Apraxia Type 2 Gene:SETX. Exons: NM_015046.5:3-26. Variants(7): c.6638C>T, c.3880C>T, c.5927T>G, c.1027G>T, c.994C>T, c.2602C>T, c.4087C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ataxia With Vitamin E Deficiency”][vc_column_text]Condition Gene/Varient
Ataxia With Oculomotor Apraxia Type 2 Gene:TTPA. Exons: NM_000370.3:25. Variants(5): c.485delG, c.513_514insTT, c.400C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ataxia, Posterior Column, With Retinitis Pigmentosa”][vc_column_text]Condition Gene/Varient
Ataxia, Posterior Column, With Retinitis Pigmentosa Gene:FLVCR1. Exons: NM_014053.3:1-10. Variants(4): c.1477G>C, c.721G>A, c.361A>G, c.574T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ataxia-telangiectasia”][vc_column_text]Condition Gene/Varient
Ataxia-telangiectasia Gene:ATM. Exons: NM_000051.3:2-63. Variants(11): c.7517_7520delGAGA, c.7967T>C, c.8030A>G, c.9139C>T, c.8480T>G, c.3245_3247delATCinsTGAT, c.103C>T, c.7875_7876delTGinsGC, c.5932G>T, c.5908C>T, c.3576G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Atelosteogenesis Type 2″][vc_column_text]Condition Gene/Varient
Atelosteogenesis Type 2 Gene:SLC26A2. Exons: NM_000112.3:2-3. Variants(4): c.1535C>A, c.835C>T, c.764G>A, c.2144C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”ATP7A-Related Copper Transport Disorders”][vc_column_text]Condition Gene/Varient
ATP7A-Related Copper Transport Disorders Gene:ATP7A. Exons: NM_000052.5:2-23. Variants(7): c.3911A>G, c.601C>T, c.1910C>T, c.2938C>T, c.4156C>T, c.2981C>T, c.3056G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autoimmune Polyendocrine Syndrome Type 1″][vc_column_text]Condition Gene/Varient
Autoimmune Polyendocrine Syndrome Type 1 Gene:AIRE. Exons: NM_000383.3:1-11,13-14. Variants(8): c.239T>G, c.1103_1104insC, c.247A>G, c.415C>T, c.1513delG, c.769C>T, c.254A>G, c.789delC
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 12″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 12 Gene:CDH23. Exons: NM_022124.5:2-70. Variants(5): c.4021G>A, c.719C>T, c.902G>A, c.6442G>A, c.5663T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 1A”][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 1A Gene:GJB2. Exons: NM_004004.5:2. Variants(58): c.340G>T, c.195C>G, c.134G>A, c.71G>A, c.533T>C, c.231G>A, c.56G>C, c.139G>T, c.416G>A, c.647_650delGATA, c.427C>T, c.35_36insC, c.268C>G, c.59T>C, c.358_360delGAG, c.269T>C, c.476A>T, c.617A>G, c.299_300delAT, c.334_335delAA, c.641T>C, c.408C>A, c.370C>T, c.638T>A, c.290_291insT, c.229T>C, c.398G>A, c.230G>A, c.614T>C, c.132G>A, c.283G>A, c.550C>T, c.523C>A, c.167delT, c.633T>A, c.44A>C, c.504_505insCCTT, c.572delT, c.94C>T, c.246C>G, c.508_509insT, c.169C>T, c.250G>C, c.119C>A, c.508_511dupAACG, c.428G>A, c.176_191delGCTGCAAGAACGTGTG, c.363delC, c.279G>A, c.516G>A, c.148G>A, c.439G>A, c.235delC, c.270dupA, c.518C>G, c.598G>A, c.1A>G, c.35delG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 2″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 2 Gene:MYO7A. Exons: NM_000260.3:2-49. Variants(5): c.1797G>A, c.133-2A>G, c.1184G>A, c.731G>C, c.3596dupT
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 21″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 21 Gene:TECTA. Exons: NM_005422.2:1-23. Variants(3): c.6037delG, c.2941+1G>A, c.651_652insC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 22″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 22 Gene:OTOA. Exons: NM_144672.3:1-19. Variants(1): c.1320+2T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 23″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 23 Gene:PCDH15. Exons: NM_033056.3:2-33. Variants(3): c.785G>A, c.400C>G, c.1583T>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 24″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 24 Gene:RDX. Exons: NM_002906.3:2-14. Variants(3): c.1405dupG, c.1732G>A, c.463C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 25″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 25 Gene:GRXCR1. Exons: NM_001080476.2:1-4. Variants(4): c.628-9C>A, c.412C>T, c.627+19A>T, c.229C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 28″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 28 Gene:TRIOBP. Exons: NM_001039141.2:3-6,8-17,19,21-23. Variants(6): c.3349C>T, c.1039C>T, c.2362C>T, c.1741C>T, c.889C>T, c.3202C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 29″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 29 Gene:CLDN14. Exons: NM_144492.2:3. Variants(3): c.254T>A, c.398delT, c.301G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 3″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 3 Gene:MYO15A. Exons: NM_016239.3:3-66. Variants(9): c.10573delA, c.8789-1G>C, c.5492G>T, c.3313G>T, c.3336delG, c.9958_9961delGACT, c.3756+1G>T, c.8148G>T, c.3685C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 30″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 30 Gene:MYO3A. Exons: NM_017433.4:3-35. Variants(3): c.1777-12G>A, c.732-2A>G, c.3129T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 35″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 35 Gene:ESRRB. Exons: NM_004452.3:4-11. Variants(2): c.1018_1024dupGAGTTTG, c.1024G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 37″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 37 Gene:MYO6. Exons: NM_004999.3:2-35. Variants(3): c.647A>T, c.3496C>T, c.36dupT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 39″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 39 Gene:HGF. Exons: NM_000601.4:1-18. Variants(1): c.495G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct”][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct Gene:SLC26A4. Exons: NM_000441.1:3-21. Variants(94): c.1803G>A, c.2219G>T, c.1334T>G, c.1341+1delG, c.322delC, c.919-2A>G, c.2228T>A, c.1595G>T, c.916dupG, c.170C>A, c.1863delT, c.2168A>G, c.941C>A, c.1001+1G>A, c.281C>T, c.783_784insT, c.754T>C, c.2089+1G>A, c.440T>C, c.1160C>T, c.415+7A>G, c.1226G>A, c.1151A>G, c.1614+1G>A, c.2027T>A, c.1337A>G, c.1363A>T, c.1172G>A, c.2343A>G, c.1707+5G>A, c.589G>A, c.1246A>C, c.1409G>A, c.2173G>C, c.753_756delCTCT, c.1174A>T, c.365_366insT, c.304G>A, c.1198delT, c.1343C>T, c.707T>C, c.1588T>C, c.1229C>T, c.1615-1G>A, c.1975G>C, c.397T>A, c.626G>T, c.2080T>C, c.233A>G, c.1919G>A, c.395C>T, c.1105A>G, c.1541A>G, c.1589A>C, c.1149+3A>G, c.1079C>T, c.2127delT, c.2086C>T, c.1147delC, c.946G>T, c.-3-2A>G, c.230A>T, c.1392delG, c.1264-1G>C, c.165-1G>A, c.412G>T, c.716T>A, c.1667A>G, c.601-1G>A, c.918+1G>A, c.279T>A, c.1439T>A, c.2162C>T, c.1694G>A, c.1334_1335insAGTC, c.1371C>A, c.235C>T, c.2170G>A, c.407_411delTCTCA, c.2015G>A, c.665G>T, c.1985G>A, c.249G>A, c.269C>T, c.1536_1537delAG, c.890delC, c.2186T>C, c.279delT, c.129dupC, c.149T>G, c.68C>A, c.84C>A, c.85G>C, c.87G>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 49″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 49 Gene:MARVELD2. Exons: NM_001038603.2:2-7. Variants(5): c.1331+1G>A, c.1183-1G>A, c.1498C>T, c.1331+2T>C, c.1331+2_1331+5delTGAG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 59″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 59 Gene:DFNB59. Exons: NM_001042702.3:2-7. Variants(7): c.988delG, c.726delT, c.161C>T, c.547C>T, c.499C>T, c.122delA, c.113dupT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 6″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 6 Gene:TMIE. Exons: NM_147196.2:2-4. Variants(3): c.170G>A, c.241C>T, c.250C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 61″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 61 Gene:SLC26A5. Exons: NM_198999.2:3-20. Variants(3): c.390A>C, c.209G>A, c.-53-2A>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 63″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 63 Gene:LRTOMT. Exons: NM_001145308.4:3-7. Variants(5): c.242G>A, c.313T>C, c.333C>G, c.328G>A, c.358+4A>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 67″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 67 Gene:LHFPL5. Exons: NM_182548.3:1-3. Variants(4): c.250delC, c.380A>G, c.649delG, c.494C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 7/11″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 7/11 Gene:TMC1. Exons: NM_138691.2:5-24. Variants(4): c.1543T>C, c.1960A>G, c.1165C>T, c.100C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 77″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 77 Gene:LOXHD1. Exons: NM_144612.6:1-40. Variants(2): c.4714C>T, c.2008C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 79″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 79 Gene:TPRN. Exons: NM_001128228.2:2-4. Variants(2): c.1427delC, c.1239G>A T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 8/10″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 8/10 Gene:TMPRSS3. Exons: NM_024022.2:2-13. Variants(4): c.647G>T, c.753G>C, c.208delC, c.1211C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 9″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 9 Gene:OTOF. Exons: NM_194248.2:1-46. Variants(8): c.1544T>C, c.3032T>C, c.1778delT, c.766- 2A>G, c.2485C>T, c.2348delG, c.4491T>A, c.5816G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Distal Spinal Muscular Atrophy 1″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Distal Spinal Muscular Atrophy 1 Gene:IGHMBP2. Exons: NM_002180.2:2-15. Variants(7): c.675delT, c.638A>G, c.1738G>A, c.121C>T, c.2362C>T, c.707T>G, c.2611+1G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Distal Spinal Muscular Atrophy 4″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Distal Spinal Muscular Atrophy 4 Gene:PLEKHG5. Exons: NM_020631.4:2-21. Variants(1): c.1940T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Hypophosphatemic Rickets 1″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Hypophosphatemic Rickets 1 Gene:DMP1. Exons: NM_004407.3:2-6. Variants(3): c.362delC, c.1A>G, c.55-1G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Hypophosphatemic Rickets 2″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Hypophosphatemic Rickets 2 Gene:ENPP1. Exons: NM_006208.2:2-25. Variants(2): c.2702A>C, c.797G>T C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Neutropenia, Severe Congenital 4″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Neutropenia, Severe Congenital 4 Gene:G6PC3. Exons: NM_138387.3:1-6. Variants(7): c.778G>C, c.758G>A, c.346A>G, c.141C>G, c.935_936insT, c.784G>C, c.554T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Osteopetrosis 1″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Osteopetrosis 1 Gene:TCIRG1. Exons: NM_006019.3:2-20. Variants(4): c.2236+1G>A, c.1331G>T, c.1213G>A, c.1392C>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Osteopetrosis 3″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Osteopetrosis 3 Gene:CA2. Exons: NM_000067.2:2-7. Variants(3): c.232+1G>A, c.120T>G, c.319C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Osteopetrosis 4″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Osteopetrosis 4 Gene:CLCN7. Exons: NM_001287.5:2-25. Variants(3): c.2285G>A, c.1663C>T, c.2297T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Osteopetrosis 5″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Osteopetrosis 5 Gene:OSTM1. Exons: NM_014028.3:1-6. Variants(1): c.415_416delAG C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Polycystic Kidney Disease”][vc_column_text]Condition Gene/Varient
Autosomal Recessive Polycystic Kidney Disease Gene:PKHD1. Exons: NM_138694.3:2-67. Variants(137): c.8579_8583delACAGT, c.711_714delAATG, c.1626_1629delACTT, c.9464A>G, c.10412T>G, c.10219C>T, c.528-2A>G, c.5323C>T, c.10136delC, c.8068T>C, c.10765C>T, c.5378_5380+1delATGG, c.737T>C, c.2269A>C, c.8588A>G, c.9707delC, c.4330C>T, c.10628_10635delTGTATGTT, c.6333-2A>G, c.10658T>C, c.1057C>T, c.2810G>A, c.3467C>T, c.5895dupA, c.8312T>A, c.2936C>T, c.1880T>A, c.2542T>A, c.982C>T, c.1095G>A, c.9348delG, c.5498C>T, c.6992T>A, c.9689delA, c.5993T>C, c.10728G>A, c.9765G>A, c.3306delT, c.2532C>A, c.7477C>T, c.3848C>A, c.664A>G, c.977G>T, c.7177C>T, c.9319C>T, c.5485C>T, c.10856delA, c.3958_3959delGG, c.4256_4257delGG, c.10637delT, c.5375delT, c.474G>A, c.3367G>A, c.6097A>G, c.6029delA, c.9861C>A, c.2279G>A, c.10240delA, c.6907A>T, c.107C>T, c.11074C>T, c.10364delC, c.11506+1G>A, c.9683C>A, c.3118C>T, c.2341C>T, c.11612G>A, c.8302+2T>C, c.1486C>T, c.383delC, c.5750A>C, c.10972_10973delAT, c.6209G>A, c.2520_2526delATACACT, c.7264T>G, c.8829_8830insG, c.5748_5749delTC, c.10031T>G, c.8011C>T, c.10077delG, c.1411_1412delGT, c.11524C>T, c.10637_10638insG, c.9718C>T, c.10444C>T, c.7916C>A, c.2264C>T, c.10174C>T, c.9719G>A, c.9239G>A, c.8909_8912delTTGT, c.8642+1G>A, c.7912-1G>C, c.8870T>C, c.3761_3762delCCinsG, c.2216C>T, c.7351-2A>T, c.53-3C>A, c.3229-2A>C, c.1418T>G, c.6929delG, c.2141-1G>T, c.881-1G>A, c.4870C>T, c.977-1G>A, c.4457C>T, c.5075G>A, c.9530T>C, c.353delG, c.2854G>A, c.5646delT, c.1690C>T, c.370C>T, c.5513A>G, c.2812_2813delTA, c.6296_6297delTG, c.8518C>T, c.1233+1G>A, c.8935C>T, c.5381-2A>C, c.3747T>G, c.9347delT, c.4220T>G, c.6383delT, c.976+2T>A, c.1937G>A, c.8114delG, c.5825A>G, c.9370C>T, c.4751G>T, c.1774C>T, c.5237-1G>A, c.1830T>A, c.2179_2180insT, c.3364G>A, c.10709C>G, c.8824C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Segawa Syndrome”][vc_column_text]Condition Gene/Varient
Autosomal Recessive Segawa Syndrome Gene:TH. Exons: NM_000360.3:1-13. Variants(6): c.605G>A, c.614T>C, c.1388C>T, c.917G>A, c.1141C>A, c.733A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay”][vc_column_text]Condition Gene/Varient
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Gene:SACS. Exons: NM_014363.4:2,4-10. Variants(4): c.8844delT, c.7504C>T, c.12160C>T, c.10907G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Spastic paraplegia 11″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Spastic paraplegia 11 Gene:SPG11. Exons: NM_025137.3:1-40. Variants(8): c.6100C>T, c.733_734delAT, c.7152- 1G>C, c.5623C>T, c.2472_2473insT, c.529_533delATATT, c.442+1G>C, c.118C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Spastic paraplegia 15″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Spastic paraplegia 15 Gene:ZFYVE26. Exons: NM_015346.3:2-42. Variants(4): c.5485-1G>A, c.5422C>T, c.4312C>T, c.1477C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Spastic paraplegia 20″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Spastic paraplegia 20 Gene:SPG20. Exons: NM_015087.4:2-9. Variants(2): c.364_365delAT, c.1110delA
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Spastic paraplegia 7″][vc_column_text]Condition Gene/Varient
Autosomal Recessive Spastic paraplegia 7 Gene:SPG7. Exons: NM_003119.2:2-17. Variants(10): c.1617delC, c.2216_2217insA, c.1045G>A, c.1529C>T, c.1749G>C, c.1742_1744delTGG, c.850_851delTTinsC, c.233T>A, c.784_785delGC, c.2075G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Bardet-Biedl syndrome 1″][vc_column_text]Condition Gene/Varient
Bardet-Biedl syndrome 1 Gene:BBS1. Exons: NM_024649.4:1-17. Variants(1): c.1169T>G Bardet-Biedl syndrome 10. Gene:BBS10. Exons: NM_024685.3:1-2. Variants(1): c.217_218insT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Bartter Syndrome Type 1″][vc_column_text]Condition Gene/Varient
Bartter Syndrome Type 1 Gene:SLC12A1. Exons: NM_000338.2:2-27. Variants(3): c.1942G>A, c.814G>T, c.1875G>A Bartter Syndrome Type 2. Gene:KCNJ1. Exons: NM_000220.3:1-2. Variants(8): c.592G>A, c.641C>T, c.372T>A, c.500G>A, c.237C>G, c.657C>G, c.80G>A, c.322G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Bartter Syndrome Type 4A”][vc_column_text]Condition Gene/Varient
Bartter Syndrome Type 4A Gene:BSND. Exons: NM_057176.2:1-4. Variants(8): c.139G>A, c.28G>A, c.3G>A, c.35T>C, c.1A>T, c.23G>T, c.10G>T, c.22C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Bestrophinopathy”][vc_column_text]Condition Gene/Varient
Bestrophinopathy Gene:BEST1. Exons: NM_004183.3:2-11. Variants(4): c.422G>A, c.122T>C, c.949G>A, c.598C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Beta-Ketothiolase Deficiency”][vc_column_text]Condition Gene/Varient
Beta-Ketothiolase Deficiency Gene:ACAT1. Exons: NM_000019.3:1-12. Variants(11): c.433C>G, c.2T>A, c.935T>C, c.1083dupA, c.997G>C, c.814C>T, c.1136G>T, c.547G>A, c.1035_1037delAGA, c.1138G>A, c.278A>G T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Beta-thalassemia”][vc_column_text]Condition Gene/Varient
Beta-thalassemia Gene:HBB. Exons: NM_000518.4:1-3. Variants(110): c.216_217insT, c.79G>A, c.170G>A, c.316-3C>A, c.20A>T, c.364G>A, c.316-106C>G, c.4delG, c.111_118delTTGGACCC, c.1A>G, c.27dupG, c.52A>T, c.19G>T, c.92+5G>C, c.226delC, c.59A>G, c.92+5G>T, c.212C>G, c.215_216insA, c.114_120delGACCCAG, c.93-1G>C, c.315+1G>A, c.176_177insC, c.113G>A, c.92+1G>T, c.316- 14T>G, c.110delC, c.22_24delGAG, c.92+2T>A, c.2T>A, c.3G>T, c.230delC, c.108C>A, c.74delGinsCAC, c.82G>T, c.165delT, c.94delC, c.316-2A>G, c.93-3T>G, c.316-146T>G, c.349_350insTGAT, c.17_18delCT, c.332T>C, c.68_74delAAGTTGG, c.316-2A>C, c.2T>G, c.112delT, c.316-197C>T, c.-50-u30T>A, c.25_26delAA, c.47G>A, c.92G>C, c.189_195delTCATGGC, c.2T>C, c.315+1G>T, c.93-21G>A, c.36delT, c.-50-u31A>G, c.77_79delGTG, c.19G>A, c.380T>G, c.85_86insC, c.322_323insC, c.48G>A, c.364G>C, c.-50-u29A>G, c.425_433delTGGCCCACA, c.138delT, c.316-7C>G, c.75T>A, c.315+2delT, c.-43C>T, c.20delA, c.54_59delGGTGAA, c.92+1G>A, c.316-1G>T, c.287_288insA, c.78dupT, c.114G>A, c.118C>T, c.92+2T>C, c.3G>C, c.*110_*111delTA, c.92+6T>C, c.28_29insTA, c.315+1G>C, c.93-2A>G, c.-50-u28A>G, c.-50-u87C>T, c.-29G>A, c.-50-u87C>G, c.380T>A, c.93-1G>A, c.*110T>C, c.203_204delTG, c.135delC, c.126_129delCTTT, c.79G>T, c.67G>T, c.143_146dupATCT, c.184A>T, c.-50A>C, c.235delC, c.3G>A, c.45dupG, c.93-2A>C, c.92+2T>G, c.92+5G>A, c.178A>T, c.217dupA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Bietti Crystalline Dystrophy”][vc_column_text]Condition Gene/Varient
Bietti Crystalline Dystrophy Gene:CYP4V2. Exons: NM_207352.3:2-11. Variants(2): c.327+1G>A, c.1091-2A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Biotinidase Deficiency”][vc_column_text]Condition Gene/Varient
Biotinidase Deficiency Gene:BTD. Exons: NM_000060.2:1-4. Variants(8): c.1612C>T, c.235C>T, c.100G>A, c.1595C>T, c.511G>A, c.755A>G, c.98_104delGCGGCTGinsTCC, c.1368A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Bjornstad Syndrome”][vc_column_text]Condition Gene/Varient
Bjornstad Syndrome Gene:BCS1L. Exons: NM_004328.4:3-9. Variants(3): c.548G>A, c.103G>C, c.550C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Bloom syndrome”][vc_column_text]Condition Gene/Varient
Bloom syndrome Gene:BLM. Exons: NM_000057.2:2-22. Variants(1): c.2207_2212delATCTGAinsTAGATTC T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Bothnia Type Retinitis Pigmentosa”][vc_column_text]Condition Gene/Varient
Bothnia Type Retinitis Pigmentosa Gene:RLBP1. Exons: NM_000326.4:3-9. Variants(1): c.700C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Brittle Cornea Syndrome”][vc_column_text]Condition Gene/Varient
Brittle Cornea Syndrome Gene:ZNF469. Exons: NM_001127464.1:1-2. Variants(1): c.4174G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”C3 deficiency”][vc_column_text]Condition Gene/Varient
C3 deficiency Gene:C3. Exons: NM_000064.2:1-41. Variants(5): c.1004-2A>T, c.2354+1G>A, c.3116dupT, c.1655G>A, c.1119+1G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Canavan Disease”][vc_column_text]Condition Gene/Varient
Canavan Disease Gene:ASPA. Exons: NM_000049.2:1-6. Variants(5): c.654C>A, c.433-2A>G, c.854A>C, c.693C>A, c.914C>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”CARASIL Syndrome”][vc_column_text]Condition Gene/Varient
CARASIL Syndrome Gene:HTRA1. Exons: NM_002775.4:2-9. Variants(4): c.1108C>T, c.904C>T, c.889G>A, c.754G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Carbamoylphosphate Synthetase I Deficiency”][vc_column_text]Condition Gene/Varient
Carbamoylphosphate Synthetase I Deficiency Gene:CPS1. Exons: NM_001875.4:1-38. Variants(5): c.130C>T, c.1631C>T, c.2945G>A, c.2359C>T, c.1010A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Carnitine Palmitoyltransferase I Deficiency”][vc_column_text]Condition Gene/Varient
Carnitine Palmitoyltransferase I Deficiency Gene:CPT1A. Exons: NM_001876.3:2-19. Variants(6): c.1493A>G, c.1361A>G, c.1079A>G, c.298C>T, c.2126G>A, c.1241C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Carnitine Palmitoyltransferase II Deficiency”][vc_column_text]Condition Gene/Varient
Carnitine Palmitoyltransferase II Deficiency Gene:CPT2. Exons: NM_000098.2:1-5. Variants(11): c.1657G>A, c.1891C>T, c.452G>A, c.520G>A, c.359A>G, c.1507C>T, c.1148T>A, c.680C>T, c.338C>T, c.1883A>C, c.370C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Carpenter Syndrome”][vc_column_text]Condition Gene/Varient
Carpenter Syndrome Gene:RAB23. Exons: NM_183227.1:2-7. Variants(1): c.434T>
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”A Cartilage-hair hypoplasia”][vc_column_text]Condition Gene/Varient
A Cartilage-hair hypoplasia Gene:RMRP. Exons: NR_003051.3:1. Variants(1): n.71A>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”CC2D2A-Related COACH Syndrome”][vc_column_text]Condition Gene/Varient
CC2D2A-Related COACH Syndrome Gene:CC2D2A. Exons: NM_001080522.2:3-38. Variants(1): c.3145C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Central Core Disease”][vc_column_text]Condition Gene/Varient
Central Core Disease Gene:RYR1. Exons: NM_000540.2:1-90,92-106. Variants(2): c.14545G>A, c.10579C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome”][vc_column_text]Condition Gene/Varient
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Gene:SNAP29. Exons: NM_004782.3:1- 5. Variants(1): c.487dupA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Cerebrooculofacioskeletal Syndrome 1″][vc_column_text]Condition Gene/Varient
Cerebrooculofacioskeletal Syndrome 1 Gene:ERCC6. Exons: NM_000124.2:2-21. Variants(2): c.2047C>T, c.3862C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Cerebrotendinous xanthomatosis”][vc_column_text]Condition Gene/Varient
Cerebrotendinous xanthomatosis Gene:CYP27A1. Exons: NM_000784.3:1-9. Variants(6): c.1435C>G, c.1016C>T, c.1421G>A, c.1420C>T, c.434G>A, c.1214G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 1F/Type 2E”][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 1F/Type 2E Gene:NEFL. Exons: NM_006158.3:1-4. Variants(2): c.628G>T, c.418G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 2B1″][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 2B1 Gene:LMNA. Exons: NM_170707.3:1-12. Variants(1): c.892C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 2B2″][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 2B2 Gene:MED25. Exons: NM_030973.3:1-18. Variants(1): c.1004C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 4A”][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 4A Gene:GDAP1. Exons: NM_018972.2:1-6. Variants(5): c.581C>G, c.92G>A, c.715C>T, c.844C>T, c.487C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 4B1″][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 4B1 Gene:MTMR2. Exons: NM_016156.5:1-15. Variants(3): c.1276C>T, c.826G>T, c.1444C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 4B2″][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 4B2 Gene:SBF2. Exons: NM_030962.3:2-40. Variants(3): c.1459C>T, c.3586C>T, c.2875C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 4C”][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 4C Gene:SH3TC2. Exons: NM_024577.3:1-17. Variants(20): c.2710C>T, c.530-2A>G, c.3325C>T, c.3341delC, c.1982T>C, c.2829T>G, c.1178-1G>A, c.1747_1748delAG, c.3601C>T, c.217_227delGCTGCTCGGAGinsCCAGTAA, c.505T>C, c.2860C>T, c.2491_2492delAG, c.920G>A, c.1969G>A, c.3326G>C, c.1586G>A, c.2191delG, c.28delG, c.1972C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”SectionCharcot-Marie-Tooth disease Type 4D”][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 4D Gene:NDRG1. Exons: NM_006096.3:2-16. Variants(2): c.442C>T, c.538-1G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 4F”][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 4F Gene:PRX. Exons: NM_181882.2:4-7. Variants(5): c.2098delG, c.2145T>A, c.3208C>T, c.1951G>A, c.586C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 4H”][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 4H Gene:FGD4. Exons: NM_139241.2:3-17. Variants(7): c.823C>T, c.893T>G, c.670C>T, c.1628_1629delAG, c.1756G>T, c.1325G>A, c.893T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Charcot-Marie-Tooth disease Type 4J”][vc_column_text]Condition Gene/Varient
Charcot-Marie-Tooth disease Type 4J Gene:FIG4. Exons: NM_014845.5:1-23. Variants(2): c.547C>T, c.122T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Chorea-Acanthocytosis”][vc_column_text]Condition Gene/Varient
Chorea-Acanthocytosis Gene:VPS13A. Exons: NM_033305.2:1-72. Variants(2): c.269T>A, c.622C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Citrullinemia Type I”][vc_column_text]Condition Gene/Varient
Citrullinemia Type I Gene:ASS1. Exons: NM_000050.4:3-16. Variants(13): c.910C>T, c.1085G>T, c.421-2A>G, c.970G>A, c.40G>A, c.794G>A, c.1168G>A, c.257G>A, c.835C>T, c.539G>A, c.470G>A, c.970+5G>A, c.1087C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Citrullinemia Type II”][vc_column_text]Condition Gene/Varient
Citrullinemia Type II Gene:SLC25A13. Exons: NM_014251.2:1-18. Variants(12): c.674C>A, c.1078C>T, c.852_855delTATG, c.1799dupA, c.1311+1G>A, c.615+1G>C, c.1801G>T, c.615+5G>A, c.1592G>A, c.1177+1G>A, c.1813C>T, c.1801G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Cockayne Syndrome Type A”][vc_column_text]Condition Gene/Varient
Cockayne Syndrome Type A Gene:ERCC8. Exons: NM_000082.3:1-12. Variants(3): c.37G>T, c.966C>A, c.479C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Cockayne Syndrome Type B”][vc_column_text]Condition Gene/Varient
Cockayne Syndrome Type B Gene:ERCC6. Exons: NM_000124.2:2-21. Variants(4): c.1550G>A, c.3592_3593insGA, c.2203C>T, c.1357C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Cohen syndrome”][vc_column_text]Condition Gene/Varient
Cohen syndrome Gene:VPS13B. Exons: NM_017890.4:2-62. Variants(1): c.3348_3349delCT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”COL17A1-Related Junctional Epidermolysis Bullosa”][vc_column_text]Condition Gene/Varient
COL17A1-Related Junctional Epidermolysis Bullosa Gene:COL17A1. Exons: NM_000494.3:2-56. Variants(15): c.1706delC, c.3676C>T, c.433C>T, c.1898G>A, c.2336-2A>G, c.2944_2947+1delGAAGG, c.2383C>T, c.520_521delAG, c.2564T>G, c.2965delA, c.3908G>A, c.4003_4004delGG, c.4150_4151insG, c.2336-1G>T, c.3067C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”COL4A3-Related Autosomal Recessive Alport Syndrome”][vc_column_text]Condition Gene/Varient
COL4A3-Related Autosomal Recessive Alport Syndrome Gene:COL4A3. Exons: NM_000091.4:2-52. Variants(3): c.4441C>T, c.4420_4424delCTTTT, c.4571C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”COL4A4-Related Autosomal Recessive Alport Syndrome”][vc_column_text]Condition Gene/Varient
COL4A4-Related Autosomal Recessive Alport Syndrome Gene:COL4A4. Exons: NM_000092.4:2-48. Variants(5): c.3601G>A, c.4129C>T, c.3713C>A, c.4923C>A, c.4715C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Combined Oxidative Phosphorylation Deficiency 1″][vc_column_text]Condition Gene/Varient
Combined Oxidative Phosphorylation Deficiency 1 Gene:GFM1. Exons: NM_024996.5:1-18. Variants(3): c.1487T>G, c.748C>T, c.139C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Combined Oxidative Phosphorylation Deficiency 2″][vc_column_text]Condition Gene/Varient
Combined Oxidative Phosphorylation Deficiency 2 Gene:MRPS16. Exons: NM_016065.3:1-3. Variants(1): c.331C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Combined Oxidative Phosphorylation Deficiency 3″][vc_column_text]Condition Gene/Varient
Combined Oxidative Phosphorylation Deficiency 3 Gene:TSFM. Exons: NM_001172696.1:1-4,6-7. Variants(1): c.997C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Combined Oxidative Phosphorylation Deficiency 5″][vc_column_text]Condition Gene/Varient
Combined Oxidative Phosphorylation Deficiency 5 Gene:MRPS22. Exons: NM_020191.2:1-8. Variants(2): c.509G>A, c.644T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Combined pituitary hormone deficiency 1″][vc_column_text]Condition Gene/Varient
Combined pituitary hormone deficiency 1 Gene:POU1F1. Exons: NM_000306.2:1-6. Variants(10): c.472G>C, c.433A>T, c.515G>A, c.748G>T, c.514C>T, c.688G>A, c.577T>C, c.404T>G, c.428G>A, c.715C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Combined pituitary hormone deficiency 3″][vc_column_text]Condition Gene/Varient
Combined pituitary hormone deficiency 3 Gene:LHX3. Exons: NM_014564.3:2-3,5-6. Variants(3): c.347A>G, c.687G>A, c.644C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Combined pituitary hormone deficiency 2″][vc_column_text]Condition Gene/Varient
Combined pituitary hormone deficiency 2 Gene:PROP1. Exons: NM_006261.4:1-3. Variants(17): c.349T>A, c.150delA, c.263T>C, c.310delC, c.358C>T, c.343-11C>G, c.157delA, c.247C>T, c.218G>A, c.301_302delAG, c.469_470insT, c.109+1G>T, c.112_124delTCGAGTGCTCCAC, c.2T>C, c.373C>T, c.295C>T, c.217C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Combined SAP Deficiency”][vc_column_text]Condition Gene/Varient
Combined SAP Deficiency Gene:PSAP. Exons: NM_002778.2:1-14. Variants(1): c.1A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”T Cone Dystrophy 4″][vc_column_text]Condition Gene/Varient
T Cone Dystrophy 4 Gene:PDE6C. Exons: NM_006204.3:1-22. Variants(12): c.85C>T, c.2457T>A, c.633G>C, c.256_257insAG, c.1483- 2A>G, c.826C>T, c.2368G>A, c.481-12T>A, c.967T>A, c.1805A>T, c.1682dupA, c.1363A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Cone-rod Dystrophy 3″][vc_column_text]Condition Gene/Varient
Cone-rod Dystrophy 3 Gene:ABCA4. Exons: NM_000350.2:1-50. Variants(6): c.2616_2617delCT, c.5714+5G>A, c.5285C>A, c.3540_3555delGTCTAAGGGTTTCTCC, c.2888delG, c.5461-10T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Amegakaryocytic Thrombocytopenia”][vc_column_text]Condition Gene/Varient
Congenital Amegakaryocytic Thrombocytopenia Gene:MPL. Exons: NM_005373.2:1-12. Variants(5): c.823C>A, c.1473G>A, c.769C>T, c.305G>C, c.556C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Bile Acid Synthesis Defect 4″][vc_column_text]Condition Gene/Varient
Congenital Bile Acid Synthesis Defect 4 Gene:AMACR. Exons: NM_014324.5:1-5. Variants(1): c.320T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Bile Acid Synthesis Defect 3″][vc_column_text]Condition Gene/Varient
Congenital Bile Acid Synthesis Defect 3 Gene:CYP7B1. Exons: NM_004820.3:2-6. Variants(1): c.1162C>T T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Diarrhea 4, Malabsorptive”][vc_column_text]Condition Gene/Varient
Congenital Diarrhea 4, Malabsorptive Gene:NEUROG3. Exons: NM_020999.3:2. Variants(2): c.278G>T, c.319C>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation Ia”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation Ia Gene:PMM2. Exons: NM_000303.2:1-8. Variants(21): c.422G>A, c.669C>G, c.563A>G, c.338C>T, c.722G>C, c.691G>A, c.647A>T, c.95T>G, c.620T>C, c.484C>T, c.193G>T, c.677C>G, c.349G>C, c.131T>C, c.26G>A, c.385G>A, c.710C>G, c.357C>A, c.395T>C, c.368G>A, c.317A>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation Ib”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation Ib Gene:MPI. Exons: NM_002435.1:1-8. Variants(4): c.656G>A, c.305C>T, c.413T>C, c.884G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation Ic”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation Ic Gene:ALG6. Exons: NM_013339.3:2-15. Variants(3): c.897_899delAAT, c.1432T>C, c.998C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation Ie”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation Ie Gene:DPM1. Exons: NM_003859.1:1-9. Variants(2): c.628delC, c.274C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation IIa”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation IIa Gene:MGAT2. Exons: NM_002408.3:1. Variants(3): c.869C>T, c.785A>G, c.1017T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation IIc”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation IIc Gene:SLC35C1. Exons: NM_018389.4:1-2. Variants(2): c.923C>G, c.439C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation IId”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation IId Gene:B4GALT1. Exons: NM_001497.3:1-6. Variants(1): c.1031dupC
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation IIf”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation IIf Gene:SLC35A1. Exons: NM_006416.4:2-8. Variants(1): c.277_280delGTGCinsTG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation Ij”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation Ij Gene:DPAGT1. Exons: NM_001382.3:1-9. Variants(1): c.509A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation Ik”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation Ik Gene:ALG1. Exons: NM_019109.4:1-9,11,13. Variants(2): c.450C>G, c.434G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Disorders of Glycosylation It”][vc_column_text]Condition Gene/Varient
Congenital Disorders of Glycosylation It Gene:PGM1. Exons: NM_002633.2:1-11. Variants(2): c.361G>C, c.1507C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Erythropoietic Porphyria”][vc_column_text]Condition Gene/Varient
Congenital Erythropoietic Porphyria Gene:UROS. Exons: NM_000375.2:2-10. Variants(1): c.217T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Generalized Lipodystrophy Type 2″][vc_column_text]Condition Gene/Varient
Congenital Generalized Lipodystrophy Type 2 Gene:BSCL2. Exons: NM_032667.6:2-11. Variants(5): c.412C>T, c.823C>T, c.671+5G>A, c.672-3C>G, c.634G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Hypomyelinating Neuropathy 1″][vc_column_text]Condition Gene/Varient
Congenital Hypomyelinating Neuropathy 1 Gene:EGR2. Exons: NM_000399.3:1-2. Variants(1): c.803T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Hypothryoidism Nongoitrous 1″][vc_column_text]Condition Gene/Varient
Congenital Hypothryoidism Nongoitrous 1 Gene:TSHR. Exons: NM_000369.2:1-10. Variants(13): c.970C>T, c.1657G>A, c.1798T>C, c.122G>C, c.500T>A, c.1228G>A, c.928C>T, c.326G>A, c.484C>G, c.1637G>A, c.1170T>G, c.1575C>A, c.202C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Hypothryoidism Nongoitrous 4″][vc_column_text]Condition Gene/Varient
Congenital Hypothryoidism Nongoitrous 4 Gene:TSHB. Exons: NM_000549.3:2-3. Variants(3): c.205C>T, c.145G>A, c.94G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital myasthenic Syndrome with tubular aggregates 2″][vc_column_text]Condition Gene/Varient
Congenital myasthenic Syndrome with tubular aggregates 2 Gene:DPAGT1. Exons: NM_001382.3:1-9. Variants(3): c.349G>A, c.358C>A, c.791T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Congenital Plasminogen Deficiency”][vc_column_text]Condition Gene/Varient
Congenital Plasminogen Deficiency Gene:PLG. Exons: NM_000301.3:1-18. Variants(6): c.112A>G, c.1848G>A, c.1120G>T, c.704G>A, c.693_695delGAA, c.1435G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Corneal Endothelial Dystrophy”][vc_column_text]Condition Gene/Varient
Corneal Endothelial Dystrophy Gene:SLC4A11. Exons: NM_032034.3:1-19. Variants(14): c.1813C>T, c.2240_2240+1insTATGACAC, c.637T>C, c.473_480delGCTTCGCC, c.2233_2240dupTATGACAC, c.2605C>T, c.2528T>C, c.1463G>A, c.1466C>T, c.1391G>A, c.2264G>A, c.353_356delAGAA, c.2606G>A, c.2566A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Crigler-Najjar Syndrome”][vc_column_text]Condition Gene/Varient
Crigler-Najjar Syndrome Gene:UGT1A1. Exons: NM_000463.2:1-5. Variants(5): c.674T>G, c.1021C>T, c.524T>A, c.44T>G, c.991C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Crisponi Syndrome”][vc_column_text]Condition Gene/Varient
Crisponi Syndrome Gene:CRLF1. Exons: NM_004750.4:2-6,8-9. Variants(12): c.538C>T, c.829C>T, c.413C>T, c.303delC, c.527+5G>A, c.713_714insC, c.852G>T, c.708_709delCCinsT, c.935G>A, c.845_846delTG, c.226T>G, c.676dupA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Cystic Fibrosis”][vc_column_text]Condition Gene/Varient
Crisponi Syndrome Gene:CFTR. Exons: NM_000492.3:1-27. Variants(151): c.1397C>A, c.3752G>A, c.579+1G>T, c.3937C>T, c.2583delT, c.1397C>G, c.1911delG, c.1209+1G>A, c.948delT, c.1130_1131insA, c.2834C>T, c.1007T>A, c.2668C>T, c.273+1G>A, c.3276C>G, c.3744delA, c.2464G>T, c.223C>T, c.3154T>G, c.328G>C, c.1680-1G>A, c.1766+1G>A, c.1A>G, c.3846G>A, c.3528delC, c.366T>A, c.2988G>A, c.2657+5G>A, c.803delA, c.200C>T, c.1865G>A, c.3310G>T, c.178G>T, c.2175_2176insA, c.3454G>C, c.1327_1330dupGATA, c.1766+3A>G, c.262_263delTT, c.164+12T>C, c.2551C>T, c.1022_1023insTC, c.3302T>A, c.2052delA, c.3276C>A, c.2780T>C, c.3873+1G>A, c.3230T>C, c.273+3A>C, c.3536_3539delCCAA, c.1585-8G>A, c.2538G>A, c.325_327delTATinsG, c.4077_4080delTGTTinsAA, c.489+1G>T, c.3197G>A, c.3587C>G, c.3140-26A>G, c.3717+4A>G, c.1393-1G>A, c.274G>A, c.1466C>A, c.1075C>A, c.613C>T, c.1572C>A, c.349C>T, c.2249C>T, c.115C>T, c.1055G>A, c.3659delC, c.3764C>A, c.292C>T, c.1675G>A, c.2537G>A, c.254G>A, c.1203G>A, c.350G>A, c.1079C>A, c.2128A>T, c.1202G>A, c.1766+1G>T, c.3612G>A, c.1679G>A, c.658C>T, c.4251delA, c.2491G>T, c.2052_2053insA, c.2988+1G>A, c.1645A>C, c.1081delT, c.3712C>T, c.3484C>T, c.1624G>T, c.1923_1931delCTCAAAACTinsA, c.595C>T, c.442delA, c.579+3A>G, c.1519_1521delATC, c.2125C>T, c.1654C>T, c.3196C>T, c.2051_2052delAAinsG, c.2490+1G>A, c.2453delT, c.617T>G, c.3909C>G, c.805_806delAT, c.1013C>T, c.3611G>A, c.3266G>A, c.1679G>C, c.2195T>G, c.580-1G>T, c.1585-1G>A, c.1477C>T, c.772A>G, c.1545_1546delTA, c.1475C>T, c.1766+5G>T, c.1647T>G, c.3773_3774insT, c.1558G>T, c.1156_1157insTA, c.2215delG, c.1364C>A, c.2875delG, c.2012delT, c.274-1G>A, c.1116+1G>A, c.1646G>A, c.988G>T, c.531delT, c.2989-1G>A, c.2290C>T, c.1438G>T, c.1040G>A, c.1721C>A, c.274G>T, c.1657C>T, c.1040G>C, c.722_743delGGAGAATGATGATGAAGTACAG, c.1652G>A, c.2039delC, c.3731G>A, c.3194T>C, c.1521_1523delCTT, c.2869_2870insG, c.3889_3890insT, c.579+5G>A, c.3472C>T, c.1753G>T, c.1000C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”D-Hydroxyglutaric Aciduria”][vc_column_text]Condition Gene/Varient
D-Hydroxyglutaric Aciduria Gene:D2HGDH. Exons: NM_152783.3:2-10. Variants(3): c.491-2A>G, c.440T>G, c.1315A>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”D-Bifunctional Protein Deficiency”][vc_column_text]Condition Gene/Varient
D-Bifunctional Protein Deficiency Gene:HSD17B4. Exons: NM_000414.3:1-24. Variants(5): c.46G>A, c.423_424delGA, c.650A>G, c.1369A>T, c.317G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”DCLRE1C-Related Omenn Syndrome”][vc_column_text]Condition Gene/Varient
DCLRE1C-Related Omenn Syndrome Gene:DCLRE1C. Exons: NM_001033855.1:1-7,9-14. Variants(1): c.2T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Dejerine-Sottas disease, autosomal recessive”][vc_column_text]Condition Gene/Varient
Dejerine-Sottas disease, autosomal recessive Gene:PRX. Exons: NM_181882.2:4-7. Variants(3): c.247delC, c.2857C>T, c.1102C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Dent Disease”][vc_column_text]Condition Gene/Varient
Dent Disease Gene:OCRL. Exons: NM_000276.3:2-24. Variants(2): c.166_167delAT, c.2530C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Diastrophic Dysplasia”][vc_column_text]Condition Gene/Varient
Diastrophic Dysplasia Gene:SLC26A2. Exons: NM_000112.3:2-3. Variants(4): c.1724delA, c.-26+2T>C, c.1361A>C, c.1957T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=” Dihydropyrimidine Dehydrogenase Deficiency”][vc_column_text]Condition Gene/Varient
Dihydropyrimidine Dehydrogenase Deficiency Gene:DPYD. Exons: NM_000110.3:1-23. Variants(1): c.1905+1G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Donnai-Barrow Syndrome”][vc_column_text]Condition Gene/Varient
Donnai-Barrow Syndrome Gene:LRP2. Exons: NM_004525.2:2-79. Variants(13): c.8519_8522delATTT, c.770-2A>G, c.1341+2T>G, c.9484_9485delGT, c.6160G>A, c.2640-1G>A, c.8452+1G>A, c.13139_13140insC, c.11469_11472delTTTG, c.10195C>T, c.7564T>C, c.9358_9359delAG, c.1093C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Donohue Syndrome”][vc_column_text]Condition Gene/Varient
Donohue Syndrome Gene:INSR. Exons: NM_000208.2:2-22. Variants(4): c.1114C>T, c.1378A>G, c.698T>C, c.172G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Duchenne Muscular Dystrophy”][vc_column_text]Condition Gene/Varient
Duchenne Muscular Dystrophy Gene:DMD. Exons: NM_004006.2:1-79. Variants(903): c.6223C>T, c.10018T>C, c.1332-9A>G, c.3121C>T, c.4558G>T, c.4711A>T, c.10019G>A, c.10033C>T, c.7339C>T, c.187-1G>C, c.8754delG, c.440C>A, c.8391-1G>C, c.3679C>T, c.5985T>G, c.1132C>T, c.2974C>T, c.7542+1G>A, c.7672C>T, c.3464_3471delGTTTGGAG, c.9663delA, c.9739C>T, c.3151C>T, c.903C>A, c.4841delG, c.10202T>G, c.8713C>T, c.2368C>T, c.7392delC, c.10606delC, c.1594C>T, c.9691C>T, c.2365G>T, c.5314A>T, c.6913-2A>G, c.5287C>T, c.3562A>T, c.357+1G>C, c.1633A>T, c.2776C>T, c.5401_5402delAT, c.409G>T, c.8686A>T, c.9649+2T>C, c.9001C>T, c.721C>T, c.1483-1G>C, c.1603-1G>A, c.748G>T, c.10554-2A>G, c.3259C>T, c.4898_4899delAG, c.7739delA, c.7873delC, c.3274A>T, c.10855C>T, c.9176delG, c.1978_1979delAA, c.1952G>A, c.10563delA, c.3365_3366delAG, c.2803+1G>A, c.1865C>G, c.9807+4delA, c.4057G>T, c.9974+2T>A, c.4084C>T, c.10141C>T, c.5563C>T, c.10094C>A, c.2866C>T, c.8938-9T>A, c.3427C>T, c.2991C>G, c.2638delC, c.1093C>T, c.745C>T, c.7542+2T>C, c.10135A>T, c.2475G>A, c.4087A>T, c.9600_9601delAA, c.3603+2T>G, c.4757G>A, c.9974+1G>T, c.488G>A, c.8176G>T, c.8774G>A, c.5800G>T, c.7247delT, c.6730C>T, c.313A>T, c.1324C>T, c.5209C>T, c.2128A>T, c.5266C>T, c.1527_1530delTCTC, c.2299G>T, c.9100C>T, c.3244G>T, c.4519-1G>C, c.8357G>A, c.9135delT, c.1873C>T, c.2407C>T, c.1663C>T, c.2281_2285delGAAAA, c.3430C>T, c.10088delC, c.4375C>T, c.2512C>T, c.4071+1G>A, c.1207G>T, c.2761delG, c.7229G>A, c.3125delA, c.6238C>T, c.2314G>T, c.7564C>T, c.2302C>T, c.8914C>T, c.6436A>T, c.689delT, c.9862G>T, c.6614+2T>C, c.6674T>G, c.5694_5697delAAAA, c.10477delC, c.4693C>T, c.3432+1G>T, c.10121delA, c.1615C>T, c.5845delC, c.5771_5772delAG, c.1555G>T, c.9649+5G>T, c.10219G>T, c.2956C>T, c.1235delT, c.6460C>T, c.9090delC, c.7054G>T, c.5637G>A, c.10651C>T, c.3470delA, c.1331+1G>T, c.7720C>T, c.4870C>T, c.2650C>T, c.1974delT, c.6200delC, c.2949+1G>T, c.7310- 1G>A, c.676_678delAAG, c.9148C>T, c.6804_6807delACAA, c.3478_3479delGT, c.1474C>T, c.10969G>T, c.9380C>G, c.3196G>T, c.453T>A, c.9183G>A, c.5032C>T, c.4980delG, c.7755G>A, c.580C>T, c.6276C>G, c.3397G>T, c.4545_4549delGAAGT, c.6277A>T, c.568C>T, c.8608C>T, c.6592C>T, c.10086+5G>C, c.53delA, c.31+1G>T, c.7657C>T, c.9337C>T, c.2558T>A, c.883C>T, c.1061G>A, c.6790C>T, c.1087C>T, c.8944C>T, c.9563+1215A>G, c.583C>T, c.4151delA, c.4103delG, c.4852C>T, c.8807_8808delTC, c.6255G>A, c.2707G>T, c.4150G>T, c.433C>T, c.3033delC, c.5272_5273delTC, c.1682G>A, c.1388G>A, c.5653C>T, c.10279C>T, c.2236G>T, c.10498_10499delAG, c.2968C>T, c.10003G>C, c.9403C>T, c.8416C>T, c.4294C>T, c.10108C>T, c.1292G>A, c.516delC, c.1726delT, c.3940C>T, c.6614+1G>A, c.2869C>T, c.6393_6394delAA, c.5917C>T, c.3768delG, c.5766_5770delGAAAG, c.6373C>T, c.956C>G, c.8443C>T, c.1783G>T, c.7309+1G>A, c.1489C>T, c.4996C>T, c.5740-2A>G, c.503C>A, c.7582G>T, c.6439-1G>A, c.2804-2A>C, c.178C>T, c.4845+2T>C, c.7768_7771delGAAG, c.475_476delTT, c.3220G>T, c.10072G>T, c.6423C>A, c.9197C>A, c.3086G>A, c.4918delA, c.5530C>T, c.10203delA, c.3268C>T, c.5350G>T, c.9361+5G>C, c.10223+1G>C, c.6880A>T, c.8087delT, c.8214G>A, c.2227C>T, c.4147C>T, c.11G>A, c.7348delG, c.1990C>T, c.2737delG, c.4071+2T>A, c.9360C>A, c.433delC, c.998C>A, c.5461G>T, c.9072G>A, c.6292C>T, c.4414C>T, c.2791G>T, c.673A>T, c.9364delG, c.9461T>A, c.3147delA, c.3336delG, c.724C>T, c.3603+1G>T, c.9928C>T, c.6943G>T, c.8269G>T, c.9619_9626delTGTAAAGC, c.7401_7402delGGinsAT, c.1812delC, c.4108C>T, c.253C>T, c.2293- 1G>T, c.9427C>T, c.6364G>T, c.58delA, c.572C>G, c.5154+2T>G, c.9986delT, c.965T>A, c.8074C>T, c.9959delC, c.10368delT, c.7105G>T, c.193G>T, c.10225_10229delCCCGT, c.9333delA, c.1619G>A, c.1149+2T>C, c.10722delC, c.8038C>T, c.2359delC, c.777delA, c.6955C>T, c.565C>T, c.10903C>T, c.9938G>T, c.9204_9207delCAAA, c.2701G>T, c.1683G>A, c.4518+5G>A, c.9649+1G>A, c.3469G>T, c.94-1G>A, c.772_773delCC, c.1533_1536delTCAC, c.8098A>T, c.1609G>T, c.8027+1G>A, c.7669delA, c.9563+1G>A, c.10171C>T, c.9109C>T, c.10126delC, c.2669T>G, c.530+1G>T, c.6391C>T, c.8728G>T, c.2276T>G, c.3188G>A, c.3337C>T, c.2622+1G>A, c.6720delT, c.6283C>T, c.2873C>G, c.3864delA, c.8287delC, c.2933_2934delGA, c.6544C>T, c.8064_8065delTA, c.9346C>T, c.832-15A>G, c.2017C>T, c.9748G>T, c.272T>A, c.5044G>T, c.5851C>T, c.6429G>A, c.5899C>T, c.1519delG, c.372delG, c.3222delA, c.9445C>T, c.354G>A, c.2665C>T, c.907C>T, c.5487_5488delAA, c.9568C>T, c.9471_9474delTTAT, c.8420G>A, c.1699G>T, c.2270C>G, c.2521C>T, c.3061G>T, c.4117C>T, c.5154+1G>A, c.5542A>T, c.2381-2A>G, c.4213C>T, c.1438G>T, c.3432+2240A>G, c.615T>A, c.5551C>T, c.649+2T>C, c.3347_3350delAGAA, c.5922+2T>C, c.5641C>T, c.2767delT, c.133C>T, c.8009G>A, c.6868A>T, c.9225-1G>A, c.4729C>T, c.3580C>T, c.10086+1G>T, c.199G>T, c.5554C>T, Exon 1-79 del, Exon 10- 11 del, Exon 10-13 del, Exon 10-17 del, Exon 10-18 del, Exon 10-23 del, Exon 10-30 del, Exon 10-33 del, Exon 10-42 del, Exon 10-43 del, Exon 10-44 del, Exon 10-46 del, Exon 10-48 del, Exon 10-53 del, Exon 10-62 del, Exon 11-13 del, Exon 11-41 del, Exon 11-48 del, Exon 1- 18 del, Exon 1-2 del, Exon 1-20 del, Exon 12-13 del, Exon 12-16 del, Exon 12-17 del, Exon 12-18 del, Exon 12-19 del, Exon 1-22 del, Exon 12-20 del, Exon 12-25 del, Exon 12-30 del, Exon 12-41 del, Exon 12-43 del, Exon 12-45 del, Exon 12-50 del, Exon 1-30 del, Exon 13-18 del, Exon 13-19 del, Exon 13-29 del, Exon 13-41 del, Exon 13-43 del, Exon 13-44 del, Exon 13-48 del, Exon 14-17 del, Exon 14-18 del, Exon 14- 43 del, Exon 14-60 del, Exon 1-5 del, Exon 1-6 del, Exon 16-17 del, Exon 16-19 del, Exon 16-27 del, Exon 16-44 del, Exon 1-7 del, Exon 17- 19 del, Exon 17-21 del, Exon 1-73 del, Exon 17-44 del, Exon 17-48 del, Exon 17-51 del, Exon 1-79 del, Exon 18-20 del, Exon 18-22 del, Exon 18-26 del, Exon 18-29 del, Exon 18-32 del, Exon 18-37 del, Exon 18-38 del, Exon 18-39 del, Exon 18-41 del, Exon 18-44 del, Exon 19- 20 del, Exon 19-21 del, Exon 19-44 del, Exon 20-21 del, Exon 20-22 del, Exon 20-23 del, Exon 20-26 del, Exon 20-29 del, Exon 20-37 del, Exon 20-41 del, Exon 20-43 del, Exon 20-45 del, Exon 20-47 del, Exon 20-50 del, Exon 2-12 del, Exon 2-13 del, Exon 21-42 del, Exon 21-43 del, Exon 2-17 del, Exon 2-18 del, Exon 2-19 del, Exon 2-20 del, Exon 22-25 del, Exon 22-30 del, Exon 22-31 del, Exon 22-33 del, Exon 22-37 del, Exon 22-41 del, Exon 22-47 del, Exon 2-29 del, Exon 2-30 del, Exon 24-26 del, Exon 24-27 del, Exon 2-44 del, Exon 2-6 del, Exon 26-43 del, Exon 26-44 del, Exon 2-7 del, Exon 28-49 del, Exon 30-42 del, Exon 3-11 del, Exon 3-12 del, Exon 3-13 del, Exon 31-40 del, Exon 31-43 del, Exon 3-15 del, Exon 31-57 del, Exon 3-16 del, Exon 3-17 del, Exon 3-19 del, Exon 3-20 del, Exon 3-21 del, Exon 3-24 del, Exon 3-25 del, Exon 3-26 del, Exon 3-27 del, Exon 3-28 del, Exon 3-29 del, Exon 3-30 del, Exon 3-34 del, Exon 33-43 del, Exon 33-45 del, Exon 3-37 del, Exon 3-4 del, Exon 3-41 del, Exon 3-42 del, Exon 3-43 del, Exon 3-44 del, Exon 35-42 del, Exon 35-43 del, Exon 35-44 del, Exon 35-45 del, Exon 3-6 del, Exon 3-7 del, Exon 37-43 del, Exon 3-8 del, Exon 38-43 del, Exon 39-43 del, Exon 4-12 del, Exon 4-13 del, Exon 4-17 del, Exon 4-18 del, Exon 4-19 del, Exon 4-22 del, Exon 42-43 del, Exon 42-45 del, Exon 42-50 del, Exon 42-53 del, Exon 4-30 del, Exon 43-50 del, Exon 43-51 del, Exon 43-52 del, Exon 44-45 del, Exon 44-47 del, Exon 44-49 del, Exon 44-51 del, Exon 44-52 del, Exon 44-53 del, Exon 44-55 del, Exon 44-60 del, Exon 45-46 del, Exon 45-47 del, Exon 45-48 del, Exon 45-49 del, Exon 45-50 del, Exon 45- 51 del, Exon 45-52 del, Exon 45-53 del, Exon 45-54 del, Exon 45-55 del, Exon 45-57 del, Exon 45-58 del, Exon 45-59 del, Exon 45-60 del, Exon 45-62 del, Exon 45-79 del, Exon 4-6 del, Exon 46-47 del, Exon 46-48 del, Exon 46-49 del, Exon 46-50 del, Exon 46-51 del, Exon 46-52 del, Exon 46-53 del, Exon 46-54 del, Exon 46-55 del, Exon 46-60 del, Exon 4-7 del, Exon 47-48 del, Exon 47-49 del, Exon 47-50 del, Exon 47-51 del, Exon 47-52 del, Exon 47-53 del, Exon 47-55 del, Exon 48-49 del, Exon 48-50 del, Exon 48-51 del, Exon 48-52 del, Exon 48-53 del, Exon 48-54 del, Exon 4-9 del, Exon 49-50 del, Exon 49-51 del, Exon 49-52 del, Exon 49-53 del, Exon 49-54 del, Exon 49-57 del, Exon 50-51 del, Exon 50-52 del, Exon 50-53 del, Exon 50-54 del, Exon 50-56 del, Exon 50-59 del, Exon 5-13 del, Exon 51-52 del, Exon 51-53 del, Exon 51-54 del, Exon 51-55 del, Exon 51-60 del, Exon 5-18 del, Exon 52-53 del, Exon 52-55 del, Exon 52-59 del, Exon 52-60 del, Exon 52- 61 del, Exon 52-62 del, Exon 5-29 del, Exon 53-54 del, Exon 53-55 del, Exon 53-56 del, Exon 53-59 del, Exon 53-60 del, Exon 5-37 del, Exon 5-41 del, Exon 5-42 del, Exon 5-50 del, Exon 5-55 del, Exon 55-59 del, Exon 55-61 del, Exon 55-63 del, Exon 55-77 del, Exon 56-61 del, Exon 56-62 del, Exon 56-76 del, Exon 56-79 del, Exon 58-59 del, Exon 5-9 del, Exon 60-63 del, Exon 6-13 del, Exon 6-16 del, Exon 61- 62 del, Exon 61-63 del, Exon 61-64 del, Exon 61-67 del, Exon 6-17 del, Exon 61-79 del, Exon 6-19 del, Exon 6-27 del, Exon 63-79 del, Exon 64-67 del, Exon 64-79 del, Exon 65-67 del, Exon 65-76 del, Exon 6-7 del, Exon 67-69 del, Exon 67-71 del, Exon 6-8 del, Exon 68-73 del, Exon 71-74 del, Exon 72-79 del, Exon 7-28 del, Exon 7-29 del, Exon 73-76 del, Exon 75-76 del, Exon 75-79 del, Exon 7-8 del, Exon 8-11 del, Exon 8-12 del, Exon 8-13 del, Exon 8-15 del, Exon 8-16 del, Exon 8-18 del, Exon 8-19 del, Exon 8-20 del, Exon 8-21 del, Exon 8-22 del, Exon 8-28 del, Exon 8-29 del, Exon 8-30 del, Exon 8-31 del, Exon 8-32 del, Exon 8-34 del, Exon 8-39 del, Exon 8-41 del, Exon 8-44 del, Exon 8-45 del, Exon 8-47 del, Exon 8-55 del, Exon 8-9 del, Exon 9-12 del, Exon 9-34 del, Exon 10-11 dup, Exon 10-16 dup, Exon 10-17 dup, Exon 10-18 dup, Exon 10-19 dup, Exon 10-44 dup, Exon 1-11 dup, Exon 11-40 dup, Exon 12-13 dup, Exon 12-15 dup, Exon 12-19 dup, Exon 12-20 dup, Exon 12-26 dup, Exon 12-30 dup, Exon 12-41 dup, Exon 12-44 dup, Exon 13-17 dup, Exon 13-19 dup, Exon 13-20 dup, Exon 13-29 dup, Exon 13-40 dup, Exon 13-42 dup, Exon 13-44 dup, Exon 1-40 dup, Exon 14-17 dup, Exon 14-18 dup, Exon 14-21 dup, Exon 14-32 dup, Exon 14-34 dup, Exon 14-42 dup, Exon 1-6 dup, Exon 16-17 dup, Exon 16-34 dup, Exon 16-41 dup, Exon 16-42 dup, Exon 17-18 dup, Exon 17-19 dup, Exon 17-41 dup, Exon 1-8 dup, Exon 18-23 dup, Exon 18-27 dup, Exon 18-29 dup, Exon 18-32 dup, Exon 18-33 dup, Exon 18-37 dup, Exon 18-38 dup, Exon 19-41 dup, Exon 19-43 dup, Exon 19-44 dup, Exon 19-45 dup, Exon 19-52 dup, Exon 20-21 dup, Exon 20-27 dup, Exon 20-29 dup, Exon 20-41 dup, Exon 20-43 dup, Exon 20-44 dup, Exon 2-10 dup, Exon 2-11 dup, Exon 21-29 dup, Exon 2-15 dup, Exon 22-25 dup, Exon 22-29 dup, Exon 22-41 dup, Exon 2-26 dup, Exon 2-29 dup, Exon 2-3 dup, Exon 2-33 dup, Exon 2-34 dup, Exon 2-4 dup, Exon 2-5 dup, Exon 2-6 dup, Exon 2-7 dup, Exon 27-30 dup, Exon 2-9 dup, Exon 29-43 dup, Exon 30-35 dup, Exon 30- 42 dup, Exon 30-43 dup, Exon 3-10 dup, Exon 3-11 dup, Exon 3-12 dup, Exon 3-13 dup, Exon 31-32 dup, Exon 31-45 dup, Exon 3-15 dup, Exon 3-16 dup, Exon 3-18 dup, Exon 3-19 dup, Exon 3-20 dup, Exon 3-25 dup, Exon 3-30 dup, Exon 33-34 dup, Exon 3-34 dup, Exon 33-44 dup, Exon 33-60 dup, Exon 3-38 dup, Exon 3-4 dup, Exon 3-41 dup, Exon 3-43 dup, Exon 3-44 dup, Exon 34-41 dup, Exon 3-5 dup, Exon 35-44 dup, Exon 3-6 dup, Exon 36-44 dup, Exon 3-7 dup, Exon 37-43 dup, Exon 3-8 dup, Exon 38-42 dup, Exon 38-44 dup, Exon 38-45 dup, Exon 3-9 dup, Exon 41-44 dup, Exon 4-17 dup, Exon 4-19 dup, Exon 42-43 dup, Exon 42-47 dup, Exon 43-44 dup, Exon 44-47 dup, Exon 44-49 dup, Exon 44-50 dup, Exon 44-52 dup, Exon 44-55 dup, Exon 44-57 dup, Exon 45-47 dup, Exon 45-49 dup, Exon 45-50 dup, Exon 45- 51 dup, Exon 45-52 dup, Exon 45-55 dup, Exon 45-56 dup, Exon 45-59 dup, Exon 45-61 dup, Exon 45-65 dup, Exon 46-47 dup, Exon 46-48 dup, Exon 46-49 dup, Exon 46-51 dup, Exon 46-52 dup, Exon 46-60 dup, Exon 47-49 dup, Exon 47-54 dup, Exon 48-49 dup, Exon 48-50 dup, Exon 48-52 dup, Exon 49-50 dup, Exon 49-51 dup, Exon 49-55 dup, Exon 49-60 dup, Exon 50-52 dup, Exon 50-54 dup, Exon 50-55 dup, Exon 50-59 dup, Exon 50-62 dup, Exon 5-11 dup, Exon 51-55 dup, Exon 51-57 dup, Exon 52-55 dup, Exon 52-60 dup, Exon 52-62 dup, Exon 5-27 dup, Exon 5-33 dup, Exon 53-54 dup, Exon 53-55 dup, Exon 53-60 dup, Exon 53-63 dup, Exon 5-41 dup, Exon 5-44 dup, Exon 54-57 dup, Exon 55-60 dup, Exon 55-63 dup, Exon 55-76 dup, Exon 5-6 dup, Exon 56-57 dup, Exon 56-61 dup, Exon 56-62 dup, Exon 56-63 dup, Exon 56-64 dup, Exon 56-66 dup, Exon 56-77 dup, Exon 5-7 dup, Exon 57-60 dup, Exon 58-63 dup, Exon 5-9 dup, Exon 61-62 dup, Exon 61-63 dup, Exon 61-64 dup, Exon 63-79 dup, Exon 64-67 dup, Exon 66-67 dup, Exon 6-67 dup, Exon 6-7 dup, Exon 69-79 dup, Exon 8-10 dup, Exon 8-11 dup, Exon 8-12 dup, Exon 8-13 dup, Exon 8-15 dup, Exon 8-16 dup, Exon 8-29 dup, Exon 8-30 dup, Exon 8-44 dup, Exon 8-9 dup, Exon 9-16 dup, Exon 9-41 dup[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Dyskeratosis Congenita, Autosomal Recessive 1″][vc_column_text]Condition Gene/Varient
Dyskeratosis Congenita, Autosomal Recessive 1 Gene:NOP10. Exons: NM_018648.3:1-2. Variants(1): c.100C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Dyskeratosis Congenita, Autosomal Recessive 2″][vc_column_text]Condition Gene/Varient
Dyskeratosis Congenita, Autosomal Recessive 2 Gene:NHP2. Exons: NM_017838.3:1-4. Variants(2): c.460T>A, c.415T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Dyskeratosis Congenita, Autosomal Recessive 4″][vc_column_text]Condition Gene/Varient
Dyskeratosis Congenita, Autosomal Recessive 4 Gene:TERT. Exons: NM_198253.2:2-7,9-16. Variants(3): c.2110C>T, c.2431C>T, c.2701C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Dyskeratosis Congenita, X-linked”][vc_column_text]Condition Gene/Varient
Dyskeratosis Congenita, X-linked Gene:DKC1. Exons: NM_001363.3:1-15. Variants(7): c.106T>G, c.115A>G, c.91C>G, c.146C>T, c.113T>C, c.214_215delCTinsTA, c.196A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Dystonia 16″][vc_column_text]Condition Gene/Varient
Dystonia 16 Gene:PRKRA. Exons: NM_003690.4:2-8. Variants(2): c.267_268delTA, c.665C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Early Infantile Epileptic Encephalopathy 3″][vc_column_text]Condition Gene/Varient
Early Infantile Epileptic Encephalopathy 3 Gene:SLC25A22. Exons: NM_024698.5:2-10. Variants(2): c.706G>T, c.617C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”EEM Syndrome(Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy)”][vc_column_text]Condition Gene/Varient
EEM Syndrome(Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy) Gene:CDH3. Exons: NM_001793.4:1-16. Variants(3): c.965A>T, c.1508G>A, c.830delG
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ehlers-Danlos Syndrome Type VI”][vc_column_text]Condition Gene/Varient
Ehlers-Danlos Syndrome Type VI Gene:PLOD1. Exons: NM_000302.3:1-19. Variants(5): c.2032G>A, c.955C>T, c.1533C>G, c.1836G>C, c.2008C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ehlers-Danlos Syndrome Type VIIC”][vc_column_text]Condition Gene/Varient
Ehlers-Danlos Syndrome Type VIIC Gene:ADAMTS2. Exons: NM_014244.4:2-22. Variants(2): c.2384G>A, c.673C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ehlers-Danlos syndrome, cardiac valvular form”][vc_column_text]Condition Gene/Varient
Ehlers-Danlos syndrome, cardiac valvular form Gene:COL1A2. Exons: NM_000089.3:1,3-52. Variants(5): c.1404+1G>A, c.1404+1G>C, c.293_294insC, c.3601G>T, c.540+5G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Enhanced S-cone Syndrome”][vc_column_text]Condition Gene/Varient
Enhanced S-cone Syndrome Gene:NR2E3. Exons: NM_014249.2:1-8. Variants(4): c.119-2A>C, c.932G>A, c.226C>T, c.227G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Epidermolysis Bullosa Pruriginosa”][vc_column_text]Condition Gene/Varient
Epidermolysis Bullosa Pruriginosa Gene:COL7A1. Exons: NM_000094.3:1-118. Variants(18): c.2471_2472insG, c.7411C>T, c.4119+1G>T, c.7787delG, c.8479C>T, c.6091G>A, c.4039G>C, c.425A>G, c.427-2A>G, c.3861delG, c.8245G>A, c.5532+1G>A, c.6187C>T, c.933C>A, c.5821-1G>A, c.4888C>T, c.6205C>T, c.5819delC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Epidermolysis Bullosa Simplex with Pyloric Atresia”][vc_column_text]Condition Gene/Varient
Epidermolysis Bullosa Simplex with Pyloric Atresia Gene:PLEC. Exons: NM_000445.3:2-31,33. Variants(4): c.6955C>T, c.913C>T, c.12043_12044insG, c.9085C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ethylmalonic Encephalopathy”][vc_column_text]Condition Gene/Varient
Ethylmalonic Encephalopathy Gene:ETHE1. Exons: NM_014297.3:2-7. Variants(5): c.604dupG, c.487C>T, c.221dupA, c.440_450delACAGCATGGCC, c.554T>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Factor V Deficiency”][vc_column_text]Condition Gene/Varient
Factor V Deficiency Gene:F5. Exons: NM_000130.4:1-25. Variants(5): c.1160T>C, c.5189A>G, c.2401C>T, c.6304C>T, c.439G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Familial Dysautonomia”][vc_column_text]Condition Gene/Varient
Familial Dysautonomia Gene:IKBKAP. Exons: NM_003640.3:2-37. Variants(3): c.2087G>C, c.2741C>T, c.2204+6T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Familial Exudative Vitreoretinopathy 4″][vc_column_text]Condition Gene/Varient
Familial Exudative Vitreoretinopathy 4 Gene:LRP5. Exons: NM_002335.2:2-23. Variants(5): c.804_813delGGGGAAGAGG, c.2254C>G, c.4099G>A, c.1709G>A, c.1828G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Familial Mediterranean Fever”][vc_column_text]Condition Gene/Varient
Familial Mediterranean Fever Gene:MEFV. Exons: NM_000243.2:1-10. Variants(11): c.2040G>A, c.1437C>G, c.2040G>C, c.1958G>A, c.2082G>A, c.2080A>G, c.2177T>C, c.800C>T, c.2282G>A, c.2230G>T, c.2076_2078delAAT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group A”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group A Gene:FANCA. Exons: NM_000135.2:2-43. Variants(5): c.2574C>G, c.1115_1118delTTGG, c.233_236delTTGA, c.4130C>G, c.3788_3790delTCT
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group C”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group C Gene:FANCC. Exons: NM_000136.2:2-15. Variants(6): c.1487T>G, c.1642C>T, c.67delG, c.553C>T, c.37C>T, c.456+4A>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group D1″][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group D1 Gene:BRCA2. Exons: NM_000059.3:2-27. Variants(8): c.8488-1G>A, c.9900dupA, c.4648G>T, c.7691_7692insAT, c.658_659delGT, c.631+1G>A, c.5837_5838delCAinsAG, c.631+2T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group E”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group E Gene:FANCE. Exons: NM_021922.2:2-10. Variants(3): c.1114-8G>A, c.355C>T, c.421C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group G”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group G Gene:FANCG. Exons: NM_004629.1:1-14. Variants(8): c.1066C>T, c.307+1G>C, c.1795_1804delTGGATCCGTC, c.637_643delTACCGCC, c.1480+1G>C, c.1183_1192delGAGGTGTTTT, c.925-2A>G, c.313G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group I”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group I Gene:FANCI. Exons: NM_001113378.1:2-38. Variants(2): c.3853C>T, c.3854G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group J”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group J Gene:BRIP1. Exons: NM_032043.2:2-20. Variants(2): c.1045G>C, c.2392C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group L”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group L Gene:FANCL. Exons: NM_018062.3:1-14. Variants(2): c.1096_1099dupATTA, c.1007_1009delTAT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group M”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group M Gene:FANCM. Exons: NM_020937.2:1-23. Variants(1): c.2171C>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group N”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group N Gene:PALB2. Exons: NM_024675.3:1-13. Variants(4): c.1653T>A, c.3116delA, c.2962C>T, c.3549C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group O”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group O Gene:RAD51C. Exons: NM_058216.1:1-9. Variants(1): c.773G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fanconi anemia, complementation group P”][vc_column_text]Condition Gene/Varient
Fanconi anemia, complementation group P Gene:SLX4. Exons: NM_032444.2:2-15. Variants(5): c.286delA, c.1093delC, c.514delC, c.1163+3_1163+4insT, c.1163+2T>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”FGA-Related Congenital Afibrinogenemia”][vc_column_text]Condition Gene/Varient
FGA-Related Congenital Afibrinogenemia Gene:FGA. Exons: NM_021871.2:1-5. Variants(3): c.1359dupC, c.1039C>T, c.510+1G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”FGB-Related Congenital Afibrinogenemia”][vc_column_text]Condition Gene/Varient
FGB-Related Congenital Afibrinogenemia Gene:FGB. Exons: NM_005141.4:1-8. Variants(3): c.1148T>G, c.1289G>A, c.794C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fibrochondrogenesis”][vc_column_text]Condition Gene/Varient
Fibrochondrogenesis Gene:COL11A1. Exons: NM_001854.3:1-67. Variants(2): c.2350G>C, c.1750dupG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Focal Segmental Glomerulosclerosis 3″][vc_column_text]Condition Gene/Varient
Focal Segmental Glomerulosclerosis 3 Gene:CD2AP. Exons: NM_012120.2:1-18. Variants(2): c.730-1delGinsCT, c.1834C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”FRAS1-Related Fraser Syndrome”][vc_column_text]Condition Gene/Varient
FRAS1-Related Fraser Syndrome Gene:FRAS1. Exons: NM_025074.6:1-74. Variants(7): c.8602C>T, c.6991_6992insGG, c.5605_5606insT, c.4271C>G, c.9013C>T, c.7682+1G>T, c.3799C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”FREM2-Related Fraser Syndrome”][vc_column_text]Condition Gene/Varient
FREM2-Related Fraser Syndrome Gene:FREM2. Exons: NM_207361.4:1-24. Variants(2): c.5914G>A, c.7519+1G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Friedreich Ataxia”][vc_column_text]Condition Gene/Varient
Friedreich Ataxia Gene:FXN. Exons: NM_000144.4:2-5. Variants(5): c.317T>G, c.517T>G, c.460A>T, c.389G>T, c.385-2A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Frontometaphyseal Dysplasia”][vc_column_text]Condition Gene/Varient
Frontometaphyseal Dysplasia Gene:FLNA. Exons: NM_001456.3:2-47. Variants(2): c.3557C>T, c.3476A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fucosidosis”][vc_column_text]Condition Gene/Varient
Fucosidosis Gene FUCA1. Exons: NM_000147.4:1-8. Variants(6): c.1229T>G, c.244C>T, c.1160G>A, c.1138G>T, c.1279C>T, c.648C>A:[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fuhrmann Dyndrome”][vc_column_text]Condition Gene/Varient
Fuhrmann Dyndrome Gene:WNT7A. Exons: NM_004625.3:1-4. Variants(1): c.325G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Fumarate Hydratase Deficiency”][vc_column_text]Condition Gene/Varient
Fumarate Hydratase Deficiency Gene:FH. Exons: NM_000143.3:1-10. Variants(2): c.1127A>C, c.521C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Galactosemia”][vc_column_text]Condition Gene/Varient
Galactosemia Gene:GALT. Exons: NM_000155.3:1-11. Variants(85): c.512T>C, c.563A>G, c.957C>G, c.1048A>G, c.1030C>T, c.337G>A, c.404C>T, c.221T>C, c.997C>G, c.379A>G, c.855G>T, c.938G>A, c.667C>A, c.1138T>C, c.595G>A, c.505C>A, c.610C>T, c.980T>C, c.692G>A, c.920C>A, c.425T>A, c.462G>A, c.677T>C, c.844C>G, c.428C>T, c.989C>T, c.1001A>G, c.160C>T, c.404C>G, c.1014C>G, c.290A>G, c.507+2T>C, c.580T>C, c.424A>G, c.619C>T, c.974C>T, c.238C>T, c.626A>G, c.199C>T, c.611G>C, c.377+1G>A, c.382G>A, c.1098C>A, c.691C>T, c.949delC, c.998G>A, c.948G>A, c.815G>A, c.899G>A, c.253-2A>G, c.776G>A, c.536G>A, c.1140A>C, c.524G>A, c.881T>A, c.452T>C, c.747G>A, c.602G>A, c.775C>T, c.855G>C, c.200G>A, c.82+2T>A, c.329- 2A>C, c.18delC, c.564+1G>A, c.130G>A, c.616C>T, c.821-2A>G, c.634C>T, c.490delC, c.967T>C, c.413C>T, c.824delT, c.1075A>T, c.626A>C, c.687G>T, c.947G>A, c.341A>C, c.25C>T, c.443G>A, c.958G>A, c.607G>A, c.122G>A, c.1030C>A, c.584T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Gaucher Disease, Atypical”][vc_column_text]Condition Gene/Varient
Gaucher Disease, Atypical Gene:PSAP. Exons: NM_002778.2:1-14. Variants(4): c.1288C>T, c.1145G>T, c.1144T>G, c.1046T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Gaucher Disease”][vc_column_text]Condition Gene/Varient
Gaucher Disease Gene:GBA. Exons: NM_001005741.2:.. Variants(4): c.1226A>G, c.115+1G>A, c.84dupG, c.1448T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Generalized arterial calcification of infancy 1″][vc_column_text]Condition Gene/Varient
Generalized arterial calcification of infancy 1 Gene:ENPP1. Exons: NM_006208.2:2-25. Variants(6): c.1112A>T, c.913C>A, c.783C>G, c.1612G>C, c.2677G>T, c.1025G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Giant Axonal Neuropathy”][vc_column_text]Condition Gene/Varient
Giant Axonal Neuropathy Gene:GAN. Exons: NM_022041.3:2-11. Variants(7): c.505G>A, c.1268T>C, c.1456G>A, c.413G>A, c.1447C>T, c.1429C>T, c.601C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”GLDC-Related Glycine Encephalopathy”][vc_column_text]Condition Gene/Varient
GLDC-Related Glycine Encephalopathy Gene:GLDC. Exons: NM_000170.2:2-25. Variants(4): c.1705G>A, c.1691G>T, c.2216G>A, c.1166C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glomerulosclerosis, Focal segmental,1″][vc_column_text]Condition Gene/Varient
Glomerulosclerosis, Focal segmental,1 Gene:ACTN4. Exons: NM_004924.4:2-21. Variants(3): c.776C>T, c.763A>G, c.784T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glutaric Acidemia I”][vc_column_text]Condition Gene/Varient
Glutaric Acidemia I Gene:GCDH. Exons: NM_000159.2:2-12. Variants(7): c.680G>C, c.1198G>A, c.1204C>T, c.1093G>A, c.1262C>T, c.883T>C, c.877G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glutaric Acidemia IIA”][vc_column_text]Condition Gene/Varient
Glutaric Acidemia IIA Gene:ETFA. Exons: NM_000126.3:1-12. Variants(3): c.470T>G, c.797C>T, c.346G>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”A Glutaric Acidemia IIB”][vc_column_text]Condition Gene/Varient
A Glutaric Acidemia IIB Gene:ETFB. Exons: NM_001985.2:1-6. Variants(2): c.491G>A, c.382G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glutaric Acidemia IIC”][vc_column_text]Condition Gene/Varient
Glutaric Acidemia IIC Gene:ETFDH. Exons: NM_004453.2:1-13. Variants(7): c.1448C>T, c.250G>A, c.380T>A, c.524G>A, c.1130T>C, c.524G>T, c.2T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glutathione Synthetase Deficiency”][vc_column_text]Condition Gene/Varient
Glutathione Synthetase Deficiency Gene:GSS. Exons: NM_000178.2:2-13. Variants(6): c.4delG, c.847C>T, c.799C>T, c.656A>G, c.491G>A, c.656A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type Ia”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type Ia Gene:G6PC. Exons: NM_000151.3:1-5. Variants(12): c.1039C>T, c.247C>T, c.370G>A, c.229T>C, c.551G>A, c.248G>A, c.883C>T, c.328G>A, c.380_381insTA, c.562G>C, c.497T>G, c.113A>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type Ib/Ic”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type Ib/Ic Gene:SLC37A4. Exons: NM_001164278.1:3-11. Variants(9): c.1108_1109delCT, c.1129G>T, c.83G>A, c.352T>C, c.1309C>T, c.1082G>A, c.706_708delGTG, c.287G>A, c.1081G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type II”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type II Gene:GAA. Exons: NM_000152.3:2-20. Variants(132): c.1843G>A, c.1636+5G>C, c.1856G>A, c.1798C>T, c.271delG, c.1115A>T, c.1796C>A, c.482_483delCC, c.896T>G, c.1333G>C, c.1826dupA, c.1703A>T, c.784G>A, c.1552- 3C>G, c.1935C>A, c.546G>T, c.923A>C, c.1222A>G, c.1064T>C, c.2741delAinsCAG, c.2269C>T, c.1548G>A, c.1210G>A, c.692+1G>C, c.2173C>T, c.1364A>T, c.670C>T, c.2281delGinsAT, c.1755-1G>A, c.1725C>A, c.935T>G, c.340_341insT, c.643G>T, c.2012T>G, c.2380delC, c.1585_1586delTCinsGT, c.1076-1G>C, c.794delG, c.710C>T, c.1687C>T, c.2846T>A, c.1978C>T, c.2331+4A>G, c.989G>A, c.1564C>G, c.623T>C, c.1082C>T, c.1933G>A, c.1802C>G, c.971C>T, c.1432G>A, c.1905C>A, c.1735G>A, c.307T>G, c.377G>A, c.1941C>G, c.1551+1G>C, c.2185delC, c.685_686insCGGC, c.1316T>A, c.1556T>C, c.875A>G, c.2174G>C, c.1377_1379delCGA, c.2014C>T, c.2040G>A, c.2608C>T, c.1561G>A, c.2646+2T>A, c.573C>A, c.2605delG, c.2560C>T, c.1979G>A, c.1724A>C, c.716delT, c.2140delC, c.925G>A, c.2815_2816delGT, c.1120T>C, c.172C>T, c.1696T>C, c.2331+2T>C, c.1076-22T>G, c.953T>C, c.872T>C, c.2041-2A>C, c.118C>T, c.2303C>G, c.2702T>A, c.1214T>C, c.1634C>T, c.1100G>A, c.877G>A, c.1799G>A, c.1327-2A>G, c.1655T>C, c.2432delT, c.1836C>G, c.1194+2T>A, c.1326+1G>A, c.2219_2220delTG, c.1927G>A, c.2132C>G, c.1375G>A, c.854C>G, c.988T>G, c.2015G>A, c.1827delC, c.1080C>G, c.1128_1129delGGinsC, c.1942G>A, c.1438-1G>C, c.2104C>T, c.2188G>T, c.18_25delGCCCTGCT, c.2662G>T, c.379_380delTG, c.1411_1414delGAGA, c.2024_2026delACA, c.2639C>A, c.525delT, c.722_723delTT, c.1857C>G, c.1555A>G, c.1441T>C, c.1309C>T, c.309C>A, c.1456G>C, c.399C>A, c.1124G>T, c.1437+2T>C, c.-32-3C>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type III”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type III Gene:AGL. Exons: NM_000642.2:2-34. Variants(13): c.2039G>A, c.3682C>T, c.3980G>A, c.16C>T, c.4529dupA, c.4260-12A>G, c.1999delC, c.18_19delGA, c.2590C>T, c.1222C>T, c.3965delT, c.4456delT, c.4342G>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type IV”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type IV Gene:GBE1. Exons: NM_000158.3:1-16. Variants(10): c.771T>A, c.1571G>A, c.986A>G, c.1883A>G, c.986A>C, c.1643G>A, c.1543C>T, c.1570C>T, c.671T>C, c.1774G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type IXc”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type IXc Gene:PHKG2. Exons: NM_000294.2:2-10. Variants(1): c.130C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type XI”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type XI Gene:LDHA. Exons: NM_005566.3:2-8. Variants(2): c.126+1G>A, c.640_641delCT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type XII”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type XII Gene:ALDOA. Exons: NM_000034.3:7-14. Variants(2): c.619G>A, c.386A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type XIII”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type XIII Gene:ENO3. Exons: NM_053013.3:2-12. Variants(2): c.467G>A, c.1121G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type XIV”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type XIV Gene:PGM1. Exons: NM_002633.2:1-11. Variants(2): c.1145-1G>C, c.343A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”GM1-Gangliosidosis”][vc_column_text]Condition Gene/Varient
GM1-Gangliosidosis Gene:GLB1. Exons: NM_000404.2:1-16. Variants(14): c.622C>T, c.1772A>G, c.245C>T, c.145C>T, c.1445G>A, c.1369C>T, c.176G>A, c.601C>T, c.947A>G, c.152T>C, c.1370G>A, c.1771T>A, c.1051C>T, c.202C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”GM2-Gangliosidosis, AB variant”][vc_column_text]Condition Gene/Varient
GM2-Gangliosidosis, AB variant Gene:GM2A. Exons: NM_000405.4:1-4. Variants(4): c.410delA, c.160G>T, c.412T>C, c.262_264delAAG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”GNE-Related Myopathy”][vc_column_text]Condition Gene/Varient
GNE-Related Myopathy Gene:GNE. Exons: NM_005476.5:2-12. Variants(6): c.1727G>A, c.737G>A, c.1714G>T, c.2086G>A, c.2135T>C, c.909T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”GRACILE Syndrome”][vc_column_text]Condition Gene/Varient
GRACILE Syndrome Gene:BCS1L. Exons: NM_004328.4:3-9. Variants(2): c.232A>G, c.166C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Greenberg dysplasia”][vc_column_text]Condition Gene/Varient
Greenberg dysplasia Gene:LBR. Exons: NM_002296.3:2-14. Variants(3): c.1748G>A, c.1402delT, c.32_35delTGGT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Griscelli Syndrome Type 1″][vc_column_text]Condition Gene/Varient
Griscelli Syndrome Type 1 Gene:MYO5A. Exons: NM_000259.3:2-41. Variants(1): c.2332C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Griscelli Syndrome Type 2″][vc_column_text]Condition Gene/Varient
Griscelli Syndrome Type 2 Gene:RAB27A. Exons: NM_004580.4:2-6. Variants(5): c.217T>G, c.352C>T, c.259G>C, c.389T>C, c.454G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Guanidinoaceteate Methyltransferase Deficiency”][vc_column_text]Condition Gene/Varient
Guanidinoaceteate Methyltransferase Deficiency Gene:GAMT. Exons: NM_000156.5:2-6. Variants(1): c.506G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Gyrate Atrophy Of the Choroid And Retina”][vc_column_text]Condition Gene/Varient
Gyrate Atrophy Of the Choroid And Retina Gene:OAT. Exons: NM_000274.3:2-10. Variants(25): c.1172G>A, c.952delG, c.824G>A, c.596C>A, c.159delC, c.627T>A, c.897C>G, c.1201G>T, c.278G>T, c.3G>A, c.1276C>T, c.268C>G, c.994G>A, c.952G>A, c.1180T>C, c.677C>T, c.955C>T, c.1205T>C, c.539G>C, c.1250C>T, c.1186C>T, c.901-2A>G, c.192_193delAG, c.533G>A, c.812G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”HADHA related Trifunctional Protein Deficiency”][vc_column_text]Condition Gene/Varient
HADHA related Trifunctional Protein Deficiency Gene:HADHA. Exons: NM_000182.4:1-20. Variants(1): c.1793_1794delAT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”HADHB related Trifunctional Protein Deficiency”][vc_column_text]Condition Gene/Varient
HADHB related Trifunctional Protein Deficiency Gene:HADHB. Exons: NM_000183.2:2-16. Variants(2): c.1331G>A, c.1364T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”HARP Syndrome”][vc_column_text]Condition Gene/Varient
HARP Syndrome Gene:PANK2. Exons: NM_153638.2:1-7. Variants(2): c.1441C>T, c.1413-1G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hemophilia A”][vc_column_text]Condition Gene/Varient
HARP Syndrome Gene:F8. Exons: NM_000132.3:1-26. Variants(508): c.1498delA, c.680G>A, c.4770T>A, c.541G>A, c.1009+1G>A, c.755_756delCA, c.6350T>G, c.5562G>A, c.1311delG, c.5219+1G>A, c.1520C>G, c.524A>G, c.5894G>T, c.5561G>A, c.3385delC, c.5904C>A, c.670+5G>A, c.242C>A, c.6967C>G, c.2048A>G, c.3619_3622delCACA, c.5981T>C, c.1538-2A>G, c.1420G>A, c.6743G>C, c.6115+4A>G, c.6464_6465delAA, c.2939delG, c.5665C>T, c.5452G>T, c.195C>A, c.1357G>T, c.1718G>A, c.1831C>T, c.6084delG, c.6325C>T, c.1325A>G, c.1026T>A, c.935T>C, c.1266_1270delTGACA, c.729delT, c.4483delG, c.6226G>T, c.1750delC, c.6193T>C, c.4339delG, c.5389C>T, c.6393G>A, c.1230_1232delGGA, c.6724-1G>A, c.658G>C, c.2384_2388delGAACA, c.144-2A>G, c.901C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Intron 22 inversion, Intron 1 inversion Hemophilia B”][vc_column_text]Condition Gene/Varient
Intron 22 inversion, Intron 1 inversion Hemophilia B Gene:F9. Exons: NM_000133.3:1-8. Variants(301): c.392-2A>G, c.60delA, c.1295G>A, c.1278delT, c.985delA, c.1342delT, c.1024delA, c.420A>T, c.272A>G, c.464G>A, c.520+2T>G, c.162G>C, c.545_546delCT, c.505T>C, c.281G>T, c.268C>T, c.774T>G, c.1256T>A, c.1067G>A, c.422G>A, c.407T>C, c.907delC, c.400T>C, c.174delG, c.80_83delAATG, c.1322A>G, c.229delG, c.782G>A, c.1173T>A, c.1097C>A, c.698C>A, c.280G>A, c.501G>T, c.735delT, c.572G>A, c.1136G>A, c.50T>A, c.260T>G, c.941A>G, c.416G>A, c.219A>C, c.914A>G, c.263G>A, c.284delA, c.179_180delTT, c.155T>C, c.237A>C, c.392-1G>T, c.534_535delTG, c.487dupC, c.679G>T, c.724-2A>G, c.990C>A, c.1031T>A, c.1187G>A, c.758G>A, c.344A>G, c.681_682insT, c.128G>A, c.317G>A, c.205T>C, c.781T>C, c.1070G>A, c.757G>A, c.1220G>A, c.138G>C, c.350G>A, c.862G>T, c.349T>A, c.412A>C, c.1361T>C, c.688G>A, c.881G>A, c.936C>A, c.127C>T, c.1064G>A, c.754T>C, c.603T>G, c.1142C>A, c.88G>A, c.1105C>G, c.1275A>C, c.214G>C, c.482A>G, c.236A>C, c.1068G>A, c.173G>A, c.1018G>T, c.305G>A, c.1235G>A, c.1301_1302delAG, c.278-3A>G, c.277G>A, c.687_689delTGG, c.1023C>A, c.278-12C>T, c.1304G>A, c.1025C>A, c.1146T>A, c.277+5G>C, c.427C>G, c.909delC, c.423C>A, c.478G>A, c.786T>G, c.547_548delGT, c.109G>A, c.1293G>A, c.967_974delGAACCCTT, c.682G>C, c.413A>G, c.775G>T, c.1144T>C, c.520+13A>G, c.83G>A, c.1088G>A, c.247_248insA, c.96delT, c.172G>A, c.1323T>G, c.722delA, c.917A>G, c.1213G>A, c.1343_1350delCCCGGTAT, c.838+2T>G, c.55delC, c.862delG, c.1188T>A, c.796G>A, c.1151G>C, c.892C>T, c.804T>G, c.454A>T, c.655C>T, c.1084A>G, c.1346G>A, c.1276A>C, c.471T>A, c.493G>T, c.1349A>G, c.291T>G, c.1325G>A, c.1274T>G, c.1109A>C, c.838+1G>C, c.533G>A, c.799delC, c.1357T>A, c.947T>C, c.157G>A, c.253-2A>G, c.676C>G, c.536G>A, c.827_828delCA, c.1219T>A, c.165_169delTGTTC, c.1181T>A, c.1185C>G, c.155delT, c.622G>T, c.212T>C, c.185_188delGAGA, c.874delC, c.223C>T, c.946A>T, c.1318A>G, c.689_691delGAG, c.905A>G, c.856_858delGAG, c.322delT, c.532T>C, c.723+2T>C, c.1328T>C, c.707G>A, c.199G>A, c.277+4A>G, c.800A>G, c.1217C>G, c.755G>A, c.1147C>A, c.799C>T, c.484C>A, c.373G>A, c.1241C>A, c.389delT, c.556delA, c.401G>A, c.324C>A, c.316G>A, c.89-6T>G, c.1231A>G, c.509G>A, c.370G>A, c.88+5G>A, c.145T>C, c.1151_1154delGATC, c.1150C>T, c.922delG, c.1244A>G, c.835G>A, c.813delT, c.1145G>A, c.1132G>T, c.1240C>A, c.83delG, c.723G>C, c.1058T>C, c.224G>A, c.1306G>A, c.479G>A, c.127delC, c.1294G>A, c.278A>G, c.1135C>G, c.1174A>G, c.252+5G>A, c.415G>A, c.1175delA, c.413delA, c.1129G>T, c.352T>A, c.226G>A, c.279T>A, c.1113C>A, c.59T>A, c.1183T>C, c.418dupA, c.568_569delAC, c.133_134insT, c.720G>A, c.808G>T, c.466T>C, c.942T>G, c.197A>T, c.219_220insA, c.253-3T>G, c.723+1G>T, c.1169T>C, c.252+1G>A, c.1069G>A, c.292G>T, c.957_958delGGinsC, c.1139C>A, c.1270T>C, c.677G>A, c.724-1G>A, c.1077_1078delCT, c.161_162delAG, c.932delA, c.761G>A, c.1348T>C, c.659delC, c.1324G>A, c.391+1G>C, c.719G>A, c.520+1G>T, c.1066T>A, c.1258G>T, c.783G>T, c.1297G>A, c.235G>A, c.287A>C, c.88+5_88+8delGTTT, c.449delA, c.414T>A, c.356G>A, c.470G>A, c.206G>A, c.82T>C, c.871G>A, c.328G>A, c.944A>G, c.1358G>A, c.148G>A, c.1189G>C, c.1168A>T, c.191G>A, c.278-1G>A, c.163T>A, c.392delA, c.668delA, c.278-2A>T, c.184A>T, c.286C>T, c.1052G>A, c.785T>C, c.659C>A, c.353G>A, c.1138G>A, c.190T>C, c.1074_1075delAG, c.1182G>A, c.434G>A, c.956T>C, c.453_454delCA, c.277+2T>C, c.508T>C, c.30delA, c.1183T>A, c.255_256delTG, c.391+2T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hereditary Fructose Intolerance”][vc_column_text]Condition Gene/Varient
Hereditary Fructose Intolerance Gene:ALDOB. Exons: NM_000035.3:2-9. Variants(7): c.10C>T, c.1005C>G, c.720C>A, c.178C>T, c.524C>A, c.360_363delCAAA, c.448G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum”][vc_column_text]Condition Gene/Varient
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Gene:SLC12A6. Exons: NM_133647.1:1- 25. Variants(5): c.619C>T, c.2436+1delG, c.3031C>T, c.1584_1585delCTinsG, c.2023C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hereditary Sensory and Autonomic Neuropathy IV”][vc_column_text]Condition Gene/Varient
Hereditary Sensory and Autonomic Neuropathy IV Gene:NTRK1. Exons: NM_001012331.1:2-16. Variants(9): c.1076A>G, c.1711G>C, c.1741A>G, c.2066C>T, c.851-33T>A, c.1908_1909insT, c.1709delT, c.1834G>T, c.2321G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hermansky-Pudlak Syndrome 1″][vc_column_text]Condition Gene/Varient
Hermansky-Pudlak Syndrome 1 Gene:HPS1. Exons: NM_000195.3:3-20. Variants(6): c.1472_1487dupCCAGCAGGGGAGGCCC, c.397G>T, c.972delC, c.398+5G>A, c.972_973insC, c.1996G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency”][vc_column_text]Condition Gene/Varient
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Gene:CBS. Exons: NM_000071.2:3-17. Variants(12): c.1330G>A, c.341C>T, c.430G>A, c.434C>T, c.502G>A, c.572C>T, c.1058C>T, c.797G>A, c.919G>A, c.1397C>T, c.1150A>G, c.1265C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hydrolethalus Syndrome 1″][vc_column_text]Condition Gene/Varient
Hydrolethalus Syndrome 1 Gene:HYLS1. Exons: NM_145014.2:4. Variants(1): c.632A>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hydrolethalus Syndrome 2″][vc_column_text]Condition Gene/Varient
Hydrolethalus Syndrome 2 Gene:KIF7. Exons: NM_198525.2:2-4,6-19. Variants(1): c.2896_2897delGC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hyper-IgD syndrome”][vc_column_text]Condition Gene/Varient
Hyper-IgD syndrome Gene:MVK. Exons: NM_000431.2:2-11. Variants(5): c.803T>C, c.829C>T, c.1129G>A, c.59A>C, c.494C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hypermethioninemia”][vc_column_text]Condition Gene/Varient
Hypermethioninemia Gene:MAT1A. Exons: NM_000429.2:1-9. Variants(9): c.1006G>A, c.164C>A, c.966T>G, c.790C>T, c.914T>C, c.1043_1044delTG, c.538_539insTG, c.1070C>T, c.827_828insG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome”][vc_column_text]Condition Gene/Varient
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Gene:SLC25A15. Exons: NM_014252.3:2-7. Variants(11): c.658G>A, c.562_564delTTC, c.824G>A, c.79G>A, c.815C>T, c.212T>A, c.535C>T, c.110T>G, c.95C>G, c.538G>A, c.569G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hyperprolinemia Type II”][vc_column_text]Condition Gene/Varient
Hyperprolinemia Type II Gene:ALDH4A1. Exons: NM_003748.3:2-15. Variants(1): c.1055C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hypomagnesemia 5″][vc_column_text]Condition Gene/Varient
Hypomagnesemia 5 Gene:CLDN19. Exons: NM_148960.2:1-5. Variants(3): c.169C>G, c.59G>A, c.269T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=” Hypomyelination and Congenital Cataract”][vc_column_text]Condition Gene/Varient
Hypomyelination and Congenital Cataract Gene:FAM126A. Exons: NM_032581.3:2-11. Variants(1): c.158T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hypoparathyroidism-Retardation-Dysmorphism Syndrome”][vc_column_text]Condition Gene/Varient
Hypoparathyroidism-Retardation-Dysmorphism Syndrome Gene:TBCE. Exons: NM_003193.3:2-17. Variants(2): c.1113T>A, c.66_67delAG
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hypophosphatasia”][vc_column_text]Condition Gene/Varient
Hypophosphatasia Gene:ALPL. Exons: NM_000478.4:2-12. Variants(20): c.979T>C, c.746G>T, c.211C>T, c.881A>C, c.535G>A, c.1366G>A, c.620A>C, c.571G>A, c.1559delT, c.1133A>T, c.98C>T, c.814C>T, c.346G>A, c.892G>A, c.1306T>C, c.1250A>G, c.1001G>A, c.526G>A, c.407G>A, c.212G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hypotrichosis, congenital, with juvenile macular dystrophy”][vc_column_text]Condition Gene/Varient
Hypotrichosis, congenital, with juvenile macular dystrophy Gene:CDH3. Exons: NM_001793.4:1-16. Variants(1): c.981delG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ichthyosis Follicularis-Atrichia-Photophobia Syndrome”][vc_column_text]Condition Gene/Varient
Ichthyosis Follicularis-Atrichia-Photophobia Syndrome Gene:MBTPS2. Exons: NM_015884.3:1-11. Variants(4): c.1286G>A, c.677G>T, c.1424T>C, c.261G>A IGF1[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Deficiency”][vc_column_text]Condition Gene/Varient
Deficiency Gene:IGF1. Exons: NM_000618.3:1-4. Variants(1): c.274G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Infantile Sialic acid Storage Disorder”][vc_column_text]Condition Gene/Varient
Infantile Sialic acid Storage Disorder Gene:SLC17A5. Exons: NM_012434.4:1-11. Variants(3): c.1001C>G, c.548A>G, c.918T>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Infantile Striatonigral Degeneration”][vc_column_text]Condition Gene/Varient
Infantile Striatonigral Degeneration Gene:NUP62. Exons: NM_153719.3:3. Variants(1): c.1172A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Infantile-Onset Spinocerebellar Ataxia”][vc_column_text]Condition Gene/Varient
Infantile Striatonigral Degeneration Gene:C10orf2. Exons: NM_021830.4:1-5. Variants(5): c.955A>G, c.1370C>T, c.1287C>T, c.952G>A, c.1523A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Isolated Growth Hormone Deficiency”][vc_column_text]Condition Gene/Varient
Isolated Growth Hormone Deficiency Gene:BTK. Exons: NM_000061.2:2-19. Variants(2): c.1625T>C, c.1125T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Isolated Microphthalmia 3″][vc_column_text]Condition Gene/Varient
Isolated Microphthalmia 3 Gene:RAX. Exons: NM_013435.2:1-2. Variants(3): c.575G>A, c.439C>T, c.909C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Isolated Microphthalmia 5″][vc_column_text]Condition Gene/Varient
Isovaleric Acidemia Gene:IVD. Exons: NM_002225.3:1-12. Variants(5): c.941C>T, c.1188delT, c.157C>T, c.605G>T, c.134T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”ITGA6-Related Epidermolysis Bullosa with Pyloric Atresia”][vc_column_text]Condition Gene/Varient
ITGA6-Related Epidermolysis Bullosa with Pyloric Atresia Gene:ITGA6. Exons: NM_000210.2:1-25. Variants(1): c.791delC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia”][vc_column_text]Condition Gene/Varient
ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia Gene:ITGB4. Exons: NM_001005731.1:2-39. Variants(14): c.112T>C, c.1684T>C, c.3841C>T, c.4410delG, c.4433G>A, c.467T>C, c.3977-19T>A, c.3674G>A, c.3801_3802insT, c.1150delG, c.3793+1G>A, c.1660C>T, c.182G>A, c.2792G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Johanson-Blizzard Syndrome”][vc_column_text]Condition Gene/Varient
Johanson-Blizzard Syndrome Gene:UBR1. Exons: NM_174916.2:1-47. Variants(2): c.407A>G, c.1537C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert Syndrome 1″][vc_column_text]Condition Gene/Varient
Joubert Syndrome 1 Gene:INPP5E. Exons: NM_019892.4:1-10. Variants(4): c.1132C>T, c.1543C>T, c.1688G>A, c.1304G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert Syndrome 10″][vc_column_text]Condition Gene/Varient
Joubert Syndrome 10 Gene:OFD1. Exons: NM_003611.2:1-23. Variants(2): c.2767delG, c.2844_2850delAGACAAA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert syndrome 13″][vc_column_text]Condition Gene/Varient
Joubert syndrome 13 Gene:TCTN1. Exons: NM_001082538.2:1-14. Variants(1): c.221-2A>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”G Joubert Syndrome 2″][vc_column_text]Condition Gene/Varient
G Joubert Syndrome 2 Gene:TMEM216. Exons: NM_001173990.2:1-5. Variants(2): c.218G>A, c.218G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert Syndrome 3″][vc_column_text]Condition Gene/Varient
Joubert Syndrome 3 Gene:AHI1. Exons: NM_017651.4:3-28. Variants(10): c.1328T>A, c.1303C>T, c.985C>T, c.2168G>A, c.1052G>T, c.1765C>T, c.1484G>A, c.3263_3264delGG, c.1051C>T, c.2370dupT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert Syndrome 5″][vc_column_text]Condition Gene/Varient
Joubert Syndrome 5 Gene:CEP290. Exons: NM_025114.3:2-54. Variants(5): c.21G>T, c.5668G>T, c.2249T>G, c.4723A>T, c.4656delA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert Syndrome 6″][vc_column_text]Condition Gene/Varient
Joubert Syndrome 6 Gene:TMEM67. Exons: NM_153704.5:1-28. Variants(3): c.755T>C, c.130C>T, c.1538A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert Syndrome 7″][vc_column_text]Condition Gene/Varient
Joubert Syndrome 7 Gene:RPGRIP1L. Exons: NM_015272.2:2-22,24-27. Variants(7): c.1975T>C, c.697A>T, c.1843A>C, c.2269delA, c.2413C>T, c.757C>T, c.2050C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert Syndrome 8″][vc_column_text]Condition Gene/Varient
Joubert Syndrome 8 Gene:ARL13B. Exons: NM_182896.2:1-10. Variants(3): c.236G>A, c.598C>T, c.246G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Joubert Syndrome 9″][vc_column_text]Condition Gene/Varient
Joubert Syndrome 9 Gene:CC2D2A. Exons: NM_001080522.2:3-38. Variants(5): c.4582C>T, c.3289delG, c.4667A>T, c.3364C>T, c.2848C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Kanzaki Disease”][vc_column_text]Condition Gene/Varient
Kanzaki Disease Gene:NAGA. Exons: NM_000262.2:1-9. Variants(3): c.985C>T, c.577G>T, c.986G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”KCNJ11-Related Congenital Hyperinsulinism”][vc_column_text]Condition Gene/Varient
KCNJ11-Related Congenital Hyperinsulinism Gene:KCNJ11. Exons: NM_000525.3:1. Variants(4): c.761C>T, c.440T>C, c.776A>G, c.36C>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Kelley-Seegmiller Syndrome”][vc_column_text]Condition Gene/Varient
Kelley-Seegmiller Syndrome Gene:HPRT1. Exons: NM_000194.2:2-9. Variants(4): c.193C>T, c.602A>G, c.239A>T, c.329C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Knobloch syndrome”][vc_column_text]Condition Gene/Varient
Knobloch syndrome Gene:COL18A1. Exons: NM_030582.3:1-41. Variants(2): c.3517_3518delCC, c.3618_3619delGG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Krabbe Disease”][vc_column_text]Condition Gene/Varient
Krabbe Disease Gene:GALC. Exons: NM_000153.3:2-17. Variants(5): c.1153G>T, c.1586C>T, c.1630G>A, c.857G>A, c.1796T>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”L1 Syndrome”][vc_column_text]Condition Gene/Varient
L1 Syndrome Gene:L1CAM. Exons: NM_000425.3:1-28. Variants(14): c.536T>G, c.924C>T, c.1792G>A, c.1354G>A, c.719C>T, c.3489_3490delTG, c.2432-19A>C, c.2254G>A, c.551G>A, c.791G>A, c.3581C>T, c.1108G>A, c.1939+5G>A, c.3458-1G>C LAMA2-Related Congenital Muscular Dystrophy. Gene:LAMA2. Exons: NM_000426.3:1-65. Variants(10): c.2098_2099delTT, c.8314delA, c.2901C>A, c.825delC, c.3718C>T, c.7732C>T, c.2049_2050delAG, c.7147C>T, c.9253C>T, c.4645C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”LAMA3-Related Junctional Epidermolysis Bullosa”][vc_column_text]Condition Gene/Varient
LAMA3-Related Junctional Epidermolysis Bullosa Gene:LAMA3. Exons: NM_000227.3:1-38. Variants(4): c.2116A>T, c.335delG, c.4135C>T, c.1981C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”LAMB3-Related Junctional Epidermolysis Bullosa”][vc_column_text]Condition Gene/Varient
LAMB3-Related Junctional Epidermolysis Bullosa Gene:LAMB3. Exons: NM_000228.2:2-23. Variants(10): c.1587_1588delAG, c.496C>T, c.727C>T, c.2806C>T, c.904delT, c.1903C>T, c.1830G>A, c.1438_1442delCCGTG, c.628G>A, c.124C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”LAMC2-Related Junctional Epidermolysis Bullosa”][vc_column_text]Condition Gene/Varient
LAMC2-Related Junctional Epidermolysis Bullosa Gene:LAMC2. Exons: NM_005562.2:1-23. Variants(8): c.1065C>G, c.1659C>A, c.3512_3513insA, c.2137_2143delCAGAACC, c.405-1G>A, c.1067-1G>A, c.283C>T, c.733C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Lathosterolosis”][vc_column_text]Condition Gene/Varient
Lathosterolosis Gene:SC5DL. Exons: NM_006918.4:2-5. Variants(1): c.86G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 1″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 1 Gene:GUCY2D. Exons: NM_000180.3:3-19. Variants(3): c.1694T>C, c.2945delG, c.622delC
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber congenital amaurosis 10″][vc_column_text]Condition Gene/Varient
Leber congenital amaurosis 10 Gene:CEP290. Exons: NM_025114.3:2-54. Variants(1): c.3185delT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 13″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 13 Gene:RDH12. Exons: NM_152443.2:3-9. Variants(13): c.379G>T, c.377C>T, c.295C>A, c.451C>G, c.152T>A, c.523T>C, c.184C>T, c.146C>T, c.806_810delCCCTG, c.464C>T, c.565C>T, c.677A>G, c.451C>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 14″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 14 Gene:LRAT. Exons: NM_004744.3:2-3. Variants(2): c.525T>A, c.217_218delAT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 15″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 15 Gene:TULP1. Exons: NM_003322.3:1-15. Variants(2): c.1204G>T, c.1198C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 16″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 16 Gene:KCNJ13. Exons: NM_002242.4:2-3. Variants(2): c.496C>T, c.722T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 2″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 2 Gene:RPE65. Exons: NM_000329.2:1-14. Variants(4): c.700C>T, c.907A>T, c.1067delA, c.1292A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 4″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 4 Gene:AIPL1. Exons: NM_014336.3:1-6. Variants(5): c.244C>T, c.715T>C, c.905G>T, c.589G>C, c.834G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 7″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 7 Gene:CRX. Exons: NM_000554.4:2-4. Variants(2): c.268C>T, c.529delG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 8″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 8 Gene:CRB1. Exons: NM_201253.2:1-12. Variants(4): c.2688T>A, c.2843G>A, c.3299T>G, c.3997G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leber Congenital Amaurosis 9″][vc_column_text]Condition Gene/Varient
Leber Congenital Amaurosis 9 Gene:NMNAT1. Exons: NM_022787.3:2-5. Variants(9): c.769G>A, c.457C>G, c.817A>G, c.25G>A, c.619C>T, c.710G>T, c.451G>T, c.507G>A, c.838T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Leigh Syndrome, French-Canadian Type”][vc_column_text]Condition Gene/Varient
Leigh Syndrome, French-Canadian Type Gene:LRPPRC. Exons: NM_133259.3:2-38. Variants(2): c.1061C>T, c.3830_3839delGTGGTGCAATinsAG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Lesch-Nyhan Syndrome”][vc_column_text]Condition Gene/Varient
Lesch-Nyhan Syndrome Gene:HPRT1. Exons: NM_000194.2:2-9. Variants(4): c.508C>T, c.170T>C, c.143G>A, c.212_213insG
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Lethal Acantholytic Epidermolysis Bullosa”][vc_column_text]Condition Gene/Varient
Lethal Acantholytic Epidermolysis Bullosa Gene:DSP. Exons: NM_004415.2:1-24. Variants(2): c.6370_6371delCT, c.5800C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Lethal Congenital Contracture Syndrome 1″][vc_column_text]Condition Gene/Varient
Lethal Congenital Contracture Syndrome 1 Gene:GLE1. Exons: NM_001003722.1:1-16. Variants(2): c.1849G>A, c.2051T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”LIG4 Syndrome”][vc_column_text]Condition Gene/Varient
LIG4 Syndrome Gene:LIG4. Exons: NM_002312.3:2. Variants(4): c.1738C>T, c.1406G>A, c.2440C>T, c.833G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Limb-Girdle Muscular Dystrophy Type 2A”][vc_column_text]Condition Gene/Varient
Limb-Girdle Muscular Dystrophy Type 2A Gene:CAPN3. Exons: NM_000070.2:1-24. Variants(9): c.956C>T, c.1469G>A, c.1795_1796insA, c.257C>T, c.2362_2363delAGinsTCATCT, c.328C>T, c.1715G>A, c.550delA, c.2306G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Limb-Girdle Muscular Dystrophy type 2B”][vc_column_text]Condition Gene/Varient
Limb-Girdle Muscular Dystrophy type 2B Gene:DYSF. Exons: NM_003494.3:1-35,37-55. Variants(5): c.2372C>G, c.5201A>G, c.895G>A, c.200_201delTGinsAT, c.1873G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Limb-Girdle Muscular Dystrophy type 2C”][vc_column_text]Condition Gene/Varient
Limb-Girdle Muscular Dystrophy type 2C Gene:SGCG. Exons: NM_000231.2:2-8. Variants(2): c.787G>A, c.848G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Limb-Girdle Muscular Dystrophy type 2D”][vc_column_text]Condition Gene/Varient
Limb-Girdle Muscular Dystrophy type 2D Gene:SGCA. Exons: NM_000023.2:1-9. Variants(4): c.293G>A, c.574C>T, c.739G>A, c.229C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Limb-Girdle Muscular Dystrophy type 2E”][vc_column_text]Condition Gene/Varient
Limb-Girdle Muscular Dystrophy type 2E Gene:SGCB. Exons: NM_000232.4:2-6. Variants(7): c.272G>T, c.452C>G, c.299T>A, c.323T>G, c.552T>G, c.341C>T, c.272G>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Limb-Girdle Muscular Dystrophy type 2G”][vc_column_text]Condition Gene/Varient
Limb-Girdle Muscular Dystrophy type 2G Gene:TCAP. Exons: NM_003673.3:1-2. Variants(1): c.157C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Limb-Girdle Muscular Dystrophy type 2H”][vc_column_text]Condition Gene/Varient
Limb-Girdle Muscular Dystrophy type 2H Gene:TRIM32. Exons: NM_012210.3:2. Variants(3): c.1560delC, c.1181G>A, c.1459G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Limb-Girdle Muscular Dystrophy Type 2L”][vc_column_text]Condition Gene/Varient
Limb-Girdle Muscular Dystrophy Type 2L Gene:ANO5. Exons: NM_213599.2:1-22. Variants(6): c.2311_2312delCA, c.1407+5G>A, c.191_192insA, c.1295C>G, c.2272C>T, c.692G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Lipoid Congenital Adrenal Hyperplasia”][vc_column_text]Condition Gene/Varient
Lipoid Congenital Adrenal Hyperplasia Gene:STAR. Exons: NM_000349.2:1-7. Variants(8): c.562C>T, c.650G>C, c.545G>A, c.772C>T, c.559G>A, c.577C>T, c.749G>A, c.545G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Lissencephaly with Cerebellar Hypoplasia”][vc_column_text]Condition Gene/Varient
Lissencephaly with Cerebellar Hypoplasia Gene:RELN. Exons: NM_005045.3:1-65. Variants(1): c.5615-1G>A Long-Chain[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hydroxyacyl-Coa Dehydrogenase Deficiency”][vc_column_text]Condition Gene/Varient
Hydroxyacyl-Coa Dehydrogenase Deficiency Gene:HADHA. Exons: NM_000182.4:1-20. Variants(4): c.2132_2133insC, c.1528G>C, c.1132C>T, c.1678C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Lujan-Fryns Syndrome”][vc_column_text]Condition Gene/Varient
Lujan-Fryns Syndrome Gene:MED12. Exons: NM_005120.2:1-41,43-45. Variants(1): c.3020A>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”G Macular Corneal Dystrophy”][vc_column_text]Condition Gene/Varient
G Macular Corneal Dystrophy Gene:CHST6. Exons: NM_021615.4:3. Variants(2): c.609C>A, c.599T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Malonyl-CoA Decarboxylase Deficiency”][vc_column_text]Condition Gene/Varient
Malonyl-CoA Decarboxylase Deficiency Gene:MLYCD. Exons: NM_012213.2:2-5. Variants(1): c.560C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mandibuloacral Dysplasia with type A lipodystrophy”][vc_column_text]Condition Gene/Varient
Mandibuloacral Dysplasia with type A lipodystrophy Gene:ZMPSTE24. Exons: NM_005857.4:1-10. Variants(5): c.1018T>C, c.743C>T, c.1349G>A, c.121C>T, c.1085_1086insT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mandibuloacral Dysplasia with type B lipodystrophy”][vc_column_text]Condition Gene/Varient
Mandibuloacral Dysplasia with type B lipodystrophy Gene:LMNA. Exons: NM_170707.3:1-12. Variants(6): c.1586C>T, c.1626G>C, c.1411C>T, c.1318G>A, c.1580G>A, c.1579C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Maple Syrup Urine Disease Type 1A”][vc_column_text]Condition Gene/Varient
Maple Syrup Urine Disease Type 1A Gene:BCKDHA. Exons: NM_000709.3:1-9. Variants(3): c.1312T>A, c.117delC, c.868G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Maple Syrup Urine Disease Type 1B”][vc_column_text]Condition Gene/Varient
Maple Syrup Urine Disease Type 1B Gene:BCKDHB. Exons: NM_183050.2:1-10. Variants(6): c.356T>G, c.1039-7_1039-4delTCTG, c.832G>A, c.616C>T, c.1114G>T, c.548G>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Maple Syrup Urine Disease Type 2″][vc_column_text]Condition Gene/Varient
Maple Syrup Urine Disease Type 2 Gene:DBT. Exons: NM_001918.3:1-11. Variants(5): c.1355A>G, c.1448G>T, c.294C>G, c.581C>G, c.827T>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Maple Syrup Urine Disease Type 3″][vc_column_text]Condition Gene/Varient
Maple Syrup Urine Disease Type 3 Gene:DLD. Exons: NM_000108.3:1-14. Variants(3): c.105_106insA, c.685G>T, c.1483A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Marinesco-Sj?gren syndrome”][vc_column_text]Condition Gene/Varient
Marinesco-Sj?gren syndrome Gene:SIL1. Exons: NM_022464.4:2-10. Variants(3): c.1370T>C, c.1312C>T, c.331C>T G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Martsolf Syndrome”][vc_column_text]Condition Gene/Varient
Martsolf Syndrome Gene:RAB3GAP2. Exons: NM_012414.3:1-35. Variants(1): c.3154G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”McKusick-Kaufman Syndrome”][vc_column_text]Condition Gene/Varient
McKusick-Kaufman Syndrome Gene:MKKS. Exons: NM_018848.3:3-6. Variants(3): c.724G>T, c.110A>G, c.250C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Meckel Syndrome 1″][vc_column_text]Condition Gene/Varient
Meckel Syndrome 1 Gene:MKS1. Exons: NM_017777.3:1-18. Variants(2): c.51_55dupCCGGG, c.80+2T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Meckel Syndrome 10″][vc_column_text]Condition Gene/Varient
Meckel Syndrome 10 Gene:B9D2. Exons: NM_030578.3:2-4. Variants(1): c.301A>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Meckel Syndrome 2″][vc_column_text]Condition Gene/Varient
Meckel Syndrome 2 Gene:TMEM216. Exons: NM_001173990.2:1-5. Variants(3): c.341T>G, c.253C>T, c.230G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Meckel Syndrome 3″][vc_column_text]Condition Gene/Varient
Meckel Syndrome 3 Gene:TMEM67. Exons: NM_153704.5:1-28. Variants(2): c.1127A>C, c.622A>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”T Meckel Syndrome 4″][vc_column_text]Condition Gene/Varient
T Meckel Syndrome 4 Gene:CEP290. Exons: NM_025114.3:2-54. Variants(2): c.384_387delTAGA, c.613C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Meckel Syndrome 5″][vc_column_text]Condition Gene/Varient
Meckel Syndrome 5 Gene:RPGRIP1L. Exons: NM_015272.2:2-22,24-27. Variants(3): c.2614C>T, c.1033C>T, c.394A>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”MECP2-Related Severe Neonatal Encephalopathy”][vc_column_text]Condition Gene/Varient
MECP2-Related Severe Neonatal Encephalopathy Gene:MECP2. Exons: NM_004992.3:2-4. Variants(6): c.410A>G, c.964C>T, c.419C>T, c.1282G>A, c.1180G>T, c.674C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Megalencephalic Leukoencephalopathy with Subcortical Cysts 1″][vc_column_text]Condition Gene/Varient
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 Gene:MLC1. Exons: NM_015166.3:2-12. Variants(8): c.278C>T, c.422A>G, c.274C>T, c.839C>T, c.423C>A, c.206C>T, c.135_136insC, c.178-10T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Metachromatic Leukodystrophy due to Arylsulfatase A”][vc_column_text]Condition Gene/Varient
Metachromatic Leukodystrophy due to Arylsulfatase A Gene:ARSA. Exons: NM_000487.5:1-8. Variants(12): c.1283C>T, c.769G>C, c.465+1G>A, c.257G>A, c.1401_1411delGTTAGACGCAG, c.739G>A, c.1232C>T, c.1210+1G>A, c.293C>T, c.641C>T, c.542T>G, c.302G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Metachromatic Leukodystrophy due to Saposin B Deficiency”][vc_column_text]Condition Gene/Varient
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene:PSAP. Exons: NM_002778.2:1-14. Variants(2): c.722G>C, c.643A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Methylmalonic Aciduria and Homocystinuria CblC type”][vc_column_text]Condition Gene/Varient
Methylmalonic Aciduria and Homocystinuria CblC type Gene:MMACHC. Exons: NM_015506.2:1-4. Variants(6): c.331C>T, c.394C>T, c.440G>C, c.482G>A, c.347T>C, c.271dupA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Methylmalonic Aciduria and Homocystinuria CblD type”][vc_column_text]Condition Gene/Varient
Methylmalonic Aciduria and Homocystinuria CblD type Gene:MMADHC. Exons: NM_015702.2:2-8. Variants(7): c.746A>G, c.748C>T, c.545C>A, c.160C>T, c.776T>C, c.419dupA, c.57_64delCTCTTTAG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mevalonic Aciduria”][vc_column_text]Condition Gene/Varient
Mevalonic Aciduria Gene:MVK. Exons: NM_000431.2:2-11. Variants(3): c.1000G>A, c.902A>C, c.928G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Microphthalmia with coloboma 8/Syndromic Microphthalmia 9″][vc_column_text]Condition Gene/Varient
Microphthalmia with coloboma 8/Syndromic Microphthalmia 9 Gene:STRA6. Exons: NM_022369.3:2-19. Variants(12): c.527_528insG, c.1678G>C, c.910_911delGGinsAA, c.1931C>T, c.878C>T, c.1521-1G>A, c.52_53delTAinsC, c.1964G>A, c.1963C>T, c.147delC, c.69G>A, c.277_278insCC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Minicore Myopathy With External Ophthalmoplegia”][vc_column_text]Condition Gene/Varient
Minicore Myopathy With External Ophthalmoplegia Gene:RYR1. Exons: NM_000540.2:1-90,92-106. Variants(6): c.1739_1742dupATCA, c.10343C>T, c.7268T>A, c.325C>T, c.14365-2A>T, c.5726_5727delAG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mitochondrial Complex III Deficiency Nuclear Type 1″][vc_column_text]Condition Gene/Varient
Mitochondrial Complex III Deficiency Nuclear Type 1 Gene:BCS1L. Exons: NM_004328.4:3-9. Variants(7): c.830G>A, c.296C>T, c.1057G>A, c.547C>T, c.464G>C, c.148A>G, c.133C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mitochondrial Complex III Deficiency nuclear Type 3″][vc_column_text]Condition Gene/Varient
Mitochondrial Complex III Deficiency nuclear Type 3 Gene:UQCRB. Exons: NM_006294.4:1-4. Variants(1): c.306_309delAAAA
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mitochondrial Complex III Deficiency nuclear Type 4″][vc_column_text]Condition Gene/Varient
Mitochondrial Complex III Deficiency nuclear Type 4 Gene:UQCRQ. Exons: NM_014402.4:2-3. Variants(1): c.134C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mitochondrial DNA depletion Syndrome 2″][vc_column_text]Condition Gene/Varient
Mitochondrial DNA depletion Syndrome 2 Gene:TK2. Exons: NM_004614.4:2-10. Variants(5): c.323C>T, c.361C>A, c.159C>G, c.268C>T, c.635T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mitochondrial DNA depletion Syndrome 3″][vc_column_text]Condition Gene/Varient
Mitochondrial DNA depletion Syndrome 3 Gene:DGUOK. Exons: NM_080916.2:1-7. Variants(4): c.679G>A, c.425G>A, c.763G>T, c.313C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mitochondrial DNA depletion Syndrome 6″][vc_column_text]Condition Gene/Varient
Mitochondrial DNA depletion Syndrome 6 Gene:MPV17. Exons: NM_002437.4:2-8. Variants(5): c.498C>A, c.149G>A, c.359G>A, c.148C>T, c.70G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mitochondrial DNA depletion Syndrome 9″][vc_column_text]Condition Gene/Varient
Mitochondrial DNA depletion Syndrome 9 Gene:SUCLG1. Exons: NM_003849.3:1-8. Variants(3): c.626C>A, c.97+3G>C, c.152_153delAT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Miyoshi Myopathy”][vc_column_text]Condition Gene/Varient
Miyoshi Myopathy Gene:DYSF. Exons: NM_003494.3:1-35,37-55. Variants(7): c.895G>T, c.6124C>T, c.1555G>A, c.1813C>T, c.5713C>T, c.2997G>T, c.3137G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”MMAA-Related Methylmalonic Acidemia”][vc_column_text]Condition Gene/Varient
MMAA-Related Methylmalonic Acidemia Gene:MMAA. Exons: NM_172250.2:2-7. Variants(4): c.503delC, c.433C>T, c.283C>T, c.620A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”MMAB-Related Methylmalonic Acidemia”][vc_column_text]Condition Gene/Varient
MMAB-Related Methylmalonic Acidemia Gene:MMAB. Exons: NM_052845.3:1-9. Variants(3): c.548A>T, c.556C>T, c.569G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mohr-Tranebjaerg Syndrome”][vc_column_text]Condition Gene/Varient
Mohr-Tranebjaerg Syndrome Gene:TIMM8A. Exons: NM_004085.3:1-2. Variants(3): c.112C>T, c.238C>T, c.198C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Molybdenum Cofactor Deficiency A”][vc_column_text]Condition Gene/Varient
Molybdenum Cofactor Deficiency A Gene:MOCS1. Exons: NM_005943.5:1-9. Variants(2): c.956G>A, c.217C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Molybdenum Cofactor Deficiency B”][vc_column_text]Condition Gene/Varient
Molybdenum Cofactor Deficiency B Gene:MOCS2. Exons: NM_176806.2:1-3. Variants(3): c.*422G>A, c.16C>T, c.*487A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”MORM Syndrome”][vc_column_text]Condition Gene/Varient
MORM Syndrome Gene:INPP5E. Exons: NM_019892.4:1-10. Variants(1): c.1879C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”MTHFR deficiency”][vc_column_text]Condition Gene/Varient
MTHFR deficiency Gene:MTHFR. Exons: NM_005957.4:2-12. Variants(6): c.1743G>A, c.1015T>G, c.968T>C, c.547C>T, c.1129C>T, c.971A>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucolipidosis II”][vc_column_text]Condition Gene/Varient
Mucolipidosis II Gene:GNPTAB. Exons: NM_024312.4:1-21. Variants(6): c.3173C>G, c.2681G>A, c.3503_3504delTC, c.1196C>T, c.310C>T, c.3565C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucolipidosis IV”][vc_column_text]Condition Gene/Varient
Mucolipidosis IV Gene:MCOLN1. Exons: NM_020533.2:2-14. Variants(5): c.1084G>T, c.1207C>T, c.964C>T, c.304C>T, c.406-2A>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucopolysaccharidosis Type I”][vc_column_text]Condition Gene/Varient
Mucopolysaccharidosis Type I Gene:IDUA. Exons: NM_000203.3:2-8,12-14. Variants(8): c.1960T>G, c.1037T>G, c.1855C>G, c.266G>A, c.1206G>A, c.1861C>T, c.208C>T, c.192C>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucopolysaccharidosis Type II”][vc_column_text]Condition Gene/Varient
Mucopolysaccharidosis Type II Gene:IDS. Exons: NM_000202.5:1-2,4-9. Variants(9): c.1425G>A, c.1464G>T, c.1327C>T, c.514C>T, c.1466G>C, c.1402C>T, c.1403G>T, c.1403G>A, c.998C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucopolysaccharidosis Type IIIA”][vc_column_text]Condition Gene/Varient
Mucopolysaccharidosis Type IIIA Gene:SGSH. Exons: NM_000199.3:2-8. Variants(10): c.1105G>A, c.892T>C, c.197C>G, c.1298G>A, c.383C>T, c.449G>A, c.1339G>A, c.220C>T, c.734G>A, c.617G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucopolysaccharidosis Type IIIC”][vc_column_text]Condition Gene/Varient
Mucopolysaccharidosis Type IIIC Gene:HGSNAT. Exons: NM_152419.2:2-18. Variants(8): c.1030C>T, c.493+1G>A, c.962T>G, c.1345dupG, c.525dupT, c.1553C>T, c.848C>T, c.372-2A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucopolysaccharidosis Type IIID”][vc_column_text]Condition Gene/Varient
Mucopolysaccharidosis Type IIID Gene:GNS. Exons: NM_002076.3:1-14. Variants(4): c.1169delA, c.1063C>T, c.1226dupG, c.1168C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucopolysaccharidosis Type IVB”][vc_column_text]Condition Gene/Varient
Mucopolysaccharidosis Type IVB Gene:GLB1. Exons: NM_000404.2:1-16. Variants(6): c.1527G>T, c.818G>T, c.1313G>A, c.1223A>C, c.1444C>T, c.1498A>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucopolysaccharidosis Type VI”][vc_column_text]Condition Gene/Varient
Mucopolysaccharidosis Type VI Gene:ARSB. Exons: NM_000046.3:2-8. Variants(6): c.629A>G, c.349T>C, c.410G>T, c.707T>C, c.1178A>C, c.1214G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mucopolysaccharidosis Type VII”][vc_column_text]Condition Gene/Varient
Mucopolysaccharidosis Type VII Gene:GUSB. Exons: NM_000181.3:1-12. Variants(15): c.442C>T, c.646C>T, c.526C>T, c.1061C>T, c.1144C>T, c.1831C>T, c.1244+1G>A, c.1338G>A, c.1069C>T, c.1484A>G, c.1050G>C, c.1881G>T, c.1856C>T, c.1730G>T, c.1521G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Mulibrey Nanism”][vc_column_text]Condition Gene/Varient
Mulibrey Nanism Gene:TRIM37. Exons: NM_015294.3:1-24. Variants(14): c.860G>A, c.2056C>T, c.227T>C, c.2212delG, c.1411C>T, c.1894_1895delGA, c.965G>T, c.855_860+2delTTTCAGGT, c.1346_1347insA, c.838_842delACTTT, c.326G>C, c.1037_1040dupAGAT, c.745C>T, c.496_500delAGGAA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) Type A1″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) Type A1 Gene:POMT1. Exons: NM_007171.3:2- 20. Variants(2): c.226G>A, c.907C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) Type A2″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) Type A2 Gene:POMT2. Exons: NM_013382.5:1- 21. Variants(5): c.1117G>T, c.2177G>A, c.1238G>C, c.1912C>T, c.1057G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) Type A3″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) Type A3 Gene:POMGNT1. Exons: NM_017739.3:2-22. Variants(7): c.932G>A, c.1425G>A, c.1539+1G>A, c.1539+1G>T, c.187C>T, c.652+1G>A, c.1864delC
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) Type A4″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) Type A4 Gene:FKTN. Exons: NM_001079802.1:3-11. Variants(2): c.509C>A, c.1112A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) type A6″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies) type A6 Gene:LARGE. Exons: NM_004737.4:3- 16. Variants(2): c.1483T>C, c.992C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental retardation) Type B1″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental retardation) Type B1 Gene:POMT1. Exons: NM_007171.3:2- 20. Variants(6): c.2163C>A, c.2005G>A, c.1540C>T, c.1746G>C, c.193G>A, c.1770G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation) Type B2″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation) Type B2 Gene:POMT2. Exons: NM_013382.5:1- 21. Variants(4): c.1941G>A, c.1997A>G, c.2242T>C, c.1445G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation) Type B3″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation) Type B3 Gene:POMGNT1. Exons: NM_017739.3:2- 22. Variants(2): c.1469G>A, c.1814G>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation) type B6″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation) type B6 Gene:LARGE. Exons: NM_004737.4:3- 16. Variants(1): c.1525G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (limb-girdle) Type C1″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (limb-girdle) Type C1 Gene:POMT1. Exons: NM_007171.3:2-20. Variants(1): c.598G>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (limb-girdle) Type C2″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (limb-girdle) Type C2 Gene:POMT2. Exons: NM_013382.5:1-21. Variants(2): c.551C>T, c.2243G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Muscular Dystrophy-Dystroglycanopathy (limb-girdle) Type C4″][vc_column_text]Condition Gene/Varient
Muscular Dystrophy-Dystroglycanopathy (limb-girdle) Type C4 Gene:FKTN. Exons: NM_001079802.1:3-11. Variants(3): c.340G>A, c.527T>C, c.920G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”MUT-Related Methylmalonic Acidemia”][vc_column_text]Condition Gene/Varient
MUT-Related Methylmalonic Acidemia Gene:MUT. Exons: NM_000255.3:2-13. Variants(10): c.2150G>T, c.2080C>T, c.313T>C, c.655A>T, c.1105C>T, c.278G>A, c.1867G>A, c.322C>T, c.643G>A, c.682C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Myopathy with Deficiency of ISCU. Gene:ISCU. Exons: NM_213595.2:2-5. Variants(1): c.149G>A Myotonia Congenita”][vc_column_text]Condition Gene/Varient
Myopathy with Deficiency of ISCU. Gene:ISCU. Exons: NM_213595.2:2-5. Variants(1): c.149G>A Myotonia Congenita Gene:CLCN1. Exons: NM_000083.2:1-23. Variants(5): c.501C>G, c.1238T>G, c.1453A>G, c.871G>A, c.2680C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”N-acetylglutamate synthase deficiency”][vc_column_text]Condition Gene/Varient
N-acetylglutamate synthase deficiency Gene:NAGS. Exons: NM_153006.2:2-7. Variants(6): c.971G>A, c.916-2A>T, c.1025delG, c.1299G>C, c.1307dupT, c.1289T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nanophthalmos 2″][vc_column_text]Condition Gene/Varient
Nanophthalmos 2 Gene:MFRP. Exons: NM_031433.2:1-13. Variants(4): c.1150_1151insC, c.545T>C, c.523C>T, c.498delC
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nemaline Myopathy 2″][vc_column_text]Condition Gene/Varient
Nemaline Myopathy 2 Gene:NEB. Exons: NM_004543.4:3-56,58-60,62-65,68-150. Variants(3): c.18318_18319delAG, c.19606G>T, c.19119_19120delGA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nemaline Myopathy 5″][vc_column_text]Condition Gene/Varient
Nemaline Myopathy 5 Gene:TNNT1. Exons: NM_003283.4:2-3,5-14. Variants(1): c.538G>
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”T Nephronophthisis 1″][vc_column_text]Condition Gene/Varient
T Nephronophthisis 1 Gene:NPHP1. Exons: NM_000272.3:1-20. Variants(2): c.1884+1G>T, c.80T>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”A Nephronophthisis 11″][vc_column_text]Condition Gene/Varient
A Nephronophthisis 11 Gene:TMEM67. Exons: NM_153704.5:1-28. Variants(4): c.2461G>A, c.1843T>C, c.869G>T, c.2461G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nephronophthisis 2″][vc_column_text]Condition Gene/Varient
Nephronophthisis 2 Gene:INVS. Exons: NM_014425.3:2-17. Variants(5): c.1453delC, c.2695C>T, c.2719C>T, c.1478T>C, c.1807C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nephropathic Cystinosis”][vc_column_text]Condition Gene/Varient
Nephropathic Cystinosis Gene:CTNS. Exons: NM_004937.2:3-12. Variants(10): c.969C>G, c.397_398delAT, c.357_360delCAGC, c.414G>A, c.853-3C>G, c.329G>T, c.1015G>A, c.416C>T, c.473T>C, c.283G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nephrotic Syndrome Type 1″][vc_column_text]Condition Gene/Varient
Nephrotic Syndrome Type 1 Gene:NPHS1. Exons: NM_004646.3:1-29. Variants(10): c.1481delC, c.2456A>T, c.121_122delCT, c.1307_1308dupAC, c.3250_3251insG, c.2464G>A, c.3478C>T, c.3325C>T, c.3250delG, c.793T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nephrotic Syndrome Type 2″][vc_column_text]Condition Gene/Varient
Nephrotic Syndrome Type 2 Gene:NPHS2. Exons: NM_014625.2:1-8. Variants(1): c.413G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nephrotic Syndrome Type 3″][vc_column_text]Condition Gene/Varient
Nephrotic Syndrome Type 3 Gene:PLCE1. Exons: NM_016341.3:2-32. Variants(8): c.4846C>T, c.3736C>T, c.961C>T, c.3846delG, c.3346C>T, c.1477C>T, c.4451C>T, c.5560C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neurodegeneration With Brain Iron Accumulation 2″][vc_column_text]Condition Gene/Varient
Neurodegeneration With Brain Iron Accumulation 2 Gene:PLA2G6. Exons: NM_003560.2:2-17. Variants(6): c.2370T>G, c.1894C>T, c.1634A>C, c.109C>T, c.929T>A, c.238G>
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”A Neuronal Ceroid-Lipofuscinoses 1″][vc_column_text]Condition Gene/Varient
A Neuronal Ceroid-Lipofuscinoses 1 Gene:PPT1. Exons: NM_000310.3:1-9. Variants(7): c.29T>A, c.223A>C, c.169_170insA, c.322G>C, c.236A>G, c.451C>T, c.364A>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neuronal Ceroid-Lipofuscinoses 10″][vc_column_text]Condition Gene/Varient
Neuronal Ceroid-Lipofuscinoses 10 Gene:CTSD. Exons: NM_001909.4:2-9. Variants(2): c.1149G>C, c.685T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neuronal Ceroid-Lipofuscinoses 2″][vc_column_text]Condition Gene/Varient
Neuronal Ceroid-Lipofuscinoses 2 Gene:TPP1. Exons: NM_000391.3:1-13. Variants(8): c.1340G>A, c.616C>T, c.857A>G, c.509-1G>C, c.1094G>A, c.622C>T, c.1093T>C, c.851G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neuronal Ceroid-Lipofuscinoses 3″][vc_column_text]Condition Gene/Varient
Neuronal Ceroid-Lipofuscinoses 3 Gene:CLN3. Exons: NM_001042432.1:2-16. Variants(2): c.597C>A, c.883G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neuronal Ceroid-Lipofuscinoses 4A”][vc_column_text]Condition Gene/Varient
Neuronal Ceroid-Lipofuscinoses 4A Gene:CLN6. Exons: NM_017882.2:2-7. Variants(3): c.308G>A, c.139C>T, c.200T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neuronal Ceroid-Lipofuscinoses 5″][vc_column_text]Condition Gene/Varient
Neuronal Ceroid-Lipofuscinoses 5 Gene:CLN5. Exons: NM_006493.2:1-4. Variants(2): c.1175_1176delAT, c.1054G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neuronal Ceroid-Lipofuscinoses 6″][vc_column_text]I am text block. Click edit button to change this text. Lorem ipsum dolor Condition Gene/Varient
Neuronal Ceroid-Lipofuscinoses 6 Gene:CLN6. Exons: NM_017882.2:2-7. Variants(3): c.316_317insC, c.214G>T, c.663C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neuronal Ceroid-Lipofuscinoses 7″][vc_column_text]Condition Gene/Varient
Neuronal Ceroid-Lipofuscinoses 7 Gene:MFSD8. Exons: NM_152778.2:2-13. Variants(6): c.1235C>T, c.1286G>A, c.362A>G, c.894T>G, c.881C>A, c.929G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Neuronal Ceroid-Lipofuscinoses 8″][vc_column_text]Condition Gene/Varient
Neuronal Ceroid-Lipofuscinoses 8 Gene:CLN8. Exons: NM_018941.3:2-3. Variants(5): c.611G>T, c.88G>C, c.789G>C, c.88delG, c.70C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Niemann-Pick Disease Type A”][vc_column_text]Condition Gene/Varient
Niemann-Pick Disease Type A Gene:SMPD1. Exons: NM_000543.4:1-6. Variants(5): c.1493G>T, c.996delC, c.1152G>A, c.911T>C, c.788T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Niemann-Pick Disease Type B”][vc_column_text]Condition Gene/Varient
Niemann-Pick Disease Type B Gene:SMPD1. Exons: NM_000543.4:1-6. Variants(3): c.1327C>T, c.1829_1831delGCC, c.1267C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Niemann-Pick Disease Type C1″][vc_column_text]Condition Gene/Varient
Niemann-Pick Disease Type C1 Gene:NPC1. Exons: NM_000271.4:2-25. Variants(16): c.3467A>G, c.3662delT, c.3263A>G, c.337T>C, c.2974G>A, c.2848G>A, c.3611_3614delTTAC, c.3107C>T, c.2873G>A, c.3104C>T, c.3175C>T, c.2932C>T, c.530G>A, c.2974G>T, c.3591+1G>A, c.3182T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Niemann-Pick Disease Type C2″][vc_column_text]Condition Gene/Varient
Niemann-Pick Disease Type C2 Gene:NPC2. Exons: NM_006432.3:1-5. Variants(11): c.441+1G>A, c.358C>T, c.27delG, c.111delG, c.199T>C, c.436C>T, c.82+2T>C, c.58G>T, c.352G>T, c.190+5G>A, c.115G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Night blindness, congenital stationary (complete) 1B, Autosomal Recessive”][vc_column_text]Condition Gene/Varient
Night blindness, congenital stationary (complete) 1B, Autosomal Recessive Gene:GRM6. Exons: NM_000843.3:2-10. Variants(7): c.2341G>A, c.719_720insG, c.727_728insG, c.2122C>T, c.1214T>C, c.1565G>A, c.1861C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Night blindness, congenital stationary (complete) 1E, Autosomal Recessive”][vc_column_text]Condition Gene/Varient
Night blindness, congenital stationary (complete) 1E, Autosomal Recessive Gene:GPR179. Exons: NM_001004334.2:1-11. Variants(6): c.278delC, c.187delC, c.598C>T, c.1784+1G>A, c.984delC, c.1807C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Night blindness, congenital stationary (complete)1A”][vc_column_text]Condition Gene/Varient
Night blindness, congenital stationary (complete)1A Gene:NYX. Exons: NM_022567.2:1. Variants(1): c.1049G>A Night blindness, congenital stationary (complete)1D. Gene:SLC24A1. Exons: NM_004727.2:2-10. Variants(1): c.1613_1614delTT
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nijmegen breakage syndrome”][vc_column_text]Condition Gene/Varient
Nijmegen breakage syndrome Gene:NBN. Exons: NM_002485.4:1-16. Variants(1): c.657_661delACAAA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Oculocutaneous Albinism Type 1″][vc_column_text]Condition Gene/Varient
Oculocutaneous Albinism Type 1 Gene:TYR. Exons: NM_000372.4:1-4. Variants(30): c.823G>T, c.1118C>A, c.265T>C, c.1012_1013insC, c.272G>A, c.1501dupC, c.896G>A, c.1A>G, c.230G>A, c.1164delT, c.572delG, c.707G>A, c.1209G>T, c.1265G>A, c.1336G>A, c.164G>A, c.140G>A, c.649C>T, c.1217C>T, c.1255G>A, c.1147G>A, c.616G>A, c.1146C>A, c.650G>A, c.1467dupT, c.242C>T, c.1342G>A, c.533G>A, c.732_733delTG, c.286dupA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Oculocutaneous Albinism Type 2″][vc_column_text]Condition Gene/Varient
Oculocutaneous Albinism Type 2 Gene:OCA2. Exons: NM_000275.2:2-24. Variants(8): c.79G>A, c.2037G>C, c.1465A>G, c.1960delG, c.1842+1G>T, c.1327G>A, c.2228C>T, c.1182G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Oculocutaneous Albinism Type 3″][vc_column_text]Condition Gene/Varient
Oculocutaneous Albinism Type 3 Gene:TYRP1. Exons: NM_000550.2:2-8. Variants(6): c.1120C>T, c.1103delA, c.107delT, c.497C>G, c.1057_1060delAACA, c.1067G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Oculocutaneous Albinism Type 4″][vc_column_text]Condition Gene/Varient
Oculocutaneous Albinism Type 4 Gene:SLC45A2. Exons: NM_016180.3:1-7. Variants(3): c.986delC, c.469G>A, c.1121delT
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Odontoonychodermal Dysplasia”][vc_column_text]Condition Gene/Varient
Odontoonychodermal Dysplasia Gene:WNT10A. Exons: NM_025216.2:1-3. Variants(3): c.321C>A, c.697G>T, c.383G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Oguchi Disease-1″][vc_column_text]Condition Gene/Varient
Oguchi Disease-1 Gene:SAG. Exons: NM_000541.4:2-16. Variants(5): c.926delA, c.577C>T, c.523C>T, c.874C>T, c.916G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ohdo Syndrome”][vc_column_text]Condition Gene/Varient
Ohdo Syndrome Gene:MED12. Exons: NM_005120.2:1-41,43-45. Variants(3): c.5185C>A, c.3443G>A, c.3493T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ornithine Transcarbamylase Deficiency”][vc_column_text]Condition Gene/Varient
Ornithine Transcarbamylase Deficiency Gene:OTC. Exons: NM_000531.5:1-10. Variants(14): c.386G>A, c.77G>A, c.829C>T, c.617T>G, c.332T>C, c.119G>A, c.646C>G, c.717+2T>C, c.259G>A, c.118C>T, c.148G>T, c.674C>T, c.460G>T, c.134T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Osteogenesis Imperfecta Type VII”][vc_column_text]Condition Gene/Varient
Osteogenesis Imperfecta Type VII Gene:CRTAP. Exons: NM_006371.4:2-7. Variants(2): c.561T>G, c.826C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Osteogenesis Imperfecta Type VIII”][vc_column_text]Condition Gene/Varient
Osteogenesis Imperfecta Type VIII Gene:LEPRE1. Exons: NM_022356.3:1-15. Variants(6): c.747delC, c.1080+1G>T, c.1473+1G>T, c.1102C>T, c.1365_1366delAGinsC, c.1656C>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Osteoporosis-Pseudoglioma Syndrome”][vc_column_text]Condition Gene/Varient
Osteoporosis-Pseudoglioma Syndrome Gene:LRP5. Exons: NM_002335.2:2-23. Variants(9): c.1282C>T, c.1481G>A, c.1468delG, c.2202G>A, c.1453G>T, c.2305delG, c.1708C>T, c.1584+1G>A, c.2557C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pancreatic Agenesis”][vc_column_text]Condition Gene/Varient
Pancreatic Agenesis Gene:PDX1. Exons: NM_000209.3:1. Variants(3): c.492G>T, c.533A>G, c.532G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pantothenate Kinase-Associated Neurodegeneration”][vc_column_text]Condition Gene/Varient
Pantothenate Kinase-Associated Neurodegeneration Gene:PANK2. Exons: NM_153638.2:1-7. Variants(5): c.790C>T, c.570C>G, c.1583C>T, c.1561G>A, c.533C>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”PCCA-Related Propionic Acidemia”][vc_column_text]Condition Gene/Varient
PCCA-Related Propionic Acidemia Gene:PCCA. Exons: NM_000282.3:1-24. Variants(3): c.1891G>C, c.412G>A, c.862A>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”PCCB-Related Propionic Acidemia”][vc_column_text]Condition Gene/Varient
PCCB-Related Propionic Acidemia Gene:PCCB. Exons: NM_000532.4:1-15. Variants(9): c.1283C>T, c.1173_1174insT, c.1228C>T, c.737G>T, c.1495C>T, c.502G>A, c.1534C>T, c.1304A>G, c.1540_1541insCCC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pelizaeus-Merzbacher Disease”][vc_column_text]Condition Gene/Varient
Pelizaeus-Merzbacher Disease Gene:PLP1. Exons: NM_000533.3:1-7. Variants(3): c.169G>T, c.725C>T, c.3G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Peroxisomal acyl-CoA oxidase deficiency”][vc_column_text]Condition Gene/Varient
Peroxisomal acyl-CoA oxidase deficiency Gene:ACOX1. Exons: NM_004035.6:1-14. Variants(4): c.442C>T, c.832A>G, c.926A>G, c.532G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Peroxisome biogenesis disorder 1″][vc_column_text]Condition Gene/Varient
Peroxisome biogenesis disorder 1 Gene:PEX1. Exons: NM_000466.2:1-24. Variants(4): c.2097_2098insT, c.1991T>C, c.2916delA, c.2528G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Peroxisome biogenesis disorder 2″][vc_column_text]Condition Gene/Varient
Peroxisome biogenesis disorder 2 Gene:PEX5. Exons: NM_001131025.1:2-16. Variants(2): c.1279C>T, c.1578T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Peroxisome biogenesis disorder 3″][vc_column_text]Condition Gene/Varient
Peroxisome biogenesis disorder 3 Gene:PEX12. Exons: NM_000286.2:1-3. Variants(3): c.691A>T, c.538C>T, c.959C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Peroxisome biogenesis disorder 5″][vc_column_text]Condition Gene/Varient
Peroxisome biogenesis disorder 5 Gene:PEX2. Exons: NM_000318.2:4. Variants(2): c.163G>A, c.355C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Peroxisome biogenesis disorder 6″][vc_column_text]Condition Gene/Varient
Peroxisome biogenesis disorder 6 Gene:PEX10. Exons: NM_153818.1:2-6. Variants(2): c.704_705insA, c.373C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Peroxisome biogenesis disorder 7″][vc_column_text]Condition Gene/Varient
Peroxisome biogenesis disorder 7 Gene:PEX26. Exons: NM_017929.5:2-6. Variants(5): c.254dupT, c.265G>A, c.34_35insC, c.292C>T, c.2T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Phenylketonuria”][vc_column_text]Condition Gene/Varient
Phenylketonuria Gene:PAH. Exons: NM_000277.1:1-13. Variants(203): c.165T>G, c.208_210delTCT, c.464G>A, c.932T>C, c.727C>T, c.805A>C, c.1021A>T, c.618C>A, c.441+1G>A, c.168+1G>A, c.896T>G, c.353-1G>C, c.204A>T, c.1A>G, c.1056delT, c.694C>T, c.728G>A, c.754C>T, c.122T>C, c.581T>C, c.1157A>G, c.782G>A, c.662A>G, c.943G>T, c.678G>C, c.763T>G, c.977G>A, c.901C>T, c.559T>C, c.1089delG, c.721C>T, c.913-7A>G, c.775G>A, c.611A>G, c.997C>T, c.1200-8G>A, c.1084C>A, c.814G>T, c.1112A>G, c.1045T>C, c.975C>G, c.1232C>G, c.168+5G>A, c.558_559delAT, c.912+2T>C, c.818C>T, c.284_286delTCA, c.941C>A, c.1129delT, c.1055delG, c.608G>A, c.745C>T, c.442G>A, c.442-1G>A, c.841C>G, c.1197A>T, c.926C>A, c.136G>A, c.1161C>A, c.829T>G, c.183C>G, c.667A>T, c.691T>C, c.143T>C, c.1042C>G, c.1238G>C, c.737delC, c.1315+1G>A, c.911A>G, c.619A>G, c.1159T>C, c.842+5G>A, c.715G>A, c.491T>C, c.1315+6T>A, c.722delG, c.165delT, c.47_48delCT, c.1127delA, c.1172G>T, c.119C>T, c.439C>T, c.193A>G, c.671T>C, c.1196_1199delTAAG, c.1114A>T, c.521T>C, c.1220delC, c.1144T>C, c.482T>C, c.1315+2T>C, c.842+2T>A, c.398_401delATCA, c.355C>T, c.719T>C, c.838G>A, c.509+1G>A, c.58C>T, c.502T>C, c.806delT, c.826A>G, c.842+3G>C, c.740G>A, c.1289T>C, c.169-13T>G, c.1066-11G>A, c.241A>C, c.194T>A, c.968_970delCAA, c.442-2A>C, c.1200-1G>A, c.1315+4A>G, c.964G>A, c.960G>C, c.1200delG, c.111_112insC, c.503delA, c.1012G>T, c.776C>T, c.1199+1G>A, c.632delC, c.707-1G>A, c.789C>G, c.1180G>C, c.755G>A, c.692C>T, c.117C>G, c.884C>G, c.1199+2T>C, c.169-2A>G, c.199T>C, c.856G>A, c.529G>A, c.664_665delGA, c.953T>C, c.514C>T, c.970-2A>C, c.969+1G>A, c.724C>T, c.1183G>C, c.1006C>T, c.712A>C, c.441+3G>C, c.739G>A, c.259A>C, c.731C>T, c.847A>T, c.941delC, c.781C>T, c.1340C>A, c.580_581delCT, c.137delG, c.569T>C, c.635T>C, c.734T>A, c.1199G>A, c.733G>C, c.1033G>A, c.810A>T, c.473G>A, c.490A>G, c.208T>C, c.601C>T, c.916delA, c.665A>G, c.1229T>C, c.116_118delTCT, c.809G>A, c.648C>G, c.359G>A, c.264dupG, c.250G>T, c.1057delG, c.226G>T, c.842+1G>A, c.533A>G, c.907T>C, c.1301C>A, c.1222C>T, c.1024G>A, c.194T>C, c.441+5G>T, c.1024delG, c.508C>G, c.1065+1G>A, c.535T>C, c.1219C>T, c.1076C>G, c.331C>T, c.974A>G, c.889C>T, c.673C>A, c.311C>A, c.912+1G>A, c.1066-1G>A, c.764T>C, c.638T>C, c.890G>A, c.1220C>T, c.1068C>A, c.472C>T, c.1200-2A>G, c.842C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Phosphoribosylpyrophosphate Synthetase Superactivity”][vc_column_text]Condition Gene/Varient
Phosphoribosylpyrophosphate Synthetase Superactivity Gene:PRPS1. Exons: NM_002764.3:1-7. Variants(2): c.398A>C, c.455T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Phosphoserine Aminotransferase Deficiency”][vc_column_text]Condition Gene/Varient
Phosphoserine Aminotransferase Deficiency Gene:PSAT1. Exons: NM_058179.2:1-9. Variants(1): c.299A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”POLG-Related Disorders”][vc_column_text]Condition Gene/Varient
POLG-Related Disorders Gene:POLG. Exons: NM_002693.2:2-23. Variants(18): c.695G>A, c.2591A>G, c.1879C>T, c.3218C>T, c.911T>G, c.2209G>C, c.679C>T, c.1399G>A, c.2557C>T, c.3630dupC, c.2243G>C, c.8G>C, c.752C>T, c.1491G>C, c.2794C>T, c.2T>C, c.2542G>A, c.2617G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pontocerebellar Hypoplasia”][vc_column_text]Condition Gene/Varient
Pontocerebellar Hypoplasia Gene:TSEN54. Exons: NM_207346.2:3-11. Variants(3): c.919G>T, c.736C>T, c.1027C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Autosomal Recessive Microcephaly 1″][vc_column_text]Condition Gene/Varient
Primary Autosomal Recessive Microcephaly 1 Gene:MCPH1. Exons: NM_024596.3:1-14. Variants(5): c.74C>G, c.566_567insA, c.215C>T, c.302C>G, c.427_428insA
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Autosomal Recessive Microcephaly 2″][vc_column_text]Condition Gene/Varient
Primary Autosomal Recessive Microcephaly 2 Gene:WDR62. Exons: NM_001083961.1:1-32. Variants(5): c.1313G>A, c.1531G>A, c.671G>C, c.193G>A, c.1408C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Autosomal Recessive Microcephaly 3″][vc_column_text]Condition Gene/Varient
Primary Autosomal Recessive Microcephaly 3 Gene:CDK5RAP2. Exons: NM_018249.4:1-38. Variants(6): c.4441C>T, c.4672C>T, c.246T>A, c.524_528delAGGCA, c.700G>T, c.4546G>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”T Primary Autosomal Recessive Microcephaly 5″][vc_column_text]Condition Gene/Varient
T Primary Autosomal Recessive Microcephaly 5 Gene:ASPM. Exons: NM_018136.4:1-28. Variants(64): c.4795C>T, c.9677dupG, c.2389C>T, c.7491_7495delTATTA, c.3527C>G, c.1729_1730delAG, c.3477_3481delCGCTA, c.9697C>T, c.3188T>G, c.6189T>G, c.9730C>T, c.1590delA, c.6337_6338delAT, c.1366G>T, c.5136C>A, c.1406_1413delATCCTAAA, c.8844delC, c.7894C>T, c.7761T>G, c.9178C>T, c.3796G>T, c.9595A>T, c.719_720delCT, c.1002delA, c.9238A>T, c.577C>T, c.9539A>C, c.3811C>T, c.9190C>T, c.7782_7783delGA, c.5149delA, c.9557C>G, c.440delA, c.8131_8132delAA, c.10059C>A, c.8668C>T, c.9747_9748delCT, c.1260_1266delTCAAGTC, c.1179delT, c.3055C>T, c.3082G>A, c.9789T>A, c.1990C>T, c.2938C>T, c.3663delG, c.2967G>A, c.9492T>G, c.4858_4859delAT, c.9159delA, c.9319C>T, c.8378delT, c.3710C>G, c.8508_8509delGA, c.4195dupA, c.9115_9118dupCATT, c.1154_1155delAG, c.6732delA, c.9685delA, c.7860_7861delGA, c.3978G>A, c.349C>T, c.1959_1962delCAAA, c.9754delA, c.4583delA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Autosomal Recessive Microcephaly 6″][vc_column_text]Condition Gene/Varient
Primary Autosomal Recessive Microcephaly 6 Gene:CENPJ. Exons: NM_018451.4:2-17. Variants(3): c.3704A>T, c.3243_3246delTCAG, c.18delC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Autosomal Recessive Microcephaly 7″][vc_column_text]Condition Gene/Varient
Primary Autosomal Recessive Microcephaly 7 Gene:STIL. Exons: NM_003035.2:2-17. Variants(4): c.2826+1G>A, c.3715C>T, c.2392T>G, c.3655delG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Autosomal Recessive Microcephaly 9″][vc_column_text]Condition Gene/Varient
Primary Autosomal Recessive Microcephaly 9 Gene:CEP152. Exons: NM_014985.3:2-26. Variants(1): c.794A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Coenzyme Q10 deficiency 1″][vc_column_text]Condition Gene/Varient
Primary Coenzyme Q10 deficiency 1 Gene:COQ2. Exons: NM_015697.7:2-7. Variants(3): c.890A>G, c.683A>G, c.590G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Coenzyme Q10 deficiency 2″][vc_column_text]Condition Gene/Varient
Primary Coenzyme Q10 deficiency 2 Gene:PDSS1. Exons: NM_014317.3:312. Variants(1): c.924T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Coenzyme Q10 deficiency 3″][vc_column_text]Condition Gene/Varient
Primary Coenzyme Q10 deficiency 3 Gene:PDSS2. Exons: NM_020381.3:1-8. Variants(2): c.964C>T, c.1145C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Coenzyme Q10 deficiency 4″][vc_column_text]Condition Gene/Varient
Primary Coenzyme Q10 deficiency 4 Gene:ADCK3. Exons: NM_020247.4:2-15. Variants(7): c.1645G>A, c.1541A>G, c.637C>T, c.1813_1814insG, c.815G>T, c.1651G>A, c.815G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Hyperoxaluria Type I”][vc_column_text]Condition Gene/Varient
Primary Hyperoxaluria Type I Gene:AGXT. Exons: NM_000030.2:1-11. Variants(12): c.454T>A, c.322T>C, c.466G>A, c.731T>C, c.613T>C, c.560C>T, c.697C>T, c.121G>A, c.508G>A, c.738G>A, c.33_34insC, c.245G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Primary Hyperoxaluria Type II”][vc_column_text]Condition Gene/Varient
Primary Hyperoxaluria Type II Gene:GRHPR. Exons: NM_012203.1:1-9. Variants(3): c.103delG, c.295C>T, c.403_404+2delAAGT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Progressive Myoclonic Epilepsy 1A”][vc_column_text]Condition Gene/Varient
Progressive Myoclonic Epilepsy 1A Gene:CSTB. Exons: NM_000100.3:1-3. Variants(2): c.212A>C, c.202C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pycnodysostosis”][vc_column_text]Condition Gene/Varient
Pycnodysostosis Gene:CTSK. Exons: NM_000396.3:2-8. Variants(5): c.721C>T, c.154A>T, c.236G>A, c.990A>G, c.926T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pyridoxal 5′-Phosphate-dependent Epilepsy”][vc_column_text]Condition Gene/Varient
Pyridoxal 5′-Phosphate-dependent Epilepsy Gene:PNPO. Exons: NM_018129.3:1-7. Variants(2): c.685C>T, c.784T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pyruvate Carboxylase Deficiency”][vc_column_text]Condition Gene/Varient
Pyruvate Carboxylase Deficiency Gene:PC. Exons: NM_000920.3:3-22. Variants(4): c.467G>A, c.1748G>T, c.434T>C, c.1828G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pyruvate Dehydrogenase Phosphatase Deficiency”][vc_column_text]Condition Gene/Varient
Pyruvate Dehydrogenase Phosphatase Deficiency Gene:PDP1. Exons: NM_018444.3:2. Variants(2): c.851_853delTTC, c.277G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pyruvate Kinase Deficiency”][vc_column_text]Condition Gene/Varient
Pyruvate Kinase Deficiency Gene:PKLR. Exons: NM_000298.5:1-11. Variants(8): c.110G>A, c.1261C>A, c.1675C>T, c.1529G>A, c.1151C>T, c.1436G>A, c.487C>T, c.1456C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Rabson-Mendenhall Syndrome”][vc_column_text]Condition Gene/Varient
Rabson-Mendenhall Syndrome Gene:INSR. Exons: NM_000208.2:2-22. Variants(1): c.3079C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”RAG1-Related Omenn Syndrome”][vc_column_text]Condition Gene/Varient
RAG1-Related Omenn Syndrome Gene:RAG1. Exons: NM_000448.2:2. Variants(3): c.1682G>A, c.1681C>T, c.983G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”RAG1-Related Severe Combined Immunodeficiency”][vc_column_text]Condition Gene/Varient
RAG1-Related Severe Combined Immunodeficiency Gene:RAG1. Exons: NM_000448.2:2. Variants(7): c.2320G>T, c.2164G>A, c.2326C>T, c.940C>T, c.2923C>T, c.2333G>A, c.2814T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”RAG2-Related Severe Combined Immunodeficiency”][vc_column_text]Condition Gene/Varient
RAG2-Related Severe Combined Immunodeficiency Gene:RAG2. Exons: NM_000536.3:2. Variants(4): c.115A>G, c.1352G>C, c.230C>A, c.686G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Raine Syndrome”][vc_column_text]Condition Gene/Varient
Raine Syndrome Gene:FAM20C. Exons: NM_020223.3:2-10. Variants(6): c.1351G>A, c.1163T>G, c.1093G>C, c.1645C>T, c.838G>A, c.773T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”RAPSN-Related Congenital Myasthenic Syndrome”][vc_column_text]Condition Gene/Varient
RAPSN-Related Congenital Myasthenic Syndrome Gene:RAPSN. Exons: NM_005055.4:1-8. Variants(5): c.264C>A, c.807C>A, c.490C>T, c.848T>C, c.484G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Refsum Disease”][vc_column_text]Condition Gene/Varient
Refsum Disease Gene:PHYH. Exons: NM_006214.3:2-9. Variants(13): c.497-2A>G, c.805A>C, c.678+5G>T, c.734G>A, c.135-2A>G, c.164delT, c.679-1G>T, c.823C>T, c.135-1G>C, c.824G>A, c.610G>A, c.530A>G, c.678+2T>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Renal-Hepatic-Pancreatic Dysplasia”][vc_column_text]Condition Gene/Varient
Refsum Disease Gene:NPHP3. Exons: NM_153240.4:1-27. Variants(3): c.3340C>T, c.1985+5G>A, c.1729C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”REN-Related Renal Tubular Dysgenesis”][vc_column_text]Condition Gene/Varient
REN-Related Renal Tubular Dysgenesis Gene:REN. Exons: NM_000537.3:1-10. Variants(4): c.689G>A, c.404C>A, c.127C>T, c.145C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Restrictive Dermopathy, Lethal”][vc_column_text]Condition Gene/Varient
Restrictive Dermopathy, Lethal Gene:ZMPSTE24. Exons: NM_005857.4:1-10. Variants(3): c.1085_1086insT, c.715G>T, c.54dupT
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinal cone dystrophy 3B”][vc_column_text]Condition Gene/Varient
Retinal cone dystrophy 3B Gene:KCNV2. Exons: NM_133497.3:1-2. Variants(10): c.1016_1024delACCTGGTGG, c.8_11delAACA, c.916G>T, c.357_358insC, c.491T>C, c.767C>G, c.226C>T, c.1376G>A, c.427G>T, c.325C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 12″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 12 Gene:CRB1. Exons: NM_201253.2:1-12. Variants(6): c.2290C>T, c.2983G>T, c.3299T>C, c.3541T>C, c.2401A>T, c.3122T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 14″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 14 Gene:TULP1. Exons: NM_003322.3:1-15. Variants(6): c.1259G>C, c.1471T>C, c.1511_1521delTGCAGTTCGGC, c.99+1G>A, c.1376T>A, c.1444C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 19″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 19 Gene:ABCA4. Exons: NM_000350.2:1-50. Variants(3): c.1938-1G>A, c.1848delA, c.4539+1G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 2″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 2 Gene:RP2. Exons: NM_006915.2:1-5. Variants(7): c.358C>T, c.453delC, c.353G>T, c.305_306insT, c.353G>A, c.76C>T, c.453C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 20″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 20 Gene:RPE65. Exons: NM_000329.2:1-14. Variants(7): c.1543C>T, c.1087C>A, c.1355T>G, c.271C>T, c.394G>A, c.1102T>C, c.1022T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 25″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 25 Gene:EYS. Exons: NM_001142800.1:4-43. Variants(3): c.5928-2A>G, c.6714delT, c.5857G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 26″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 26 Gene:CERKL. Exons: NM_201548.4:1-13. Variants(4): c.420delT, c.598A>T, c.769C>T, c.780delT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 3″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 3 Gene:RPGR. Exons: NM_001034853.1:2-15. Variants(11): c.674_675delCC, c.179G>T, c.654_655delGA, c.823G>A, c.296C>A, c.389T>G, c.517G>C, c.173_174insA, c.846_847delAA, c.1433_1436delTGAC, c.703C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 35″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 35 Gene:SEMA4A. Exons: NM_022367.3:2-15. Variants(2): c.1033G>C, c.1049T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 36″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 36 Gene:PRCD. Exons: NM_001077620.2:1-3. Variants(2): c.5G>A, c.64C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 37″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 37 Gene:NR2E3. Exons: NM_014249.2:1-8. Variants(1): c.1034_1038delTGCAG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 38″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 38 Gene:MERTK. Exons: NM_006343.2:1-19. Variants(6): c.2323C>T, c.61+1G>A, c.2070_2074delAGGAC, c.2189+1G>T, c.1951C>T, c.1605-2A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 4″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 4 Gene:RHO. Exons: NM_000539.3:1-5. Variants(2): c.448G>A, c.745G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 40″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 40 Gene:PDE6B. Exons: NM_000283.3:1-22. Variants(4): c.1669C>T, c.1580T>C, c.1591C>T, c.892C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 41″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 41 Gene:PROM1. Exons: NM_006017.2:1-26. Variants(2): c.1726C>T, c.1841delG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 43″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 43 Gene:PDE6A. Exons: NM_000440.2:1-22. Variants(4): c.1683G>A, c.2053G>A, c.304C>A, c.1749C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 44″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 44 Gene:RGR. Exons: NM_001012720.1:1-7. Variants(1): c.196A>C Retinitis[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pigmentosa 45″][vc_column_text]Condition Gene/Varient
Pigmentosa 45 Gene:CNGB1. Exons: NM_001297.4:2-33. Variants(2): c.2978G>T, c.3462+1G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 46″][vc_column_text]Condition Gene/Varient
Pigmentosa 45 Gene:IDH3B. Exons: NM_006899.3:1-12. Variants(2): c.589delA, c.395T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 49″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 49 Gene:CNGA1. Exons: NM_000087.3:4-11. Variants(3): c.427A>T, c.959C>T, c.1972delA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 50″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 50 Gene:BEST1. Exons: NM_004183.3:2-11. Variants(1): c.418C>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”G Retinitis Pigmentosa 56″][vc_column_text]Condition Gene/Varient
G Retinitis Pigmentosa 56 Gene:IMPG2. Exons: NM_016247.3:1-19. Variants(3): c.2716C>T, c.635C>G, c.2890C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 57″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 57 Gene:PDE6G. Exons: NM_002602.3:2-4. Variants(1): c.187+1G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”T Retinitis Pigmentosa 59″][vc_column_text]Condition Gene/Varient
T Retinitis Pigmentosa 59 Gene:DHDDS. Exons: NM_024887.3:2-9. Variants(1): c.124A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 61″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 61 Gene:CLRN1. Exons: NM_174878.2:1-3. Variants(2): c.92C>T, c.461T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 62″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 62 Gene:MAK. Exons: NM_001242957.1:2-15. Variants(4): c.497G>A, c.388A>C, c.718C>T, c.37G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Retinitis Pigmentosa 65″][vc_column_text]Condition Gene/Varient
Retinitis Pigmentosa 65 Gene:CDHR1. Exons: NM_033100.2:2-17. Variants(3): c.1463delG, c.338delG, c.524dupA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Rhizomelic Chondrodysplasia Punctata Type 1″][vc_column_text]Condition Gene/Varient
Rhizomelic Chondrodysplasia Punctata Type 1 Gene:PEX7. Exons: NM_000288.3:2-10. Variants(7): c.903+1G>C, c.649G>A, c.618G>A, c.875T>A, c.653C>T, c.854A>G, c.694C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Rhizomelic Chondrodysplasia Punctata Type 3″][vc_column_text]Condition Gene/Varient
Rhizomelic Chondrodysplasia Punctata Type 3 Gene:AGPS. Exons: NM_003659.3:1-20. Variants(2): c.1703C>T, c.926C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Roberts Syndrome”][vc_column_text]Condition Gene/Varient
Roberts Syndrome Gene:ESCO2. Exons: NM_001017420.2:2-11. Variants(10): c.876_879delCAGA, c.1597dupT, c.751dupG, c.1111_1112insG, c.308_309delAA, c.764_765delTT, c.745_746delGT, c.879_880delAG, c.1615T>G, c.505C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”RYR1 -Related Congenital Fiber-Type Disproportion”][vc_column_text]Condition Gene/Varient
RYR1 -Related Congenital Fiber-Type Disproportion Gene:ESCO2. Exons: NM_001017420.2:2-11. Variants(10): c.876_879delCAGA, c.1597dupT, c.751dupG, c.1111_1112insG, c.308_309delAA, c.764_765delTT, c.745_746delGT, c.879_880delAG, c.1615T>G, c.505C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Salla Disease”][vc_column_text]Condition Gene/Varient
Salla Disease Gene:SLC17A5. Exons: NM_012434.4:1-11. Variants(2): c.406A>G, c.115C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Sandhoff Disease”][vc_column_text]Condition Gene/Varient
Sandhoff Disease Gene:HEXB. Exons: NM_000521.3:1-14. Variants(4): c.1367A>C, c.1250C>T, c.965delT, c.850C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”SC Phocomelia Syndrome”][vc_column_text]Condition Gene/Varient
SC Phocomelia Syndrome Gene:ESCO2. Exons: NM_001017420.2:2-11. Variants(4): c.604C>T, c.760_761insA, c.760delA, c.1269G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Schindler Disease”][vc_column_text]Condition Gene/Varient
Schindler Disease Gene:NAGA. Exons: NM_000262.2:1-9. Variants(1): c.973G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Schinzel phocomelia syndrome”][vc_column_text]Condition Gene/Varient
Schinzel phocomelia syndrome Gene:WNT7A. Exons: NM_004625.3:1-4. Variants(2): c.610G>A, c.874C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Schneckenbecken Dysplasia”][vc_column_text]Condition Gene/Varient
Schneckenbecken Dysplasia Gene:SLC35D1. Exons: NM_015139.2:1-12. Variants(3): c.932G>A, c.193A>C, c.319C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Schwartz-Jampel Syndrome Type 1″][vc_column_text]Condition Gene/Varient
Schwartz-Jampel Syndrome Type 1 Gene:HSPG2. Exons: NM_005529.5:2-97. Variants(2): c.4595G>A, c.8464+4A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”SCNN1A-Related Autosomal Recessive Pseudohypoaldosteronism type 1″][vc_column_text]Condition Gene/Varient
SCNN1A-Related Autosomal Recessive Pseudohypoaldosteronism type 1 Gene:SCNN1A. Exons: NM_001038.5:2-13. Variants(1): c.1522C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”SCNN1B-Related Autosomal Recessive Pseudohypoaldosteronism type 1″][vc_column_text]Condition Gene/Varient
SCNN1B-Related Autosomal Recessive Pseudohypoaldosteronism type 1 Gene:SCNN1B. Exons: NM_000336.2:2-13. Variants(1): c.109G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”SCNN1G-Related Autosomal Recessive Pseudohypoaldosteronism type 1″][vc_column_text]Condition Gene/Varient
SCNN1G-Related Autosomal Recessive Pseudohypoaldosteronism type 1 Gene:SCNN1G. Exons: NM_001039.3:2-13. Variants(2): c.1627delG, c.1570-1G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Seckel Syndrome 1″][vc_column_text]Condition Gene/Varient
Seckel Syndrome 1 Gene:ATR. Exons: NM_001184.3:1-47. Variants(1): c.5635G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Seckel syndrome 5″][vc_column_text]Condition Gene/Varient
Seckel syndrome 5 Gene:CEP152. Exons: NM_014985.3:2-26. Variants(1): c.2034T>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Senior-Loken Syndrome 4″][vc_column_text]Condition Gene/Varient
Senior-Loken Syndrome 4 Gene:NPHP4. Exons: NM_015102.3:2-30. Variants(2): c.2335C>T, c.1972C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Senior-Loken Syndrome 5″][vc_column_text]Condition Gene/Varient
Senior-Loken Syndrome 5 Gene:IQCB1. Exons: NM_001023570.2:3-15. Variants(4): c.1465C>T, c.1069C>T, c.1036G>T, c.1381C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”SEPN1-related Congenital Muscular Dystrophy”][vc_column_text]Condition Gene/Varient
SEPN1-related Congenital Muscular Dystrophy Gene:SEPN1. Exons: NM_020451.2:2,4-13. Variants(6): c.1385G>A, c.1358G>C, c.1384T>G, c.943G>A, c.1397G>A, c.818G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Septo-Optic Dysplasia”][vc_column_text]Condition Gene/Varient
Septo-Optic Dysplasia Gene:HESX1. Exons: NM_003865.2:1-4. Variants(4): c.357+2T>C, c.478C>T, c.450_451delCA, c.77T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Severe combined immunodeficiency, Athabascan type”][vc_column_text]Condition Gene/Varient
Severe combined immunodeficiency, Athabascan type Gene:DCLRE1C. Exons: NM_001033855.1:1-7,9-14. Variants(5): c.362+1G>T, c.597C>A, c.972+1G>C, c.917+1G>A, c.780+1delG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Severe Combined Immunodeficiency,T-negative/B-positive type”][vc_column_text]Condition Gene/Varient
Severe Combined Immunodeficiency,T-negative/B-positive type Gene:JAK3. Exons: NM_000215.3:2-24. Variants(4): c.299A>G, c.1695C>A, c.1333C>T, c.1172_1173insG
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Short-Rib Thoracic Dysplasia 2″][vc_column_text]Condition Gene/Varient
Short-Rib Thoracic Dysplasia 2 Gene:IFT80. Exons: NM_020800.2:2-20. Variants(3): c.2101G>C, c.1646_1648delTAT, c.315C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Short-Rib Thoracic Dysplasia 3″][vc_column_text]Condition Gene/Varient
Short-Rib Thoracic Dysplasia 3 Gene:DYNC2H1. Exons: NM_001080463.1:1-90. Variants(10): c.5959A>G, c.10063G>T, c.5971A>T, c.8512C>T, c.9044A>G, c.4610A>G, c.3719T>C, c.6614G>A, c.1759C>T, c.7382G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Shwachman-Diamond Syndrome”][vc_column_text]Condition Gene/Varient
Shwachman-Diamond Syndrome Gene:SBDS. Exons: NM_016038.2:1,3,5. Variants(7): c.377G>C, c.652C>T, c.258+2T>C, c.258+1G>C, c.183_184delTAinsCT, c.120delG, c.505C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Sickle Cell Anemia”][vc_column_text]Condition Gene/Varient
Sickle Cell Anemia Gene:HBB. Exons: NM_000518.4:1-3. Variants(5): c.19G>A, c.20A>T, c.79G>A, c.364G>A, c.364G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Simpson-Golabi-Behmel Syndrome Type 2″][vc_column_text]Condition Gene/Varient
Simpson-Golabi-Behmel Syndrome Type 2 Gene:OFD1. Exons: NM_003611.2:1-23. Variants(1): c.2126_2129dupAAAG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Sjogren-Larsson syndrome”][vc_column_text]Condition Gene/Varient
Sjogren-Larsson syndrome Gene:ALDH3A2. Exons: NM_000382.2:1-10. Variants(7): c.1157A>G, c.641G>A, c.521delT, c.809delG, c.943C>T, c.1297_1298delGA, c.1307_1311dupACAAA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”SLC6A8-Related Creatine Transporter Deficiency”][vc_column_text]Condition Gene/Varient
SLC6A8-Related Creatine Transporter Deficiency Gene:SLC6A8. Exons: NM_005629.3:2,5-13. Variants(9): c.1631C>T, c.1011C>G, c.1540C>T, c.395G>T, c.1473C>G, c.1222_1224delTTC, c.1141G>C, c.321_323delCTT, c.1661C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Smith-Lemli-Opitz syndrome”][vc_column_text]Condition Gene/Varient
Smith-Lemli-Opitz syndrome Gene:DHCR7. Exons: NM_001360.2:3-9. Variants(19): c.356A>T, c.724C>T, c.976G>T, c.907G>A, c.1210C>T, c.278C>T, c.744G>T, c.964-1G>C, c.1054C>T, c.453G>A, c.1337G>A, c.1055G>A, c.904T>C, c.725G>A, c.506C>T, c.730G>A, c.832-1G>C, c.1228G>A, c.1342G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Spastic paraplegia 5A, autosomal recessive”][vc_column_text]Condition Gene/Varient
Spastic paraplegia 5A, autosomal recessive Gene:CYP7B1. Exons: NM_004820.3:2-6. Variants(2): c.825T>A, c.187C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Spinal Muscular Atrophy”][vc_column_text]Condition Gene/Varient
Spinal Muscular Atrophy Gene:SMN1. variants(1): EX7 del[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Spondylocostal dysostosis 1″][vc_column_text]Condition Gene/Varient
Spondylocostal dysostosis 1 Gene:DLL3. Exons: NM_016941.3:1-3,5-6,8. Variants(2): c.1511G>A, c.712C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Spondyloepimetaphyseal Dysplasia”][vc_column_text]Condition Gene/Varient
Spondyloepimetaphyseal Dysplasia Gene:MATN3. Exons: NM_002381.4:2-8. Variants(1): c.910T>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Stickler Syndrome Type IV”][vc_column_text]Condition Gene/Varient
Stickler Syndrome Type IV Gene:COL9A1. Exons: NM_001851.4:1-38. Variants(1): c.883C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Stuve-Wiedemann Syndrome”][vc_column_text]Condition Gene/Varient
Stuve-Wiedemann Syndrome Gene:LIFR. Exons: NM_002310.5:2-20. Variants(4): c.2013_2014insT, c.653dupT, c.1789C>T, c.171174delTAAC
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Succinic Semialdehyde Dehydrogenase Deficiency”][vc_column_text]Condition Gene/Varient
Succinic Semialdehyde Dehydrogenase Deficiency Gene:ALDH5A1. Exons: NM_001080.3:2-10. Variants(3): c.1234C>T, c.612G>A, c.1226G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Sulfite Oxidase Deficiency”][vc_column_text]Condition Gene/Varient
Sulfite Oxidase Deficiency Gene:SUOX. Exons: NM_000456.2:4-6. Variants(2): c.794C>A, c.650G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Tay-Sachs Disease”][vc_column_text]Condition Gene/Varient
Tay-Sachs Disease Gene:HEXA. Exons: NM_000520.4:1-14. Variants(30): c.409C>T, c.1073+1G>A, c.1260G>C, c.1453T>C, c.116T>G, c.672+1G>A, c.1444G>A, c.1511G>A, c.915_917delCTT, c.1510delC, c.509G>A, c.540C>G, c.1177C>T, c.508C>T, c.1274_1277dupTATC, c.772G>C, c.78G>A, c.1510C>T, c.987G>A, c.805+1G>A, c.532C>T, c.1495C>T, c.1421+1G>C, c.1496G>A, c.533G>T, c.749G>A, c.1176G>A, c.533G>A, c.805G>A, c.1A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”T-cell immunodeficiency, Congenital alopecia, and Nail dystrophy”][vc_column_text]Condition Gene/Varient
T-cell immunodeficiency, Congenital alopecia, and Nail dystrophy Gene:FOXN1. Exons: NM_003593.2:1-8. Variants(1): c.763C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA)”][vc_column_text]Condition Gene/Varient
Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) Gene:PTS. Exons: NM_000317.2:1-6. Variants(1): c.286G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”TMEM67-Related COACH Syndrome”][vc_column_text]Condition Gene/Varient
TMEM67-Related COACH Syndrome Gene:TMEM67. Exons: NM_153704.5:1-28. Variants(2): c.2498T>C, c.1769T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Tyrosinemia Type I”][vc_column_text]Condition Gene/Varient
Tyrosinemia Type I Gene:FAH. Exons: NM_000137.2:1-14. Variants(13): c.1090G>T, c.47A>T, c.554-1G>T, c.1069G>T, c.786G>A, c.836A>G, c.1141A>G, c.782C>T, c.103G>A, c.1062+5G>A, c.1027G>T, c.698A>T, c.1009G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Tyrosinemia Type II”][vc_column_text]Condition Gene/Varient
Tyrosinemia Type II Gene:TAT. Exons: NM_000353.2:2-12. Variants(5): c.169C>T, c.1085G>T, c.668C>G, c.236-5A>G, c.1249C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Tyrosinemia Type III”][vc_column_text]Condition Gene/Varient
Tyrosinemia Type III Gene:HPD. Exons: NM_002150.2:1-14. Variants(3): c.1005C>G, c.774T>G, c.600C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 1B”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 1B Gene:MYO7A. Exons: NM_000260.3:2-49. Variants(8): c.635G>A, c.448C>T, c.1884C>A, c.5227C>T, c.6025delG, c.634C>T, c.1996C>T, c.3504-1G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 1C”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 1C Gene:USH1C. Exons: NM_153676.3:1-27. Variants(1): c.238_239insC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 1D”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 1D Gene:CDH23. Exons: NM_022124.5:2-70. Variants(8): c.7823G>A, c.193delC, c.6050-9G>A, c.4504C>T, c.288+1G>A, c.9565C>T, c.4488G>C, c.7224+5G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 1F”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 1F Gene:PCDH15. Exons: NM_033056.3:2-33. Variants(5): c.3718-2A>G, c.733C>T, c.7C>T, c.1940C>G, c.1088delT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 1G”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 1G Gene:USH1G. Exons: NM_173477.2:1-3. Variants(5): c.113G>A, c.143T>C, c.394_395insG, c.832_851delTCGGACGAGGACAGCGTCTC, c.186_187delCA[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 2A”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 2A Gene:USH2A. Exons: NM_206933.2:2-72. Variants(15): c.14803C>T, c.5975A>G, c.9799T>C, c.2209C>T, c.779T>G, c.2898delG, c.4338_4339delCT, c.12574C>T, c.9424G>T, c.2299delG, c.2276G>T, c.920_923dupGCCA, c.11864G>A, c.8981G>A, c.956G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 2C”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 2C Gene:GPR98. Exons: NM_032119.3:1-90. Variants(8): c.17668_17669delAT, c.18131A>G, c.8790delC, c.8713_8716dupAACA, c.2258_2270delAAGTGCTGAAATC, c.5357_5358delAA, c.17137delG, c.6901C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 3A”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 3A Gene:CLRN1. Exons: NM_174878.2:1-3. Variants(7): c.449T>C, c.118T>G, c.144T>G, c.528T>G, c.459_461delATT, c.189C>A, c.359T>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Vitamin D-resistant Rickets Type IIA”][vc_column_text]Condition Gene/Varient
Vitamin D-resistant Rickets Type IIA Gene:VDR. Exons: NM_001017535.1:4-11. Variants(7): c.915C>G, c.137G>A, c.1036G>A, c.88C>T, c.454C>T, c.239G>A, c.885C>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”VLDLR-Associated Cerebellar Hypoplasia”][vc_column_text]Condition Gene/Varient
VLDLR-Associated Cerebellar Hypoplasia Gene:VLDLR. Exons: NM_003383.3:2-19. Variants(3): c.1342C>T, c.2339delT, c.769C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Waardenburg Syndrome Type 3″][vc_column_text]Condition Gene/Varient
Waardenburg Syndrome Type 3 Gene:PAX3. Exons: NM_181457.3:1-8. Variants(2): c.251C>T, c.268T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Waardenburg Syndrome Type 4A”][vc_column_text]Condition Gene/Varient
Waardenburg Syndrome Type 4A Gene:EDNRB. Exons: NM_000115.3:2-8. Variants(2): c.548C>G, c.828G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Waardenburg Syndrome Type 4B”][vc_column_text]Condition Gene/Varient
Waardenburg Syndrome Type 4B Gene:EDN3. Exons: NM_207034.1:2-5. Variants(1): c.262_263delGCinsT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Warburg Micro Syndrome 1″][vc_column_text]Condition Gene/Varient
Warburg Micro Syndrome 1 Gene:RAB3GAP1. Exons: NM_012233.2:1-24. Variants(5): c.1410C>A, c.2011C>T, c.1734G>A, c.748+1G>A, c.899+1G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Wilson Disease”][vc_column_text]Condition Gene/Varient
Wilson Disease Gene:ATP7B. Exons: NM_000053.3:1-21. Variants(174): c.1772G>A, c.2131G>A, c.1369C>T, c.3646G>A, c.3359T>A, c.3903+1delG, c.2304_2305insG, c.3665A>T, c.2887C>T, c.1847G>A, c.3451C>T, c.1646T>C, c.2230T>C, c.2279C>T, c.3877G>A, c.2930C>T, c.2865+1G>A, c.3140delA, c.2828G>A, c.3818C>A, c.3505A>G, c.2827G>A, c.2009_2015delATATGCT, c.3713_3714delAA, c.314C>A, c.3436G>A, c.2662A>C, c.2293G>A, c.1639delC, c.3506T>C, c.1947-2A>G, c.3955C>T, c.397delT, c.2810delT, c.3402delC, c.4022-2A>G, c.1745_1746delTA, c.2122-8T>G, c.3412+1G>A, c.3091A>G, c.3244G>T, c.2463delC, c.2731-2A>G, c.3556G>A, c.3207C>A, c.2605G>A, c.2604delC, c.3659C>T, c.1924G>C, c.3182G>A, c.3699+1G>C, c.2519C>T, c.2335T>G, c.2297C>G, c.1708- 5T>G, c.122A>G, c.2975C>A, c.2513delA, c.1958C>A, c.3517G>A, c.3895C>T, c.3061-12T>A, c.3147delC, c.2332C>G, c.2305A>G, c.2575+2T>C, c.2924C>A, c.3449delA, c.2132G>A, c.3840_3841insTAG, c.865C>T, c.4114C>T, c.813C>A, c.2862_2865delTCCT, c.1846C>T, c.3053C>T, c.3097A>G, c.3731delT, c.1475T>C, c.2356-2A>G, c.3104G>T, c.2071G>A, c.2899A>T, c.3191A>C, c.1340_1343delAAAC, c.3084_3085delGA, c.2755C>G, c.3317T>A, c.654_655delCC, c.3694A>C, c.3829C>T, c.448_452delGAGGG, c.1531C>T, c.343C>T, c.1470C>A, c.2447+2T>A, c.3800A>C, c.1436delC, c.3784G>T, c.3305T>C, c.1968C>A, c.4195delC, c.2804C>T, c.2223T>A, c.2659delG, c.2407G>A, c.2337G>A, c.2304delC, c.1934T>G, c.2695A>T, c.4021G>A, c.2866-6T>G, c.3904-2A>G, c.802_808delTGTAAGT, c.3008C>T, c.3128T>C, c.2333G>A, c.2108G>A, c.4088C>T, c.4112T>C, c.892delC, c.2871delC, c.3796G>A, c.213_214delAT, c.2294A>G, c.2333G>T, c.3263T>A, c.1568T>A, c.3700-2A>T, c.3060+5G>T, c.3190G>A, c.2129G>C, c.3086C>T, c.3532A>G, c.254G>T, c.2623G>A, c.3643G>T, c.3886G>A, c.1186G>T, c.1782delT, c.2762G>A, c.2998G>A, c.2807T>A, c.2532delA, c.2795C>A, c.2121+3A>G, c.2128G>A, c.2438_2440delTAAinsAT, c.2975C>T, c.2572A>G, c.3301G>A, c.3809A>G, c.2621C>T, c.328C>T, c.3443T>C, c.3122G>C, c.561T>A, c.3598C>T, c.2336G>A, c.453delC, c.3111delC, c.3548C>G, c.3007G>A, c.1995G>A, c.1630C>T, c.2123T>C, c.3295G>A, c.845delT, c.2906G>A, c.331C>T, c.2383C>T, c.3722C>T, c.2570T>C, c.3029A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Wiskott-Aldrich Syndrome”][vc_column_text]Condition Gene/Varient
Wiskott-Aldrich Syndrome Gene:WAS. Exons: NM_000377.2:1-12. Variants(4): c.257G>T, c.257G>A, c.244T>C, c.100C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Wolcott-Rallison Syndrome”][vc_column_text]Condition Gene/Varient
Wolcott-Rallison Syndrome Gene:EIF2AK3. Exons: NM_004836.5:2-17. Variants(2): c.1763G>A, c.994G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Wolfram Syndrome”][vc_column_text]Condition Gene/Varient
Wolfram Syndrome Gene:WFS1. Exons: NM_006005.3:2-8. Variants(6): c.676C>T, c.1511C>T, c.1944G>A, c.2084G>T, c.2171C>T, c.2455C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Xeroderma Pigmentosum Group A”][vc_column_text]Condition Gene/Varient
Xeroderma Pigmentosum Group A Gene:XPA. Exons: NM_000380.3:2-6. Variants(4): c.348T>A, c.323G>T, c.619C>T, c.682C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Xeroderma Pigmentosum Group B”][vc_column_text]Condition Gene/Varient
Xeroderma Pigmentosum Group B Gene:ERCC3. Exons: NM_000122.1:2-15. Variants(3): c.1273C>T, c.296T>C, c.1633C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Xeroderma Pigmentosum Group D”][vc_column_text]Condition Gene/Varient
Xeroderma Pigmentosum Group D Gene:ERCC2. Exons: NM_000400.3:2-23. Variants(4): c.1621A>C, c.2047C>T, c.1454T>C, c.2176C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Xeroderma Pigmentosum Group E”][vc_column_text]Condition Gene/Varient
Xeroderma Pigmentosum Group E Gene:DDB2. Exons: NM_000107.2:1-10. Variants(4): c.919G>T, c.937C>T, c.730A>G, c.818G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Xeroderma Pigmentosum Group F”][vc_column_text]Condition Gene/Varient
Xeroderma Pigmentosum Group F Gene:ERCC4. Exons: NM_005236.2:1-11. Variants(4): c.1730dupA, c.2281_2284delTTTG, c.706T>C, c.1765C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Xeroderma Pigmentosum Group G”][vc_column_text]Condition Gene/Varient
Xeroderma Pigmentosum Group G Gene:ERCC5. Exons: NM_000123.3:1-15. Variants(12): c.2620G>A, c.526C>T, c.2170delT, c.215C>A, c.2878G>T, c.2573T>C, c.2972delT, c.1494delA, c.2751delA, c.406C>T, c.787C>T, c.1115_1118delGGAA
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Adrenal Hypoplasia Congenita”][vc_column_text]Condition Gene/Varient
X-Linked Adrenal Hypoplasia Congenita Gene:NR0B1. Exons: NM_000475.4:1-2. Variants(22): c.813C>G, c.591C>A, c.788T>A, c.704G>A, c.1319A>T, c.315G>C, c.273C>A, c.513G>A, c.1107G>A, c.1169delA, c.847C>T, c.1316T>G, c.1138T>G, c.388_389delTA, c.873G>C, c.1183C>T, c.800G>C, c.1142T>A, c.109C>T, c.890T>C, c.1146G>T, c.1197C>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Adrenoleukodystrophy”][vc_column_text]Condition Gene/Varient
X-Linked Adrenoleukodystrophy Gene:ABCD1. Exons: NM_000033.3:1-7,10. Variants(12): c.443A>G, c.1390C>T, c.1451C>G, c.1202G>A, c.1552delC, c.1415_1416delAG, c.1165C>G, c.1252C>T, c.871G>A, c.1552C>T, c.1429G>T, c.796G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Agammaglobulinemia”][vc_column_text]Condition Gene/Varient
X-Linked Agammaglobulinemia Gene:BTK. Exons: NM_000061.2:2-19. Variants(28): c.1559G>A, c.1838G>A, c.1082A>G, c.1820C>A, c.1275C>A, c.1685G>C, c.83G>A, c.1223T>C, c.1684C>T, c.43C>T, c.1906G>T, c.1766A>G, c.862C>T, c.763C>T, c.1741T>C, c.1506C>A, c.37C>T, c.1773C>A, c.718G>T, c.755G>A, c.1574G>A, c.1558C>T, c.1288A>G, c.1001A>C, c.338T>A, c.97A>C, c.919A>G, c.2T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Centronuclear Myopathy”][vc_column_text]Condition Gene/Varient
X-Linked Centronuclear Myopathy Gene:MTM1. Exons: NM_000252.2:2-15. Variants(4): c.205C>T, c.141_144delAGAA, c.721C>T, c.670C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Charcot-Marie-Tooth disease 5″][vc_column_text]Condition Gene/Varient
X-linked Charcot-Marie-Tooth disease 5 Gene:PRPS1. Exons: NM_002764.3:1-7. Variants(2): c.344T>C, c.129A>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked chondrodysplasia punctata 1″][vc_column_text]Condition Gene/Varient
X-linked chondrodysplasia punctata 1 Gene:ARSE. Exons: NM_000047.2:2-11. Variants(6): c.1743G>A, c.1442C>T, c.1732C>T, c.410G>T, c.119T>G, c.410G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Deafness 1″][vc_column_text]Condition Gene/Varient
X-linked Deafness 1 Gene:PRPS1. Exons: NM_002764.3:1-7. Variants(4): c.259G>A, c.869T>C, c.916G>A, c.193G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Deafness 2″][vc_column_text]Condition Gene/Varient
X-linked Deafness 2 Gene:POU3F4. Exons: NM_000307.3:1. Variants(7): c.967C>G, c.990A>T, c.1000A>G, c.499C>T, c.935C>T, c.604A>T, c.950T>G
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Emery-Dreifuss Muscular Dystrophy 1″][vc_column_text]Condition Gene/Varient
X-linked Emery-Dreifuss Muscular Dystrophy 1 Gene:EMD. Exons: NM_000117.2:1-6. Variants(2): c.631_635delCGTGC, c.547C>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Emery-Dreifuss Muscular Dystrophy 6″][vc_column_text]Condition Gene/Varient
X-linked Emery-Dreifuss Muscular Dystrophy 6 Gene:FHL1. Exons: NM_001449.4:3-7. Variants(4): c.310T>C, c.689-479G>A, c.672C>G, c.625T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Hyper IgM Syndrome”][vc_column_text]Condition Gene/Varient
X-Linked Hyper IgM Syndrome Gene:CD40LG. Exons: NM_000074.2:1-5. Variants(9): c.761C>T, c.680G>T, c.107T>G, c.418T>G, c.464T>C, c.632C>A, c.368C>A, c.419G>A, c.703G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Hypohidrotic Ectodermal Dysplasia”][vc_column_text]Condition Gene/Varient
X-Linked Hypohidrotic Ectodermal Dysplasia Gene:EDA. Exons: NM_001399.4:1-2,4-8. Variants(9): c.466C>T, c.206G>T, c.826C>T, c.183C>G, c.467G>A, c.463C>T, c.1045G>A, c.725delG, c.573_574insT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Infantile Spasm Syndrome 1″][vc_column_text]Condition Gene/Varient
X-linked Infantile Spasm Syndrome 1 Gene:ARX. Exons: NM_139058.2:1,3,5. Variants(2): c.1058C>T, c.81C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Infantile Spinal Muscular Atrophy”][vc_column_text]Condition Gene/Varient
X-Linked Infantile Spinal Muscular Atrophy Gene:UBA1. Exons: NM_003334.3:2-26. Variants(3): c.1617G>T, c.1639A>G, c.1731C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Juvenile Retinoschisis”][vc_column_text]Condition Gene/Varient
X-Linked Juvenile Retinoschisis Gene:RS1. Exons: NM_000330.3:1-6. Variants(3): c.221G>T, c.214G>C, c.325G>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Leigh Syndrome”][vc_column_text]Condition Gene/Varient
X-Linked Leigh Syndrome Gene:PDHA1. Exons: NM_000284.3:2-11. Variants(2): c.773A>C, c.787C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Lymphoproliferative syndrome 1″][vc_column_text]Condition Gene/Varient
X-Linked Lymphoproliferative syndrome 1 Gene:SH2D1A. Exons: NM_002351.4:1-4. Variants(8): c.95G>C, c.302C>T, c.385T>A, c.172C>T, c.203C>T, c.163C>T, c.164G>T, c.3G>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Ocular Albinism”][vc_column_text]Condition Gene/Varient
X-Linked Ocular Albinism Gene:GPR143. Exons: NM_000273.2:2-9. Variants(6): c.397T>A, c.695C>A, c.397T>C, c.455G>A, c.992_993insCG, c.816_829delGCAAACAGATATCA
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Severe Combined Immunodeficiency”][vc_column_text]Condition Gene/Varient
X-Linked Severe Combined Immunodeficiency Gene:IL2RG. Exons: NM_000206.2:1-8. Variants(10): c.458T>A, c.452T>C, c.923C>A, c.454+1G>A, c.343T>C, c.854G>A, c.865C>T, c.186T>A, c.664C>T, c.355A>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Severe Congenital Neutropenia”][vc_column_text]Condition Gene/Varient
X-Linked Severe Congenital Neutropenia Gene:WAS. Exons: NM_000377.2:1-12. Variants(3): c.809T>C, c.814T>C, c.881T>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Sideroblastic Anemia and Ataxia”][vc_column_text]Condition Gene/Varient
X-linked Sideroblastic Anemia and Ataxia Gene:ABCB7. Exons: NM_004299.3:1-16. Variants(3): c.1203T>G, c.1234G>C, c.1300G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Sideroblastic Anemia”][vc_column_text]Condition Gene/Varient
X-linked Sideroblastic Anemia Gene:ALAS2. Exons: NM_000032.4:2-11. Variants(4): c.1354C>T, c.569A>T, c.1427T>A, c.1163C>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-Linked Spastic Paraplegia 2″][vc_column_text]Condition Gene/Varient
X-Linked Spastic Paraplegia 2 Gene:PLP1. Exons: NM_000533.3:1-7. Variants(1): c.409C> T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”X-linked Thrombocytopenia”][vc_column_text]Condition Gene/Varient
X-linked Thrombocytopenia Gene:WAS. Exons: NM_000377.2:1-12. Variants(4): c.1442T>A, c.173C>G, c.167C>T, c.134C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”2 Variants of g roup B Acyl-CoA Dehydrogenase Deficiency,Short-Chain”][vc_column_text]Condition Gene/Varient
2 Variants of g roup B Acyl-CoA Dehydrogenase Deficiency,Short-Chain Gene:ACADS. Exons: NM_000017.2:2-10. Variants(1): c.319C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Yunis-Varon syndrome”][vc_column_text]Condition Gene/Varient
Yunis-Varon syndrome Gene:FIG4. Exons: NM_014845.5:1-23. Variants(3): c.1260_1261delGT, c.311G>A, c.831_838delTAAATTTG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Alpha1-Antitrypsin Deficiency”][vc_column_text]Condition Gene/Varient
Alpha1-Antitrypsin Deficiency Gene:SERPINA1. Exons: NM_000295.4:2-5. Variants(9): c.839A>T, c.347T>A, c.272G>A, c.230C>T, c.194T>C, c.863A>T, c.1096G>A, c.187C>T, c.415G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Ataxia With Vitamin E Deficiency”][vc_column_text]Condition Gene/Varient
Ataxia With Vitamin E Deficiency Gene:TTPA. Exons: NM_000370.3:2-5. Variants(1): c.575G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Deafness 1A”][vc_column_text]Condition Gene/Varient
Autosomal Recessive Deafness 1A Gene:GJB2. Exons: NM_004004.5:2. Variants(4): c.520T>C, c.535G>C, c.551G>A, c.101T>C
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Autosomal Recessive Polycystic Kidney Disease”][vc_column_text]Condition Gene/Varient
Autosomal Recessive Polycystic Kidney Disease Gene:PKHD1. Exons: NM_138694.3:2-67. Variants(3): c.10926G>A, c.5125C>T, c.8581A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Beta-thalassemia”][vc_column_text]Condition Gene/Varient
Beta-thalassemia Gene:HBB. Exons: NM_000518.4:1-3. Variants(17):c.-50-u101C>T, c.-50-u88C>T, c.102_104delGGT, c.182T>A, c.295G>A, c.315+4_315+5delAG, c.315delG, c.316-125A>G, c.316-238C>T, c.316-8T>G, c.344T>C, c.364G>T, c.378_379insCCA, c.382C>T, c.383A>C, c.86T>G, c.92_94dupGGC[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Canavan Disease”][vc_column_text]Condition Gene/Varient
Beta-thalassemia Gene:ASPA. Exons: NM_000049.2:1-6. Variants(2): c.212G>A, c.863A>G Choroideremia. Gene:CHM. Exons: NM_000390.2:1-15. Variants(2): c.1609+1_1609+2insT, c.1609+2_1609+3insT[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Duchenne Muscular Dystrophy”][vc_column_text]Condition Gene/Varient
Duchenne Muscular Dystrophy Gene:DMD. Exons: NM_004006.2:1-79. Variants(1): c.1934A>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”G Factor V Leiden thrombophilia”][vc_column_text]Condition Gene/Varient
G Factor V Leiden thrombophilia Gene:F5. Exons: NM_000130.4:1-25. Variants(1): c.1601G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Factor XI Deficiency”][vc_column_text]Condition Gene/Varient
Factor XI Deficiency Gene:F11. Exons: NM_000128.3:2-15. Variants(6): c.166T>C, c.809A>T, c.901T>C, c.438C>A, c.1716+1G>A, c.403G>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Familial Mediterranean Fever”][vc_column_text]Condition Gene/Varient
Familial Mediterranean Fever Gene:MEFV. Exons: NM_000243.2:1-10. Variants(1): c.2084A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”GLDC-Related Glycine Encephalopathy”][vc_column_text]Condition Gene/Varient
GLDC-Related Glycine Encephalopathy Gene:GLDC. Exons: NM_000170.2:2-25. Variants(1): c.2405C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type II”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type II Gene:GAA. Exons: NM_000152.3:2-20. Variants(1): c.-32-13T>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Glycogen Storage Disease Type V”][vc_column_text]Condition Gene/Varient
Glycogen Storage Disease Type V Gene:PYGM. Exons: NM_005609.2:1-20. Variants(13): c.613G>A, c.2128_2130delTTC, c.1628A>C, c.1621G>T, c.2392T>C, c.1827G>A, c.1094C>T, c.1963G>A, c.255C>A, c.1722T>G, c.148C>T, c.1726C>T, c.1A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hemophilia A”][vc_column_text]Condition Gene/Varient
Hemophilia A Gene:F8. Exons: NM_000132.3:1-26. Variants(80): c.1660A>G, c.5944T>A, c.6658_6660delGCC, c.6301C>G, c.2059C>T, c.289G>C, c.6658G>C, c.1748A>G, c.5302C>T, c.2225A>G, c.6104T>C, c.2138A>T, c.5422C>T, c.5123G>A, c.5918A>T, c.6533G>A, c.6955C>T, c.1649G>A, c.6790A>G, c.1910A>G, c.979C>G, c.5218A>G, c.6278A>G, c.6113A>G, c.842C>A, c.908C>A, c.5305G>C, c.6021G>A, c.6067G>A, c.5938C>G, c.6532C>T, c.1018G>A, c.1688C>G, c.6920A>C, c.5329C>T, c.1589A>G, c.655G>A, c.6685C>T, c.1679G>C, c.896A>T, c.1992G>C, c.6622C>G, c.1733T>C, c.1280A>T, c.2043G>A, c.6371A>G, c.5093T>C, c.1700T>C, c.5303G>A, c.5305G>A, c.6575G>T, c.669A>T, c.2215G>A, c.1094A>G, c.871G>A, c.5180A>T, c.1736A>C, c.6214C>T, c.5900G>A, c.1930T>G, c.6089G>A, c.1730C>T, c.5954G>A, c.396A>C, c.5558C>T, c.1834C>T, c.2128G>T, c.6956C>T, c.446C>G, c.338A>G, c.1372C>T, c.1309C>T, c.361G>A, c.6932C>A, c.5143C>G, c.6119G>A, c.1648C>T, c.5096A>T, c.5501A>G, c.6787_6788insTTG[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Hemophilia B”][vc_column_text]Condition Gene/Varient
Hemophilia B Gene:F9. Exons: NM_000133.3:1-8. Variants(14): c.391+7A>G, c.1159A>G, c.271T>A, c.1291T>A, c.19A>T, c.793G>A, c.1061G>A, c.1001T>C, c.1298A>C, c.797C>T, c.1265C>A, c.1345C>T, c.1015A>G, c.1009G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”HFE-Related Hereditary Hemochromatosis”][vc_column_text]Condition Gene/Varient
HFE-Related Hereditary Hemochromatosis Gene:HFE. Exons: NM_000410.3:1-6. Variants(3): c.845G>A, c.187C>G, c.848A>C[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency”][vc_column_text]Condition Gene/Varient
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Gene:CBS. Exons: NM_000071.2:3-17. Variants(1): c.1105C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Macular degeneration, juvenile”][vc_column_text][vc_column_text]Condition Gene/Varient
Macular degeneration, juvenile Gene:CNGB3. Exons: NM_019098.4:1-18. Variants(2): c.1208G>A, c.1148delC
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”MTHFR deficiency”][vc_column_text]Condition Gene/Varient
MTHFR deficiency Gene:MTHFR. Exons: NM_005957.4:2-12. Variants(1): c.665C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Nephropathic Cystinosis”][vc_column_text]Condition Gene/Varient
Nephropathic Cystinosis Gene:CTNS. Exons: NM_004937.2:3-12. Variants(1): c.124G>A
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Oculocutaneous Albinism Type 2″][vc_column_text]Condition Gene/Varient
Oculocutaneous Albinism Type 2 Gene:OCA2. Exons: NM_000275.2:2-24. Variants(1): c.1441G> A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Odontoonychodermal Dysplasia”][vc_column_text]Condition Gene/Varient
Odontoonychodermal Dysplasia Gene:WNT10A. Exons: NM_025216.2:1-3. Variants(1): c.682T>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Phenylketonuria”][vc_column_text]Condition Gene/Varient
Phenylketonuria Gene:PAH. Exons: NM_000277.1:1-13. Variants(24): c.799C>G, c.1256A>G, c.965C>G, c.1241A>G, c.175G>T, c.205C>T, c.307G>A, c.428A>G, c.839A>C, c.365C>A, c.1194A>C, c.1162G>A, c.1117G>A, c.877T>A, c.155T>C, c.512G>C, c.937G>A, c.434A>T, c.1223G>A, c.1139C>T, c.386A>G, c.281T>G, c.1208C>T, c.158G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Protein C deficiency”][vc_column_text]Condition Gene/Varient
Protein C deficiency Gene:PROC. Exons: NM_000312.3:2-9. Variants(6): c.629C>T, c.1335C>G, c.866C>T, c.1000G>A, c.793C>T, c.902C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Protein S deficiency”][vc_column_text]Condition Gene/Varient
Protein S deficiency Gene:PROS1. Exons: NM_000313.3:1-5,8-10,12,14. Variants(2): c.701A>G, c.835C>T
[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Pseudocholinesterase deficiency”][vc_column_text]Condition Gene/Varient
Pseudocholinesterase deficiency Gene:BCHE. Exons: NM_000055.2:2-4. Variants(1): c.293A>G[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Smith-Lemli-Opitz syndrome”][vc_column_text]Condition Gene/Varient
Smith-Lemli-Opitz syndrome Gene:DHCR7. Exons: NM_001360.2:3-9. Variants(1): c.1A>[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”G Stargardt Disease 1″][vc_column_text]Condition Gene/Varient
G Stargardt Disease 1 Gene:ABCA4. Exons: NM_000350.2:1-50. Variants(27): c.5693G>A, c.5912T>G, c.6320G>A, c.3113C>T, c.6088C>T, c.3322C>T, c.1018T>G, c.1225delA, c.5882G>A, c.5338C>G, c.5908C>T, c.6079C>T, c.2588G>C, c.634C>T, c.3210_3211dupGT, c.5819T>C, c.52C>T, c.3083C>T, c.3106G>A, c.4139C>T, c.1715G>A, c.3364G>A, c.571-2A>G, c.2565G>A, c.3386G>T, c.6148G>C, c.2791G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Tay-Sachs pseudodeficiency Disease”][vc_column_text]Condition Gene/Varient
Tay-Sachs pseudodeficiency Disease Gene:HEXA. Exons: NM_000520.4:1-14. Variants(2): c.745C>T, c.739C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”TFR2-Related Hereditary Hemochromatosis”][vc_column_text]Condition Gene/Varient
TFR2-Related Hereditary Hemochromatosis Gene:TFR2. Exons: NM_003227.3:1-18. Variants(14): c.1330G>A, c.750C>G, c.949C>T, c.1469T>G, c.1665delC, c.1861_1872delGCCGTGGCCCAG, c.1186C>T, c.2137-1G>A, c.88_89insC, c.515T>A, c.2069A>C, c.1235_1237delACA, c.2374G>A, c.313C>T[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Usher Syndrome Type 1D”][vc_column_text]Condition Gene/Varient
Usher Syndrome Type 1D Gene:CDH23. Exons: NM_022124.5:2-70. Variants(1): c.5237G>A[/vc_column_text][/vc_accordion_tab][vc_accordion_tab title=”Venous Thromboembolism”][vc_column_text]Condition Gene/Varient
Venous Thromboembolism Gene:F2. Exons: NM_000506.3:1-14. Variants(1): c.*97G>A Xeroderma Pigmentosum Group G. Gene:ERCC5. Exons: NM_000123.3:1-15. Variants(1): c.2375C>T[/vc_column_text][/vc_accordion_tab][/vc_accordion][/vc_column][/vc_row]