* The variants and the related phenotypic associations have been retrieved from the Catalogue for Transmission Genetics in Arabs (CTGA). Centre for Arab Genomic Studies, Dubai, UAE. [cited June-2021]. Available from: http://www.cags.org.ae/.
| Gene name CTGA database variant id |
Potentially linked disease* |
| BFSP2 NM_003571.3 c.598_599dup |
Cataract 12, Multiple Types |
| BRAF NM_004333.6 c.1914T>G |
Cortical blindness, seizures, stridor, constipation and developmental delay |
| CDKN1C NM_000076.2 c.703C>T |
Beckwith-Wiedemann Syndrome |
| CHRNB1 NM_000747.3 c.865G>A |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
| COL4A4 NM_000092.4 c.2420del |
IgA Nephropathy, Susceptibility to, 2 |
| DYNC1H1 NM_001376.5 c.10973G>A |
Developmental regression, seizure, microcephaly, cataract, lissencephaly, pachygyria, grey matter heterotopia, hypoplasia of the corpus callosum |
| FGFR3 NM_000142.4 c.742C>T |
Thanatophoric Dysplasia, Type I |
| FOXG1 NM_005249.5 c.1397G>A |
Rett Syndrome, Congenital Variant |
| GATA3 NM_001002295.1 c.35_36del |
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease |
| HBA1 NM_000558.5 c.283G>T |
Alpha-Thalassemia |
| HBA1 NM_000558.5 c.55G>C |
Alpha-Thalassemia |
| HBG2 NM_000184.3 c.178A>G |
Fetal Hemoglobin Quantitative Trait Locus 1 |
| ITPR1 NM_002222.6 c.3758T>A |
Spinocerebellar Ataxia 15 |
| KCNH2 NM_000238.4 c.1609C>T |
Long QT Syndrome 2 |
| KCNH2 NM_000238.4 c.2342dup |
Long QT Syndrome 2 |
| KCNH2 NM_000238.4 c.2362G>A |
Long QT Syndrome 2 |
| KCNH2 NM_000238.4 c.3208C>T |
Long QT Syndrome 2 |
| KIF5C NM_004522.3 c.404G>A |
Cortical Dysplasia, Complex, with Other Brain Malformations 2 |
| KMT2A NM_001197104.1 c.3248G>A |
Kabuki Syndrome 1 |
| LDLR NM_000527.4 c.2027del |
Hypercholesterolemia, Familial, 1 |
| LDLR NM_000527.4 c.2447_2450 dupAGAA |
Hypercholesterolemia, Familial, 1 |
| MAST1 NM_014975.3 c.3539T>G |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
| MYBPC3 NM_000256.3 c.776delinsTT |
Dilated cardiomyopathy |
| NF1 NM_001042492.2 c.1846del |
Neurofibromatosis, Type I |
| NF1 NM_001042492.3 c.1062+2T>C |
Neurofibromatosis, Type I |
| NF1 NM_001042492.3 c.2540T>C |
Neurofibromatosis, Type I |
| NF1 NM_001042492.3 c.3291del |
Neurofibromatosis, Type I |
| NF1 NM_001042492.3 c.4065_4066del |
Neurofibromatosis, Type I |
| NF1 NM_001042492.3 c.5347del |
Neurofibromatosis, Type I |
| NF1 NM_001042492.3 c.6374T>C |
Neurofibromatosis, Type I |
| NF1 NM_001042492.3 c.6546C>G |
Neurofibromatosis, Type I |
| PITX3 NM_005029.3 c.640_656del |
Anterior Segment Dysgenesis 1 |
| PSMD12 NM_002816.5 c.367C>T |
Stankiewicz-Isidor syndrome |
| ZEB2 NM_014795.3 c.1773_1779del |
Mowat-Wilson Syndrome |
| ABCA12 NM_173076.2 c.2486dup |
Ichthyosis Congenita, Harlequin Fetus Type |
| ABCA12 NM_173076.2 c.335del |
Ichthyosis, Congenital, Autosomal Recessive 4A |
| ABCA12 NM_173076.3 c.2785C>T |
Ichthyosis, Congenital, Autosomal Recessive 4A |
| ABCA12 NM_173076.3 c.3470C>T |
Ichthyosis, Congenital, Autosomal Recessive 4A |
| ABCA12 NM_173076.3 c.6852G>C |
Ichthyosis, Congenital, Autosomal Recessive 4A |
| ABCA12 NM_173076.3 c.6900C>A |
Ichthyosis, Congenital, Autosomal Recessive 4A |
| ABCA4 NM_000350.3 c.2570T>C |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.2657del |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.2791G>A |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.3259G>A |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.3623T>G |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.3898C>T |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.4328G>A |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.4567C>T |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.4793C>A |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.5882G>A |
Stargardt Disease 1 |
| ABCA4 NM_000350.3 c.607_611del |
Stargardt Disease 1 |
| ACADM NM_000016.6 c.347G>A |
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency of |
| ACADM NM_000016.6 c.362C>T |
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency of |
| ACADM NM_000016.6 c.985A>G |
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency of |
| ACAT1 NM_000019.3 c.854C>T |
Alpha-Methylacetoacetic Aciduria |
| ACAT1 NM_000019.3 c.86_87dupTG |
Alpha-Methylacetoacetic Aciduria |
| ADAMTS10 NM_030957.3 c.1190+1G>A |
Weill-Marchesani syndrome 1, recessive |
| ADD3 NM_016824.5 c.1100G>A |
Cerebral Palsy, Spastic Quadriplegic 3 |
| ADIPOR1 NM_001290553.1 c.346C>A |
microcephaly, global developmental delay, ataxia |
| AHI1 NM_001134831.2 c.1051C>T |
Joubert Syndrome 3 |
| AIRE NM_000383.2 c.1236_1237 insGCCG |
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia |
| AIRE NM_000383.2 c.93_94insT |
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia |
| AIRE NM_000383.3 c.1A>G |
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia |
| AIRE NM_000383.3 c.205_208dup |
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia |
| AIRE NM_000383.3 c.845_846insC |
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia |
| AK2 NM_001625.4 c.545C>A |
Reticular Dysgenesia |
| AKR1D1 NM_005989.4 c.781C>T |
Bile Acid Synthesis Defect, Congenital, 2 |
| ALDH7A1 NM_001182.4 c.567_611del |
Epilepsy, Pyridoxine Dependent |
| ALG9 NM_024740.2 c.694G>C |
Congenital Disorder of Glycosylation, Type Il |
| ALMS1 NM_015120.4 c.10945G>T |
Leber Congenital Amaurosis 1 |
| ALOX12B NM_001139.3 c.944T>C |
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 |
| AMHR2 NM_020547.3 c.1219C>T |
Persistent Mullerian Duct Syndrome, Types I and II |
| AMHR2 NM_020547.3 c.762C>G |
Persistent Mullerian Duct Syndrome, Types I and II |
| AMHR2 NM_020547.3 c.994C>T |
Persistent Mullerian Duct Syndrome, Types I and II |
| ANTXR2 NM_058172.5 c.134T>C |
Hyaline Fibromatosis Syndrome |
| ARID1B NM_017519.3 c.3650+1G>C |
Coffin-Siris Syndrome 1 |
| ARID1B NM_017519.3 c.5080C>T |
Coffin-Siris Syndrome 1 |
| ARSA NM_001085427.2 c.890C>A |
Metachromatic Leukodystrophy |
| ARV1 NM_022786.2 c.565G>A |
Developmental And Epileptic Encephalopathy 38 |
| ASAH1 NM_177924.5 c.1096A>C |
Farber Lipogranulomatosis |
| ASAH1 NM_177924.5 c.290T>G |
Farber Lipogranulomatosis |
| ASAH1 NM_177924.5 c.505T>C |
Farber Lipogranulomatosis |
| ASL NM_000048.4 c.1060C>T |
Argininosuccinic Aciduria |
| ASL NM_000048.4 c.1081G>T |
Argininosuccinic Aciduria |
| ASL NM_000048.4 c.1143+5G>C |
Argininosuccinic Aciduria |
| ASL NM_000048.4 c.332G>A |
Argininosuccinic Aciduria |
| ASL NM_000048.4 c.343G>T |
Argininosuccinic Aciduria |
| ASL NM_000048.4 c.469G>A |
Argininosuccinic Aciduria |
| ASL NM_000048.4 c.496C>T |
Argininosuccinic Aciduria |
| ASL NM_000048.4 c.544C>T |
Argininosuccinic Aciduria |
| ASPH NM_004318.3 c.1852_1856 delAACCTinsGGG |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs |
| ASPM NM_018136.5 c.9751del |
Microcephaly 5, Primary, Autosomal Recessive |
| ASS1 NM_000050.4 c.535T>C |
Citrullinemia, Classic |
| ATF6 NM_007348.4 c.949C>T |
Achromatopsia 7 |
| ATP7B NM_000053.3 c.4021G>A |
Wilson Disease |
| ATP7B NM_000053.3 c.4193delC |
Wilson Disease |
| ATP8B1 NM_001374385.1 c.379C>G |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
| BBS5 NM_152384.3 c.425T>A |
Bardet-Biedl syndrome 5 |
| CBS NM_000071.3 c.1006C>T |
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency |
| CBS NM_000071.3 c.457G>A |
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency |
| CBS NM_000071.3 c.969G>A |
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency |
| CCN6 NM_003880.3 c.246del |
Arthropathy, Progressive Pseudorheumatoid, of Childhood |
| CEP290 NM_025114.4 c.3775_3776delAG |
Joubert Syndrome 5 |
| CEP290 NM_025114.4 c.5668G>T |
Joubert Syndrome 5 |
| CERKL NM_001030311.2 c.999C>A |
Retinitis Pigmentosa 26 |
| CFTR NM_000492.3 c.1418del |
Cystic Fibrosis |
| CFTR NM_000492.3 c.1647T>G |
Cystic Fibrosis |
| CFTR NM_000492.3 c.1911del |
Cystic Fibrosis |
| CFTR NM_000492.3 c.274-2A>G |
Cystic Fibrosis |
| CFTR NM_000492.3 c.2988+1G>A |
Cystic Fibrosis |
| CFTR NM_000492.3 c.3700A>G |
Cystic Fibrosis |
| CFTR NM_000492.3 c.3909C>G |
Cystic Fibrosis |
| CFTR NM_000492.3 c.416A>T |
Cystic Fibrosis |
| CFTR NM_000492.3 c.579+1G>A |
Cystic Fibrosis |
| CFTR NM_000492.3 c.1522_1524del |
Vas Deferens, Congenital Bilateral Aplasia of |
| CHRNG NM_005199.5 c.320T>G |
Multiple Pterygium Syndrome, Escobar Variant |
| CLRN1 NM_174878.3 c.254-649T>G |
Usher Syndrome, Type IIIA |
| CNGA3 NM_001298.3 c.1190G>T |
Achromatopsia 2 |
| CNGA3 NM_001298.3 c.556C>T |
Achromatopsia 2 |
| CNGA3 NM_001298.3 c.847C>T |
Achromatopsia 2 |
| CNGA3 NM_001298.3 c.1579C>A |
Leber Congenital Amaurosis 1 |
| COL11A1 NM_001854.3 c.2702G>A |
Fibrochondrogenesis 1 |
| COL11A1 NM_001854.3 c.3708+437T>G |
Fibrochondrogenesis 1 |
| COL11A1 NM_001854.3 c.4084C>T |
Fibrochondrogenesis 1 |
| COL18A1 NM_030582.4 c.3283C>T |
Knobloch Syndrome 1 |
| COL27A1 NM_032888.2 c.3556-2A>G |
Steel Syndrome |
| CPS1 NM_001875.4 c.1590dupT |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due to |
| CRB1 NM_201253.3 c.2024G>A |
Leber Congenital Amaurosis 8 |
| CRB1 NM_201253.2 c.2234C>T |
Retinitis Pigmentosa 12 |
| CRB1 NM_201253.2 c.80G>C |
Retinitis Pigmentosa 12 |
| CRB1 NM_201253.3 c.2505_2508del |
Retinitis Pigmentosa 12 |
| CRLF1 NM_004750.5 c.527+5G>A |
Cold-Induced Sweating Syndrome 1 |
| CTNS NM_004937.3 c.1013T>G |
Cystinosis, Nephropathic |
| CTNS NM_004937.3 c.422C>T |
Cystinosis, Nephropathic |
| CTNS NM_004937.3 c.530A>G |
Cystinosis, Nephropathic |
| CTNS NM_004937.3 c.562-1G>C |
Cystinosis, Nephropathic |
| CTNS NM_004937.3 c.681G>A |
Cystinosis, Nephropathic |
| CTNS NM_004937.3 c.922G>A |
Cystinosis, Nephropathic |
| CTSC NM_001814.4 c.815G>C |
Papillon-Lefevre Syndrome |
| CTSC NM_001814.4 c.899G>A |
Papillon-Lefevre Syndrome |
| CUBN NM_001081.3 c.434G>A |
Megaloblastic Anemia 1 |
| CYP1B1 NM_000104.3 c.1064_1076 delGAGTGCAGGCAG |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.1120G>A |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.1168C>A |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.1379T>A |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.1405C>T |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.1454C>T |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.1517_1536del |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.182G>A |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.230T>C |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.442delG |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.517G>A |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.756C>A |
Glaucoma 3, Primary Congenital, A |
| CYP1B1 NM_000104.3 c.868dup |
Glaucoma 3, Primary Congenital, A |
| DBT NM_001918.4 c.1281+1G>T |
Maple Syrup Urine Disease |
| DGUOK NM_080916.3 c.427T>C |
Mitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type) |
| DGUOK NM_080916.3 c.763_765del |
Mitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type) |
| DHCR7 NM_001360.2 c.1055G>A |
Smith-Lemli-Opitz Syndrome |
| DHCR7 NM_001360.2 c.861C>A |
Smith-Lemli-Opitz Syndrome |
| DLD NM_000108.5 c.685G>T |
Dihydrolipoamide Dehydrogenase Deficiency |
| DNMT3B NM_006892.4 c.2506G>A |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
| DOK7 NM_173660.5 c.1124_1127dup |
Myasthenic Syndrome, Congenital, 10 |
| DOK7 NM_173660.5 c.1457dup |
Myasthenic Syndrome, Congenital, 10 |
| DPP7 NM_016219.4 c.1942C>T |
Rafiq syndrome |
| DSP NM_004415.3 c.7097G>A |
Skin Fragility-Woolly Hair Syndrome |
| ECM1 NM_004425.4 c.1300_1301delAA |
Lipoid Proteinosis of Urbach and Wiethe |
| ECM1 NM_004425.4 c.806G>A |
Lipoid Proteinosis of Urbach and Wiethe |
| EIF2AK3 NM_004836.7 c.1566_1569GAAA[1] |
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus |
| EIF2AK3 NM_004836.7 c.2985+1G>A |
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus |
| EPG5 NM_020964.3 c.1249C>T |
Vici Syndrome |
| EPG5 NM_020964.3 c.3693G>A |
Vici Syndrome |
| EPG5 NM_020964.3 c.4751T>A |
Vici Syndrome |
| EPG5 NM_020964.3 c.4783C>T |
Vici Syndrome |
| ERCC5 NM_000123.4 c.205C>T |
Xeroderma Pigmentosum, Complementation Group G |
| ETFDH NM_004453.4 c.807A>C |
Multiple Acyl-CoA Dehydrogenation Deficiency |
| ETHE1 NM_014297.5 c.488G>A |
Encephalopathy, Ethylmalonic |
| EVC2 NM_147127.5 c.2047-1G>T |
Ellis-van Creveld Syndrome |
| EXOSC9 NM_005033.3 c.41T>C |
Pontocerebellar Hypoplasia, Type 1D |
| EYS NM_001142800.2 c.875_890 delinsTTTCT |
Retinitis Pigmentosa 25 |
| FAH NM_001374377.1 c.1001C>T |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.1156G>C |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.1195G>C |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.1A>G |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.364+1G>A |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.509G>T |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.607-1G>A |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.709C>T |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.782C>T |
Tyrosinemia, Type I |
| FAH NM_001374377.1 c.787G>A |
Tyrosinemia, Type I |
| FBXL4 NM_012160.4 c.1067del |
Mitochondrial DNA Depletion Syndrome 11 |
| FBXL4 NM_012160.4 c.1304G>T |
Mitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type) |
| FBXO32 NM_058229.4 c.727G>C |
Cardiomyopathy, Dilated, 1A |
| FOXI1 NM_012188.4 c.436C>T |
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness |
| FRAS1 NM_025074.7 c.9524A>C |
Fraser Syndrome 1 |
| G6PC NM_000151.3 c.247C>T |
Glycogen Storage Disease I |
| GAA NM_000152.4 c.1327-2A>G |
Glycogen Storage Disease II |
| GAA NM_000152.4 c.340insT |
Glycogen Storage Disease II |
| GCDH NM_000159.4 c.1204C>T |
Glutaric Acidemia I |
| GCDH NM_000159.4 c.242C>T |
Glutaric Acidemia I |
| GCDH NM_000159.4 c.427G>A |
Glutaric Acidemia I |
| GDF5 NM_001319138.2 c.1285T>C |
Chondrodysplasia, Grebe Type |
| GJB2 NM_004004.5 c.35delG |
Deafness, Autosomal Recessive 1A |
| GJB2 NM_004004.5 c.506G>A |
Deafness, Autosomal Recessive 1A |
| GJB2 NM_004004.6 c.-1G>A |
Deafness, Autosomal Recessive 1A |
| GLB1 NM_000404.4 c.145C>T |
GM1-Gangliosidosis, Type I |
| GLB1 NM_000404.4 c.171C>G |
GM1-Gangliosidosis, Type I |
| GLB1 NM_000404.4 c.245+1G>A |
GM1-Gangliosidosis, Type I |
| GLB1 NM_000404.4 c.451G>T |
GM1-Gangliosidosis, Type I |
| GLB1 NM_000404.4 c.914+4A>G |
GM1-Gangliosidosis, Type I |
| GLDC NM_000170.3 c.919G>T |
Glycine Encephalopathy |
| GORAB NM_152281.3 c.231dup |
Geroderma Osteodysplasticum |
| GORAB NM_152281.3 c.658G>C |
Geroderma Osteodysplasticum |
| GRM7 NM_000844.4 c.1973G>A |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
| GRM7 NM_000844.4 c.461T>C |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
| GSS NM_000178.4 c.491G>A |
Glutathione Synthetase Deficiency |
| GSS NM_000178.4 c.847C>T |
Glutathione Synthetase Deficiency |
| HBA2 NM_000517.6 c.*92A>G |
Alpha-Thalassemia |
| HBA2 NM_000517.6 c.*94A>G |
Alpha-Thalassemia |
| HBA2 NM_000517.6 c.427T>C |
Alpha-Thalassemia |
| HBA2 NM_000517.6 c.95+2_95+6del |
Alpha-Thalassemia |
| HBB NM_000518.5 c.118C>T |
Beta-Thalassemia |
| HBB NM_000518.5 c.20del |
Beta-Thalassemia |
| HBB NM_000518.5 c.27dup |
Beta-Thalassemia |
| HBB NM_000518.5 c.315+1G>A |
Beta-Thalassemia |
| HBB NM_000518.5 c.-50A>C |
Beta-Thalassemia |
| HBB NM_000518.5 c.92+5G>C |
Beta-Thalassemia |
| HBB NM_000518.5 c.93-21_96del |
Beta-Thalassemia |
| HBB NM_000518.5 c.93-21G>A |
Beta-Thalassemia |
| HBB NM_000518.5 c.93-3T>G |
Beta-Thalassemia |
| HEXA NM_000520.5 c.1511G>A |
Tay-Sachs Disease |
| HEXA NM_000520.5 c.1528C>T |
Tay-Sachs Disease |
| HEXA NM_000520.5 c.78G>A |
Tay-Sachs Disease |
| HEXA NM_000520.6 c.2T>C |
Tay-Sachs Disease |
| HEXB NM_000521.3 c.1169+3_1169+10 delAAGTTGTT |
Sandhoff Disease |
| HEXB NM_000521.3 c.1597C>T |
Sandhoff Disease |
| HEXB NM_000521.3 c.94C>T |
Sandhoff Disease |
| HEXB NM_000521.4 c.272G>C |
Sandhoff Disease |
| HEXB NM_000521.4 c.826_829del |
Sandhoff Disease |
| HGD NM_000187.3 c.174delA |
Alkaptonuria |
| HSD3B7 NM_025193.4 c.45_46del |
Bile Acid Synthesis Defect, Congenital, 1 |
| IFT140 NM_014714.4 c.1990G>A |
Retinitis Pigmentosa 80 |
| IGHMBP2 NM_002180.2 c.958C>T |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
| IKBKB NM_001556.3 c.849G>A |
Failure to thrive, recurrent infections, two sibling died with the same presentation |
| IMPG2 NM_016247.4 c.189dup |
Retinitis Pigmentosa 56 |
| IMPG2 NM_016247.4 c.2274G>A |
Retinitis Pigmentosa 56 |
| IMPG2 NM_016247.4 c.3262C>T |
Retinitis Pigmentosa 56 |
| IMPG2 NM_016247.4 c.533+4_533+7del |
Retinitis Pigmentosa 56 |
| INPP5E NM_019892.6 c.1534C>T |
Joubert Syndrome 1 |
| INS-IGF2 NM_000207.3 c.-331G>C |
Diabetes Mellitus, Transient Neonatal, 1 |
| INSR NM_000208.4 c.421C>T |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities |
| IQCB1 NM_001023570.3 c.1479C>A |
Leber Congenital Amaurosis 1 |
| IQCB1 NM_001023570.4 c.1130-1G>C |
Leber Congenital Amaurosis 1 |
| ITGA6 NM_001079818.3 c.140C>T |
Epidermolysis Bullosa Junctionalis with Pyloric Atresia |
| IVD NM_002225.4 c.1136_1138+4del |
Isovaleric Acidemia |
| IVD NM_002225.5 c.1172G>T |
Isovaleric Acidemia |
| IVD NM_002225.5 c.1175G>A |
Isovaleric Acidemia |
| IVD NM_002225.5 c.1184G>A |
Isovaleric Acidemia |
| IVD NM_002225.5 c.286+5G>T |
Isovaleric Acidemia |
| KCNQ1 NM_000218.2 c.1251+1G>T |
Jervell and Lange-Nielsen Syndrome 1 |
| KCNQ1 NM_000218.2 c.1700T>C |
Jervell and Lange-Nielsen Syndrome 1 |
| KCNQ1 NM_000218.2 c.604G>A |
Jervell and Lange-Nielsen Syndrome 1 |
| KCNQ1 NM_000218.2 c.817C>T |
Jervell and Lange-Nielsen Syndrome 1 |
| KCNQ1 NM_000218.2 c.820_830del |
Jervell and Lange-Nielsen Syndrome 1 |
| KCNQ1 NM_000218.3 c.1484_1485CT[1] |
Jervell and Lange-Nielsen Syndrome 1 |
| KCNQ1 NM_000218.2 c.387-5T>A |
Long QT Syndrome 1 |
| KCNQ1 NM_000218.2 c.773A>C |
Long QT Syndrome 1 |
| KCNQ2 NM_172107.4 c.1126del |
Seizures, Benign Familial Neonatal, 1 |
| L2HGDH NM_024884.2 c.1015delA |
L-2-Hydroxyglutaric Aciduria |
| L2HGDH NM_024884.2 c.1319C>A |
L-2-Hydroxyglutaric Aciduria |
| L2HGDH NM_024884.2 c.467G>T |
L-2-Hydroxyglutaric Aciduria |
| LACC1 NM_153218.4 c.850T>C |
Juvenile Arthritis |
| LAMB3 NM_000228.3 c.1296_1297insA |
Epidermolysis Bullosa, Junctional, Non-Herlitz Type |
| LAMB3 NM_000228.3 c.3247C>T |
Epidermolysis Bullosa, Junctional, Non-Herlitz Type |
| LAMC2 NM_005562.3 c.136C>T |
Epidermolysis Bullosa, Junctional, Non-Herlitz Type |
| LHFPL5 NM_182548.4 c.472C>T |
Deafness, Autosomal Recessive 67 |
| LIFR NM_001127671.2 c.653dup |
Stuve-Wiedemann Syndrome |
| LRAT NM_004744.5 c.233_242del |
Leber Congenital Amaurosis 14 |
| LRAT NM_004744.5 c.241_242del |
Leber Congenital Amaurosis 14 |
| LRBA NM_001199282.2 c.2032C>T |
Immunodeficiency, Common Variable, 8, with Autoimmunity |
| LRBA NM_006726.4 c.6657_6658delCT |
Immunodeficiency, Common Variable, 8, with Autoimmunity |
| LRP2 NM_004525.3 c.7564T>C |
Donnai-Barrow Syndrome |
| LRRC14 NM_004260.3 c.1000G>T |
Rothmund-Thomson Syndrome |
| MAN2B1 NM_000528.3 c.2119C>T |
Mannosidosis, Alpha B, Lysosomal |
| MAN2B1 NM_000528.4 c.2368C>T |
Mannosidosis, Alpha B, Lysosomal |
| MCCC1 NM_020166.5 c.1106C>G |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
| MCCC1 NM_020166.5 c.694C>T |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
| MCCC1 NM_020166.5 c.89+2_89+34del |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
| MCCC2 NM_022132.5 c.1015G>A |
3-Methylcrotonyl-CoA carboxylase 2 deficiency |
| MERTK NM_006343.3 c.1335_1336delAG |
Retinitis Pigmentosa 38 |
| MIPEP NM_005932.4 c.1027A>G |
Combined Oxidative Phosphorylation Deficiency 31 |
| MKS1 NM_017777.3 c.417+1G>A |
Meckel Syndrome, Type 1 |
| MKS1 NM_017777.4 c.1066C>T |
Meckel Syndrome, Type 1 |
| MKS1 NM_017777.4 c.1126dup |
Meckel Syndrome, Type 1 |
| MMAB NM_052845.4 c.197-1G>T |
Methylmalonic Aciduria, cblB Type |
| MPDZ NM_003829.5 c.1744C>G |
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 |
| MPDZ NM_003829.5 c.394G>A |
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 |
| MPI NM_002435.2 c.863C>T |
Congenital Disorder of Glycosylation, Type Ib |
| MTPAP NM_018109.3 c.1468G>T |
Spastic Ataxia 4, Autosomal Recessive |
| MYO7A NM_000260.4 c.5660C>T |
Deafness, Autosomal Recessive 2 |
| MYO7A NM_000260.4 c.578C>T |
Leber Congenital Amaurosis 1 |
| MYO7A NM_000260.4 c.487G>A |
Usher Syndrome Type I |
| NAGA NM_000262.3 c.838C>T |
Schindler Disease, Type I |
| NALCN NM_001350748.2 c.1489del |
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1 |
| NALCN NM_001350748.2 c.321G>A |
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1 |
| NALCN NM_001350748.2 c.4237C>T |
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1 |
| NGF NM_002506.3 c.680C>A |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
| NGF NM_002506.3 c.681_682del |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
| NKX6-2 NM_177400.3 c.196del |
Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy |
| NKX6-2 NM_177400.3 c.487C>G |
Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy |
| NKX6-2 NM_177400.3 c.608G>A |
Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy |
| NPHP4 NM_015102.5 c.673G>T |
Senior-Loken Syndrome 4 |
| NPHS1 NM_004646.3 c.1134G>A |
Nephrotic Syndrome, Type 1 |
| NPHS2 NM_014625.4 c.779T>A |
Nephrotic Syndrome, Type 2 |
| NR2E3 NM_016346.4 c.131C>A |
Enhanced S-Cone Syndrome |
| NR2E3 NM_016346.4 c.931C>T |
Enhanced S-Cone Syndrome |
| NR2E3 NM_016346.4 c.932G>A |
Retinitis Pigmentosa 37 |
| NSUN2 NM_017755.6 c.1020del |
Mental Retardation, Autosomal Recessive 5 |
| OTOF NM_194248.2 c.709C>T |
Deafness, Autosomal Recessive 9 |
| OXA1L NM_003982.4 c.1005C>A |
Lysinuric Protein Intolerance |
| OXA1L NM_003982.4 c.999G>C |
Lysinuric Protein Intolerance |
| P3H2 NM_018192.4 c.1543_1546del |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
| PAH NM_000277.3 c.1066-11G>A |
Phenylketonuria |
| PAH NM_000277.3 c.168+5G>C |
Phenylketonuria |
| PAH NM_000277.3 c.755G>A |
Phenylketonuria |
| PAH NM_000277.3 c.782G>A |
Phenylketonuria |
| PAH NM_000277.3 c.970-2A>G |
Phenylketonuria |
| PCCA NM_000282.4 c.1594_1597 delTTGT |
Propionic Acidemia |
| PCSK1 NM_000439.5 c.1312C>T |
Proprotein Convertase 1/3 Deficiency |
| PDE6A NM_000440.2 c.1358_1359del |
Retinitis Pigmentosa 43 |
| PDE6B NM_000283.3 c.992+1G>A |
Retinitis Pigmentosa 40 |
| PEX16 NM_004813.4 c.859C>T |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
| PEX6 NM_000287.4 c.611C>G |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
| PHGDH NM_006623.3 c.1286G>T |
Neu-Laxova Syndrome 1 |
| PHGDH NM_006623.4 c.418G>A |
Neu-Laxova Syndrome 1 |
| PHGDH NM_006623.4 c.488G>A |
Neu-Laxova Syndrome 1 |
| PKHD1 NM_138694.3 c.10628T>G |
Polycystic Kidney Disease 4 with or without Polycystic Liver Disease |
| PKHD1 NM_138694.3 c.3539G>A |
Polycystic Kidney Disease 4 with or without Polycystic Liver Disease |
| PKHD1 NM_138694.3 c.4870C>T |
Polycystic Kidney Disease 4 with or without Polycystic Liver Disease |
| PLEC NM_000445.5 c.9085C>T |
Epidermolysis Bullosa Simplex with Pyloric Atresia |
| PLOD1 NM_001316320.2 c.1096C>T |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
| PNKP NM_007254.4 c.1385G>C |
Microcephaly, Seizures, And Developmental Delay |
| POLG NM_002693.3 c.3286C>T |
Mitochondrial DNA Depletion Syndrome 4A (Alpers Type) |
| PRDX1 NM_015506.3 c.271dup |
Methylmalonic Aciduria and Homocystinuria, cblC Type |
| PRG4 NM_005807.6 c.1320dupC |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
| PRG4 NM_005807.6 c.3125_3128del |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
| PRG4 NM_005807.6 c.3139_3140del |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
| PRG4 NM_005807.6 c.3277_3278del |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
| PRG4 NM_005807.6 c.4078A>T |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
| PRG4 NM_005807.6 c.923_924del |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
| PROC NM_000312.3 c.1238_1241 delCCTG |
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive |
| PROC NM_000312.3 c.796+3A>T |
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive |
| PROC NM_000312.3 c.811C>T |
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive |
| PRX NM_181882.3 c.1090C>T |
Hypertrophic Neuropathy of Dejerine-Sottas |
| PYCR2 NM_013328.4 c.28C>T |
Leukodystrophy, Hypomyelinating, 10 |
| PYCR2 NM_013328.4 c.796C>T |
Leukodystrophy, Hypomyelinating, 10 |
| RAB23 NM_016277.4 c.482-1G>A |
Carpenter Syndrome 1 |
| RDH12 NM_152443.3 c.139G>A |
Leber Congenital Amaurosis 13 |
| RDH12 NM_152443.3 c.226G>C |
Leber Congenital Amaurosis 13 |
| RNASEH2C NM_032193.4 c.205C>T |
Aicardi-Goutieres Syndrome 3 |
| RP1 NM_006269.1 c.3428del |
Retinitis Pigmentosa 1 |
| RP1 NM_006269.1 c.3677dup |
Retinitis Pigmentosa 1 |
| RP1 NM_006269.2 c.3396G>A |
Retinitis Pigmentosa 1 |
| RP1 NM_006269.2 c.4552A>T |
Retinitis Pigmentosa 1 |
| RP1 NM_006269.2 c.606C>A |
Retinitis Pigmentosa 1 |
| RP1 NM_006269.2 c.662del |
Retinitis Pigmentosa 1 |
| RPE65 NM_000329.3 c.643+1G>C |
Leber Congenital Amaurosis 2 |
| RPGRIP1 NM_020366.3 c.1107del |
Leber Congenital Amaurosis 6 |
| RPGRIP1 NM_020366.3 c.2236G>A |
Leber Congenital Amaurosis 6 |
| RPGRIP1 NM_020366.3 c.2608_2609insA |
Leber Congenital Amaurosis 6 |
| RPGRIP1 NM_020366.3 c.2662C>T |
Leber Congenital Amaurosis 6 |
| RPGRIP1 NM_020366.3 c.3330T>A |
Leber Congenital Amaurosis 6 |
| SERPINB8 NM_002640.4 c.2T>C |
Peeling Skin Syndrome 5 |
| SHISA5 NM_033629.6 c.341G>A |
Cognitive impairment, hypotonia, joint contracture, glaucoma, brain atrophy, sibling died with the same features |
| SIL1 NM_022464.5 c.1030-9G>A |
Marinesco-Sjogren Syndrome |
| SLC19A2 NM_006996.3 c.581C>T |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
| SLC22A5 NM_003060.3 c.248G>T |
Carnitine Deficiency, Systemic Primary |
| SLC22A5 NM_003060.3 c.760C>T |
Carnitine Deficiency, Systemic Primary |
| SLC4A4 NM_001098484.3 c.2230G>A |
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation |
| SLC7A7 NM_003982.4 c.499+1G>C |
Lysinuric Protein Intolerance |
| SLURP1 NM_020427.3 c.1A>C |
Mal de Meleda |
| SNX10 NM_001199835.1 c.112-1G>C |
Osteopetrosis, autosomal recessive 8 |
| SPART NM_015087.4 c.1324G>C |
Spastic Paraplegia 20, Autosomal Recessive |
| SPATA7 NM_018418.5 c.322C>T |
Leber Congenital Amaurosis 3 |
| SPINT2 NM_021102.4 c.443G>A |
Diarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital Anomalies |
| SRD5A3 NM_024592.5 c.57G>A |
Congenital Disorder Of Glycosylation, Type Iq |
| ST14 NM_021978.4 c.2269+1G>A |
Ichthyosis, Congenital, Autosomal Recessive 11 |
| STRC NM_153700.2 c.4510del |
Deafness, Autosomal Recessive 16 |
| SUMF1 NM_182760.4 c.689A>G |
Multiple Sulfatase Deficiency |
| SUMF1 NM_182760.4 c.691dup |
Multiple Sulfatase Deficiency |
| SUOX NM_000456.3 c.520del |
Sulfocysteinuria |
| SUOX NM_000456.3 c.650G>A |
Sulfocysteinuria |
| TALDO1 NM_006755.2 c.574C>T |
Transaldolase Deficiency |
| TALDO1 NM_006755.2 c.793del |
Transaldolase Deficiency |
| TBCK NM_001163435.3 c.1897+1G>A |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 |
| TBX19 NM_005149.3 c.604-1G>C |
ACTH Deficiency, Isolated |
| TGM1 NM_000359.3 c.1085T>G |
Ichthyosis, Lamellar, 1 |
| TGM1 NM_000359.3 c.398_407dup |
Ichthyosis, Lamellar, 1 |
| TGM1 NM_000359.3 c.975_976CT[1] |
Ichthyosis, Lamellar, 1 |
| THSD1 NM_199263.3 c.1163_1170del |
Hydrops Fetalis, Nonimmune |
| TK2 NM_004614.5 c.173A>G |
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) |
| TMEM138 NM_016464.5 c.128+5G>A |
Joubert Syndrome 16 |
| TMEM138 NM_016464.5 c.380C>T |
Joubert Syndrome 16 |
| TMEM138 NM_016464.5 c.389A>G |
Joubert Syndrome 16 |
| TMEM67 NM_153704.5 c.1413-2A>G |
Meckel Syndrome, Type 3 |
| TMEM67 NM_153704.6 c.2306delT |
Meckel Syndrome, Type 3 |
| TMEM67 NM_153704.6 c.457T>G |
Meckel Syndrome, Type 3 |
| TRAPPC11 NM_021942.6 c.2938G>A |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
| TRPM1 NM_001252020.1 c.1577T>A |
Night Blindness, Congenital Stationary, Type 1C |
| TRPM1 NM_001252020.1 c.2394del |
Night Blindness, Congenital Stationary, Type 1C |
| TTLL5 NM_015072.4 c.1039T>C |
Cone-Rod Dystrophy 19 |
| TTN NM_133378.4 c.74633C>T |
Cardiomyopathy, Dilated, 1G |
| TTN NM_133378.4 c.9160G>A |
Cardiomyopathy, Dilated, 1G |
| TULP1 NM_003322.6 c.901C>T |
Leber Congenital Amaurosis 15 |
| TWNK NM_021830.5 c.1198C>T |
Mitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type) |
| UNC80 NM_032504.1 c.520C>T |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 |
| UROC1 NM_144639.3 c.855G>A |
Urocanase Deficiency |
| USH2A NM_206933.2 c.4033G>C |
Retinitis Pigmentosa 39 |
| USH2A NM_206933.4 c.486-1G>C |
Usher Syndrome, Type IIA |
| VDR NM_000376.3 c.2T>A |
Prostate Cancer |
| VDR NM_001364085.1 c.137G>T |
Vitamin D-Dependent Rickets, Type II |
| VDR NM_001364085.1 c.821G>A |
Vitamin D-Dependent Rickets, Type II |
| VLDLR NM_003383.5 c.2117G>T |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 |
| VPS13B NM_017890.4 c.1219C>T |
Cohen Syndrome |
| VPS26C NM_006052.2 c.178G>T |
neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features |
| VPS33B NM_018668.4 c.1312C>T |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
| VPS33B NM_018668.4 c.1406-2A>G |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
| VPS33B NM_018668.4 c.350del |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
| VPS33B NM_018668.4 c.700+1G>A |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
| WDR81 NM_001163673.1 c.388C>T |
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 |
| WFS1 NM_006005.3 c.1441_1447dup |
Wolfram Syndrome 1 |
| WHRN NM_015404.4 c.1267C>T |
Deafness, autosomal recessive 31 |
| ZMPSTE24 NM_005857.5 c.627+1G>C |
Restrictive Dermopathy, Lethal |
| ABCD1 NM_000033.4 c.394T>C |
Adrenoleukodystrophy |
| ALG13 NM_001099922.3 c.320A>G |
Developmental and epileptic encephalopathy 36 |
| CDKL5 NM_003159.2 c.593G>A |
Epileptic Encephalopathy, Early Infantile, 2 |
| FGD1 NM_004463.2 c.53del |
Aarskog-Scott Syndrome |
| G6PD NM_001360016.2 c.143T>C |
Anemia, Nonspherocytic Hemolytic, due to G6PD Deficiency |
| G6PD NM_001360016.2 c.563C>T |
Anemia, Nonspherocytic Hemolytic, due to G6PD Deficiency |
| GLA NM_000169.3 c.1277_1278del |
Fabry Disease |
| GLRA1 NM_000171.4 c.1214G>A |
Hyperekplexia, Hereditary 1 |
| L1CAM NM_000425.5 c.604G>T |
MASA Syndrome |
| NR0B1 NM_000475.4 c.1130A>G |
Adrenal Hypoplasia, Congenital |
| PAK3 NM_001128166.2 c.1279T>C |
Intellectual disabilities, macrocephaly, obesity |
| PDHA1 NM_000284.4 c.787C>G |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
| RS1 NM_000330.4 c.304C>T |
Retinoschisis 1, X-Linked, Juvenile |
| WAS NM_000377.2 c.559+5G>C |
Wiskott-Aldrich Syndrome |