| RS121908943 |
DNMT3B
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1 |
| RS121908944 |
DNMT3B
|
Health Risk |
Pathogenic |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS121908945 |
DNMT3B
|
Health Risk |
Pathogenic |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS121908946 |
DNMT3B
|
Health Risk |
Likely pathogenic |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1 |
| RS121908947 |
DNMT3B
|
Health Risk |
Pathogenic |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS121908948 |
NOG
|
Health Risk |
Pathogenic |
Proximal symphalangism 1A, Proximal symphalangism 1A |
| RS121908949 |
NOG
|
Health Risk |
Likely pathogenic |
Brachydactyly type B2, NOG-related disorder |
| RS121908950 |
PAPSS2
|
Health Risk |
Pathogenic |
Spondyloepimetaphyseal dysplasia, PAPSS2 type |
| RS121908951 |
PAPSS2
|
Health Risk |
Pathogenic |
Spondyloepimetaphyseal dysplasia, PAPSS2 type |
| RS121908952 |
PAPSS2
|
Health Risk |
Pathogenic |
Spondyloepimetaphyseal dysplasia, PAPSS2 type |
| RS121908953 |
DYSF
|
Health Risk |
Pathogenic |
Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS121908955 |
DYSF
|
Health Risk |
Pathogenic |
Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS121908956 |
DYSF
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS121908957 |
DYSF
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS121908958 |
DYSF
|
Health Risk |
Pathogenic |
Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS121908959 |
DYSF
|
Health Risk |
Pathogenic |
Distal myopathy with anterior tibial onset, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS121908960 |
DYSF
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS121908961 |
DYSF
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS121908962 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS121908963 |
DYSF
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS121908965 |
MYO15A
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Nonsyndromic genetic hearing loss |
| RS121908966 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS121908967 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS121908968 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS121908969 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS121908971 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS121908972 |
MYO15A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS121908973 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS121908974 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS121908975 |
SLC37A4
|
Health Risk |
Pathogenic |
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS121908976 |
SLC37A4
|
Health Risk |
Pathogenic |
Phosphate transport defect, Glucose-6-phosphate transport defect |
| RS121908977 |
SLC37A4
|
Health Risk |
Likely pathogenic |
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS121908978 |
SLC37A4
|
Health Risk |
Pathogenic |
Glucose-6-phosphate transport defect, Phosphate transport defect |
| RS121908979 |
SLC37A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Glucose-6-phosphate transport defect, Phosphate transport defect |
| RS121908980 |
SLC37A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Glucose-6-phosphate transport defect, Phosphate transport defect |
| RS121908981 |
MAD1L1
|
Health Risk |
Pathogenic |
LYMPHOMA, DIFFUSE LARGE B-CELL |
| RS121908983 |
SDHD
|
Health Risk |
Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome |
| RS121908985 |
NDUFS4
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 1 |
| RS121908987 |
PRKAG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6 |
| RS121908988 |
PRKAG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6 |
| RS121908989 |
PRKAG2
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy 6 |
| RS121908990 |
PRKAG2
|
Health Risk |
Likely pathogenic |
Wolff-Parkinson-White syndrome, childhood-onset |
| RS121908991 |
PRKAG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy |
| RS121909005 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, ivacaftor response - Efficacy |
| RS121909006 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121909008 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121909009 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121909010 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121909011 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS121909012 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121909015 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121909016 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Obstructive azoospermia |
| RS121909017 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Hereditary pancreatitis |
| RS121909018 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121909019 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121909020 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, ivacaftor response - Efficacy |
| RS121909023 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121909025 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121909026 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121909031 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS121909033 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121909034 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121909036 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121909037 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121909040 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS121909042 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Hereditary pancreatitis |
| RS121909043 |
CFTR
|
Health Risk |
Likely pathogenic |
Sweat chloride elevation without cystic fibrosis, Cystic fibrosis |
| RS121909045 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121909046 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, CFTR-related disorder |
| RS121909047 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, CFTR-related disorder |
| RS121909048 |
HSF4
|
Health Risk |
Pathogenic |
Cataract 5 multiple types, Cataract 5 multiple types |
| RS121909049 |
HSF4
|
Health Risk |
Pathogenic |
Cataract 5 multiple types, Cataract 5 multiple types |
| RS121909050 |
HSF4
|
Health Risk |
Pathogenic |
Cataract 5 multiple types, Cataract 5 multiple types |
| RS121909051 |
SERPINI1
|
Health Risk |
Pathogenic |
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS121909052 |
SERPINI1
|
Health Risk |
Pathogenic |
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS121909053 |
SERPINI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial encephalopathy with neuroserpin inclusion bodies, Abnormality of the nervous system |
| RS121909054 |
SERPINI1
|
Health Risk |
Pathogenic |
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS121909055 |
BUB1
|
Health Risk |
Pathogenic |
Colorectal cancer with chromosomal instability, somatic |
| RS121909056 |
POU4F3
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS121909057 |
POU4F3
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS121909058 |
TECTA
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12 |
| RS121909059 |
TECTA
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12 |
| RS121909060 |
TECTA
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12 |
| RS121909061 |
TECTA
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12 |
| RS121909062 |
TECTA
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 12, Nonsyndromic genetic hearing loss |
| RS121909063 |
TECTA
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 12, Nonsyndromic genetic hearing loss |
| RS121909066 |
TGIF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Holoprosencephaly 4, Holoprosencephaly 4 |
| RS121909067 |
TGIF1
|
Health Risk |
Pathogenic |
Holoprosencephaly 4, Holoprosencephaly 4 |
| RS121909070 |
TGIF1
|
Health Risk |
Pathogenic |
Holoprosencephaly 4, Holoprosencephaly 4 |
| RS121909071 |
SLC22A18
|
Health Risk |
Pathogenic |
Lung carcinoma, Lung carcinoma |
| RS121909072 |
TNFSF11
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS121909073 |
TULP1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 14, Retinitis pigmentosa 14 |
| RS121909074 |
TEAD3;TULP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 14, Retinal dystrophy |
| RS121909075 |
TULP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 14, Leber congenital amaurosis |
| RS121909076 |
TULP1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 14, Retinitis pigmentosa |
| RS121909077 |
TULP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 14, Leber congenital amaurosis |
| RS121909078 |
RAB7A
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease |
| RS121909079 |
RAB7A
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease |
| RS121909080 |
RAB7A
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease |
| RS121909081 |
RAB7A
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease |