| RS1589237447 |
WAC
|
Health Risk |
Pathogenic |
— |
| RS1589245442 |
COL13A1
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS1589247025 |
WAC
|
Health Risk |
Pathogenic |
DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS1589257502 |
ANKRD26
|
Health Risk |
Likely pathogenic |
Thrombocytopenia 2, Thrombocytopenia 2 |
| RS1589286482 |
ADK
|
Health Risk |
Likely pathogenic |
Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS1589288524 |
BMPR1A
|
Health Risk |
Likely pathogenic |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1589290773 |
BMPR1A
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1589290779 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1589290813 |
BMPR1A
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1589291527 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1589291548 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1589291774 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1589292553 |
BMPR1A
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1589292655 |
BMPR1A
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1589292746 |
BMPR1A
|
Health Risk |
Likely pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1589292855 |
CDH23
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS1589293414 |
BMPR1A
|
Health Risk |
Likely pathogenic |
— |
| RS1589293533 |
BMPR1A
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1589293539 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1589296004 |
SPTAN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 5 |
| RS1589306127 |
CDHR1
|
Health Risk |
Pathogenic |
Cone-rod dystrophy, Cone-rod dystrophy |
| RS1589307705 |
CDHR1
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 15, Cone-rod dystrophy 15 |
| RS1589310432 |
POLR3A
|
Health Risk |
Pathogenic |
Leukodystrophy, hypomyelinating |
| RS1589311413 |
SPTAN1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 5 |
| RS1589313739 |
CDHR1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1589326484 |
RPS24
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1589328276 |
RPS24
|
Health Risk |
Conflicting classifications of pathogenicity |
Diamond-Blackfan anemia, Diamond-Blackfan anemia 3 |
| RS1589337745 |
RGR
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1589344004 |
CDH23
|
Health Risk |
Pathogenic/Likely pathogenic |
Pituitary adenoma 5, multiple types |
| RS1589384283 |
CDH23
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D |
| RS1589384720 |
CDH23
|
Health Risk |
Likely pathogenic |
— |
| RS1589387419 |
ADK
|
Health Risk |
Pathogenic/Likely pathogenic |
Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS1589388907 |
ACTA2
|
Health Risk |
Likely pathogenic |
— |
| RS1589389281 |
SPTAN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, Neuronopathy |
| RS1589391313 |
CFAP70
|
Health Risk |
Pathogenic |
Spermatogenic failure 41, Spermatogenic failure 41 |
| RS1589393179 |
SPTAN1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 5 |
| RS1589393382 |
SPTAN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Early-infantile DEE |
| RS1589393739 |
ANKRD26
|
Health Risk |
Conflicting classifications of pathogenicity |
Thrombocytopenia, Thrombocytopenia 2 |
| RS1589393759 |
ANKRD26
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombocytopenia, Thrombocytopenia 2 |
| RS1589393785 |
ANKRD26
|
Health Risk |
Conflicting classifications of pathogenicity |
Thrombocytopenia 2, Thrombocytopenia 2 |
| RS1589393792 |
ANKRD26
|
Health Risk |
Pathogenic |
Thrombocytopenia, Thrombocytopenia 2 |
| RS1589393799 |
ANKRD26
|
Health Risk |
Likely pathogenic |
Thrombocytopenia, Thrombocytopenia 2 |
| RS1589393809 |
ANKRD26
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombocytopenia, Thrombocytopenia 2 |
| RS1589394154 |
ACTA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic aneurysm, familial thoracic 6 |
| RS1589413498 |
PLCE1
|
Health Risk |
Pathogenic |
Nephrotic syndrome, type 3 |
| RS1589416130 |
SPTAN1
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1589420011 |
CDH23
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1589424694 |
CDH23
|
Health Risk |
Pathogenic/Likely pathogenic |
Pituitary adenoma 5, multiple types |
| RS1589433172 |
PLCE1
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, type 3 |
| RS1589438942 |
CDH23
|
Health Risk |
Likely pathogenic |
— |
| RS1589439508 |
HK1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency |
| RS1589440982 |
NTNG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder with behavioral abnormalities |
| RS1589441229 |
NTNG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder with behavioral abnormalities |
| RS1589441428 |
NTNG2
|
Health Risk |
Pathogenic |
Stereotypical hand wringing, Areflexia |
| RS1589446748 |
PSAP
|
Health Risk |
Likely pathogenic |
Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency |
| RS1589448124 |
PSAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency |
| RS1589451049 |
PSAP
|
Health Risk |
Pathogenic |
Sphingolipid activator protein 1 deficiency, Parkinson disease 24 |
| RS1589451050 |
PSAP
|
Health Risk |
Pathogenic |
Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency |
| RS1589457762 |
SET
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 58 |
| RS1589458772 |
SET
|
Health Risk |
Pathogenic |
— |
| RS1589460606 |
SET
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 58 |
| RS1589465172 |
FAS
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589465256 |
FAS
|
Health Risk |
Likely pathogenic |
— |
| RS1589475328 |
PLCE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephrotic syndrome, type 3 |
| RS1589478691 |
FAS
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589480590 |
MAT1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency |
| RS1589482683 |
FAS
|
Health Risk |
Likely pathogenic |
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589483932 |
PCBD1
|
Health Risk |
Pathogenic |
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS1589485636 |
FAS
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589488463 |
FAS
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589488494 |
FAS
|
Health Risk |
Pathogenic/Likely pathogenic |
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589488640 |
FAS
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1 |
| RS1589491089 |
FAS
|
Health Risk |
Pathogenic |
— |
| RS1589509307 |
CHST3
|
Health Risk |
Likely pathogenic |
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1589509476 |
PLCE1
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, type 3 |
| RS1589509884 |
CHST3
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS1589510055 |
CHST3
|
Health Risk |
Pathogenic |
Larsen syndrome, Larsen syndrome |
| RS1589534728 |
ALDH18A1
|
Health Risk |
Likely pathogenic |
— |
| RS1589548972 |
LIPA
|
Health Risk |
Conflicting classifications of pathogenicity |
Lysosomal acid lipase deficiency, Wolman disease |
| RS1589553174 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS1589556901 |
LIPA
|
Health Risk |
Conflicting classifications of pathogenicity |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS1589558062 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS1589558169 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Cholesteryl ester storage disease |
| RS1589558218 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS1589558414 |
LIPA
|
Health Risk |
Pathogenic/Likely pathogenic |
Lysosomal acid lipase deficiency, Wolman disease |
| RS1589562891 |
COL17A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa, junctional 4 |
| RS1589567772 |
COL17A1
|
Health Risk |
Likely pathogenic |
— |
| RS1589568476 |
NTNG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder with behavioral abnormalities |
| RS1589572214 |
COL17A1
|
Health Risk |
Pathogenic |
Junctional epidermolysis bullosa, non-Herlitz type |
| RS1589576879 |
NTNG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder with behavioral abnormalities |
| RS1589579476 |
ZMIZ1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder |
| RS1589579500 |
ZMIZ1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder |
| RS1589590737 |
KIF11
|
Health Risk |
Pathogenic/Likely pathogenic |
Syndromic retinitis pigmentosa, Microcephaly with or without chorioretinopathy |
| RS1589590917 |
ZMIZ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder |
| RS1589591659 |
KIF11
|
Health Risk |
Pathogenic |
Microcephaly with or without chorioretinopathy, lymphedema |
| RS1589595589 |
KIF11
|
Health Risk |
Pathogenic |
Microcephaly with or without chorioretinopathy, lymphedema |
| RS1589596143 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS1589596407 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS1589596415 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Neoplasm |
| RS1589597598 |
KIF11
|
Health Risk |
Conflicting classifications of pathogenicity |
CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder |