| RS1555420917 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555420936 |
KNL1
|
Health Risk |
Likely pathogenic |
— |
| RS1555421263 |
CAPN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555421269 |
KNL1
|
Health Risk |
Likely pathogenic |
— |
| RS1555421271 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555421280 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421293 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421523 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555421524 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421532 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy |
| RS1555421544 |
RORA
|
Health Risk |
Pathogenic |
— |
| RS1555421842 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421847 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421854 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555421856 |
CAPN3
|
Health Risk |
Pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS1555421871 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Lower-limb joint contracture |
| RS1555422111 |
CAPN3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555422136 |
CAPN3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555422145 |
CAPN3
|
Health Risk |
Pathogenic |
— |
| RS1555422232 |
OCA2
|
Health Risk |
Pathogenic |
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS1555422293 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555422298 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555422449 |
PCCA
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1555422832 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555422839 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555422847 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555422851 |
CAPN3
|
Health Risk |
Likely pathogenic |
— |
| RS1555422856 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555422946 |
CCDC88C
|
Health Risk |
Likely pathogenic |
Hydrocephalus, nonsyndromic |
| RS1555422954 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555423015 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555423021 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555423027 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555423046 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555423060 |
CAPN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy, limb-girdle |
| RS1555423062 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555423119 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555423120 |
KIF7
|
Health Risk |
Likely pathogenic |
— |
| RS1555423146 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555423165 |
KIF7
|
Health Risk |
Pathogenic |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS1555423217 |
CAPN3
|
Health Risk |
Pathogenic |
Myositis, eosinophilic |
| RS1555423219 |
CAPN3
|
Health Risk |
Pathogenic |
— |
| RS1555423222 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555423426 |
CAPN3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555423753 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555423812 |
RORA
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS1555423941 |
VPS13C
|
Health Risk |
Likely pathogenic |
Young-onset Parkinson disease, Young-onset Parkinson disease |
| RS1555424166 |
TRPM1
|
Health Risk |
Likely pathogenic |
Congenital stationary night blindness, Congenital stationary night blindness |
| RS1555424298 |
BLM
|
Health Risk |
Likely pathogenic |
— |
| RS1555424305 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555424311 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555424368 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555424372 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555424376 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555424505 |
KIF7
|
Health Risk |
Pathogenic |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS1555424684 |
KIF7
|
Health Risk |
Pathogenic |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS1555424849 |
TRPM1
|
Health Risk |
Likely pathogenic |
Congenital stationary night blindness, Congenital stationary night blindness |
| RS1555424890 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555425036 |
KIF7
|
Health Risk |
Likely pathogenic |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS1555425062 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555425063 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555425074 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555425080 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555425572 |
PCCA
|
Health Risk |
Pathogenic |
— |
| RS1555425626 |
PCCA
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1555427497 |
RORA
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS1555427498 |
RORA
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS1555429623 |
RAD51
|
Health Risk |
Pathogenic |
Mirror movements 2, Mirror movements 2 |
| RS1555429629 |
RAD51
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group R, Fanconi anemia complementation group R |
| RS1555429670 |
RAD51
|
Health Risk |
Likely pathogenic |
— |
| RS1555434208 |
IGF1R
|
Health Risk |
Likely pathogenic |
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1555434555 |
ALPK3
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Cardiomyopathy |
| RS1555435405 |
ALPK3
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1555435531 |
ALPK3
|
Health Risk |
Pathogenic |
Cardiomyopathy, familial hypertrophic 27 |
| RS1555436118 |
ALPK3
|
Health Risk |
Pathogenic |
Cardiomyopathy, familial hypertrophic 27 |
| RS1555437424 |
CHD2
|
Health Risk |
Pathogenic |
Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes |
| RS1555437851 |
CHD2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1555438212 |
CLN6
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS1555438229 |
CLN6
|
Health Risk |
Likely pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS1555438234 |
CLN6
|
Health Risk |
Likely pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS1555438255 |
CLN6
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1555438411 |
CLN6
|
Health Risk |
Likely pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS1555438443 |
CLN6
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS1555438614 |
CLN6
|
Health Risk |
Likely pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS1555438624 |
TSC2
|
Health Risk |
Likely pathogenic |
— |
| RS1555439013 |
MESP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
| RS1555439036 |
CHD2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1555439049 |
MESP2
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
| RS1555439061 |
MESP2
|
Health Risk |
Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
| RS1555439063 |
MESP2
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
| RS1555439118 |
MESP2
|
Health Risk |
Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
| RS1555439152 |
MESP2
|
Health Risk |
Likely pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
| RS1555439541 |
NPRL3
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS1555439545 |
CHD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1555439557 |
CHD2
|
Health Risk |
Pathogenic |
— |
| RS1555439650 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS1555439714 |
CHD2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1555439719 |
CHD2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1555439753 |
TSC2
|
Health Risk |
Pathogenic |
— |
| RS1555439847 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |