| RS2073023723 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2073024407 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2073024441 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2073025173 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2073025198 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2073025642 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2073026512 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073027596 |
LMF1
|
Health Risk |
Likely pathogenic |
— |
| RS2073027912 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073029506 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073029867 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073030045 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073030462 |
F8
|
Health Risk |
Likely pathogenic |
Abnormal bleeding, Thrombocytopenia |
| RS2073039685 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073040056 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2073040366 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2073041280 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2073041452 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2073044253 |
KDM5C
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS2073048863 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2073049380 |
SMCHD1
|
Health Risk |
Pathogenic |
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2073049381 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2073051761 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2073051840 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2073052786 |
SMCHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS2073053849 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2073055112 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Gastric cancer |
| RS2073058023 |
KDM5C
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS2073061878 |
DNM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS2073064247 |
SLITRK2
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, Intellectual developmental disorder |
| RS2073068605 |
SLITRK2
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual developmental disorder, X-linked 111 |
| RS2073092234 |
AGO2
|
Health Risk |
Pathogenic |
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2073092496 |
AGO2
|
Health Risk |
Pathogenic |
Lessel-Kreienkamp syndrome, Inborn genetic diseases |
| RS2073096212 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2073098775 |
DNM2
|
Health Risk |
Likely pathogenic |
Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B |
| RS2073116488 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073117347 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype |
| RS2073125384 |
DSG2
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073148989 |
DSG2
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073149039 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073149649 |
DSG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073149675 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073150409 |
KDM5C
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS2073151214 |
KDM5C
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS2073154382 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073160651 |
TP53
|
Health Risk |
Pathogenic |
— |
| RS2073161466 |
SIN3A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2073171970 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2073172888 |
F8
|
Health Risk |
Uncertain significance; risk factor |
Cerebral palsy, Hereditary factor VIII deficiency disease |
| RS2073173294 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073173387 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073173418 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073177296 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073177507 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073179658 |
AGO2
|
Health Risk |
Pathogenic |
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2073180302 |
AGO2
|
Health Risk |
Pathogenic |
Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome |
| RS2073181505 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073181877 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073181967 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073182544 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073183197 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073186772 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073187136 |
TP53
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2073188904 |
TP53
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2073189135 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073193503 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073195449 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073203788 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073222422 |
DSG2
|
Health Risk |
Likely pathogenic |
Intellectual disability, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073243450 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073249488 |
DNM2
|
Health Risk |
Likely pathogenic |
Moyamoya angiopathy, Moyamoya angiopathy |
| RS2073251813 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073256180 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073256828 |
TP53
|
Health Risk |
Pathogenic |
Acute myeloid leukemia, Acute myeloid leukemia |
| RS2073260066 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073264462 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073264695 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073265410 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype |
| RS2073266408 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1 |
| RS2073267220 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS2073269361 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS2073271481 |
SIN3A
|
Health Risk |
Pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2073273656 |
SIN3A
|
Health Risk |
Likely pathogenic |
— |
| RS2073276598 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiomyopathy |
| RS2073285852 |
DNM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS2073290478 |
SDCCAG8
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16 |
| RS2073300346 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073302769 |
SIN3A
|
Health Risk |
Likely pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2073303724 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Tibial muscular dystrophy, Dilated cardiomyopathy 1G |
| RS2073306650 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive titinopathy, Autosomal recessive titinopathy |
| RS2073308127 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073310848 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 |
| RS2073313787 |
F8
|
Health Risk |
Conflicting classifications of pathogenicity |
F8-related disorder, F8-related disorder |
| RS2073313804 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073313892 |
F8
|
Health Risk |
Likely pathogenic |
— |
| RS2073314495 |
F8
|
Health Risk |
Pathogenic |
— |
| RS2073315379 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2073318029 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer |
| RS2073324574 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2073327702 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Li-Fraumeni syndrome |