| RS864622122 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622124 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622126 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622128 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS864622129 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622132 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622134 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622138 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Breast-ovarian cancer |
| RS864622142 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS864622143 |
NBN
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS864622145 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622149 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622153 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622154 |
MRE11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS864622161 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS864622162 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia |
| RS864622163 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS864622164 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622166 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS864622169 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622171 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS864622172 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622174 |
KCNH2
|
Health Risk |
Likely pathogenic |
Long QT syndrome, Long QT syndrome 2 |
| RS864622179 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia |
| RS864622180 |
PMP22
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease, type I |
| RS864622182 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622183 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622185 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622187 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS864622188 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS864622192 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622193 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622194 |
PLP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 2, Inborn genetic diseases |
| RS864622195 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS864622197 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS864622198 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS864622200 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622204 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS864622210 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622212 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS864622215 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS864622218 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS864622219 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS864622220 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622223 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622224 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS864622228 |
APC
|
Health Risk |
Pathogenic |
Desmoid disease, hereditary |
| RS864622233 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622236 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622237 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS864622239 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622244 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622249 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622250 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS864622251 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622252 |
SMAD4
|
Health Risk |
Likely pathogenic |
Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome |
| RS864622253 |
NBN
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS864622257 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS864622258 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622261 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS864622263 |
CDKN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS864622266 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622267 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS864622268 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS864622269 |
ATL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 3A, Inborn genetic diseases |
| RS864622272 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622273 |
EGR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease, type I |
| RS864622277 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS864622278 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS864622280 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS864622281 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS864622283 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Ovarian cancer |
| RS864622289 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome |
| RS864622290 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622291 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622292 |
KCNJ2
|
Health Risk |
Likely pathogenic |
Andersen Tawil syndrome, Short QT syndrome type 3 |
| RS864622293 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS864622294 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622295 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS864622300 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622301 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622303 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS864622309 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Cardiovascular phenotype |
| RS864622314 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS864622317 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS864622318 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622324 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622326 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622330 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622333 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS864622334 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS864622336 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622340 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622341 |
PTEN
|
Health Risk |
Likely pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS864622343 |
RAD51C
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS864622347 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS864622350 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622352 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622354 |
RAD50
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS864622357 |
DYNC2H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 |