| RS1064794260 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS1064794261 |
CACNA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 42 |
| RS1064794262 |
CACNA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Epileptic encephalopathy, Bulbar palsy |
| RS1064794263 |
CACNA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS1064794264 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1064794265 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS1064794266 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS1064794267 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1064794268 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 2, Monogenic diabetes |
| RS1064794269 |
SDHB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1064794270 |
SDHB
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Pheochromocytoma |
| RS1064794271 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS1064794272 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1064794273 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1064794274 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1064794275 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1064794276 |
NF1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Neurofibromatosis |
| RS1064794277 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1064794278 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1064794279 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1064794280 |
PRKAR1A
|
Health Risk |
Pathogenic |
— |
| RS1064794281 |
NR5A1
|
Health Risk |
Likely pathogenic |
— |
| RS1064794282 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1064794283 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1064794284 |
SMARCA4
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS1064794285 |
BTK
|
Health Risk |
Likely pathogenic |
— |
| RS1064794286 |
ABCA12
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1064794287 |
ACTA1
|
Health Risk |
Pathogenic |
Actin accumulation myopathy, Congenital myopathy 2c |
| RS1064794288 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS1064794290 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS1064794291 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |
| RS1064794292 |
CDKN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS1064794293 |
COMP
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1064794294 |
COMP
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1064794295 |
GALT
|
Health Risk |
Pathogenic |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1064794297 |
ITGB2
|
Health Risk |
Likely pathogenic |
— |
| RS1064794298 |
ITGB2
|
Health Risk |
Likely pathogenic |
— |
| RS1064794299 |
NCF2
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS1064794302 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Endometrial carcinoma |
| RS1064794303 |
PHEX
|
Health Risk |
Pathogenic |
— |
| RS1064794305 |
PHEX
|
Health Risk |
Pathogenic |
— |
| RS1064794306 |
PHEX
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1064794308 |
SIX1
|
Health Risk |
Likely pathogenic |
Branchiootic syndrome 3, Branchiootic syndrome 3 |
| RS1064794309 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS1064794311 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS1064794312 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS1064794313 |
RYR1
|
Health Risk |
Likely pathogenic |
RYR1-related disorder, RYR1-related myopathy |
| RS1064794314 |
TUBB2B
|
Health Risk |
Likely pathogenic |
— |
| RS1064794315 |
MFN2
|
Health Risk |
Pathogenic |
— |
| RS1064794316 |
MFN2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1064794317 |
PANK2
|
Health Risk |
Pathogenic/Likely pathogenic |
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1064794318 |
TSHR
|
Health Risk |
Likely pathogenic |
TSHR-related disorder, Familial gestational hyperthyroidism |
| RS1064794320 |
PEX16
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8B |
| RS1064794321 |
SGCE
|
Health Risk |
Pathogenic/Likely pathogenic |
Myoclonic dystonia 11, Myoclonus-dystonia syndrome |
| RS1064794322 |
STXBP1
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1064794323 |
CLCN7
|
Health Risk |
Likely pathogenic |
Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2 |
| RS1064794324 |
ADAR
|
Health Risk |
Pathogenic |
— |
| RS1064794325 |
ERF
|
Health Risk |
Pathogenic/Likely pathogenic |
Lambdoidal craniosynostosis, Neurodevelopmental disorder |
| RS1064794327 |
CHRNA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS1064794328 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1064794330 |
ANKRD11
|
Health Risk |
Pathogenic |
KBG syndrome, KBG syndrome |
| RS1064794331 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1064794332 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1064794334 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Salla disease |
| RS1064794337 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1064794340 |
IKBKG
|
Health Risk |
Pathogenic |
— |
| RS1064794342 |
CNGB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 45, CNGB1-related retinopathy |
| RS1064794347 |
CEP83
|
Health Risk |
Pathogenic |
Nephronophthisis 18, Nephronophthisis 18 |
| RS1064794348 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1064794350 |
PKP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9 |
| RS1064794353 |
MLH1
|
Health Risk |
Pathogenic |
— |
| RS1064794363 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1064794372 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
| RS1064794373 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1064794374 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1064794375 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS1064794377 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1064794384 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1064794385 |
CLCN4
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1064794388 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1064794403 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1064794419 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1064794421 |
STAT3
|
Health Risk |
Likely pathogenic |
— |
| RS1064794422 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1064794424 |
SCN5A
|
Health Risk |
Likely pathogenic |
Brugada syndrome, Brugada syndrome |
| RS1064794436 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS1064794437 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1064794438 |
CHD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1064794452 |
PNKP
|
Health Risk |
Likely pathogenic |
— |
| RS1064794459 |
NR2F1
|
Health Risk |
Likely pathogenic |
— |
| RS1064794461 |
NEB
|
Health Risk |
Likely pathogenic |
— |
| RS1064794463 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS1064794465 |
ALG11
|
Health Risk |
Conflicting classifications of pathogenicity |
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS1064794467 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1064794468 |
ATM
|
Health Risk |
Likely pathogenic |
— |
| RS1064794470 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1064794471 |
MYBPC3
|
Health Risk |
Likely pathogenic |
— |
| RS1064794472 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1064794474 |
TCOF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS1064794482 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, X-linked |