| RS1553319290 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319296 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319298 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319317 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319318 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319327 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319524 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319526 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319532 |
SPAST
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319534 |
SPAST
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319537 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 4, Spastic paraplegia |
| RS1553319548 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553319874 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553320397 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Usher syndrome type 2A |
| RS1553320451 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS1553320542 |
USH2A
|
Health Risk |
Pathogenic |
Usher syndrome type 2A, Usher syndrome type 2A |
| RS1553321194 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553321196 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553321232 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553321237 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553321245 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1553321261 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553321269 |
SPAST
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553321270 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1553322031 |
HADHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 1 |
| RS1553322494 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS1553322497 |
IFT172
|
Health Risk |
Likely pathogenic |
— |
| RS1553322501 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1553323033 |
SRD5A2
|
Health Risk |
Pathogenic |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553323036 |
SRD5A2
|
Health Risk |
Likely pathogenic |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553323072 |
HADHB
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1553323488 |
SRD5A2
|
Health Risk |
Likely pathogenic |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553323690 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia |
| RS1553324416 |
MYT1L
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 39 |
| RS1553324519 |
WDR35
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 7 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly |
| RS1553324762 |
MYT1L
|
Health Risk |
Pathogenic |
— |
| RS1553325275 |
ASPM
|
Health Risk |
Likely pathogenic |
— |
| RS1553326322 |
TRAPPC12
|
Health Risk |
Pathogenic |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS1553326645 |
ASPM
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553326840 |
ASPM
|
Health Risk |
Pathogenic |
— |
| RS1553327452 |
USH2A
|
Health Risk |
Pathogenic |
Usher syndrome, Usher syndrome |
| RS1553327470 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS1553327809 |
SOX11
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1553327863 |
SOX11
|
Health Risk |
Likely pathogenic |
— |
| RS1553327954 |
SOX11
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1553327990 |
SOX11
|
Health Risk |
Likely pathogenic |
— |
| RS1553328038 |
SOX11
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS1553328057 |
SOX11
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553328170 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1553329427 |
SRD5A2
|
Health Risk |
Pathogenic |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553329443 |
SRD5A2
|
Health Risk |
Pathogenic |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553329745 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS1553329804 |
ADCY3
|
Health Risk |
risk factor |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 |
| RS1553331228 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553331242 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553331290 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553331304 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553331337 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553331366 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553331378 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553331415 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553331434 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS1553331454 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553331510 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553331600 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553331659 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553331665 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553331676 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS1553331722 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553331742 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553331760 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS1553332151 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553332166 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1553332228 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS1553332297 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer |
| RS1553332312 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553332598 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553332622 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553332639 |
MSH6
|
Health Risk |
Pathogenic |
— |
| RS1553332671 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer |
| RS1553332733 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553332768 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553332772 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553332776 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553332959 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553332996 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553333017 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553333031 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1553333039 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1553333072 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553333078 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553333093 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS1553333127 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553333164 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553333167 |
ADCY3
|
Health Risk |
risk factor |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 |
| RS1553333168 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553333175 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553333185 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553333276 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553333301 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |