| RS587780436 |
RELN
|
Health Risk |
Pathogenic |
Norman-Roberts syndrome, Norman-Roberts syndrome |
| RS587780437 |
RELN
|
Health Risk |
Pathogenic |
Norman-Roberts syndrome, Norman-Roberts syndrome |
| RS587780438 |
RELN
|
Health Risk |
Conflicting classifications of pathogenicity |
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 |
| RS587780439 |
RELN
|
Health Risk |
Conflicting classifications of pathogenicity |
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 |
| RS587780440 |
RFX6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
| RS587780441 |
RNF170
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant sensory ataxia 1, Autosomal dominant sensory ataxia 1 |
| RS587780445 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Early-infantile DEE |
| RS587780448 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS587780450 |
SCN2A
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS587780453 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS587780454 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 13 |
| RS587780455 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Seizures, benign familial infantile |
| RS587780457 |
SEPSECS
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587780462 |
SLC29A3
|
Health Risk |
Pathogenic/Likely pathogenic |
H syndrome, H syndrome |
| RS587780463 |
SLC29A3
|
Health Risk |
Pathogenic |
H syndrome, H syndrome |
| RS587780469 |
SYNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive ataxia, Beauce type |
| RS587780470 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS587780474 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS587780484 |
TRAPPC9
|
Health Risk |
Conflicting classifications of pathogenicity |
TRAPPC9-related disorder, TRAPPC9-related disorder |
| RS587780485 |
TRAPPC9
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587780486 |
TRAPPC9
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 13 |
| RS587780487 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS587780488 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS587780489 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS587780490 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS587780491 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy |
| RS587780494 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Tibial muscular dystrophy, Cardiovascular phenotype |
| RS587780495 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Tibial muscular dystrophy, Tibial muscular dystrophy |
| RS587780537 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS587780538 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587780542 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587780545 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587780548 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS587780549 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587780558 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS587780559 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780562 |
NAA10
|
Health Risk |
Pathogenic |
Ogden syndrome, Ogden syndrome |
| RS587780563 |
NAA10
|
Health Risk |
Pathogenic/Likely pathogenic |
Ogden syndrome, NAA10-related disorder |
| RS587780564 |
DYNC1H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Hereditary motor and sensory neuropathy |
| RS587780565 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780566 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780567 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780568 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780569 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780570 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, UBE3A-related disorder |
| RS587780571 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780572 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780573 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780574 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780575 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780576 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780577 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780578 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780579 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780580 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780581 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780582 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780583 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780584 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780585 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587780586 |
SCN8A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS587780587 |
DGUOK
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| RS587780588 |
COL4A1
|
Health Risk |
Pathogenic |
Cerebral calcification, Intracranial hemorrhage |
| RS587780592 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587780593 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587780597 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587780600 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587780606 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587780610 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587780611 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS587780612 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780614 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780621 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780624 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780625 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780628 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780629 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780630 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780631 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780632 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780634 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780636 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780638 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780639 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780640 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780641 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587780645 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS587780646 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587780649 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587780652 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587780653 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS587780655 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587780657 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587780668 |
CDKN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Melanoma, cutaneous malignant |
| RS587780670 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS587780671 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780673 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780677 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780679 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780681 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |