| RS2152130983 |
CDH1
|
Health Risk |
Pathogenic |
Gastric cancer, Familial cancer of breast |
| RS2152130985 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152131075 |
CDH1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2152131090 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152131991 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152132015 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152132050 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152132067 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152132103 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152132139 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152132524 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2152132700 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2152133290 |
CDH1
|
Health Risk |
Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152133449 |
CDH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast |
| RS2152133477 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152133566 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152133567 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2152133642 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2152134662 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2152134665 |
CDH1
|
Health Risk |
Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152134667 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152134718 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152134724 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152134736 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152134773 |
CDH1
|
Health Risk |
Likely pathogenic |
Blepharocheilodontic syndrome 1, Blepharocheilodontic syndrome 1 |
| RS2152134893 |
CDH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2152134951 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2152135021 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, 6 conditions |
| RS2152136814 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2152136838 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152136857 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152136881 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152137001 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152137028 |
CDH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152138120 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Breast and/or ovarian cancer |
| RS2152138313 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2152138392 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152138436 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, CDH1-related disorder |
| RS2152138505 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152138523 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152138595 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152138630 |
CDH1
|
Health Risk |
Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hepatocellular carcinoma |
| RS2152138633 |
CDH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2152139412 |
CDH1
|
Health Risk |
Likely pathogenic |
— |
| RS2152139420 |
CDH1
|
Health Risk |
Pathogenic |
— |
| RS2152139440 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2152139452 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152139643 |
CDH1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2152139704 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152141385 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2152141391 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast |
| RS2152141393 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2152141412 |
CDH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2152141420 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152141461 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152141521 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152141559 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2152141561 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast |
| RS2152142199 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152142455 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome |
| RS2152143625 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2152143824 |
CDH1
|
Health Risk |
Pathogenic |
Malignant tumor of breast, Malignant tumor of breast |
| RS2152143935 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2152144040 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2152149706 |
AARS1
|
Health Risk |
Pathogenic |
Trichothiodystrophy 8, nonphotosensitive |
| RS2152153611 |
AARS1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 29 |
| RS2152154412 |
AARS1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 29 |
| RS2152156655 |
AARS1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 29 |
| RS2152160643 |
AARS1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2152160733 |
AARS1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2 |
| RS2152160758 |
AARS1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N |
| RS2152162709 |
ZIC2
|
Health Risk |
Pathogenic |
Holoprosencephaly 5, Holoprosencephaly 5 |
| RS2152162755 |
ZIC2
|
Health Risk |
Likely pathogenic |
— |
| RS2152162756 |
ZIC2
|
Health Risk |
Likely pathogenic |
Holoprosencephaly 5, Holoprosencephaly 5 |
| RS2152163363 |
AARS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2, Inborn genetic diseases |
| RS2152163567 |
ZIC2
|
Health Risk |
Pathogenic |
Holoprosencephaly 5, Holoprosencephaly 5 |
| RS2152163576 |
ZIC2
|
Health Risk |
Pathogenic |
Abnormality of the nervous system, Abnormality of the nervous system |
| RS2152163697 |
ZIC2
|
Health Risk |
Likely pathogenic |
Holoprosencephaly 5, Holoprosencephaly 5 |
| RS2152166694 |
AARS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy |
| RS2152166762 |
AARS1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2152166979 |
AARS1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 29 |
| RS2152178267 |
SH2B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency |
| RS2152196826 |
ATP2A1
|
Health Risk |
Pathogenic |
Brody myopathy, Brody myopathy |
| RS2152196866 |
ATP2A1
|
Health Risk |
Pathogenic |
Brody myopathy, Brody myopathy |
| RS2152204111 |
ATP2A1
|
Health Risk |
Likely pathogenic |
Brody myopathy, Brody myopathy |
| RS2152211980 |
ABCC6
|
Health Risk |
Pathogenic |
— |
| RS2152213646 |
ATP2A1
|
Health Risk |
Pathogenic |
Brody myopathy, Brody myopathy |
| RS2152215136 |
ATP2A1
|
Health Risk |
Likely pathogenic |
Brody myopathy, Brody myopathy |
| RS2152218824 |
ABCC6
|
Health Risk |
Pathogenic |
— |
| RS2152224232 |
ABCC6
|
Health Risk |
Likely pathogenic |
— |
| RS2152224246 |
ABCC6
|
Health Risk |
Pathogenic |
— |
| RS2152228184 |
CD19
|
Health Risk |
Pathogenic |
— |
| RS2152230798 |
CD19
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS2152235595 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Inborn genetic diseases |
| RS2152235635 |
ABCC6
|
Health Risk |
Pathogenic |
— |
| RS2152243320 |
ABCC6
|
Health Risk |
Pathogenic |
— |
| RS2152249910 |
ABCC6
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2152252393 |
ABCC6
|
Health Risk |
Pathogenic |
— |
| RS2152252501 |
TDRD9
|
Health Risk |
Pathogenic |
Azoospermia, Azoospermia |
| RS2152258579 |
ABCC6
|
Health Risk |
Likely pathogenic |
— |