| RS1555152796 |
ACVRL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Telangiectasia, hereditary hemorrhagic |
| RS1555152815 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555152899 |
ACVRL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Telangiectasia |
| RS1555152909 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555152935 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555152955 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555152966 |
ACVRL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153077 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153126 |
ACVRL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153131 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153133 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153172 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153277 |
ACVRL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153354 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153382 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153796 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153828 |
ACVRL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153830 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153848 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555153854 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555154144 |
ACVRL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS1555154946 |
ARID2
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1555155026 |
ARID2
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1555155252 |
ARID2
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1555155263 |
ARID2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555155556 |
BORCS5
|
Health Risk |
Conflicting classifications of pathogenicity |
6 conditions, 6 conditions |
| RS1555156076 |
KRT5
|
Health Risk |
Likely pathogenic |
Epidermolysis bullosa simplex, Koebner type |
| RS1555156100 |
KRT5
|
Health Risk |
Likely pathogenic |
— |
| RS1555156480 |
KRT5
|
Health Risk |
Likely pathogenic |
KRT5-related disorder, KRT5-related disorder |
| RS1555156695 |
GYS2
|
Health Risk |
Pathogenic |
— |
| RS1555161495 |
C1S
|
Health Risk |
Pathogenic |
— |
| RS1555161899 |
C1S
|
Health Risk |
Pathogenic |
— |
| RS1555162230 |
ARID2
|
Health Risk |
Likely pathogenic |
— |
| RS1555162242 |
TUBA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS1555162288 |
TUBA1A
|
Health Risk |
Pathogenic |
Tubulinopathy, Tubulinopathy |
| RS1555162294 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS1555162299 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Tubulinopathy, Tubulinopathy |
| RS1555162301 |
TUBA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555162303 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Tubulinopathy |
| RS1555162307 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Tubulinopathy, Tubulinopathy |
| RS1555162323 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Tubulinopathy |
| RS1555162325 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS1555162327 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Tubulinopathy, Tubulinopathy |
| RS1555162330 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Tubulinopathy, Tubulinopathy |
| RS1555162335 |
TUBA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS1555162392 |
TUBA1A
|
Health Risk |
Likely pathogenic |
— |
| RS1555162407 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Tubulinopathy, Inborn genetic diseases |
| RS1555162456 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS1555162486 |
TUBA1A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Tubulinopathy |
| RS1555162495 |
TUBA1A
|
Health Risk |
Pathogenic |
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS1555162507 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly type 3, Lissencephaly type 3 |
| RS1555162536 |
TUBA1A
|
Health Risk |
Likely pathogenic |
Tubulinopathy, Tubulinopathy |
| RS1555162549 |
TUBA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Tubulinopathy, Lissencephaly due to TUBA1A mutation |
| RS1555162597 |
ACVR1B
|
Health Risk |
Pathogenic |
Carcinoma of pancreas, Carcinoma of pancreas |
| RS1555163022 |
C1S
|
Health Risk |
Pathogenic |
— |
| RS1555163115 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1555163124 |
MEN1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555163136 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555163591 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555163646 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555163780 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555163858 |
MEN1
|
Health Risk |
Likely pathogenic |
— |
| RS1555163883 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555164115 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555164184 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555164217 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS1555164232 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS1555164245 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1555164270 |
MEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555164305 |
MEN1
|
Health Risk |
Pathogenic |
— |
| RS1555164385 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS1555164430 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555164437 |
C1R
|
Health Risk |
Likely pathogenic |
— |
| RS1555164555 |
GNS
|
Health Risk |
Pathogenic |
— |
| RS1555164561 |
COL2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555164672 |
COL2A1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555164707 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555164735 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS1555164789 |
COL2A1
|
Health Risk |
Pathogenic |
COL2A1-related disorder, COL2A1-related disorder |
| RS1555164872 |
COL2A1
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita |
| RS1555164874 |
COL2A1
|
Health Risk |
Pathogenic |
COL2A1-related disorder, Stickler syndrome |
| RS1555164946 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555164986 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555165089 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1555165094 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555165110 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS1555165128 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1555165183 |
COL2A1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555165195 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS1555165204 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS1555165237 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS1555165242 |
COL2A1
|
Health Risk |
Likely pathogenic |
Achondrogenesis type II, Achondrogenesis type II |
| RS1555165245 |
COL2A1
|
Health Risk |
Likely pathogenic |
Achondrogenesis type II, Achondrogenesis type II |
| RS1555165256 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555165335 |
COL2A1
|
Health Risk |
Likely pathogenic |
Achondrogenesis type II, Inborn genetic diseases |
| RS1555165336 |
COL2A1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Achondrogenesis type II |
| RS1555165360 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555165377 |
MEN1
|
Health Risk |
Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555165485 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1555165488 |
MEN1
|
Health Risk |
Likely pathogenic |
Multiple endocrine neoplasia, type 1 |