| RS2136525334 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2136525978 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136526175 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136526235 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136526244 |
COL2A1
|
Health Risk |
Likely pathogenic |
Achondrogenesis type II, Achondrogenesis type II |
| RS2136526413 |
COL2A1
|
Health Risk |
Likely pathogenic |
Connective tissue disorder, Connective tissue disorder |
| RS2136526506 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136526515 |
COL2A1
|
Health Risk |
Pathogenic |
Achondrogenesis type II, Achondrogenesis type II |
| RS2136526580 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136526614 |
COL2A1
|
Health Risk |
Likely pathogenic |
Achondrogenesis type II, Achondrogenesis type II |
| RS2136527926 |
COL2A1
|
Health Risk |
Pathogenic |
16 conditions, 16 conditions |
| RS2136528309 |
COL2A1
|
Health Risk |
Likely pathogenic |
Platyspondylic dysplasia, Torrance type |
| RS2136528419 |
COL2A1
|
Health Risk |
Likely pathogenic |
Stickler syndrome type 1, Avascular necrosis of femoral head |
| RS2136528442 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136528491 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136528535 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136528572 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136532206 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136532405 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136532474 |
COL2A1
|
Health Risk |
Likely pathogenic |
Connective tissue disorder, Connective tissue disorder |
| RS2136535158 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136537220 |
COL2A1
|
Health Risk |
Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136537462 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136537559 |
COL2A1
|
Health Risk |
Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136537698 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136537746 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136537795 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136538046 |
COL2A1
|
Health Risk |
Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136539832 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136539854 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136539942 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136541965 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136542141 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136542198 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136544532 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136544686 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136544726 |
COL2A1
|
Health Risk |
Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136546348 |
CEP290
|
Health Risk |
Pathogenic |
Meckel-Gruber syndrome, Nephronophthisis |
| RS2136546576 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Joubert syndrome |
| RS2136546628 |
COL2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2136546742 |
COL2A1
|
Health Risk |
Likely pathogenic |
Connective tissue disorder, Connective tissue disorder |
| RS2136546785 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136547054 |
CEP290
|
Health Risk |
Pathogenic |
Meckel-Gruber syndrome, Nephronophthisis |
| RS2136547201 |
CEP290
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2136547710 |
CEP290
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2136548888 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136548974 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2136548994 |
COL2A1
|
Health Risk |
Pathogenic |
Type 2 collagenopathy, Type 2 collagenopathy |
| RS2136549071 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136549103 |
COL2A1
|
Health Risk |
Pathogenic |
Connective tissue disorder, Connective tissue disorder |
| RS2136549115 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136551055 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136551308 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136551414 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136551433 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136551606 |
COL2A1
|
Health Risk |
Likely pathogenic |
COL2A1-related disorder, Achondrogenesis type II |
| RS2136551691 |
COL2A1
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita |
| RS2136552560 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136552575 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2136552735 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136552948 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136552988 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136554860 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136554879 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136555011 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136555019 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136555161 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136555177 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Spondyloepimetaphyseal dysplasia, Strudwick type |
| RS2136555221 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
COL2A1-related disorder, Inborn genetic diseases |
| RS2136556600 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
COL2A1-related disorder, COL2A1-related disorder |
| RS2136556852 |
COL2A1
|
Health Risk |
Likely pathogenic |
Maffucci syndrome, Maffucci syndrome |
| RS2136556938 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136558900 |
COL2A1
|
Health Risk |
Likely pathogenic |
Kniest dysplasia, Kniest dysplasia |
| RS2136559202 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136561510 |
COL2A1
|
Health Risk |
Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136563934 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136564137 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136564183 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136564199 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Spondyloepiphyseal dysplasia congenita, Spondyloepimetaphyseal dysplasia |
| RS2136564288 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136564400 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136566494 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136566565 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136566584 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136566722 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136567546 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Kniest dysplasia, Kniest dysplasia |
| RS2136567630 |
COL2A1
|
Health Risk |
Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136567637 |
COL2A1
|
Health Risk |
Likely pathogenic |
Connective tissue disorder, Connective tissue disorder |
| RS2136567791 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2136567807 |
COL2A1
|
Health Risk |
Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136567996 |
COL2A1
|
Health Risk |
Likely pathogenic |
15 conditions, 15 conditions |
| RS2136568493 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2136568573 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136568585 |
COL2A1
|
Health Risk |
Likely pathogenic |
6 conditions, 6 conditions |
| RS2136570708 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2136570754 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136570799 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136571005 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136571080 |
COL2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Stickler syndrome type 1, Stickler syndrome type 1 |
| RS2136571245 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |