| RS2136627628 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136628462 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136628922 |
GRIN2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 27 |
| RS2136629166 |
COL2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2136629179 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136629609 |
GRIN2B
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 27 |
| RS2136630846 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136631061 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136631967 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136632085 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136632164 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136632449 |
PTCH1
|
Health Risk |
Likely pathogenic |
Gorlin syndrome, Neoplasm |
| RS2136632458 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS2136634974 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136635468 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136635586 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136635740 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136635779 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136635839 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136635903 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136636327 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136636774 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136636832 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136637051 |
COL2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2136637204 |
CEP290
|
Health Risk |
Likely pathogenic |
Nephronophthisis, Joubert syndrome |
| RS2136637244 |
COL2A1
|
Health Risk |
Pathogenic |
Stickler syndrome, type I |
| RS2136637552 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136639639 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136639683 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136639687 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136646020 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136646052 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136646297 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136646301 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136646337 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136646367 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136646392 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136647071 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136647822 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136648640 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136648673 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136649043 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS2136649216 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136649225 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136649239 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136649242 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136649263 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136649533 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136649605 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136649680 |
PAH
|
Health Risk |
Conflicting classifications of pathogenicity |
Phenylketonuria, Phenylketonuria |
| RS2136649777 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136650202 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136652716 |
COL2A1
|
Health Risk |
Pathogenic |
— |
| RS2136652928 |
COL2A1
|
Health Risk |
Pathogenic |
15 conditions, 15 conditions |
| RS2136656497 |
CEP290
|
Health Risk |
Pathogenic |
Nephronophthisis, Joubert syndrome |
| RS2136659660 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136659817 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136659959 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136660921 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136660954 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136661064 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136661215 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136661234 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136661651 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS2136661686 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS2136661900 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136663420 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136663735 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2136664276 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136665852 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2136669781 |
PTCH1
|
Health Risk |
Likely pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136670613 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136672044 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136672063 |
PTCH1
|
Health Risk |
Likely pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136672811 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136673481 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Basal cell nevus syndrome 1 |
| RS2136686524 |
PTCH1
|
Health Risk |
Pathogenic |
— |
| RS2136686539 |
PTCH1
|
Health Risk |
Likely pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136687071 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Neoplasm |
| RS2136689212 |
PTCH1
|
Health Risk |
Pathogenic |
Basal cell nevus syndrome 1, Basal cell nevus syndrome 1 |
| RS2136689297 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136689511 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS2136689543 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136689747 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2136693800 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2136695766 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2136696317 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136697351 |
CD163
|
Health Risk |
risk factor |
Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children |
| RS2136698578 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136698948 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136699335 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2136701578 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136701994 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136702049 |
PAH
|
Health Risk |
Pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136702072 |
PAH
|
Health Risk |
Likely pathogenic |
Phenylketonuria, Phenylketonuria |
| RS2136703640 |
LRP1
|
Health Risk |
Likely pathogenic |
Global developmental delay, Global developmental delay |
| RS2136704614 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2136712996 |
EHMT1
|
Health Risk |
Pathogenic |
Kleefstra syndrome 1, Kleefstra syndrome 1 |
| RS2136722469 |
MSRB3
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74 |
| RS2136724878 |
CEP290
|
Health Risk |
Pathogenic |
Meckel-Gruber syndrome, Nephronophthisis |