| RS878853314 |
GBA1
|
Health Risk |
Likely pathogenic |
Gaucher disease type I, Gaucher disease type I |
| RS878853315 |
GBA1
|
Health Risk |
Likely pathogenic |
Gaucher disease type I, Gaucher disease type I |
| RS878853317 |
GBA1
|
Health Risk |
Likely pathogenic |
Gaucher disease type I, Gaucher disease type I |
| RS878853320 |
GBA1
|
Health Risk |
Likely pathogenic |
Gaucher disease type I, Gaucher disease type I |
| RS878853321 |
GBA1
|
Health Risk |
Likely pathogenic |
Gaucher disease type I, Gaucher disease type I |
| RS878853322 |
PPT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 1, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS878853324 |
PPT1
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis |
| RS878853325 |
PPT1
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS878853326 |
RP1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Inborn genetic diseases |
| RS878853327 |
RP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa 1 |
| RS878853328 |
RP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS878853329 |
RP1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853331 |
PRPF31
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853334 |
PRPF31
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853335 |
PRPF31
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853337 |
CDH23
|
Health Risk |
Pathogenic |
Retinal dystrophy, Pituitary adenoma 5 |
| RS878853338 |
RDH12
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Leber congenital amaurosis 13 |
| RS878853339 |
RDH12
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Leber congenital amaurosis 13 |
| RS878853341 |
RDH12
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Leber congenital amaurosis 13 |
| RS878853342 |
GUCY2D
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853343 |
GUCY2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Leber congenital amaurosis 1 |
| RS878853347 |
CDHR1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853348 |
ADGRV1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853349 |
EYS
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS878853350 |
EYS
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS878853351 |
LRAT
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853352 |
BBS7
|
Health Risk |
Pathogenic |
Retinal dystrophy, Bardet-Biedl syndrome 7 |
| RS878853353 |
MERTK
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS878853354 |
MERTK
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS878853355 |
MERTK
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853357 |
IMPG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS878853358 |
IMPG2
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853359 |
CNGA3
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853360 |
CEP290
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Nephronophthisis |
| RS878853361 |
CEP290
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853362 |
CEP290
|
Health Risk |
Pathogenic |
Retinal dystrophy, Nephronophthisis |
| RS878853363 |
CEP290
|
Health Risk |
Pathogenic |
Retinal dystrophy, Joubert syndrome |
| RS878853364 |
CRB1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa 12 |
| RS878853366 |
CRB1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853367 |
CRB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa 12 |
| RS878853368 |
CRB1
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS878853369 |
CRB1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853370 |
CRB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS878853371 |
CRB1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa 12 |
| RS878853372 |
RPE65
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa 20 |
| RS878853373 |
RPGR
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, RPGR-related retinopathy |
| RS878853374 |
RPGR
|
Health Risk |
Pathogenic |
Retinal dystrophy, RPGR-related retinopathy |
| RS878853376 |
MYO7A
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853378 |
MYO7A
|
Health Risk |
Pathogenic |
Retinal dystrophy, Usher syndrome type 1 |
| RS878853379 |
CLRN1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853381 |
RP2
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853382 |
LCA5
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853383 |
CRX
|
Health Risk |
Pathogenic |
Retinal dystrophy, Leber congenital amaurosis 7 |
| RS878853385 |
SPATA7
|
Health Risk |
Pathogenic |
Retinal dystrophy, Leber congenital amaurosis 3 |
| RS878853387 |
PRPF8
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853389 |
RPGRIP1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853390 |
RPGRIP1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853391 |
RPGRIP1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853392 |
RPGRIP1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Leber congenital amaurosis 6 |
| RS878853394 |
CNGB1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa 45 |
| RS878853396 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853397 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, ABCA4-related retinopathy |
| RS878853400 |
PROM1
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Cone-rod dystrophy 12 |
| RS878853404 |
USH2A
|
Health Risk |
Pathogenic |
Retinal dystrophy, Usher syndrome type 2A |
| RS878853405 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Usher syndrome type 2A |
| RS878853407 |
USH2A
|
Health Risk |
Pathogenic |
Retinal dystrophy, Usher syndrome type 2A |
| RS878853408 |
USH2A
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853409 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS878853410 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa 39 |
| RS878853411 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa 39 |
| RS878853412 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinitis pigmentosa |
| RS878853413 |
USH2A
|
Health Risk |
Pathogenic |
Retinal dystrophy, Usher syndrome |
| RS878853414 |
USH2A
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS878853419 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS878853420 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS878853422 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Carcinoma of colon |
| RS878853425 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS878853426 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS878853427 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS878853428 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS878853432 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS878853436 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS878853438 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS878853444 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS878853449 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS878853451 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS878853454 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS878853458 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS878853459 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS878853464 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders |
| RS878853465 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS878853471 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS878853475 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis |
| RS878853476 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS878853486 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853489 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853490 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853491 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS878853492 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853493 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |