| RS104894435 |
GCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dystonia 5, GTP cyclohydrolase I deficiency |
| RS104894437 |
GCH1
|
Health Risk |
Pathogenic |
Dystonia 5, Dystonia 5 |
| RS104894438 |
GCH1
|
Health Risk |
Pathogenic |
Dystonia 5, Dystonia 5 |
| RS104894439 |
GCH1
|
Health Risk |
Pathogenic |
Dystonia 5, Dystonia 5 |
| RS104894440 |
GCH1
|
Health Risk |
Pathogenic |
Dystonia 5, Dystonia 5 |
| RS104894441 |
GCH1
|
Health Risk |
Pathogenic |
Dystonia 5, Dystonia 5 |
| RS104894443 |
GCH1
|
Health Risk |
Pathogenic |
GTP cyclohydrolase I deficiency with hyperphenylalaninemia, GTP cyclohydrolase I deficiency with hyperphenylalaninemia |
| RS104894444 |
GCH1
|
Health Risk |
Pathogenic |
Dystonia 5, GTP cyclohydrolase I deficiency |
| RS104894445 |
GCH1
|
Health Risk |
Pathogenic |
GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS104894447 |
MGAT2
|
Health Risk |
Pathogenic |
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS104894448 |
MGAT2
|
Health Risk |
Pathogenic |
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS104894449 |
MGAT2
|
Health Risk |
Pathogenic |
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS104894450 |
PNP
|
Health Risk |
Pathogenic/Likely pathogenic |
Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease |
| RS104894451 |
PNP
|
Health Risk |
Pathogenic/Likely pathogenic |
Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease |
| RS104894452 |
PNP
|
Health Risk |
Conflicting classifications of pathogenicity |
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS104894453 |
PNP
|
Health Risk |
Pathogenic |
Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease |
| RS104894454 |
PNP
|
Health Risk |
Likely pathogenic |
Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease |
| RS104894455 |
PNP
|
Health Risk |
Pathogenic |
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS104894457 |
NPC2
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C2 |
| RS104894458 |
NPC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Niemann-Pick disease, type C2 |
| RS104894459 |
NRL
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 27, Retinal dystrophy |
| RS104894460 |
PNP
|
Health Risk |
Pathogenic |
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS104894463 |
NRL
|
Health Risk |
Likely pathogenic |
ENHANCED S-CONE SYNDROME 2, ENHANCED S-CONE SYNDROME 2 |
| RS104894464 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS104894465 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS104894467 |
PAX9
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS104894470 |
RDH12
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS104894471 |
RDH12
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 13, Retinal dystrophy |
| RS104894472 |
RDH12
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS104894473 |
RDH12
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS104894474 |
RDH12
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 13, Retinitis pigmentosa |
| RS104894475 |
RDH12
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS104894476 |
RDH12
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 13, Leber congenital amaurosis 13 |
| RS104894478 |
SIX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS104894483 |
CLN6
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS104894484 |
CLN6
|
Health Risk |
Conflicting classifications of pathogenicity |
Ceroid lipofuscinosis, neuronal |
| RS104894486 |
CLN6
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS104894487 |
EPB42
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spherocytosis type 5, EPB42-related disorder |
| RS104894488 |
HCN4
|
Health Risk |
Pathogenic |
Sick sinus syndrome 2, autosomal dominant |
| RS104894489 |
MPI
|
Health Risk |
Pathogenic |
MPI-congenital disorder of glycosylation, MPI-related disorder |
| RS104894490 |
NIPA1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS104894492 |
NR2E3
|
Health Risk |
Pathogenic/Likely pathogenic |
Enhanced S-cone syndrome, Retinitis pigmentosa |
| RS104894493 |
NR2E3
|
Health Risk |
Pathogenic/Likely pathogenic |
Enhanced S-cone syndrome, NR2E3-related disorder |
| RS104894494 |
MPI
|
Health Risk |
Pathogenic/Likely pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS104894495 |
MPI
|
Health Risk |
Likely pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS104894496 |
NIPA1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS104894497 |
RAB27A
|
Health Risk |
Likely pathogenic |
Griscelli syndrome type 2, Griscelli syndrome type 2 |
| RS104894498 |
RAB27A
|
Health Risk |
Pathogenic |
Griscelli syndrome type 2, Griscelli syndrome type 2 |
| RS104894499 |
RAB27A
|
Health Risk |
Pathogenic |
Griscelli syndrome type 2, Griscelli syndrome type 2 |
| RS104894500 |
RAB27A
|
Health Risk |
Pathogenic |
Griscelli syndrome type 2, Multisystem inflammatory syndrome in children |
| RS104894502 |
TPM1
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy |
| RS104894503 |
TPM1
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 3, Primary familial hypertrophic cardiomyopathy |
| RS104894504 |
TPM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy |
| RS104894505 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy |
| RS104894506 |
APRT
|
Health Risk |
Pathogenic |
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS104894507 |
APRT
|
Health Risk |
Pathogenic |
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS104894508 |
APRT
|
Health Risk |
Pathogenic |
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS104894511 |
CYBA
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS104894513 |
CYBA
|
Health Risk |
Pathogenic/Likely pathogenic |
Granulomatous disease, chronic |
| RS104894514 |
CYBA
|
Health Risk |
Pathogenic/Likely pathogenic |
Granulomatous disease, chronic |
| RS104894515 |
CYBA
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS104894516 |
FOXC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS104894518 |
HSD3B7
|
Health Risk |
Pathogenic |
Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS104894519 |
LITAF
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease |
| RS104894520 |
LITAF
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1C |
| RS104894521 |
LITAF
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1C |
| RS104894522 |
LITAF
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1C |
| RS104894523 |
MC1R
|
Health Risk |
risk factor |
UV-induced skin damage, susceptibility to |
| RS104894525 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS104894526 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS104894527 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS104894528 |
MLYCD
|
Health Risk |
Pathogenic |
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS104894530 |
PMM2
|
Health Risk |
Conflicting classifications of pathogenicity |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS104894531 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS104894532 |
PMM2
|
Health Risk |
Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS104894533 |
PMM2
|
Health Risk |
Pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS104894534 |
PMM2
|
Health Risk |
Pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS104894535 |
SALL1
|
Health Risk |
Pathogenic |
Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS104894537 |
SALL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Townes-Brocks syndrome 1, Townes syndrome |
| RS104894538 |
SALL1
|
Health Risk |
Pathogenic |
Townes-Brocks-branchiootorenal-like syndrome, Townes syndrome |
| RS104894539 |
VKORC1
|
Health Risk |
Pathogenic |
Warfarin response, Warfarin response |
| RS104894540 |
VKORC1
|
Health Risk |
Pathogenic |
Warfarin response, Warfarin response |
| RS104894541 |
VKORC1
|
Health Risk |
Pathogenic |
Warfarin response, Warfarin response |
| RS104894544 |
ACTG1
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 20, Nonsyndromic genetic hearing loss |
| RS104894545 |
ACTG1
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2 |
| RS104894546 |
ACTG1
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS104894547 |
ACTG1
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS104894548 |
ASPA
|
Health Risk |
Pathogenic/Likely pathogenic |
Spongy degeneration of central nervous system, Canavan Disease |
| RS104894549 |
ASPA
|
Health Risk |
Pathogenic |
Spongy degeneration of central nervous system, Canavan Disease |
| RS104894550 |
ASPA
|
Health Risk |
Pathogenic |
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS104894551 |
ASPA
|
Health Risk |
Likely pathogenic |
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS104894552 |
ASPA
|
Health Risk |
Pathogenic/Likely pathogenic |
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS104894553 |
ASPA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mild Canavan disease, Spongy degeneration of central nervous system |
| RS104894555 |
COX10
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 3 |
| RS104894556 |
COX10
|
Health Risk |
Likely pathogenic |
Mitochondrial complex IV deficiency, nuclear type 3 |
| RS104894557 |
COX10
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 3 |
| RS104894559 |
CA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 17, Retinitis pigmentosa |
| RS104894560 |
COX10
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 3 |
| RS104894561 |
CSNK1D
|
Health Risk |
Pathogenic |
Advanced sleep phase syndrome 2, Advanced sleep phase syndrome 2 |
| RS104894562 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |