| RS1590822296 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, C1 inhibitor deficiency |
| RS1590822371 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590822588 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590822719 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590822739 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590823884 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590826505 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590826571 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590826703 |
SERPING1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590829609 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590829616 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590829685 |
SERPING1
|
Health Risk |
Likely pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590829763 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590831385 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590831432 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590831492 |
SERPING1
|
Health Risk |
Likely pathogenic |
— |
| RS1590831545 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1590835834 |
IL18BP
|
Health Risk |
risk factor |
Hepatitis, fulminant viral |
| RS1590844551 |
PACS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases |
| RS1590847310 |
CAPN1
|
Health Risk |
Pathogenic |
Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1590854624 |
CBLIF
|
Health Risk |
Pathogenic |
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1590859406 |
CBLIF
|
Health Risk |
Likely pathogenic |
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1590860794 |
CBLIF
|
Health Risk |
Pathogenic |
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1590860877 |
CBLIF
|
Health Risk |
Pathogenic |
Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency |
| RS1590864380 |
PHF21A
|
Health Risk |
Conflicting classifications of pathogenicity |
See cases, See cases |
| RS1590881633 |
BSCL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2, Neuronopathy |
| RS1590884711 |
SYNE1
|
Health Risk |
Likely pathogenic |
— |
| RS1590902150 |
TYR
|
Health Risk |
Likely pathogenic |
Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A |
| RS1590902378 |
TYR
|
Health Risk |
Likely pathogenic |
Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A |
| RS1590909462 |
TYR
|
Health Risk |
Pathogenic/Likely pathogenic |
Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3 |
| RS1590911156 |
SPTBN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14 |
| RS1590915496 |
C2CD3
|
Health Risk |
Likely pathogenic |
— |
| RS1590930234 |
SHANK2
|
Health Risk |
Likely pathogenic |
— |
| RS1590931704 |
RELA
|
Health Risk |
Likely pathogenic |
Mucocutaneous ulceration, Mucocutaneous ulceration |
| RS1590937041 |
RELA
|
Health Risk |
Pathogenic |
— |
| RS1590943821 |
FZD4
|
Health Risk |
Likely pathogenic |
— |
| RS1590947700 |
CLPB
|
Health Risk |
Conflicting classifications of pathogenicity |
3-methylglutaconic aciduria, type VIIB |
| RS1590954686 |
KMT5B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 51 |
| RS1590955042 |
KMT5B
|
Health Risk |
Likely pathogenic |
— |
| RS1590955348 |
SPTBN2
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5 |
| RS1590956245 |
KMT5B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 51 |
| RS1590962541 |
CEP57
|
Health Risk |
Likely pathogenic |
Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2 |
| RS1590968942 |
MTMR2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1590970875 |
MTMR2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B1 |
| RS1590971080 |
MTMR2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1590974546 |
MTMR2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS1590974596 |
MTMR2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1590991247 |
C2CD3
|
Health Risk |
Pathogenic |
— |
| RS1590997023 |
MTMR2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1590997541 |
MTMR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 |
| RS1590998146 |
SYNE1
|
Health Risk |
Likely pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS1590998813 |
CABP4
|
Health Risk |
Pathogenic |
Cone-rod synaptic disorder, congenital nonprogressive |
| RS1591002808 |
HPS1
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1591003183 |
HPS1
|
Health Risk |
Likely pathogenic |
— |
| RS1591019480 |
PCDH15
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23 |
| RS1591022148 |
HTRA1
|
Health Risk |
Likely pathogenic |
— |
| RS1591023585 |
PDE2A
|
Health Risk |
Pathogenic |
6 conditions, Intellectual developmental disorder with paroxysmal dyskinesia or seizures |
| RS1591028090 |
FERMT3
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS1591031929 |
HPS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1591037806 |
FERMT3
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS1591038507 |
FERMT3
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS1591042753 |
AIP
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591044758 |
AIP
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591045080 |
HPS1
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1591046113 |
AIP
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591055649 |
HPS1
|
Health Risk |
Likely pathogenic |
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1591064775 |
EFEMP2
|
Health Risk |
Pathogenic |
Cutis laxa, autosomal recessive |
| RS1591077467 |
CABP2
|
Health Risk |
Likely pathogenic |
— |
| RS1591082099 |
HPS1
|
Health Risk |
Likely pathogenic |
— |
| RS1591092743 |
PHF21A
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1591092841 |
HPS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1591093208 |
HPS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1591095476 |
PCDH15
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome, Usher syndrome |
| RS1591099349 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1591099510 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591100766 |
YAP1
|
Health Risk |
Likely pathogenic |
Multiple myeloma, Multiple myeloma |
| RS1591102099 |
PHF21A
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1591107040 |
DHCR7
|
Health Risk |
Pathogenic/Likely pathogenic |
Smith-Lemli-Opitz syndrome, Inborn genetic diseases |
| RS1591107062 |
DHCR7
|
Health Risk |
Likely pathogenic |
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1591107421 |
DHCR7
|
Health Risk |
Pathogenic/Likely pathogenic |
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1591107480 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1591109039 |
DHCR7
|
Health Risk |
Pathogenic |
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1591109810 |
NDUFV1
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 4 |
| RS1591109881 |
HPS1
|
Health Risk |
Likely pathogenic |
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1591109892 |
DHCR7
|
Health Risk |
Pathogenic |
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1591111319 |
DHCR7
|
Health Risk |
Likely pathogenic |
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1591111808 |
NDUFV1
|
Health Risk |
Likely pathogenic |
Leigh syndrome, Mitochondrial complex I deficiency |
| RS1591117575 |
PC
|
Health Risk |
Pathogenic |
Congenital lactic acidosis, Congenital lactic acidosis |
| RS1591119887 |
PC
|
Health Risk |
Conflicting classifications of pathogenicity |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS1591120765 |
HPS1
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1591122325 |
PC
|
Health Risk |
Conflicting classifications of pathogenicity |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS1591128179 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1591128291 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1591128898 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1591129041 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591129305 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591129337 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591133731 |
TYR
|
Health Risk |
Conflicting classifications of pathogenicity |
Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B |
| RS1591133875 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS1591137064 |
MYRF
|
Health Risk |
Pathogenic |
Nanophthalmos 1, Nanophthalmos 1 |