| RS137852978 |
DICER1
|
Health Risk |
Pathogenic |
Pleuropulmonary blastoma, DICER1-related tumor predisposition |
| RS137852979 |
DICER1
|
Health Risk |
Pathogenic |
Pleuropulmonary blastoma, DICER1-related tumor predisposition |
| RS137852980 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS137852981 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS137852982 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS137852983 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS137852986 |
BRIP1
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome |
| RS137852987 |
ABCG8
|
Health Risk |
Pathogenic/Likely pathogenic |
Sitosterolemia, Sitosterolemia 1 |
| RS137852988 |
ABCG8
|
Health Risk |
Pathogenic/Likely pathogenic |
Sitosterolemia, Sitosterolemia 1 |
| RS137852989 |
ABCG8
|
Health Risk |
Conflicting classifications of pathogenicity |
Sitosterolemia 1, Cardiovascular phenotype |
| RS137852990 |
ABCG8
|
Health Risk |
Conflicting classifications of pathogenicity |
Sitosterolemia 1, ABCG8-related disorder |
| RS137852991 |
ABCG8
|
Health Risk |
Pathogenic/Likely pathogenic |
Sitosterolemia, Sitosterolemia 1 |
| RS137852992 |
ABCG8
|
Health Risk |
Pathogenic |
Sitosterolemia 1, Sitosterolemia 1 |
| RS137852993 |
ABCG8
|
Health Risk |
Pathogenic |
Sitosterolemia 1, Sitosterolemia 1 |
| RS137852994 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS137852995 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS137852996 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS137852997 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS137852998 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 9, Primary ciliary dyskinesia |
| RS137852999 |
TMPRSS3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 8, Hearing impairment |
| RS137853000 |
TMPRSS3
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness |
| RS137853001 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23 |
| RS137853002 |
PCDH15
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23 |
| RS137853003 |
PCDH15
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 23, Rare genetic deafness |
| RS137853004 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1F, Usher syndrome type 1F |
| RS137853005 |
PROM1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 41, Retinitis pigmentosa |
| RS137853006 |
PROM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Stargardt disease 4, Retinal macular dystrophy type 2 |
| RS137853007 |
CHEK2
|
Health Risk |
Likely pathogenic |
CHEK2-related cancer predisposition, Hereditary cancer-predisposing syndrome |
| RS137853008 |
CHEK2
|
Health Risk |
Pathogenic |
Bone osteosarcoma, Bone osteosarcoma |
| RS137853009 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS137853010 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Prostate cancer, somatic |
| RS137853011 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast cancer, susceptibility to |
| RS137853012 |
ATP2C1
|
Health Risk |
Pathogenic |
Familial benign pemphigus, Familial benign pemphigus |
| RS137853013 |
ATP2C1
|
Health Risk |
Pathogenic |
Familial benign pemphigus, Familial benign pemphigus |
| RS137853014 |
ATP2C1
|
Health Risk |
Pathogenic |
Familial benign pemphigus, Familial benign pemphigus |
| RS137853015 |
ATP2C1
|
Health Risk |
Pathogenic |
Familial benign pemphigus, Familial benign pemphigus |
| RS137853016 |
SACS
|
Health Risk |
Pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS137853017 |
SACS
|
Health Risk |
Pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS137853018 |
SACS
|
Health Risk |
Pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS137853019 |
SACS
|
Health Risk |
Pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS137853021 |
SIX3
|
Health Risk |
Pathogenic |
Holoprosencephaly 2, Holoprosencephaly 2 |
| RS137853022 |
ELP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial dysautonomia, Charcot-Marie-Tooth disease |
| RS137853023 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS137853024 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS137853025 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS137853026 |
DYNC2H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS137853027 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS137853028 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS137853029 |
DYNC2H1
|
Health Risk |
Pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS137853030 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS137853031 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS137853032 |
DYNC2H1
|
Health Risk |
Pathogenic |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS137853033 |
DYNC2H1
|
Health Risk |
Pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS137853034 |
DYNC2H1
|
Health Risk |
Pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS137853035 |
DYNC2H1
|
Health Risk |
Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS137853036 |
EPAS1
|
Health Risk |
Pathogenic |
Erythrocytosis, familial |
| RS137853037 |
EPAS1
|
Health Risk |
Pathogenic |
Erythrocytosis, familial |
| RS137853038 |
EP300
|
Health Risk |
Pathogenic |
Carcinoma of colon, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS137853039 |
EP300
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS137853040 |
ADAM9
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS137853041 |
ADAM9
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 9, Cone-rod dystrophy |
| RS137853042 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS137853043 |
TUBA1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Lissencephaly due to TUBA1A mutation, Inborn genetic diseases |
| RS137853044 |
TUBA1A
|
Health Risk |
Pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS137853045 |
TUBA1A
|
Health Risk |
Pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS137853046 |
TUBA1A
|
Health Risk |
Pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS137853047 |
TUBA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS137853048 |
TUBA1A
|
Health Risk |
Pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS137853049 |
TUBA1A
|
Health Risk |
Pathogenic |
Lissencephaly due to TUBA1A mutation, Inborn genetic diseases |
| RS137853050 |
TUBA1A
|
Health Risk |
Pathogenic |
Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS137853051 |
PARK7
|
Health Risk |
Pathogenic |
Parkinson disease, autosomal recessive early-onset |
| RS137853052 |
RAB3GAP1
|
Health Risk |
Pathogenic |
Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS137853053 |
RAB3GAP1
|
Health Risk |
Pathogenic |
Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS137853054 |
PRKN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853055 |
PRKN
|
Health Risk |
Pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853056 |
PRKN
|
Health Risk |
Likely pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853057 |
PRKN
|
Health Risk |
Pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853058 |
PRKN
|
Health Risk |
Pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853059 |
PRKN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853060 |
PRKN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Lung cancer |
| RS137853061 |
MTRR
|
Health Risk |
Pathogenic/Likely pathogenic |
Methylcobalamin deficiency type cblE, Inborn genetic diseases |
| RS137853062 |
MTRR
|
Health Risk |
Pathogenic/Likely pathogenic |
Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism |
| RS137853063 |
VRK1
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1A, Inborn genetic diseases |
| RS137853065 |
MYD88
|
Health Risk |
Pathogenic |
Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency |
| RS137853066 |
KCNJ10
|
Health Risk |
Pathogenic |
EAST syndrome, Microcephaly |
| RS137853067 |
KCNJ10
|
Health Risk |
Pathogenic/Likely pathogenic |
EAST syndrome, Pendred syndrome |
| RS137853068 |
KCNJ10
|
Health Risk |
Pathogenic |
EAST syndrome, EAST syndrome |
| RS137853069 |
KCNJ10
|
Health Risk |
Pathogenic |
EAST syndrome, EAST syndrome |
| RS137853070 |
KCNJ10
|
Health Risk |
Pathogenic |
EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS137853071 |
KCNJ10
|
Health Risk |
Pathogenic/Likely pathogenic |
EAST syndrome, Pendred syndrome |
| RS137853072 |
KCNJ10
|
Health Risk |
Pathogenic |
EAST syndrome, EAST syndrome |
| RS137853073 |
KCNJ10
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome |
| RS137853074 |
KCNJ10
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome |
| RS137853075 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS137853076 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS137853077 |
STK11
|
Health Risk |
Pathogenic/Likely pathogenic |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS137853078 |
STK11
|
Health Risk |
Pathogenic |
Malignant tumor of testis, Hereditary cancer-predisposing syndrome |
| RS137853079 |
STK11
|
Health Risk |
Pathogenic |
Carcinoma of pancreas, Hereditary cancer-predisposing syndrome |
| RS137853080 |
STK11
|
Health Risk |
Pathogenic |
Melanoma, cutaneous malignant |
| RS137853081 |
STK11
|
Health Risk |
Pathogenic |
Melanoma, cutaneous malignant |