| RS1060499773 |
EPB41L1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499774 |
GRIP1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499775 |
ITGA7
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499776 |
MTO1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499777 |
NGLY1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499778 |
PTCHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Abnormal brain morphology, Autism |
| RS1060499779 |
VPS13B
|
Health Risk |
Conflicting classifications of pathogenicity |
Abnormal brain morphology, Cohen syndrome |
| RS1060499780 |
ADAMTS13
|
Health Risk |
Likely pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1060499781 |
CEP290
|
Health Risk |
Likely pathogenic |
Joubert syndrome 5, Meckel-Gruber syndrome |
| RS1060499782 |
CHRND
|
Health Risk |
Likely pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1060499783 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa |
| RS1060499784 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1060499785 |
LRPPRC
|
Health Risk |
Likely pathogenic |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS1060499787 |
SLC7A9
|
Health Risk |
Likely pathogenic |
Cystinuria, Cystinuria |
| RS1060499788 |
CDH23
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12 |
| RS1060499789 |
CDH23
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5 |
| RS1060499790 |
CDH23
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12 |
| RS1060499791 |
CDH23
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12 |
| RS1060499792 |
CDH23
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12 |
| RS1060499793 |
CDH23
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12 |
| RS1060499794 |
ESRRB
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS1060499795 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2C, Usher syndrome type 2C |
| RS1060499796 |
ADGRV1
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 2C, Usher syndrome |
| RS1060499797 |
GPSM2
|
Health Risk |
Pathogenic |
Hearing loss, autosomal recessive |
| RS1060499798 |
MYO15A
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Hearing impairment |
| RS1060499799 |
MYO6
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37 |
| RS1060499800 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1 |
| RS1060499801 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1 |
| RS1060499802 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2 |
| RS1060499803 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2 |
| RS1060499804 |
OTOA
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1060499805 |
OTOF
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS1060499806 |
POU3F4
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS1060499807 |
SLC26A4
|
Health Risk |
Pathogenic |
Pendred syndrome, Pendred syndrome |
| RS1060499808 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS1060499809 |
TRIOBP
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28 |
| RS1060499810 |
LHFPL5
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67 |
| RS1060499811 |
TMPRSS3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS1060499812 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS1060499813 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499814 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499815 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499818 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499819 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499821 |
PALB2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499823 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499824 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499827 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499828 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499829 |
PALB2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499830 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499831 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1060499833 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060499834 |
SRD5A2
|
Health Risk |
Pathogenic |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1060499835 |
NR0B1
|
Health Risk |
Likely pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS1060499841 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS1060499876 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1060499880 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS1060499882 |
MYL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy 10 |
| RS1060499891 |
PKP2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1060499900 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrhythmia, Brugada syndrome 1 |
| RS1060499901 |
SDHAF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1060499916 |
USH1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C |
| RS1060499919 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS1060499921 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS1060499922 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS1060499923 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS1060499924 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS1060499926 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS1060499927 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS1060499930 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS1060499931 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS1060499932 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS1060499934 |
MAGEL2
|
Health Risk |
Pathogenic |
Schaaf-Yang syndrome, Schaaf-Yang syndrome |
| RS1060499935 |
MME
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS1060499936 |
SMARCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 16 |
| RS1060499937 |
CHD7
|
Health Risk |
Likely pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS1060499938 |
NPHP3
|
Health Risk |
Pathogenic |
Nephronophthisis 3, Nephronophthisis 3 |
| RS1060499939 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS1060499940 |
SCN5A
|
Health Risk |
Pathogenic |
Familial isolated arrhythmogenic right ventricular dysplasia, Brugada syndrome 1 |
| RS1060499941 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS1060499953 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499956 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499958 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499959 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499960 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS1060499961 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS1060499964 |
STK11
|
Health Risk |
Likely pathogenic |
Melanoma, Neoplasm |
| RS1060499968 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499969 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499970 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499971 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499972 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499973 |
MEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1060499974 |
MEN1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia |
| RS1060499975 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499976 |
MEN1
|
Health Risk |
Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1060499977 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1060499981 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS1060499982 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |