| RS587782857 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587782860 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS587782861 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587782862 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS587782863 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587782864 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS587782866 |
RAD50
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587782868 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587782871 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS587782874 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587782876 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS587782877 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1 |
| RS587782879 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS587782880 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS587782883 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS587782884 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587782885 |
MUTYH
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS587782886 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587782887 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS587782888 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS587782889 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS587782891 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS587782892 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS587782893 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Neurofibromatosis |
| RS587782895 |
RAD50
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS587782896 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS587782897 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS587782898 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587782900 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587782901 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS587782904 |
SDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4 |
| RS587782919 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS587782926 |
UBE3A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587782927 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy |
| RS587782928 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS587782929 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS587782930 |
NKX2-5
|
Health Risk |
Pathogenic |
Atrial septal defect 7, Atrial septal defect 7 |
| RS587782931 |
NKX2-5
|
Health Risk |
Conflicting classifications of pathogenicity |
small Atrial septal defect, Single ventricle |
| RS587782933 |
CACNA1C
|
Health Risk |
Pathogenic |
Ventricular fibrillation, paroxysmal familial |
| RS587782940 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Collapse (finding), Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS587782941 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS587782943 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS587782944 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS587782945 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS587782947 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS587782948 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS587782951 |
JPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS587782957 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS587782958 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS587782961 |
MYH7
|
Health Risk |
Likely pathogenic |
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS587782962 |
MYH7
|
Health Risk |
Pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS587782965 |
MYL2
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10 |
| RS587782966 |
MYLK
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Disproportionate tall stature |
| RS587782971 |
RAF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Noonan syndrome, RASopathy |
| RS587782972 |
RAF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Noonan syndrome, Noonan syndrome |
| RS587782974 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS587782977 |
SMAD3
|
Health Risk |
Pathogenic/Likely pathogenic |
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS587782979 |
TGFBR2
|
Health Risk |
Likely pathogenic |
Loeys-Dietz syndrome, Loeys-Dietz syndrome 2 |
| RS587782986 |
TTN
|
Health Risk |
Likely pathogenic |
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS587782987 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS587782990 |
COL11A1
|
Health Risk |
Pathogenic |
sporadic abdominal aortic aneurysm, sporadic abdominal aortic aneurysm |
| RS587782991 |
PURA
|
Health Risk |
Pathogenic |
Global developmental delay, Neonatal hypotonia |
| RS587782992 |
PURA
|
Health Risk |
Likely pathogenic |
Intellectual disability, Global developmental delay |
| RS587782993 |
PURA
|
Health Risk |
Pathogenic |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Delayed speech and language development |
| RS587782994 |
PURA
|
Health Risk |
Pathogenic |
Global developmental delay, Neonatal hypotonia |
| RS587782995 |
PURA
|
Health Risk |
Likely pathogenic |
Delayed speech and language development, Seizure |
| RS587782996 |
PURA
|
Health Risk |
Pathogenic/Likely pathogenic |
Seizure, Neonatal hypotonia |
| RS587782997 |
PURA
|
Health Risk |
Pathogenic |
Global developmental delay, Intellectual disability |
| RS587782998 |
PURA
|
Health Risk |
Pathogenic |
Global developmental delay, Intellectual disability |
| RS587782999 |
PURA
|
Health Risk |
Pathogenic |
Global developmental delay, Intellectual disability |
| RS587783000 |
PURA
|
Health Risk |
Pathogenic |
Global developmental delay, Intellectual disability |
| RS587783001 |
PURA
|
Health Risk |
Pathogenic/Likely pathogenic |
Global developmental delay, Neonatal hypotonia |
| RS587783002 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS587783003 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS587783005 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS587783006 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS587783007 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS587783008 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS587783009 |
CEP290
|
Health Risk |
Pathogenic/Likely pathogenic |
Leber congenital amaurosis 10, Joubert syndrome |
| RS587783010 |
CEP290
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 |
| RS587783011 |
IQCB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Senior-Loken syndrome 5, Nephronophthisis |
| RS587783012 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 6, Leber congenital amaurosis |
| RS587783013 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 3, Retinitis pigmentosa |
| RS587783014 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS587783015 |
CRB1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 8, Retinitis pigmentosa 12 |
| RS587783016 |
CEP290
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 10, Joubert syndrome 5 |
| RS587783017 |
CEP290
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 10, Nephronophthisis |
| RS587783018 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS587783019 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS587783021 |
RIMS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Leber congenital amaurosis, Cone-rod dystrophy 7 |
| RS587783028 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia |
| RS587783029 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587783030 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587783031 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Neoplasm |
| RS587783033 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587783034 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587783035 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Carcinoma of colon |
| RS587783036 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS587783037 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS587783038 |
BMPR1A
|
Health Risk |
Likely pathogenic |
Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli |