| RS878853903 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS878853904 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS878853907 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS878853908 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS878853909 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS878853912 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS878853913 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS878853915 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS878853917 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS878853918 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS878853921 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS878853922 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS878853924 |
NF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 2 |
| RS878853925 |
NF2
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 2 |
| RS878853929 |
PPT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS878853933 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS878853934 |
PTEN
|
Health Risk |
Likely pathogenic |
PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS878853936 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS878853937 |
PTEN
|
Health Risk |
Likely pathogenic |
PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS878853940 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS878853941 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS878853942 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS878853944 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS878853947 |
RB1
|
Health Risk |
Pathogenic |
Retinoblastoma, Retinoblastoma |
| RS878853949 |
RB1
|
Health Risk |
Pathogenic |
Retinoblastoma, Hereditary cancer-predisposing syndrome |
| RS878853950 |
RB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinoblastoma, Hereditary cancer-predisposing syndrome |
| RS878853955 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS878853959 |
TSC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome |
| RS878853964 |
TSC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome |
| RS878853968 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome |
| RS878853970 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS878853973 |
APOB
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS878853975 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS878853978 |
COL5A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Ehlers-Danlos syndrome, classic type |
| RS878853979 |
L1CAM
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS878853984 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS878853985 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS878853986 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS878853988 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS878853989 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS878853990 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS878853992 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS878853994 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS878853995 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS878853996 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS878854003 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS878854006 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS878854007 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS878854011 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS878854021 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, CFTR-related disorder |
| RS878854022 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS878854024 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS878854025 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS878854026 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS878854027 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS878854028 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS878854029 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS878854036 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS878854037 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS878854039 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS878854040 |
PMS2
|
Health Risk |
Pathogenic |
Mismatch repair cancer syndrome 4, Mismatch repair cancer syndrome 4 |
| RS878854047 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS878854055 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS878854056 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS878854057 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4 |
| RS878854059 |
PMS2
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS878854060 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4 |
| RS878854064 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS878854068 |
TP53
|
Health Risk |
Pathogenic |
Ovarian neoplasm, Ovarian neoplasm |
| RS878854069 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS878854070 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS878854071 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS878854072 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS878854073 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Li-Fraumeni syndrome, Squamous cell lung carcinoma |
| RS878854075 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS878854076 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854077 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Lymphangiomyomatosis |
| RS878854080 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854081 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854082 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS878854084 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854085 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854087 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854092 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854094 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854100 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Isolated focal cortical dysplasia type II |
| RS878854101 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854103 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854104 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Neurodevelopmental delay |
| RS878854109 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854111 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854112 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Tuberous sclerosis syndrome |
| RS878854115 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS878854118 |
TSC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS878854119 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854120 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854121 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854122 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854123 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS878854127 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Chuvash polycythemia, Von Hippel-Lindau syndrome |