| RS1569120831 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1569120903 |
EP300
|
Health Risk |
Likely pathogenic |
Menke-Hennekam syndrome 2, Menke-Hennekam syndrome 2 |
| RS1569120910 |
EP300
|
Health Risk |
Pathogenic |
Menke-Hennekam syndrome 2, Menke-Hennekam syndrome 2 |
| RS1569121048 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1569121172 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569122408 |
OFD1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1569122847 |
EP300
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| RS1569124017 |
CELSR1
|
Health Risk |
Pathogenic |
Lymphatic malformation 9, Lymphatic malformation |
| RS1569127917 |
CHEK2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1569128307 |
OFD1
|
Health Risk |
Pathogenic |
Joubert syndrome, Orofaciodigital syndrome I |
| RS1569129998 |
TUBGCP6
|
Health Risk |
Pathogenic |
— |
| RS1569130365 |
PTCHD1
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1569133268 |
CELSR1
|
Health Risk |
Likely pathogenic |
Lymphatic malformation, Lymphatic malformation |
| RS1569137812 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569138023 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Inborn genetic diseases |
| RS1569138057 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1569139160 |
CACNA1C
|
Health Risk |
Pathogenic |
Long QT syndrome 8, Long QT syndrome 8 |
| RS1569139778 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1569140330 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1569141500 |
OFD1
|
Health Risk |
Pathogenic |
Joubert syndrome, Orofaciodigital syndrome I |
| RS1569141899 |
CELSR1
|
Health Risk |
Pathogenic |
Lymphatic malformation 9, Lymphatic malformation |
| RS1569143903 |
TCF20
|
Health Risk |
Likely pathogenic |
— |
| RS1569144264 |
TCF20
|
Health Risk |
Pathogenic |
Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS1569144348 |
TCF20
|
Health Risk |
Pathogenic |
Neurodevelopmental abnormality, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569145145 |
OFD1
|
Health Risk |
Likely pathogenic |
Orofaciodigital syndrome I, Orofaciodigital syndrome I |
| RS1569146193 |
BCOR
|
Health Risk |
Pathogenic |
Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS1569146455 |
TCF20
|
Health Risk |
Pathogenic |
Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569146542 |
TCF20
|
Health Risk |
Pathogenic/Likely pathogenic |
TCF20-related disorder, Intellectual disability |
| RS1569146649 |
TCF20
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1569146993 |
TCF20
|
Health Risk |
Pathogenic |
Failure to thrive, Generalized hypotonia |
| RS1569147057 |
SYNJ1
|
Health Risk |
Pathogenic |
Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy |
| RS1569147202 |
TCF20
|
Health Risk |
Pathogenic |
Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569147315 |
TCF20
|
Health Risk |
Pathogenic |
Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS1569148952 |
H2AP
|
Health Risk |
Pathogenic |
Short stature, Short stature |
| RS1569149539 |
TCF20
|
Health Risk |
Likely pathogenic |
Mild intellectual disability, Myoclonus |
| RS1569149953 |
CHEK2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1569150017 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569150452 |
TCF20
|
Health Risk |
Pathogenic |
Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS1569150635 |
TCF20
|
Health Risk |
Pathogenic |
Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS1569150885 |
TCF20
|
Health Risk |
Pathogenic |
Neurodevelopmental abnormality, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569151204 |
TCF20
|
Health Risk |
Pathogenic |
Mild intellectual disability, Autism |
| RS1569151872 |
TSPEAR
|
Health Risk |
Pathogenic/Likely pathogenic |
TSPEAR-related disorder of tooth and hair follicle morphogenesis, Ectodermal dysplasia 14 |
| RS1569151886 |
TCF20
|
Health Risk |
Pathogenic |
Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569152303 |
POFUT1
|
Health Risk |
Pathogenic |
Dowling-Degos disease 2, Dowling-Degos disease 2 |
| RS1569152752 |
LZTR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1569153066 |
TCF20
|
Health Risk |
Pathogenic |
Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569153159 |
TCF20
|
Health Risk |
Pathogenic |
Neurodevelopmental abnormality, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569153459 |
PCNT
|
Health Risk |
Pathogenic |
— |
| RS1569153870 |
LZTR1
|
Health Risk |
Pathogenic |
LZTR1-related schwannomatosis, LZTR1-related schwannomatosis |
| RS1569153915 |
TCF20
|
Health Risk |
Pathogenic |
— |
| RS1569153948 |
BCOR
|
Health Risk |
Pathogenic |
— |
| RS1569153986 |
TCF20
|
Health Risk |
Pathogenic |
Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569154591 |
TCF20
|
Health Risk |
Likely pathogenic |
Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities |
| RS1569154722 |
LZTR1
|
Health Risk |
Pathogenic |
LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome |
| RS1569155256 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS1569156022 |
LZTR1
|
Health Risk |
Conflicting classifications of pathogenicity |
LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome |
| RS1569157346 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
RASopathy, Hereditary cancer-predisposing syndrome |
| RS1569157403 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1569157733 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569157966 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1569158075 |
CHEK2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1569158640 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569158776 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569161831 |
CNKSR2
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1569162748 |
OFD1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1569163423 |
OFD1
|
Health Risk |
Pathogenic |
Joubert syndrome, Primary ciliary dyskinesia |
| RS1569164463 |
TSPEAR
|
Health Risk |
Pathogenic |
— |
| RS1569164733 |
OFD1
|
Health Risk |
Pathogenic |
Joubert syndrome, Primary ciliary dyskinesia |
| RS1569164829 |
OFD1
|
Health Risk |
Pathogenic |
Joubert syndrome, Primary ciliary dyskinesia |
| RS1569165417 |
USP9X
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 99 |
| RS1569165728 |
TSPEAR
|
Health Risk |
Likely pathogenic |
— |
| RS1569166925 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS1569167515 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS1569167586 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1569167607 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 2E, Waardenburg syndrome type 2E |
| RS1569169199 |
SOX10
|
Health Risk |
Pathogenic |
— |
| RS1569169273 |
SOX10
|
Health Risk |
Pathogenic |
— |
| RS1569169289 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 2E, Waardenburg syndrome type 2E |
| RS1569169328 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS1569169560 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1569169736 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1569169765 |
CHEK2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1569169965 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569170839 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569171106 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1569171143 |
SOX10
|
Health Risk |
Conflicting classifications of pathogenicity |
Waardenburg syndrome type 2E, Waardenburg syndrome type 2E |
| RS1569171175 |
SOX10
|
Health Risk |
Pathogenic |
— |
| RS1569172839 |
MYO18B
|
Health Risk |
Pathogenic/Likely pathogenic |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil syndrome |
| RS1569174722 |
ALG12
|
Health Risk |
Pathogenic |
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1569175699 |
ALG12
|
Health Risk |
Pathogenic |
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1569175744 |
ALG12
|
Health Risk |
Pathogenic |
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1569178877 |
PCNT
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS1569179995 |
PIGA
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1569180071 |
PIGA
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1569180100 |
PIGA
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1 |
| RS1569185857 |
PEX26
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B |
| RS1569186093 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS1569186252 |
DMD
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy |
| RS1569186417 |
PEX26
|
Health Risk |
Conflicting classifications of pathogenicity |
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B |
| RS1569189834 |
PDHA1
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |