| RS1060499640 |
FH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary leiomyomatosis and renal cell cancer, FH-related disorder |
| RS1060499641 |
FH
|
Health Risk |
Pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS1060499642 |
FH
|
Health Risk |
Likely pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS1060499643 |
FH
|
Health Risk |
Pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS1060499644 |
FH
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS1060499645 |
FH
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS1060499646 |
TRPM6
|
Health Risk |
Likely pathogenic |
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS1060499647 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1060499649 |
TJP2
|
Health Risk |
Likely pathogenic |
Cholestasis, progressive familial intrahepatic |
| RS1060499651 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2 |
| RS1060499652 |
NEXMIF
|
Health Risk |
Pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS1060499653 |
PLP1
|
Health Risk |
Pathogenic |
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1060499654 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1060499655 |
ZBTB18
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 22 |
| RS1060499656 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1060499657 |
UMOD
|
Health Risk |
Likely pathogenic |
Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1060499658 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1060499659 |
GRIN2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 27 |
| RS1060499660 |
IQSEC2
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 1 |
| RS1060499661 |
KDM5C
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS1060499662 |
LIG4
|
Health Risk |
Likely pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS1060499663 |
FGFR1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS1060499665 |
KDM6A
|
Health Risk |
Likely pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS1060499666 |
PIGA
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1060499667 |
VAC14
|
Health Risk |
Likely pathogenic |
Yunis-Varon syndrome, Yunis-Varon syndrome |
| RS1060499668 |
ARID1B
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Coffin-Siris syndrome 1 |
| RS1060499669 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS1060499670 |
SPAST
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia |
| RS1060499672 |
AP1S2
|
Health Risk |
Pathogenic |
Pettigrew syndrome, Pettigrew syndrome |
| RS1060499673 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS1060499676 |
TSC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tuberous sclerosis 2, Lymphangiomyomatosis |
| RS1060499679 |
GNPTAB
|
Health Risk |
Likely pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS1060499680 |
GNPTAB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS1060499681 |
GNPTAB
|
Health Risk |
Likely pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS1060499684 |
GNPTAB
|
Health Risk |
Likely pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS1060499685 |
GNPTAB
|
Health Risk |
Likely pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS1060499687 |
GNPTAB
|
Health Risk |
Likely pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS1060499688 |
GNPTAB
|
Health Risk |
Likely pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS1060499689 |
GNPTAB
|
Health Risk |
Likely pathogenic |
Mucolipidosis type II, Pseudo-Hurler polydystrophy |
| RS1060499690 |
GNPTG
|
Health Risk |
Likely pathogenic |
GNPTG-mucolipidosis, Mucolipidosis |
| RS1060499691 |
GNPTG
|
Health Risk |
Likely pathogenic |
GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS1060499692 |
GHR
|
Health Risk |
Pathogenic |
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS1060499694 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS1060499695 |
THRB
|
Health Risk |
Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS1060499696 |
COL4A3
|
Health Risk |
Pathogenic |
Hematuria, benign familial |
| RS1060499697 |
SLC34A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS1060499699 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS1060499701 |
HEXB
|
Health Risk |
Pathogenic |
Sandhoff disease, Sandhoff disease |
| RS1060499702 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS1060499703 |
NPHS2
|
Health Risk |
Pathogenic |
Nephrotic syndrome, type 2 |
| RS1060499704 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS1060499708 |
DGKE
|
Health Risk |
Pathogenic |
Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1060499709 |
DGKE
|
Health Risk |
Likely pathogenic |
Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1060499710 |
COL4A5
|
Health Risk |
Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS1060499714 |
CDH23
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1D, Pituitary adenoma 5 |
| RS1060499715 |
BCKDHB
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS1060499716 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS1060499717 |
FOXL2
|
Health Risk |
Pathogenic |
Blepharophimosis, ptosis |
| RS1060499718 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS1060499724 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS1060499726 |
FBP1
|
Health Risk |
Pathogenic |
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1060499728 |
MYH8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hecht syndrome, Hecht syndrome |
| RS1060499733 |
DHX30
|
Health Risk |
Pathogenic |
7 conditions, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS1060499734 |
VARS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Abnormal brain morphology, Neurodevelopmental disorder with microcephaly |
| RS1060499735 |
CPLX1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Developmental and epileptic encephalopathy |
| RS1060499736 |
SMARCA1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499737 |
DHX37
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies |
| RS1060499738 |
ACTL6B
|
Health Risk |
Likely pathogenic |
Intellectual disability, Global developmental delay |
| RS1060499739 |
CEP97
|
Health Risk |
Likely pathogenic |
Global developmental delay, Intellectual disability |
| RS1060499740 |
CINP
|
Health Risk |
Likely pathogenic |
Intellectual disability, Seizure |
| RS1060499742 |
ANK3
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499743 |
ARHGAP21
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499744 |
ASH2L
|
Health Risk |
Likely pathogenic |
Global developmental delay, Intellectual disability |
| RS1060499745 |
CDK10
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499746 |
GTF3C1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499747 |
HELZ
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499748 |
KLHL15
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499749 |
PTPRT
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499750 |
SLITRK5
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499751 |
SNAPIN
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, See cases |
| RS1060499752 |
TTC1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499753 |
UBQLN1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499754 |
ULK2
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499755 |
ALDH7A1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Pyridoxine-dependent epilepsy |
| RS1060499756 |
AP4B1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Spastic paraplegia |
| RS1060499757 |
ASPM
|
Health Risk |
Likely pathogenic |
Microcephaly, Microcephaly |
| RS1060499758 |
ASPM
|
Health Risk |
Likely pathogenic |
Microcephaly, Microcephaly |
| RS1060499759 |
ATRX
|
Health Risk |
Likely pathogenic |
Global developmental delay, Microcephaly |
| RS1060499760 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, Global developmental delay |
| RS1060499761 |
GALC
|
Health Risk |
Conflicting classifications of pathogenicity |
Abnormal brain morphology, Galactosylceramide beta-galactosidase deficiency |
| RS1060499762 |
LARP7
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Microcephalic primordial dwarfism |
| RS1060499763 |
PIGN
|
Health Risk |
Conflicting classifications of pathogenicity |
Abnormal brain morphology, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1060499764 |
PLA2G6
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Infantile neuroaxonal dystrophy |
| RS1060499765 |
PLCB1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499766 |
POMT2
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499768 |
SPG11
|
Health Risk |
Pathogenic |
Abnormal brain morphology, Hereditary spastic paraplegia 11 |
| RS1060499769 |
SYNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Abnormal brain morphology, Emery-Dreifuss muscular dystrophy 4 |
| RS1060499770 |
ZEB2
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |
| RS1060499771 |
AP4B1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Spastic paraplegia |
| RS1060499772 |
DARS1
|
Health Risk |
Likely pathogenic |
Abnormal brain morphology, Abnormal brain morphology |