| RS180177481 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome |
| RS180177484 |
NLRP3
|
Health Risk |
Pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177486 |
NLRP3
|
Health Risk |
Likely pathogenic |
Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome |
| RS180177491 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177493 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177501 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177503 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS1801846606 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1801847909 |
WRN
|
Health Risk |
Pathogenic |
— |
| RS1801859348 |
WRN
|
Health Risk |
Likely pathogenic |
Werner syndrome, Werner syndrome |
| RS1801868524 |
CASP2
|
Health Risk |
Pathogenic |
Intellectual developmental disorder, autosomal recessive 80 |
| RS1801882025 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1801882752 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1801933488 |
KCNH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Long QT syndrome 2 |
| RS1801933890 |
KCNH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Cardiovascular phenotype |
| RS1801935667 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1801940339 |
KCNH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 2, Long QT syndrome |
| RS1801941580 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome 2, Long QT syndrome 2 |
| RS1801949246 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS180195 |
TG
|
Health Risk |
risk factor |
Autoimmune thyroid disease, susceptibility to |
| RS1801960712 |
CSNK2B
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1801961640 |
CSNK2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1801988386 |
PKHD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS1801998818 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1802000298 |
CSNK2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1802000840 |
CSNK2B
|
Health Risk |
Likely pathogenic |
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1802001080 |
CSNK2B
|
Health Risk |
Pathogenic |
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1802018167 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1802026476 |
CSNK2B
|
Health Risk |
Pathogenic/Likely pathogenic |
See cases, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1802029655 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1802030746 |
CSNK2B
|
Health Risk |
Likely pathogenic |
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1802055133 |
CSNK2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1802055915 |
CSNK2B
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1802068057 |
PKHD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS1802073525 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1802122259 |
PKHD1
|
Health Risk |
Likely pathogenic |
— |
| RS1802132538 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS180222 |
TG
|
Health Risk |
Conflicting classifications of pathogenicity |
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect |
| RS1802222407 |
WRN
|
Health Risk |
Pathogenic/Likely pathogenic |
Werner syndrome, Werner syndrome |
| RS1802291231 |
CLCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Congenital myotonia |
| RS1802363925 |
RUNX2
|
Health Risk |
Pathogenic |
— |
| RS1802376231 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1802412684 |
EZH2
|
Health Risk |
Likely pathogenic |
Weaver syndrome, Weaver syndrome |
| RS1802414251 |
RUNX2
|
Health Risk |
Likely pathogenic |
Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1802417423 |
RUNX2
|
Health Risk |
Pathogenic |
Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1802418386 |
RUNX2
|
Health Risk |
Pathogenic |
— |
| RS1802421481 |
RUNX2
|
Health Risk |
Pathogenic |
Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1802428440 |
CLCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS1802429044 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1802442027 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1802445890 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS1802457333 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1802481729 |
HGSNAT
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 73, Mucopolysaccharidosis |
| RS1802484500 |
HGSNAT
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-C |
| RS1802495428 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS1802504786 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1802523270 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1802528906 |
CLCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myotonia, autosomal recessive form |
| RS1802608033 |
STAR
|
Health Risk |
Pathogenic |
— |
| RS1802623856 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1802626671 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1802630943 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1802645000 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1802650847 |
THAP1
|
Health Risk |
Likely pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS1802651118 |
THAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Torsion dystonia 6, Torsion dystonia 6 |
| RS1802653591 |
STAR
|
Health Risk |
Pathogenic |
— |
| RS1802654414 |
THAP1
|
Health Risk |
Likely pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS1802654548 |
LOC108863620;STAR
|
Health Risk |
Pathogenic |
— |
| RS1802672249 |
THAP1
|
Health Risk |
Pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS1802674870 |
THAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS1802694719 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1802699135 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS1802699644 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1802700924 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS1802702027 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1802702190 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1802714707 |
CLCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myotonia, autosomal dominant form |
| RS1802715644 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1802737867 |
HGSNAT
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-C |
| RS1802738210 |
HGSNAT
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-C |
| RS1802741140 |
HGSNAT
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-III-C |
| RS1802745073 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1802756440 |
THAP1
|
Health Risk |
Pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS1802760935 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS1802763171 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS1802778819 |
SLC20A2
|
Health Risk |
Likely pathogenic |
— |
| RS1802811311 |
ERLIN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Hereditary spastic paraplegia |
| RS1802887261 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1802899166 |
WRN
|
Health Risk |
Likely pathogenic |
Werner syndrome, Werner syndrome |
| RS1802974214 |
ERLIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 18, Spastic paraplegia |
| RS1803029816 |
HSPB1
|
Health Risk |
Likely pathogenic |
— |
| RS1803032912 |
NEFL
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1803033886 |
NEFL
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1803034177 |
NEFL
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1803069547 |
HSPB1
|
Health Risk |
Likely pathogenic |
— |
| RS1803069940 |
HSPB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2F, Neuronopathy |
| RS1803078013 |
WRN
|
Health Risk |
Likely pathogenic |
Werner syndrome, Werner syndrome |
| RS1803078438 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS1803091318 |
CLCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myotonia, autosomal recessive form |
| RS1803096138 |
TFR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary hemochromatosis, Hemochromatosis type 3 |