| RS1559264524 |
PAX3
|
Health Risk |
Pathogenic |
— |
| RS1559267059 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1559268818 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559272130 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1559279159 |
HJV
|
Health Risk |
Pathogenic |
— |
| RS1559279177 |
HJV
|
Health Risk |
Pathogenic |
Hemochromatosis type 2A, Hemochromatosis type 2A |
| RS1559280064 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1559280338 |
HJV
|
Health Risk |
Likely pathogenic |
Hemochromatosis type 2A, Hemochromatosis type 2A |
| RS1559281733 |
SUMF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1559284497 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1559284676 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559289518 |
DCAF17
|
Health Risk |
Likely pathogenic |
— |
| RS1559289651 |
DCAF17
|
Health Risk |
Pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1559296368 |
ZNF142
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements |
| RS1559296376 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1559301344 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559302834 |
CHRNG
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1559303793 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS1559304988 |
CHRNG
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1559307932 |
PDE6D
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 22, Joubert syndrome 22 |
| RS1559309659 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1559310284 |
GLS
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 71 |
| RS1559314812 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1559316535 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559316542 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559316590 |
BCS1L
|
Health Risk |
Likely pathogenic |
Pili torti-deafness syndrome, Pili torti-deafness syndrome |
| RS1559317208 |
BCS1L
|
Health Risk |
Pathogenic/Likely pathogenic |
Pili torti-deafness syndrome, GRACILE syndrome |
| RS1559318494 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 3, Waardenburg syndrome type 3 |
| RS1559318562 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559320252 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559320299 |
PAX3
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559320436 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS1559320516 |
CRYGC
|
Health Risk |
Likely pathogenic |
CRYGC-related disorder, CRYGC-related disorder |
| RS1559321340 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS1559327071 |
IL17RC
|
Health Risk |
Conflicting classifications of pathogenicity |
Candidiasis, familial |
| RS1559328006 |
ZAP70
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS1559328283 |
PGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS1559330805 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1559332542 |
PER2
|
Health Risk |
Pathogenic |
Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1 |
| RS1559332999 |
CUL3
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS1559337563 |
CRELD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Atrioventricular septal defect, susceptibility to |
| RS1559346318 |
PGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS1559348938 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559352440 |
DES
|
Health Risk |
Pathogenic |
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS1559352517 |
SCN2A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS1559352550 |
SCN2A
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS1559352868 |
DES
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome |
| RS1559353540 |
SCN2A
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS1559355268 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559356254 |
CASP8
|
Health Risk |
Likely pathogenic |
Lung cancer, Lung cancer |
| RS1559359546 |
FASTKD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS1559359985 |
TMEM43
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5 |
| RS1559360386 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1559361049 |
D2HGDH
|
Health Risk |
Pathogenic |
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1559362000 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559363695 |
TMEM43
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5 |
| RS1559364892 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1559364994 |
D2HGDH
|
Health Risk |
Likely pathogenic |
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1559365985 |
PJVK
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59 |
| RS1559366000 |
PJVK
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59 |
| RS1559366084 |
PJVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Deafness, Hearing loss |
| RS1559368995 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559369237 |
XPC
|
Health Risk |
Pathogenic/Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1559370502 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 1, Brugada syndrome 1 |
| RS1559371613 |
PJVK
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59 |
| RS1559371635 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1559372004 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1559372027 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1559372357 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1559372512 |
PJVK
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 59, Hearing loss |
| RS1559372578 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1559372640 |
PJVK
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59 |
| RS1559372682 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1559374786 |
CASP8
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B |
| RS1559374923 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1559376694 |
SCN2A
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1559378059 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrhythmia, Cardiac arrhythmia |
| RS1559378965 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559382080 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559384522 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS1559385898 |
GLB1
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS1559385963 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS1559386134 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1559387024 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1559387297 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1559388949 |
THRB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperthyroidism, Hyperthyroidism |
| RS1559390679 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1559390743 |
TRAK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 68 |
| RS1559391390 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS1559391480 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, Cardiovascular phenotype |
| RS1559392331 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS1559392634 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS1559392904 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS1559393934 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1559394354 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559394355 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559395026 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary breast ovarian cancer syndrome |
| RS1559395617 |
COL4A4
|
Health Risk |
Pathogenic |
Alport syndrome, Alport syndrome |
| RS1559396675 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS1559399574 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |