| RS1553595997 |
BCS1L
|
Health Risk |
Likely pathogenic |
GRACILE syndrome, GRACILE syndrome |
| RS1553596392 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1553596594 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553596638 |
BCS1L
|
Health Risk |
Pathogenic/Likely pathogenic |
GRACILE syndrome, Pili torti-deafness syndrome |
| RS1553596761 |
BCS1L
|
Health Risk |
Likely pathogenic |
GRACILE syndrome, GRACILE syndrome |
| RS1553596929 |
BCS1L
|
Health Risk |
Likely pathogenic |
GRACILE syndrome, GRACILE syndrome |
| RS1553596996 |
BCS1L
|
Health Risk |
Likely pathogenic |
GRACILE syndrome, GRACILE syndrome |
| RS1553597198 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553597538 |
BCS1L
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553597801 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1553597934 |
BCS1L
|
Health Risk |
Likely pathogenic |
GRACILE syndrome, Pili torti-deafness syndrome |
| RS1553598145 |
BCS1L
|
Health Risk |
Likely pathogenic |
GRACILE syndrome, GRACILE syndrome |
| RS1553600058 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553600601 |
CRELD1
|
Health Risk |
Likely pathogenic |
— |
| RS1553601017 |
TTN
|
Health Risk |
Likely pathogenic |
6 conditions, Cardiovascular phenotype |
| RS1553601066 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553601319 |
PJVK
|
Health Risk |
Pathogenic |
— |
| RS1553602498 |
CUL3
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Neurodevelopmental delay |
| RS1553602546 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS1553602821 |
TRIP12
|
Health Risk |
Pathogenic |
Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS1553602978 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1553603036 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Dilated cardiomyopathy 1G |
| RS1553603152 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Primary dilated cardiomyopathy |
| RS1553603239 |
DES
|
Health Risk |
Pathogenic |
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS1553603364 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1553603394 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1553603400 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553603437 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553603438 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553603456 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553603530 |
DES
|
Health Risk |
Conflicting classifications of pathogenicity |
Desmin-related myofibrillar myopathy, Cardiovascular phenotype |
| RS1553603566 |
DES
|
Health Risk |
Likely pathogenic |
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome |
| RS1553603571 |
DES
|
Health Risk |
Conflicting classifications of pathogenicity |
Desmin-related myofibrillar myopathy, Cardiovascular phenotype |
| RS1553603640 |
TMEM43
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5 |
| RS1553603690 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553603732 |
DES
|
Health Risk |
Pathogenic |
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS1553603933 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553603958 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553604251 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553604316 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553604549 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553604552 |
XPC
|
Health Risk |
Pathogenic/Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553604559 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS1553604563 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1553604570 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS1553604620 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553604677 |
GLB1
|
Health Risk |
Likely pathogenic |
Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS1553604869 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553605023 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605154 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553605497 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605553 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553605655 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605667 |
SCN5A
|
Health Risk |
Pathogenic |
— |
| RS1553605761 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605795 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605805 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605813 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605871 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605894 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605932 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Brugada syndrome 1 |
| RS1553605973 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553605995 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553606091 |
GLB1
|
Health Risk |
Likely pathogenic |
Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS1553606128 |
GLB1
|
Health Risk |
Pathogenic |
GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1553606130 |
GLB1
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS1553606400 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1553606767 |
XPC
|
Health Risk |
Pathogenic/Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553606979 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553606984 |
GLB1
|
Health Risk |
Pathogenic |
GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1553607014 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2 |
| RS1553607144 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS1553607419 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553607425 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS1553607505 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553607561 |
SCN5A
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1553607562 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553607597 |
SCN5A
|
Health Risk |
Pathogenic |
Cardiac arrhythmia, Brugada syndrome 1 |
| RS1553607671 |
FANCD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group D2 |
| RS1553607672 |
SCN5A
|
Health Risk |
Likely pathogenic |
— |
| RS1553607744 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553607773 |
XPC
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553607935 |
TTN
|
Health Risk |
Pathogenic |
— |
| RS1553608221 |
MARS2
|
Health Risk |
Pathogenic |
Spastic ataxia 3, Spastic ataxia 3 |
| RS1553608616 |
XPC
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group C |
| RS1553608621 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553608637 |
XPC
|
Health Risk |
Pathogenic/Likely pathogenic |
Xeroderma pigmentosum, group C |
| RS1553608700 |
TTN
|
Health Risk |
Pathogenic |
— |
| RS1553608726 |
TRAK1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553608812 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS1553609090 |
THRB
|
Health Risk |
Pathogenic/Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS1553609119 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS1553609137 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1553609152 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS1553609157 |
THRB
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553609167 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS1553609179 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS1553609185 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance syndrome, Thyroid hormone resistance |
| RS1553609195 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS1553609210 |
THRB
|
Health Risk |
Pathogenic/Likely pathogenic |
Thyroid hormone resistance, generalized |