| RS1559673607 |
GBE1
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type IV |
| RS1559674534 |
TTC21A
|
Health Risk |
Pathogenic |
Spermatogenic failure 37, Spermatogenic failure 37 |
| RS1559676007 |
GBE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycogen storage disease, type IV |
| RS1559677146 |
COL4A4
|
Health Risk |
Pathogenic |
COL4A4-related disorder, COL4A4-related disorder |
| RS1559677316 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Hematuria |
| RS1559677768 |
CPOX
|
Health Risk |
Pathogenic |
Coproporphyria, Coproporphyria |
| RS1559679227 |
CPOX
|
Health Risk |
Pathogenic |
— |
| RS1559679965 |
ARL6
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 3, Retinitis pigmentosa 55 |
| RS1559680233 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS1559696193 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559696635 |
GMPPB
|
Health Risk |
Likely pathogenic |
— |
| RS1559697183 |
GMPPB
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 |
| RS1559697515 |
GMPPB
|
Health Risk |
Pathogenic |
Elevated circulating creatine kinase concentration, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS1559697587 |
GMPPB
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 |
| RS1559708295 |
TTC21A
|
Health Risk |
Pathogenic |
Spermatogenic failure 37, Spermatogenic failure 37 |
| RS1559712733 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS1559718601 |
ITPR1
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29 |
| RS1559720176 |
SCN5A
|
Health Risk |
Likely pathogenic |
— |
| RS1559720382 |
SETD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Genetic syndrome with a Dandy-Walker malformation as major feature, Luscan-Lumish syndrome |
| RS1559720870 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1559720961 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1559721331 |
SCN5A
|
Health Risk |
Pathogenic |
— |
| RS1559723511 |
DHX30
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language |
| RS1559723763 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559725687 |
SCN5A
|
Health Risk |
Pathogenic |
— |
| RS1559727734 |
SCN5A
|
Health Risk |
Likely pathogenic |
— |
| RS1559727990 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Brugada syndrome 1 |
| RS1559729142 |
SCN5A
|
Health Risk |
Likely pathogenic |
Brugada syndrome 1, Brugada syndrome 1 |
| RS1559732656 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome 1, Brugada syndrome 1 |
| RS1559738598 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Brugada syndrome (shorter-than-normal QT interval), Brugada syndrome (shorter-than-normal QT interval) |
| RS1559742015 |
COL4A4
|
Health Risk |
Pathogenic |
Benign familial hematuria, Hematuria |
| RS1559745185 |
MITF
|
Health Risk |
Pathogenic/Likely pathogenic |
Waardenburg syndrome type 2, Waardenburg syndrome type 2 |
| RS1559745565 |
SCN5A
|
Health Risk |
Pathogenic |
Cardiac arrhythmia, Cardiac arrhythmia |
| RS1559746225 |
GNAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital stationary night blindness 1G, Congenital stationary night blindness 1G |
| RS1559746821 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiovascular phenotype |
| RS1559748120 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559748217 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559749017 |
MITF
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 2A, Waardenburg syndrome type 1 |
| RS1559751245 |
MITF
|
Health Risk |
Conflicting classifications of pathogenicity |
Tietz syndrome, Waardenburg syndrome type 2A |
| RS1559756452 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1559756831 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559759089 |
ATP6V1A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS1559759828 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559767662 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1559778838 |
SCN5A
|
Health Risk |
Likely pathogenic |
— |
| RS1559781702 |
HGD
|
Health Risk |
Pathogenic |
Alkaptonuria, HGD-related disorder |
| RS1559781825 |
SCN5A
|
Health Risk |
Pathogenic |
— |
| RS1559783611 |
IQCB1
|
Health Risk |
Likely pathogenic |
Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS1559786400 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1559790127 |
HGD
|
Health Risk |
Pathogenic |
Alkaptonuria, Alkaptonuria |
| RS1559791842 |
STAG1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 47 |
| RS1559798261 |
MBD4
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1559801181 |
MBD4
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 2, Inborn genetic diseases |
| RS1559805633 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559807265 |
FOXP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1559808509 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS1559810905 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS1559823447 |
ACAD9
|
Health Risk |
Likely pathogenic |
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1559824939 |
STAG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 47 |
| RS1559828042 |
ACAD9
|
Health Risk |
Pathogenic |
— |
| RS1559832410 |
ACAD9
|
Health Risk |
Pathogenic |
— |
| RS1559834349 |
GYG1
|
Health Risk |
Pathogenic |
Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS1559834691 |
ACAD9
|
Health Risk |
Likely pathogenic |
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1559839662 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559854632 |
COL4A3;MFF-DT
|
Health Risk |
Likely pathogenic |
— |
| RS1559855146 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559855453 |
MED12L
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1559857717 |
NPRL2
|
Health Risk |
Likely pathogenic |
Epilepsy, familial focal |
| RS1559861805 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559868433 |
IFT122
|
Health Risk |
Pathogenic/Likely pathogenic |
IFT122-related disorder, Cranioectodermal dysplasia 1 |
| RS1559869525 |
IFT122
|
Health Risk |
Likely pathogenic |
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS1559870857 |
ILDR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deafness, Hearing loss |
| RS1559872489 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS1559873550 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559873786 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiovascular phenotype |
| RS1559875009 |
ILDR1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS1559875465 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559876538 |
COL4A3;MFF-DT
|
Health Risk |
Likely pathogenic |
— |
| RS1559877046 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559877920 |
TRAK1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 68 |
| RS1559878824 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Alport syndrome, Hematuria |
| RS1559878862 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Benign familial hematuria, Autosomal dominant Alport syndrome |
| RS1559882199 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1559884460 |
CACNA2D2
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1559887808 |
CACNA2D2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebellar atrophy with seizures and variable developmental delay, Early-infantile DEE |
| RS1559890140 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS1559890352 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559893935 |
COL4A3
|
Health Risk |
Pathogenic |
Alport syndrome, Alport syndrome |
| RS1559897190 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Alport syndrome, Hematuria |
| RS1559897288 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS1559899600 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hematuria, benign familial |
| RS1559899827 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Alport syndrome |
| RS1559904445 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Benign familial hematuria |
| RS1559905153 |
UMPS
|
Health Risk |
Pathogenic |
— |
| RS1559908974 |
HPS3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1559909384 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559909513 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559913871 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559914770 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559914789 |
COL4A3;MFF-DT
|
Health Risk |
Likely pathogenic |
— |