| RS1575923363 |
VHL
|
Health Risk |
Likely pathogenic |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS1575927648 |
VHL
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS1575927767 |
VHL
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Chuvash polycythemia |
| RS1575932011 |
VHL
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Pheochromocytoma |
| RS1575932228 |
VHL
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575932266 |
VHL
|
Health Risk |
Pathogenic |
Papillary renal cell carcinoma type 1, Cerebellar hemangioblastoma |
| RS1575932781 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS1575944638 |
NDUFS1
|
Health Risk |
Likely pathogenic |
— |
| RS1575948935 |
TTN
|
Health Risk |
Likely pathogenic |
Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS1575960197 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575960580 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575989549 |
SLC25A20
|
Health Risk |
Pathogenic |
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS1575992941 |
SLC25A20
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS1576005420 |
MITF
|
Health Risk |
Likely pathogenic |
Tietz syndrome, Tietz syndrome |
| RS1576007776 |
MITF
|
Health Risk |
Conflicting classifications of pathogenicity |
Tietz syndrome, Melanoma |
| RS1576014673 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576014780 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576014979 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1576015923 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576016842 |
EEF1B2
|
Health Risk |
Pathogenic |
Intellectual disability, Moderate global developmental delay |
| RS1576018303 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Dilated cardiomyopathy 1G |
| RS1576028676 |
FOXP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1576047519 |
MITF
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 2A, Waardenburg syndrome type 2A |
| RS1576066084 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576072384 |
TTN
|
Health Risk |
Pathogenic |
— |
| RS1576074651 |
TMEM63A
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukodystrophy, hypomyelinating |
| RS1576077909 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576080546 |
TMEM63A
|
Health Risk |
Pathogenic |
Leukodystrophy, hypomyelinating |
| RS1576086299 |
PGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS1576086329 |
NSUN3
|
Health Risk |
Likely pathogenic |
— |
| RS1576086839 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1576089893 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576101665 |
TMEM63A
|
Health Risk |
Pathogenic |
Leukodystrophy, hypomyelinating |
| RS1576125620 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576129421 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1576141328 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS1576147786 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576164991 |
PGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS1576170616 |
PROS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Protein S deficiency disease, Thrombophilia due to protein S deficiency |
| RS1576170618 |
PROS1
|
Health Risk |
Pathogenic |
Protein S deficiency disease, Protein S deficiency disease |
| RS1576173175 |
PROS1
|
Health Risk |
Likely pathogenic |
Protein S deficiency disease, Protein S deficiency disease |
| RS1576175491 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1576176794 |
PROS1
|
Health Risk |
Likely pathogenic |
Protein S deficiency disease, Protein S deficiency disease |
| RS1576180176 |
PROS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Protein S deficiency disease, Thrombophilia due to protein S deficiency |
| RS1576180280 |
PROS1
|
Health Risk |
Likely pathogenic |
Protein S deficiency disease, Protein S deficiency disease |
| RS1576182838 |
PROS1
|
Health Risk |
Pathogenic |
Protein S deficiency disease, Protein S deficiency disease |
| RS1576182848 |
PROS1
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS1576183537 |
GBE1
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type IV |
| RS1576186406 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576189036 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Hematuria |
| RS1576198449 |
PROS1
|
Health Risk |
Pathogenic |
— |
| RS1576203003 |
H3-3A
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, Brain imaging abnormality |
| RS1576203853 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1576207007 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Benign familial hematuria |
| RS1576219706 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS1576220405 |
ZBTB20
|
Health Risk |
Conflicting classifications of pathogenicity |
Primrose syndrome, Intellectual disability |
| RS1576220750 |
ZBTB20
|
Health Risk |
Likely pathogenic |
Marfanoid habitus and intellectual disability, Primrose syndrome |
| RS1576220876 |
ZBTB20
|
Health Risk |
Pathogenic |
Primrose syndrome, Primrose syndrome |
| RS1576220938 |
ZBTB20
|
Health Risk |
Pathogenic |
Intellectual disability, Primrose syndrome |
| RS1576220959 |
ZBTB20
|
Health Risk |
Likely pathogenic |
— |
| RS1576222015 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS1576222803 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS1576222807 |
IFIH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7 |
| RS1576222845 |
IFIH1
|
Health Risk |
Likely pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS1576224269 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS1576226604 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 |
| RS1576226728 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS1576227162 |
IFIH1
|
Health Risk |
Likely pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS1576229572 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 |
| RS1576238292 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS1576240126 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576243308 |
IFIH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 |
| RS1576247054 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS1576251664 |
TTN
|
Health Risk |
Likely pathogenic |
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576280892 |
ZBTB20
|
Health Risk |
Pathogenic |
Primrose syndrome, Intellectual disability |
| RS1576280941 |
ZBTB20
|
Health Risk |
Likely pathogenic |
Primrose syndrome, Primrose syndrome |
| RS1576283052 |
ZBTB20
|
Health Risk |
Likely pathogenic |
— |
| RS1576286971 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1576288424 |
ZBTB20
|
Health Risk |
Pathogenic/Likely pathogenic |
Primrose syndrome, Intellectual disability |
| RS1576289072 |
HGD
|
Health Risk |
Pathogenic |
Alkaptonuria, Alkaptonuria |
| RS1576294110 |
HGD
|
Health Risk |
Likely pathogenic |
Alkaptonuria, Alkaptonuria |
| RS1576297857 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576304176 |
RAB7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B |
| RS1576304776 |
CPOX
|
Health Risk |
Likely pathogenic |
Harderoporphyria, Hereditary coproporphyria |
| RS1576306536 |
CPOX
|
Health Risk |
Pathogenic |
Hereditary coproporphyria, Hereditary coproporphyria |
| RS1576306935 |
CPOX
|
Health Risk |
Pathogenic |
— |
| RS1576323463 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1576327011 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1576327348 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576337935 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1576340321 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576344664 |
ACAD9
|
Health Risk |
Pathogenic |
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1576347955 |
ACAD9
|
Health Risk |
Pathogenic |
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1576352885 |
MSL2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autism, Karayol-Borroto-Haghshenas neurodevelopmental syndrome |
| RS1576359214 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1576359216 |
MRAS
|
Health Risk |
Likely pathogenic |
Noonan syndrome 11, RASopathy |
| RS1576360488 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1576360539 |
PCCB
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1576360934 |
PCCB
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1576361811 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |