| RS1553920383 |
PPP3CA
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS1553922583 |
PITX2
|
Health Risk |
Pathogenic/Likely pathogenic |
ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE |
| RS1553922787 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553922891 |
PITX2
|
Health Risk |
Likely pathogenic |
Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS1553922901 |
PITX2
|
Health Risk |
Pathogenic |
Rieger anomaly, Rieger anomaly |
| RS1553923513 |
PKD2
|
Health Risk |
Pathogenic |
Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1553923787 |
PPP3CA
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy 91, Inborn genetic diseases |
| RS1553924158 |
PKD2
|
Health Risk |
Pathogenic |
— |
| RS1553924173 |
PKD2
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1553924174 |
PKD2
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1553924800 |
WDFY3
|
Health Risk |
Pathogenic |
Microcephaly 18, primary |
| RS1553925453 |
PKD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |
| RS1553925459 |
PKD2
|
Health Risk |
Pathogenic |
Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1553925467 |
PKD2
|
Health Risk |
Pathogenic |
Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1553925470 |
PKD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS1553925558 |
PPP3CA
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy 91, Seizure |
| RS1553925852 |
PKD2
|
Health Risk |
Pathogenic |
Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1553926509 |
PKD2
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |
| RS1553926529 |
PKD2
|
Health Risk |
Pathogenic |
PKD2-related disorder, PKD2-related disorder |
| RS1553926818 |
MTTP
|
Health Risk |
Pathogenic |
Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS1553926905 |
PKD2
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic kidney disease, Polycystic kidney disease |
| RS1553926929 |
PKD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, Polycystic kidney disease 2 |
| RS1553927080 |
PKD2
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |
| RS1553927436 |
PKD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease 2, Polycystic kidney disease |
| RS1553927783 |
PKD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease 2, Polycystic kidney disease |
| RS1553927823 |
PKD2
|
Health Risk |
Pathogenic |
Polycystic liver disease 1, Polycystic kidney disease |
| RS1553927840 |
MTTP
|
Health Risk |
Likely pathogenic |
Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS1553928728 |
PKD2
|
Health Risk |
Pathogenic |
— |
| RS1553928730 |
PKD2
|
Health Risk |
Pathogenic |
Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease |
| RS1553929310 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553930053 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS1553930514 |
BBS7
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1553931042 |
FAT4
|
Health Risk |
Likely pathogenic |
— |
| RS1553933367 |
ANTXR2
|
Health Risk |
Pathogenic |
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS1553933472 |
BBS7
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1553933986 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553934069 |
LIAS
|
Health Risk |
Pathogenic |
Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency |
| RS1553934187 |
NFKB1
|
Health Risk |
Pathogenic |
— |
| RS1553934199 |
LIAS
|
Health Risk |
Pathogenic |
Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency |
| RS1553934395 |
NFKB1
|
Health Risk |
Likely pathogenic |
— |
| RS1553934562 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS1553934586 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553934597 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553934697 |
AFG2A
|
Health Risk |
Likely pathogenic |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS1553934752 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1553936898 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553937522 |
CYP2U1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS1553937650 |
NFKB1
|
Health Risk |
Pathogenic |
— |
| RS1553937967 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553938571 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553938888 |
NFKB1
|
Health Risk |
Pathogenic |
— |
| RS1553939161 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553939284 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553939600 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS1553939605 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553939638 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553939648 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553939660 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553939675 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553939749 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S |
| RS1553939774 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553939806 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553940079 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940122 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553940172 |
SGCB
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940262 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940274 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940660 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940661 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940663 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940687 |
SGCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940935 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1553940957 |
SGCB
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940963 |
SGCB
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy |
| RS1553941255 |
BBS12
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1553941258 |
BBS12
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1553941279 |
BBS12
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1553941304 |
BBS12
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 12, Retinal dystrophy |
| RS1553941312 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1553941369 |
BBS12
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1553941391 |
BBS12
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1553941404 |
BBS12
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1553941433 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1553941540 |
BBS12
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12 |
| RS1553941580 |
BBS12
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1553941743 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS1553941890 |
BMPR1B
|
Health Risk |
Pathogenic |
Acromesomelic dysplasia 2B, Type A2 brachydactyly |
| RS1553941938 |
GRXCR1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS1553945794 |
MANBA
|
Health Risk |
Likely pathogenic |
Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1553946656 |
MFSD8
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS1553947423 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553948361 |
MANBA
|
Health Risk |
Pathogenic/Likely pathogenic |
Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1553948395 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553948516 |
SCARB2
|
Health Risk |
Pathogenic |
Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS1553950197 |
MFSD8
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement |
| RS1553950635 |
GAB1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 26, Autosomal recessive nonsyndromic hearing loss 26 |
| RS1553950874 |
MFSD8
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7 |
| RS1553955672 |
AFG2A
|
Health Risk |
Pathogenic |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS1553956151 |
LRBA
|
Health Risk |
Likely pathogenic |
— |
| RS1553956958 |
GRIA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |