| RS587777385 |
ACTG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 |
| RS587777386 |
ACTG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Visceral myopathy 1, Visceral neuropathy |
| RS587777387 |
ACTG2
|
Health Risk |
Pathogenic |
Visceral myopathy 1, Inborn genetic diseases |
| RS587777388 |
ACTG2
|
Health Risk |
Pathogenic/Likely pathogenic |
Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 |
| RS587777389 |
PIK3CD
|
Health Risk |
Pathogenic |
Immunodeficiency 14, PIK3CD-related disorder |
| RS587777390 |
PIK3CD
|
Health Risk |
Likely pathogenic |
Immunodeficiency 14, Immunodeficiency 14 |
| RS587777391 |
AMPD2
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS587777392 |
AMPD2
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 9, Pontoneocerebellar hypoplasia |
| RS587777393 |
AMPD2
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS587777394 |
AMPD2
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS587777395 |
AMPD2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63 |
| RS587777396 |
PIGA
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1 |
| RS587777397 |
PIGA
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS587777398 |
PIGA
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Neurodevelopmental disorder with epilepsy and hemochromatosis |
| RS587777399 |
PIGA
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with epilepsy and hemochromatosis, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS587777400 |
PIGA
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS587777401 |
PGM1
|
Health Risk |
Pathogenic |
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation |
| RS587777402 |
PGM1
|
Health Risk |
Pathogenic |
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation |
| RS587777403 |
PGM1
|
Health Risk |
Conflicting classifications of pathogenicity |
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation |
| RS587777404 |
PGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
PGM1-congenital disorder of glycosylation, PGM1-related disorder |
| RS587777405 |
PGM1
|
Health Risk |
Pathogenic |
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation |
| RS587777406 |
DEAF1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 24 |
| RS587777408 |
DEAF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 24 |
| RS587777409 |
DEAF1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 24 |
| RS587777410 |
UQCC2
|
Health Risk |
Pathogenic |
Mitochondrial complex III deficiency nuclear type 7, Mitochondrial complex III deficiency nuclear type 7 |
| RS587777411 |
WASHC4
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 43 |
| RS587777412 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS587777413 |
PGM3
|
Health Risk |
Likely pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS587777414 |
PGM3
|
Health Risk |
Pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS587777415 |
PGM3
|
Health Risk |
Pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS587777416 |
PGM3
|
Health Risk |
Pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS587777417 |
MTFMT
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS587777418 |
MTFMT
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS587777419 |
MTFMT
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS587777420 |
NECAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 21 |
| RS587777422 |
NKX2-6
|
Health Risk |
Likely pathogenic |
Conotruncal heart malformations, Conotruncal heart malformations |
| RS587777423 |
POMK
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS587777424 |
GRXCR2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 101, Autosomal recessive nonsyndromic hearing loss 101 |
| RS587777425 |
DCAF8
|
Health Risk |
Likely pathogenic |
Giant axonal neuropathy 2, Giant axonal neuropathy 2 |
| RS587777427 |
TAF4B
|
Health Risk |
Pathogenic |
Spermatogenic failure 13, Spermatogenic failure 13 |
| RS587777428 |
TUBB4A
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypomyelinating leukodystrophy 6, Torsion dystonia 4 |
| RS587777429 |
TUBB4A
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypomyelinating leukodystrophy 6, Inborn genetic diseases |
| RS587777430 |
TNPO3
|
Health Risk |
Pathogenic |
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS587777431 |
TNPO3
|
Health Risk |
Pathogenic |
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS587777432 |
ZMYND15
|
Health Risk |
Pathogenic |
Spermatogenic failure 14, Spermatogenic failure 14 |
| RS587777433 |
LYRM7
|
Health Risk |
Pathogenic |
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS587777434 |
SLC35A2
|
Health Risk |
Pathogenic |
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587777435 |
SLC35A2
|
Health Risk |
Pathogenic |
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587777436 |
SLC35A2
|
Health Risk |
Pathogenic |
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587777437 |
KCNJ5
|
Health Risk |
Pathogenic |
Familial hyperaldosteronism type III, Long QT syndrome |
| RS587777438 |
KCNJ5
|
Health Risk |
Pathogenic |
Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS587777439 |
KCNJ5
|
Health Risk |
Pathogenic |
Familial hyperaldosteronism type III, Familial hyperaldosteronism type III |
| RS587777440 |
TPI1
|
Health Risk |
Pathogenic |
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS587777441 |
TPI1
|
Health Risk |
Likely pathogenic |
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS587777442 |
HSD17B4
|
Health Risk |
Conflicting classifications of pathogenicity |
Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS587777443 |
HSD17B4
|
Health Risk |
Pathogenic/Likely pathogenic |
Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS587777444 |
HSD17B4
|
Health Risk |
Conflicting classifications of pathogenicity |
Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency |
| RS587777445 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 |
| RS587777446 |
IFIH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Aicardi-Goutieres syndrome 7, 7 conditions |
| RS587777447 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS587777448 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 |
| RS587777449 |
IFIH1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7 |
| RS587777450 |
PIEZO2
|
Health Risk |
Pathogenic |
Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
| RS587777451 |
PIEZO2
|
Health Risk |
Pathogenic/Likely pathogenic |
Marden-Walker syndrome, Gordon syndrome |
| RS587777452 |
PIEZO2
|
Health Risk |
Likely pathogenic |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome |
| RS587777453 |
PIEZO2
|
Health Risk |
Pathogenic/Likely pathogenic |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Inborn genetic diseases |
| RS587777454 |
PIEZO2
|
Health Risk |
Pathogenic |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
| RS587777455 |
GLI2
|
Health Risk |
Pathogenic |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS587777456 |
GLI2
|
Health Risk |
Pathogenic |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS587777457 |
MAOA
|
Health Risk |
Pathogenic |
Brunner syndrome, Brunner syndrome |
| RS587777458 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS587777459 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS587777460 |
SMARCA4
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS587777461 |
SMARCA4
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS587777462 |
SMARCA4
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS587777463 |
SMARCA4
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS587777464 |
SMARCA4
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS587777465 |
VPS53
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E |
| RS587777466 |
VPS53
|
Health Risk |
Pathogenic/Likely pathogenic |
Pontocerebellar hypoplasia type 2E, Pontoneocerebellar hypoplasia |
| RS587777467 |
TUBB4A
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6 |
| RS587777468 |
TUBB4A
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6 |
| RS587777469 |
TTLL5
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 19, Cone-rod dystrophy |
| RS587777470 |
TTLL5
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS587777471 |
TTLL5
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 19, Cone-rod dystrophy 19 |
| RS587777472 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS587777473 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS587777476 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Neoplasm |
| RS587777477 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS587777478 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS587777480 |
SOX11
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| RS587777483 |
PHGDH
|
Health Risk |
Conflicting classifications of pathogenicity |
Neu-Laxova syndrome 1, PHGDH deficiency |
| RS587777484 |
DOCK7
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 23 |
| RS587777485 |
DOCK7
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 23 |
| RS587777486 |
CEP83
|
Health Risk |
Pathogenic |
Nephronophthisis 18, Nephronophthisis 18 |
| RS587777487 |
CEP83
|
Health Risk |
Pathogenic |
Nephronophthisis 18, Nephronophthisis 18 |
| RS587777488 |
CEP83
|
Health Risk |
Pathogenic |
Nephronophthisis 18, Nephronophthisis 18 |
| RS587777489 |
PHF6
|
Health Risk |
Pathogenic |
Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome |
| RS587777490 |
SNX10
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8 |
| RS587777491 |
HCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS587777492 |
HCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 24 |