| RS1772645594 |
BCKDHB
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS1772679892 |
SKIC2
|
Health Risk |
Pathogenic |
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS1772684260 |
RARS2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS1772690053 |
COL11A2
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1772735425 |
BCKDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS1772736212 |
BCKDHB
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS1772747003 |
BCKDHB
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1772747408 |
BCKDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease type 1A |
| RS1772764456 |
KDM2B
|
Health Risk |
Pathogenic |
— |
| RS1772774219 |
SKIC2
|
Health Risk |
Pathogenic |
— |
| RS1772815896 |
COL11A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Otospondylomegaepiphyseal dysplasia, autosomal recessive |
| RS1772820423 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1772839282 |
SKIC2
|
Health Risk |
Likely pathogenic |
— |
| RS1772848223 |
SKIC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS1772880607 |
MAK
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1772902148 |
BCKDHB
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease type 1B |
| RS1772907934 |
ZNF292
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Inborn genetic diseases |
| RS1772953161 |
MEF2C
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS1772961410 |
NUS1
|
Health Risk |
Likely pathogenic |
— |
| RS1772963498 |
NUS1
|
Health Risk |
Pathogenic |
Congenital disorder of glycosylation, type IAA |
| RS1772975334 |
NUS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 55 |
| RS1772989743 |
SKIC2
|
Health Risk |
Pathogenic |
— |
| RS1773017329 |
SKIC2
|
Health Risk |
Likely pathogenic |
— |
| RS1773157863 |
MAK
|
Health Risk |
Pathogenic |
— |
| RS1773160727 |
MAK
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1773163926 |
DNAH5
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS1773204992 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS1773207732 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS1773247172 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1773262818 |
COL9A1
|
Health Risk |
Likely pathogenic |
— |
| RS1773264138 |
NUS1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1773264504 |
NUS1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 55 |
| RS1773276850 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Muscular dystrophy |
| RS1773279785 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS1773282962 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Muscular dystrophy |
| RS1773283124 |
NUS1
|
Health Risk |
Likely pathogenic |
— |
| RS1773283278 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Muscular dystrophy |
| RS1773291512 |
LAMA2
|
Health Risk |
Likely pathogenic |
LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS1773402352 |
RARS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS1773460199 |
NUS1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 55 |
| RS1773460504 |
NUS1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 55 |
| RS1773467460 |
ARG1
|
Health Risk |
Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773502803 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Muscular dystrophy |
| RS1773614673 |
POPDC1
|
Health Risk |
Likely pathogenic |
— |
| RS1773706886 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS17737379 |
TRDN
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS1773759539 |
PHIP
|
Health Risk |
Likely pathogenic |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1773782306 |
ARG1
|
Health Risk |
Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773783170 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773790103 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773793203 |
PHIP
|
Health Risk |
Likely pathogenic |
— |
| RS1773798418 |
PHIP
|
Health Risk |
Pathogenic/Likely pathogenic |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1773811703 |
RARS2
|
Health Risk |
Likely pathogenic |
— |
| RS1773827322 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773829495 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773877563 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773880008 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773884764 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773898086 |
GJA1
|
Health Risk |
Pathogenic |
Oculodentodigital dysplasia, autosomal recessive |
| RS1773898234 |
GJA1
|
Health Risk |
Pathogenic |
Oculodentodigital dysplasia, autosomal recessive |
| RS1773898476 |
GJA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1773898804 |
GJA1
|
Health Risk |
Pathogenic |
Oculodentodigital dysplasia, Oculodentodigital dysplasia |
| RS1773899790 |
GJA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Oculodentodigital dysplasia, autosomal recessive |
| RS1773900443 |
GJA1
|
Health Risk |
Pathogenic |
Oculodentodigital dysplasia, autosomal recessive |
| RS1773901440 |
GJA1
|
Health Risk |
Likely pathogenic |
Oculodentodigital dysplasia, autosomal recessive |
| RS1773903559 |
GJA1
|
Health Risk |
Likely pathogenic |
Atrioventricular septal defect and common atrioventricular junction, Atrioventricular septal defect and common atrioventricular junction |
| RS1773906992 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773907180 |
GJA1
|
Health Risk |
Likely pathogenic |
Oculodentodigital dysplasia, autosomal recessive |
| RS1773910245 |
ARG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773910389 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773915383 |
ARG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773916575 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1773935759 |
BLTP1
|
Health Risk |
Pathogenic |
Right aortic arch, Hemivertebrae |
| RS1773952432 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773952713 |
ETFDH
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773954366 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773956317 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773973345 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773974277 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773986769 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1774006330 |
COL9A1
|
Health Risk |
Pathogenic |
— |
| RS1774022406 |
ARG1
|
Health Risk |
Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1774035827 |
ARG1
|
Health Risk |
Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1774036379 |
ARG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1774044564 |
ARG1
|
Health Risk |
Pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1774044680 |
ARG1
|
Health Risk |
Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1774059448 |
ARG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS1774086195 |
COL9A1
|
Health Risk |
Likely pathogenic |
— |
| RS1774099032 |
PEX7
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS1774102216 |
PEX7
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS1774173253 |
PPIL1
|
Health Risk |
Likely pathogenic |
Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia |
| RS1774193359 |
PEX7
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS1774226763 |
CEP85L
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly 10, Posterior Predominant Lissencephaly |
| RS1774227158 |
CEP85L
|
Health Risk |
Pathogenic |
Posterior Predominant Lissencephaly, Neurodevelopmental disorder |
| RS1774228815 |
CEP85L
|
Health Risk |
Likely pathogenic |
Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly |
| RS1774228957 |
CEP85L
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly 10, Posterior Predominant Lissencephaly |
| RS1774229245 |
CEP85L
|
Health Risk |
Likely pathogenic |
Lissencephaly 10, Posterior Predominant Lissencephaly |
| RS1774230017 |
PHIP
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1774230502 |
CEP85L
|
Health Risk |
Likely pathogenic |
Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly |
| RS1774283406 |
PHIP
|
Health Risk |
Pathogenic |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |