| RS1561826759 |
TUBB2B
|
Health Risk |
Likely pathogenic |
— |
| RS1561830903 |
PEX6
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS1561831003 |
PEX6
|
Health Risk |
Likely pathogenic |
Heimler syndrome 2, Heimler syndrome 2 |
| RS1561831443 |
NIPAL4
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1561831496 |
PEX6
|
Health Risk |
Conflicting classifications of pathogenicity |
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS1561831582 |
NIPAL4
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1561836628 |
DNAH8
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1561843914 |
ADGRV1
|
Health Risk |
Pathogenic |
Usher syndrome type 2C, Usher syndrome type 2C |
| RS1561846159 |
GRIA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Non-syndromic intellectual disability, Autism spectrum disorder |
| RS1561847309 |
FARS2
|
Health Risk |
Likely pathogenic |
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS1561853847 |
PNPLA1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS1561853887 |
PNPLA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 10, Lamellar ichthyosis |
| RS1561856961 |
POLR1C
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11 |
| RS1561864453 |
PNPLA1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS1561865665 |
ALDH5A1
|
Health Risk |
Pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561869239 |
ALDH5A1
|
Health Risk |
Pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561872640 |
ALDH5A1
|
Health Risk |
Pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561873941 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS1561875704 |
ITPR3
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease, demyelinating |
| RS1561875767 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS1561875779 |
MEF2C
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia |
| RS1561878500 |
NPM1
|
Health Risk |
Pathogenic |
Acute myeloid leukemia, Acute myeloid leukemia |
| RS1561879315 |
ALDH5A1
|
Health Risk |
Pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561879345 |
ALDH5A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561879380 |
ALDH5A1
|
Health Risk |
Pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561879386 |
ALDH5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561881357 |
ALDH5A1
|
Health Risk |
Pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561881909 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS1561889345 |
DCDC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis |
| RS1561892336 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS1561898352 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS1561898523 |
DOCK2
|
Health Risk |
Likely pathogenic |
DOCK2 deficiency, DOCK2 deficiency |
| RS1561901881 |
CSF1R
|
Health Risk |
Likely pathogenic |
Alzheimer disease, Alzheimer disease |
| RS1561904557 |
CSF1R
|
Health Risk |
Pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS1561905293 |
CSF1R
|
Health Risk |
Likely pathogenic |
Alzheimer disease, Alzheimer disease |
| RS1561913526 |
CSF1R
|
Health Risk |
Pathogenic |
Brain abnormalities, neurodegeneration |
| RS1561920869 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1561921358 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1561938413 |
AARS2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8 |
| RS1561939338 |
HFE
|
Health Risk |
Likely pathogenic |
Hemochromatosis type 1, Hemochromatosis type 1 |
| RS1561941287 |
AARS2
|
Health Risk |
Pathogenic |
Leukoencephalopathy, progressive |
| RS1561943859 |
AARS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy, progressive |
| RS1561946042 |
MAK
|
Health Risk |
Pathogenic |
— |
| RS1561946879 |
MTO1
|
Health Risk |
Pathogenic |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS1561952122 |
MMUT
|
Health Risk |
Pathogenic |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1561954433 |
MTO1
|
Health Risk |
Pathogenic |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| RS1561957395 |
MMUT
|
Health Risk |
Pathogenic |
— |
| RS1561957527 |
MMUT
|
Health Risk |
Likely pathogenic |
— |
| RS1561958979 |
MMUT
|
Health Risk |
Likely pathogenic |
— |
| RS1561959114 |
MMUT
|
Health Risk |
Pathogenic/Likely pathogenic |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1561959894 |
MMUT
|
Health Risk |
Conflicting classifications of pathogenicity |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1561964103 |
TFAP2B
|
Health Risk |
Pathogenic |
Char syndrome, Char syndrome |
| RS1561965266 |
EYS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1561967407 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, PKHD1-related disorder |
| RS1561982219 |
ELOVL4
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| RS1561990337 |
FARS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS1561990390 |
FARS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77 |
| RS1561990552 |
FARS2
|
Health Risk |
Likely pathogenic |
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS1561990875 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1561993898 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1561993938 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1561994323 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS1561994347 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS1562000876 |
SLC17A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS1562005199 |
ADGRB3
|
Health Risk |
Likely pathogenic |
Short stature, Short stature |
| RS1562011389 |
RHAG
|
Health Risk |
Pathogenic |
Rh-null, regulator type |
| RS1562012617 |
RHAG
|
Health Risk |
Pathogenic |
Rh-null, regulator type |
| RS1562012697 |
RHAG
|
Health Risk |
Pathogenic |
Rh-null, regulator type |
| RS1562040106 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1562040783 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1562042503 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1562044017 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS1562045237 |
CSNK2B
|
Health Risk |
Pathogenic |
— |
| RS1562047621 |
HARS2
|
Health Risk |
Likely pathogenic |
Perrault syndrome 2, Perrault syndrome 2 |
| RS1562050885 |
CSNK2B
|
Health Risk |
Likely pathogenic |
— |
| RS1562079278 |
EYS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1562079314 |
EYS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1562079554 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS1562083594 |
MOCS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A |
| RS1562085332 |
MOCS1
|
Health Risk |
Likely pathogenic |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A |
| RS1562086521 |
MOCS1
|
Health Risk |
Pathogenic |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A |
| RS1562097849 |
NSD1
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS1562099585 |
NSD1
|
Health Risk |
Pathogenic |
Sotos syndrome, Sotos syndrome |
| RS1562102601 |
BCKDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease type 1A |
| RS1562102740 |
BCKDHB
|
Health Risk |
Pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS1562103173 |
EYS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1562103192 |
PHACTR1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 70 |
| RS1562104211 |
BCKDHB
|
Health Risk |
Conflicting classifications of pathogenicity |
Maple syrup urine disease type 1B, Maple syrup urine disease type 1B |
| RS1562106804 |
LCA5
|
Health Risk |
Pathogenic |
— |
| RS1562109990 |
EYS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS1562112641 |
LMBRD1
|
Health Risk |
Pathogenic |
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1562112648 |
LMBRD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1562113567 |
IL12B
|
Health Risk |
Pathogenic |
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS1562113724 |
IL12B
|
Health Risk |
Conflicting classifications of pathogenicity |
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| RS1562114190 |
PHIP
|
Health Risk |
Pathogenic |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1562114406 |
PHACTR1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 70 |
| RS1562122372 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS1562127631 |
PHIP
|
Health Risk |
Pathogenic |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1562128924 |
PHIP
|
Health Risk |
Pathogenic |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1562133291 |
BVES
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |