| RS2484621408 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484621589 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484621668 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS2484623271 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484624216 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484628072 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484628083 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484628372 |
GCK
|
Health Risk |
Pathogenic |
GCK-related disorder, Monogenic diabetes |
| RS2484628438 |
ARPC1B
|
Health Risk |
Pathogenic |
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| RS2484628617 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484628973 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484629018 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484629457 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484629571 |
PEX1
|
Health Risk |
Likely pathogenic |
Zellweger spectrum disorders, Heimler syndrome 1 |
| RS2484630455 |
ASNS
|
Health Risk |
Likely pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS2484630568 |
ASNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS2484630835 |
ASNS
|
Health Risk |
Likely pathogenic |
— |
| RS2484634380 |
AUTS2
|
Health Risk |
Pathogenic |
Developmental disorder, Developmental disorder |
| RS2484634669 |
ARPC1B
|
Health Risk |
Pathogenic |
— |
| RS2484635137 |
ARPC1B
|
Health Risk |
Pathogenic |
— |
| RS2484635548 |
AUTS2
|
Health Risk |
Pathogenic |
— |
| RS2484636291 |
ASNS
|
Health Risk |
Likely pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS2484636398 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484636604 |
ASNS
|
Health Risk |
Pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS2484636748 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484636781 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484636920 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484637035 |
ASNS
|
Health Risk |
Likely pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS2484637066 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484637496 |
AUTS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autism spectrum disorder due to AUTS2 deficiency, AUTS2-related disorder |
| RS2484637936 |
AUTS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS2484638196 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484638354 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484638489 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484638564 |
AUTS2
|
Health Risk |
Likely pathogenic |
Autism spectrum disorder, Autism spectrum disorder |
| RS2484638571 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484638597 |
GLI3
|
Health Risk |
Likely pathogenic |
GLI3-related disorder, GLI3-related disorder |
| RS2484638988 |
PEX1
|
Health Risk |
Likely pathogenic |
Zellweger spectrum disorders, Heimler syndrome 1 |
| RS2484639268 |
ARPC1B
|
Health Risk |
Likely pathogenic |
— |
| RS2484640849 |
ASNS
|
Health Risk |
Likely pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS2484642297 |
AUTS2
|
Health Risk |
Pathogenic |
Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS2484642389 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484642712 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484646254 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484646305 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484647959 |
GLI3
|
Health Risk |
Likely pathogenic |
Greig cephalopolysyndactyly syndrome, Polydactyly |
| RS2484648574 |
ARPC1B
|
Health Risk |
Pathogenic |
— |
| RS2484649601 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484650196 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484655081 |
PEX1
|
Health Risk |
Likely pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484655162 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484655576 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484656208 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484656322 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484656752 |
ASNS
|
Health Risk |
Likely pathogenic |
— |
| RS2484659748 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484659833 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484660252 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B |
| RS2484660560 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484660589 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484661382 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484661506 |
ASNS
|
Health Risk |
Likely pathogenic |
— |
| RS2484661548 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484661583 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484661619 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484661854 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484661912 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484662033 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484662041 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484662083 |
PEX1
|
Health Risk |
Likely pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484662674 |
ASNS
|
Health Risk |
Pathogenic |
— |
| RS2484662971 |
ASNS
|
Health Risk |
Likely pathogenic |
— |
| RS2484664752 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484664758 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484664869 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484664919 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484664960 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484664984 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484665136 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484665191 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484667019 |
AUTS2
|
Health Risk |
Pathogenic |
— |
| RS2484667150 |
AUTS2
|
Health Risk |
Likely pathogenic |
AUTS2-related disorder, AUTS2-related disorder |
| RS2484668233 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B |
| RS2484668738 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484669171 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484669193 |
PEX1
|
Health Risk |
Likely pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484673333 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484673340 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484673420 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484673537 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484673578 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484673641 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484673692 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484675146 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2484676110 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484676190 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484676279 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484676331 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484676385 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484676419 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |