| RS2484513616 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484513635 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484513929 |
GCK
|
Health Risk |
Likely pathogenic |
GCK-related disorder, GCK-related disorder |
| RS2484513948 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484513961 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484514005 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484514406 |
GCK
|
Health Risk |
Pathogenic/Likely pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484514615 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484514960 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484515022 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484522134 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2484522141 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484522183 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2484522455 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484522580 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484522606 |
GCK
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484522642 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484522653 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484522855 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484522862 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484522876 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484523008 |
GCK
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2484523041 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484523083 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484523126 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2484523726 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young |
| RS2484523742 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484523834 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484523947 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484524110 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484524286 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, GCK-related disorder |
| RS2484524321 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484524391 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484524472 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484524501 |
GCK
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484524511 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484524530 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484529224 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484529240 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484529250 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484529294 |
GCK
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484529339 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484529399 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 2, Monogenic diabetes |
| RS2484529426 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2484529445 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2484529481 |
GCK
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2484529492 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2484529561 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484529889 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484530200 |
GCK
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2484530209 |
GCK
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2484530226 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484534778 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484534844 |
GCK
|
Health Risk |
Pathogenic/Likely pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young |
| RS2484534928 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484535524 |
GCK
|
Health Risk |
Pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484535560 |
GCK
|
Health Risk |
Pathogenic |
GCK-related disorder, Monogenic diabetes |
| RS2484535683 |
GCK
|
Health Risk |
Pathogenic |
Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glucokinase deficiency |
| RS2484535746 |
GCK
|
Health Risk |
Pathogenic |
— |
| RS2484535943 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484535997 |
GCK
|
Health Risk |
Pathogenic |
Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 2 |
| RS2484539759 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484539869 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484540040 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484540047 |
GCK
|
Health Risk |
Likely pathogenic |
Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 2 |
| RS2484540129 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484540140 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484540522 |
GCK
|
Health Risk |
Likely pathogenic |
— |
| RS2484540549 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484540589 |
GCK
|
Health Risk |
Pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484540715 |
GCK
|
Health Risk |
Likely pathogenic |
Monogenic diabetes, Monogenic diabetes |
| RS2484553602 |
FKBP6
|
Health Risk |
Likely pathogenic |
Spermatogenic failure 77, Male infertility |
| RS2484574515 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS2484604421 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2484604436 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2484604814 |
RARS2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS2484606377 |
RARS2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS2484606463 |
RARS2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS2484606871 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2484607160 |
RARS2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS2484607393 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome 3 |
| RS2484609438 |
RARS2
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS2484609666 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484609816 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484610153 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484610293 |
PEX1
|
Health Risk |
Likely pathogenic |
Zellweger spectrum disorders, Heimler syndrome 1 |
| RS2484612471 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484612618 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484613131 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Heimler syndrome 1, Zellweger spectrum disorders |
| RS2484613304 |
PEX1
|
Health Risk |
Likely pathogenic |
PEX1-related disorder, PEX1-related disorder |
| RS2484613318 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Heimler syndrome 1, Zellweger spectrum disorders |
| RS2484613763 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484613794 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484613798 |
PEX1
|
Health Risk |
Likely pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484620697 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484620768 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484620854 |
PEX1
|
Health Risk |
Pathogenic |
Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS2484621144 |
PEX1
|
Health Risk |
Likely pathogenic |
Heimler syndrome 1, Heimler syndrome 1 |
| RS2484621318 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS2484621346 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |