| RS2473949135 |
GFM1
|
Health Risk |
Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473949734 |
GFM1
|
Health Risk |
Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473960030 |
RNF168
|
Health Risk |
Pathogenic |
— |
| RS2473960497 |
GFM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473961042 |
GFM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473961108 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2473961744 |
EIF4A2
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473961852 |
EIF4A2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures |
| RS2473964114 |
FGF12
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 47 |
| RS2473965026 |
GFM1
|
Health Risk |
Likely pathogenic |
— |
| RS2473965987 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2473966364 |
GFM1
|
Health Risk |
Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473966537 |
GFM1
|
Health Risk |
Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473967144 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Hematuria |
| RS2473967532 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2473967848 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS2473968343 |
EIF4A2
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473970265 |
COL4A4
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2473970855 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Hematuria |
| RS2473970931 |
EIF4A2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473970934 |
EIF4A2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and speech delay |
| RS2473971757 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2473971829 |
GFM1
|
Health Risk |
Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473972556 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS2473972925 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2473974398 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2473974445 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2473975415 |
EIF4A2
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473975739 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS2473976527 |
EIF4A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and speech delay |
| RS2473977917 |
SETD5
|
Health Risk |
Likely pathogenic |
— |
| RS2473980014 |
RNF168
|
Health Risk |
Pathogenic |
— |
| RS2473981502 |
P3H2
|
Health Risk |
Likely pathogenic |
— |
| RS2473981746 |
P3H2
|
Health Risk |
Pathogenic |
— |
| RS2473982076 |
P3H2
|
Health Risk |
Pathogenic |
— |
| RS2473982808 |
P3H2
|
Health Risk |
Pathogenic |
— |
| RS2473983738 |
EIF4A2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures |
| RS2473985654 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2473985812 |
GFM1
|
Health Risk |
Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473985927 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2473986037 |
GFM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2473986237 |
GFM1
|
Health Risk |
Likely pathogenic |
— |
| RS2473988650 |
PLD1
|
Health Risk |
Likely pathogenic |
Cardiac valvular defect, developmental |
| RS2473989143 |
SETD5
|
Health Risk |
Likely pathogenic |
— |
| RS2473992401 |
SETD5
|
Health Risk |
Likely pathogenic |
SETD5-related disorder, SETD5-related disorder |
| RS2473992572 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2473993041 |
GFM1
|
Health Risk |
Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2474001104 |
PAK2
|
Health Risk |
Likely pathogenic |
Knobloch syndrome 2, Knobloch syndrome 2 |
| RS2474004099 |
SRCAP
|
Health Risk |
Likely pathogenic |
Rare genetic intellectual disability, Rare genetic intellectual disability |
| RS2474006520 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474006870 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2474007179 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2474007358 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2474008510 |
MED12L
|
Health Risk |
Likely pathogenic |
Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS2474010076 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474010597 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474011027 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS2474011193 |
GFM1
|
Health Risk |
Likely pathogenic |
— |
| RS2474011247 |
GFM1
|
Health Risk |
Pathogenic/Likely pathogenic |
GFM1-related disorder, GFM1-related disorder |
| RS2474011501 |
GFM1
|
Health Risk |
Likely pathogenic |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2474011745 |
GFM1
|
Health Risk |
Pathogenic |
— |
| RS2474012131 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS2474015361 |
PCYT1A
|
Health Risk |
Likely pathogenic |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS2474073903 |
PDE6B
|
Health Risk |
Likely pathogenic |
Congenital stationary night blindness autosomal dominant 2, Congenital stationary night blindness autosomal dominant 2 |
| RS2474075421 |
PDE6B
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2474075677 |
PDE6B
|
Health Risk |
Likely pathogenic |
— |
| RS2474078466 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474079406 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS2474093039 |
MASP1
|
Health Risk |
Likely pathogenic |
3MC syndrome 1, 3MC syndrome 1 |
| RS2474093072 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2474100239 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474100327 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2474100561 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2474100970 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474100983 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2474104968 |
PDE6B
|
Health Risk |
Likely pathogenic |
— |
| RS2474109890 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474110153 |
PDE6B
|
Health Risk |
Pathogenic |
— |
| RS2474111547 |
MSX1
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS2474113860 |
MSX1
|
Health Risk |
Pathogenic |
Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome |
| RS2474113971 |
MSX1
|
Health Risk |
Likely pathogenic |
MSX1-related disorder, MSX1-related disorder |
| RS2474115806 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS2474116506 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS2474116574 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474117368 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474117528 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474118082 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474121090 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS2474124227 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Hematuria |
| RS2474133299 |
SLC12A3
|
Health Risk |
Pathogenic |
— |
| RS2474141872 |
EVC2
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2474141903 |
EVC2
|
Health Risk |
Likely pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474142661 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2474142706 |
EVC2
|
Health Risk |
Pathogenic |
Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2474143770 |
MASP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2474148972 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2474151503 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2474157346 |
WFS1
|
Health Risk |
Pathogenic |
— |
| RS2474160561 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS2474161328 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |