| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
C4747517 |
ACAD9
|
Causal
Pathogenic evidence from ClinVar
|
17564966, 20816094, 20929961, 21057504, 22499348, 23836383, 23996478, 25326637, 25721401, 25929793, 26669660, 26741492, 27604308, 28529009, 30025539 |
ClinVar |
| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 |
C3808899 |
ATP5F1A
|
Causal
Pathogenic evidence from ClinVar
|
23596069, 23599390 |
ClinVar |
| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 |
C4748269 |
ATP5F1D
|
Causal
Pathogenic evidence from ClinVar
|
29478781 |
ClinVar |
| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 |
C3279708 |
ATP5F1E
|
Causal
Pathogenic evidence from ClinVar
|
20566710, 25954304, 27604308 |
ClinVar |
| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 |
C3276276 |
ATPAF2
|
Causal
Pathogenic evidence from ClinVar
|
14757859, 19933271, 27604308 |
ClinVar |
| MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) |
C1852372 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
17403714 |
ClinVar |
|
CYC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LYRM7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 |
C3541471 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
9777342, 9878253, 11528392, 12215968, 12910490, 17314340, 17403714, 18628306, 19162478, 19508421, 21274865, 22991165, 27604308, 27959697 |
ClinVar |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 |
C3809553 |
CYC1
|
Causal
Pathogenic evidence from ClinVar
|
23910460 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY |
C1838979 |
FOXRED1
|
Causal
Pathogenic evidence from ClinVar
|
9463323, 20858599, 21203893, 22200994, 27604308 |
ClinVar |
|
NDUFA1
|
Causal
Pathogenic evidence from ClinVar
|
17262856, 19185523, 21596602, 22644603, 27604308, 28247337, 29272804 |
ClinVar |
|
NDUFA11
|
Causal
Pathogenic evidence from ClinVar
|
18306244, 22644603, 27604308 |
ClinVar |
|
NDUFA13
|
Causal
Pathogenic evidence from ClinVar
|
25901006 |
ClinVar |
|
NDUFA6
|
Causal
Pathogenic evidence from ClinVar
|
30245030 |
ClinVar |
|
NDUFAF1
|
Causal
Pathogenic evidence from ClinVar
|
17557076, 27604308 |
ClinVar |
|
NDUFAF2
|
Causal
Pathogenic evidence from ClinVar
|
16200211, 20571988, 22644603, 26795593, 27604308 |
ClinVar |
|
NDUFAF3
|
Causal
Pathogenic evidence from ClinVar
|
19463981, 22644603, 27604308 |
ClinVar |
|
NDUFAF4
|
Causal
Pathogenic evidence from ClinVar
|
18179882, 22644603, 27604308 |
ClinVar |
|
NDUFAF5
|
Causal
Pathogenic evidence from ClinVar
|
18940309, 21607760, 22644603, 27604308, 30473481 |
ClinVar |
|
NDUFB10
|
Causal
Pathogenic evidence from ClinVar
|
28040730 |
ClinVar |
|
NDUFB11
|
Causal
Pathogenic evidence from ClinVar
|
26741492 |
ClinVar |
|
NDUFB3
|
Causal
Pathogenic evidence from ClinVar
|
22277967, 22499348, 27604308 |
ClinVar |
|
NDUFB8
|
Causal
Pathogenic evidence from ClinVar
|
29429571 |
ClinVar |
|
NDUFB9
|
Causal
Pathogenic evidence from ClinVar
|
22200994 |
ClinVar |
|
NDUFS1
|
Causal
Pathogenic evidence from ClinVar
|
20382551, 22644603, 25615419, 25655951, 27604308 |
ClinVar |
|
NDUFS2
|
Causal
Pathogenic evidence from ClinVar
|
14749350, 15576045, 20819849, 22644603, 24215330, 27604308 |
ClinVar |
|
NDUFS3
|
Causal
Pathogenic evidence from ClinVar
|
19167255, 22499348, 27604308 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 |
C4748791 |
FOXRED1
|
Causal
Pathogenic evidence from ClinVar
|
20818383, 20858599, 25678554 |
ClinVar |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 |
C4014440 |
LYRM7
|
Causal
Pathogenic evidence from ClinVar
|
24014394, 26912632, 27151179, 27564080, 28694194, 29353736 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 |
C4746984 |
NDUFA1
|
Causal
Pathogenic evidence from ClinVar
|
17262856 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 |
C4748796 |
NDUFA10
|
Causal
Pathogenic evidence from ClinVar
|
21150889, 26741492 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 |
C4748777 |
NDUFA11
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 |
C4748799 |
NDUFA12
|
Causal
Pathogenic evidence from ClinVar
|
21617257, 27604308 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 |
C4748827 |
NDUFA13
|
Causal
Pathogenic evidence from ClinVar
|
25901006 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 |
C4748770 |
NDUFA2
|
Causal
Pathogenic evidence from ClinVar
|
18513682, 27159321 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 |
C4748840 |
NDUFA6
|
Causal
Pathogenic evidence from ClinVar
|
30245030 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 |
C4748809 |
NDUFA9
|
Causal
Pathogenic evidence from ClinVar
|
22114105, 28671271 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 |
C4748769 |
NDUFAF1
|
Causal
Pathogenic evidence from ClinVar
|
17557076, 21931170 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 |
C4748768 |
NDUFAF2
|
Causal
Pathogenic evidence from ClinVar
|
20571988, 20818383 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 |
C4748790 |
NDUFAF3
|
Causal
Pathogenic evidence from ClinVar
|
19463981, 27986404 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 |
C4748778 |
NDUFAF4
|
Causal
Pathogenic evidence from ClinVar
|
18179882, 28853723 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 |
C4748785 |
NDUFAF5
|
Causal
Pathogenic evidence from ClinVar
|
18940309, 19542079, 21607760, 21620786 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 |
C4748786 |
NDUFAF6
|
Causal
Pathogenic evidence from ClinVar
|
18614015, 22019594, 26741492 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 |
C4746985 |
NDUFB11
|
Causal
Pathogenic evidence from ClinVar
|
26741492 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 |
C4748806 |
NDUFB3
|
Causal
Pathogenic evidence from ClinVar
|
22499348, 27091925 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 |
C4748839 |
NDUFB8
|
Causal
Pathogenic evidence from ClinVar
|
27290639, 29429571 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 |
C4748803 |
NDUFB9
|
Causal
Pathogenic evidence from ClinVar
|
22200994 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 |
C4748754 |
NDUFS1
|
Causal
Pathogenic evidence from ClinVar
|
11349233, 19167255, 20382551, 21458341 |
ClinVar |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 |
C4748759 |
NDUFS2
|
Causal
Pathogenic evidence from ClinVar
|
11220739, 28031252 |
ClinVar |
