| Leigh Disease |
C0023264 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
9777342, 9878253, 10508156, 11528392, 17314340, 19162478, 19389488, 19508421, 21274865, 24172246, 25613900, 25895478, 25914718, 27604308, 28427446 |
ClinVar |
|
COX15
|
Causal
Pathogenic evidence from ClinVar
|
11788607, 12474143, 15235026, 15863660, 21412973, 21723506, 22310368, 25613900, 26039449, 26959537, 27604308 |
ClinVar |
|
ECHS1
|
Causal
Pathogenic evidence from ClinVar
|
25125611, 26099313 |
ClinVar |
|
FARS2
|
Causal
Pathogenic evidence from ClinVar
|
22499341, 22833457, 26553276, 27095821, 27549011, 27977873, 29126765 |
ClinVar |
|
FOXRED1
|
Causal
Pathogenic evidence from ClinVar
|
20818383, 25678554, 26022995, 27215383, 30392038, 31065540 |
ClinVar |
|
MRPS34
|
Causal
Pathogenic evidence from ClinVar
|
2877793 |
ClinVar |
|
MTFMT
|
Causal
Pathogenic evidence from ClinVar
|
21907147, 24461907 |
ClinVar |
|
NDUFAF2
|
Causal
Pathogenic evidence from ClinVar
|
16200211, 20571988, 20818383, 27604308 |
ClinVar |
|
NDUFAF6
|
Causal
Pathogenic evidence from ClinVar
|
18614015, 26741492, 27604308 |
ClinVar |
|
NDUFS1
|
Causal
Pathogenic evidence from ClinVar
|
1582426, 1935949, 9878551, 11349233, 15186778, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380 |
ClinVar |
|
NDUFS4
|
Causal
Pathogenic evidence from ClinVar
|
11181577, 12616398, 14749350, 14765537, 18396137, 19107570, 19364667, 20818383, 22326555, 22653057, 24020637, 25613900, 27079373, 27509854, 27604308, 27671926, 29590638 |
ClinVar |
|
NDUFS7
|
Causal
Pathogenic evidence from ClinVar
|
10360771, 15269216, 17604671, 22644603, 25655951, 27509854, 27604308, 30429455, 30972103 |
ClinVar |
|
NDUFS8
|
Causal
Pathogenic evidence from ClinVar
|
9837812, 15159508, 19672299, 20818383, 21924235, 22200994, 23430795, 27509854, 27604308, 29285794 |
ClinVar |
| LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
C1838951 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
10508156, 11528392, 19162478, 21274865, 25613900, 28427446 |
ClinVar |
|
COX15
|
Causal
Pathogenic evidence from ClinVar
|
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
ClinVar |
|
FARS2
|
Causal
Pathogenic evidence from ClinVar
|
22499341, 22833457, 26553276, 27095821, 27549011, 27977873, 29126765 |
ClinVar |
|
FOXRED1
|
Causal
Pathogenic evidence from ClinVar
|
20818383, 25678554, 26022995, 27215383, 30392038, 31065540 |
ClinVar |
|
NDUFAF6
|
Causal
Pathogenic evidence from ClinVar
|
26741492 |
ClinVar |
|
NDUFS1
|
Causal
Pathogenic evidence from ClinVar
|
1582426, 1935949, 9878551, 11349233, 15186778, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380 |
ClinVar |
|
NDUFS4
|
Causal
Pathogenic evidence from ClinVar
|
12616398, 14749350, 14765537, 18396137, 22326555, 22653057, 24020637, 25613900, 27079373, 27509854, 27671926, 29590638 |
ClinVar |
|
NDUFS7
|
Causal
Pathogenic evidence from ClinVar
|
10360771, 15269216, 17604671, 22644603, 27509854, 30429455, 30972103 |
ClinVar |
|
NDUFS8
|
Causal
Pathogenic evidence from ClinVar
|
9837812, 15159508, 19672299, 20818383, 21924235, 22200994, 23430795, 25655951, 27509854, 29285794 |
ClinVar |
| Leigh Syndrome Due To Mitochondrial Complex II Deficiency |
C1850597 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
10508156, 11528392, 19162478, 21274865, 25613900, 28427446 |
ClinVar |
|
COX15
|
Causal
Pathogenic evidence from ClinVar
|
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
ClinVar |
|
FARS2
|
Causal
Pathogenic evidence from ClinVar
|
22499341, 22833457, 26553276, 27095821, 27549011, 27977873, 29126765 |
ClinVar |
|
FOXRED1
|
Causal
Pathogenic evidence from ClinVar
|
20818383, 25678554, 26022995, 27215383, 30392038, 31065540 |
ClinVar |
|
NDUFS1
|
Causal
Pathogenic evidence from ClinVar
|
1582426, 1935949, 9878551, 11349233, 15186778, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380 |
ClinVar |
|
NDUFS4
|
Causal
Pathogenic evidence from ClinVar
|
12616398, 14749350, 14765537, 18396137, 22326555, 22653057, 24020637, 25613900, 27079373, 27509854, 27671926, 29590638 |
ClinVar |
|
NDUFS7
|
Causal
Pathogenic evidence from ClinVar
|
10360771, 15269216, 17604671, 22644603, 27509854, 30429455, 30972103 |
ClinVar |
| Leigh Syndrome due to Mitochondrial Complex III Deficiency |
C1850598 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
10508156, 11528392, 19162478, 21274865, 25613900, 28427446 |
ClinVar |
|
COX15
|
Causal
Pathogenic evidence from ClinVar
|
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
ClinVar |
|
FARS2
|
Causal
Pathogenic evidence from ClinVar
|
22499341, 22833457, 26553276, 27095821, 27549011, 27977873, 29126765 |
ClinVar |
|
FOXRED1
|
Causal
Pathogenic evidence from ClinVar
|
20818383, 25678554, 26022995, 27215383, 30392038, 31065540 |
ClinVar |
|
NDUFS1
|
Causal
Pathogenic evidence from ClinVar
|
1582426, 1935949, 9878551, 11349233, 15186778, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380 |
ClinVar |
|
NDUFS4
|
Causal
Pathogenic evidence from ClinVar
|
12616398, 14749350, 14765537, 18396137, 22326555, 22653057, 24020637, 25613900, 27079373, 27509854, 27671926, 29590638 |
ClinVar |
|
NDUFS7
|
Causal
Pathogenic evidence from ClinVar
|
10360771, 15269216, 17604671, 22644603, 27509854, 30429455, 30972103 |
ClinVar |
| Leigh Syndrome due to Mitochondrial Complex IV Deficiency |
C1850599 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
10508156, 11528392, 19162478, 21274865, 25613900, 28427446 |
ClinVar |
|
COX15
|
Causal
Pathogenic evidence from ClinVar
|
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
ClinVar |
|
FARS2
|
Causal
Pathogenic evidence from ClinVar
|
22499341, 22833457, 26553276, 27095821, 27549011, 27977873, 29126765 |
ClinVar |
|
FOXRED1
|
Causal
Pathogenic evidence from ClinVar
|
20818383, 25678554, 26022995, 27215383, 30392038, 31065540 |
ClinVar |
|
NDUFS1
|
Causal
Pathogenic evidence from ClinVar
|
1582426, 1935949, 9878551, 11349233, 15186778, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380 |
ClinVar |
|
NDUFS4
|
Causal
Pathogenic evidence from ClinVar
|
12616398, 14749350, 14765537, 18396137, 22326555, 22653057, 24020637, 25613900, 27079373, 27509854, 27671926, 29590638 |
ClinVar |
|
NDUFS7
|
Causal
Pathogenic evidence from ClinVar
|
10360771, 15269216, 17604671, 22644603, 27509854, 30429455, 30972103 |
ClinVar |
| Leigh Syndrome due to Mitochondrial Complex V Deficiency |
C1850600 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
10508156, 11528392, 19162478, 21274865, 25613900, 28427446 |
ClinVar |
|
COX15
|
Causal
Pathogenic evidence from ClinVar
|
11788607, 12474143, 15235026, 21723506, 25613900, 26039449 |
ClinVar |
|
FARS2
|
Causal
Pathogenic evidence from ClinVar
|
22499341, 22833457, 26553276, 27095821, 27549011, 27977873, 29126765 |
ClinVar |
|
FOXRED1
|
Causal
Pathogenic evidence from ClinVar
|
20818383, 25678554, 26022995, 27215383, 30392038, 31065540 |
ClinVar |
|
NDUFS1
|
Causal
Pathogenic evidence from ClinVar
|
1582426, 1935949, 9878551, 11349233, 15186778, 20382551, 21203893, 21458341, 22200994, 24952175, 25615419, 27626380 |
ClinVar |
|
NDUFS4
|
Causal
Pathogenic evidence from ClinVar
|
12616398, 14749350, 14765537, 18396137, 22326555, 22653057, 24020637, 25613900, 27079373, 27509854, 27671926, 29590638 |
ClinVar |
|
NDUFS7
|
Causal
Pathogenic evidence from ClinVar
|
10360771, 15269216, 17604671, 22644603, 27509854, 30429455, 30972103 |
ClinVar |
