MSeqDR Expert Panel Gene Curation Work List 
User comment on mitochondrial diseases and variants

 Share your knowledge about mitochondrial diseases, genes, variants and pathogenicity
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Input HGNC/Refseq Gene Symbols, Entrez Gene IDs, or Ensembl Gene IDs Above and
1. MT-ATP6 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 66(66) LSDB, HGMD: , ClinVar: 12
Mitochondrial Disease: View 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
516060 ATP SYNTHASE 6;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED
551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME
2. MT-ATP8 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 12(12) LSDB, HGMD: , ClinVar: 1
Mitochondrial Disease: View 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
516060 ATP SYNTHASE 6;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED
551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME
3. MT-CO1 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 82(82) LSDB, HGMD: , ClinVar: 10
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
550500 MYOGLOBINURIA, RECURRENT
580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED
4. MT-CO2 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 36(36) LSDB, HGMD: , ClinVar: 5
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
5. MT-CO3 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 54(54) LSDB, HGMD: , ClinVar: 7
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
6. MT-CYB Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 90(90) LSDB, HGMD: , ClinVar: 66
Mitochondrial Disease: View 500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
601665 Obesity, autosomal dominant, 601665 (3)
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
516020 CYTOCHROME b OF COMPLEX III; MTCYB
7. MT-ND1 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 87(87) LSDB, HGMD: , ClinVar: 23
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
8. MT-ND2 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 49(49) LSDB, HGMD: , ClinVar: 6
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
9. MT-ND3 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 24(24) LSDB, HGMD: , ClinVar: 7
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME
10. MT-ND4 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 73(73) LSDB, HGMD: , ClinVar: 6
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
11. MT-ND4L Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 22(22) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: View 535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
12. MT-ND5 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 135(135) LSDB, HGMD: , ClinVar: 14
Mitochondrial Disease: View 535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
13. MT-ND6 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 43(43) LSDB, HGMD: , ClinVar: 14
Mitochondrial Disease: View 553000 ONCOCYTOMA
500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
14. MT-RNR1 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 108(108) LSDB, HGMD: , ClinVar: 46
Mitochondrial Disease: View 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED
15. MT-RNR2 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 104(104) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: View 515000 CHLORAMPHENICOL TOXICITY;ANEMIA, CHLORAMPHENICOL-INDUCED;CHLORAMPHENICOL RESISTANCE, INCLUDED
16. MT-TA Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 6(6) LSDB, HGMD: , ClinVar: 4
Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia
17. MT-TC Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 10(10) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: View 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
18. MT-TE Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 12(12) LSDB, HGMD: , ClinVar: 5
Mitochondrial Disease: View 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES
520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD
500009 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT;MMIT
19. MT-TF Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 18(18) LSDB, HGMD: , ClinVar: 7
Mitochondrial Disease: View 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
20. MT-TH Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 9(9) LSDB, HGMD: , ClinVar: 4
Mitochondrial Disease: View 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
21. MT-TI Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 22(22) LSDB, HGMD: , ClinVar: 8
Mitochondrial Disease: View 500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL, caused by a mutation in the mitochondrial tRNA(Ile) gene (590045). MT-TI
500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
22. MT-TK Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 23(23) LSDB, HGMD: , ClinVar: 7
Mitochondrial Disease: View 556500 PARKINSON DISEASE, MITOCHONDRIAL
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD
603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
23. MT-TL1 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 34(34) LSDB, HGMD: , ClinVar: 12
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
500007 CYCLIC VOMITING SYNDROME; CVS
530000 KEARNS-SAYRE SYNDROME, caused by various mitochondrial deletions
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD
24. MT-TL2 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 14(14) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia
25. MT-TM Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 8(8) LSDB, HGMD: , ClinVar: 1
Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia
26. MT-TN Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 7(7) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
252010 Mitochondrial complex I deficiency, 252010 (3)
27. MT-TQ Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 16(16) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: View 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
28. MT-TS1 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 23(23) LSDB, HGMD: , ClinVar: 12
Mitochondrial Disease: View 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
29. MT-TS2 Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 11(11) LSDB, HGMD: , ClinVar: 2
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
30. MT-TV Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 12(12) LSDB, HGMD: , ClinVar: 3
Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
31. MT-TW Portal LSDB OMIM N
Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai
Variants: 16(16) LSDB, HGMD: , ClinVar: 8
Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
32. POLG Portal LSDB OMIM N
Expert Curator: Renkui Bai; Marni Falk; Lishuang Shen; XiaowuGai
Variants: 210(209) LSDB, HGMD: 259, ClinVar: 273
Mitochondrial Disease: View 258450 Progressive external ophthalmoplegia, autosomal recessive, 258450 (3)
603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
203700 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
613662 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)
157640 Progressive external ophthalmoplegia, autosomal dominant, 157640 (3)
607459 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)
33. AARS2 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 14, ClinVar: 56
Mitochondrial Disease: View 614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8
34. ABCC8 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 580, ClinVar: 123
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
35. ACAD9 Portal LSDB OMIM N
Expert Curator:
Variants: 8(8) LSDB, HGMD: 21, ClinVar: 51
Mitochondrial Disease: View 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF
36. ACADM Portal LSDB OMIM N
Expert Curator:
Variants: 13(12) LSDB, HGMD: 159, ClinVar: 60
Mitochondrial Disease: View 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
37. ACADS Portal LSDB OMIM N
Expert Curator:
Variants: 24(18) LSDB, HGMD: 61, ClinVar: 42
Mitochondrial Disease: View 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
38. ACADVL Portal LSDB OMIM N
Expert Curator:
Variants: 50(39) LSDB, HGMD: 173, ClinVar: 104
Mitochondrial Disease: View 201460 MOVED TO 201475
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD
39. ACAT1 Portal LSDB OMIM N
Expert Curator:
Variants: 13(13) LSDB, HGMD: 65, ClinVar: 38
Mitochondrial Disease: View 203750 ALPHA-METHYLACETOACETIC ACIDURIA
40. ACO2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 16
Mitochondrial Disease: View 614559 Infantile cerebellar-retinal degeneration, 614559 (3)??mitochondrial?
41. ADCK3 Portal LSDB OMIM N
Expert Curator:
Variants: 12(12) LSDB, HGMD: 29, ClinVar: 57
Mitochondrial Disease: View 612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4
42. ADRB2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 8, ClinVar: 4
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
43. ADRB3 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 1
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
44. AFG3L2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 21, ClinVar: 32
Mitochondrial Disease: View 610246 SPINOCEREBELLAR ATAXIA 28; SCA28
45. AGK Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 19, ClinVar: 31
Mitochondrial Disease: View 212350 SENGERS SYNDROME
46. AIFM1 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 18, ClinVar: 33
Mitochondrial Disease: View 300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6
47. AK2 Portal LSDB OMIM N
Expert Curator:
Variants: 10(10) LSDB, HGMD: 14, ClinVar: 17
Mitochondrial Disease: View 267500 Reticular dysgenesis, 267500 (3)
48. AKT2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 6
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
49. ALDH2 Portal LSDB OMIM N
Expert Curator:
Variants: 2(1) LSDB, HGMD: 2, ClinVar: 1
Mitochondrial Disease: View 610251 Alcohol sensitivity, acute, 610251 (3)
50. APOPT1 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 4
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
51. ATP5A1 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 3
Mitochondrial Disease: View 615228 Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3)
52. ATP5E Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 0
Mitochondrial Disease: View 614053 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)
53. ATPAF2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 14
Mitochondrial Disease: View 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)
54. AUH Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 11, ClinVar: 28
Mitochondrial Disease: View 250950 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1
55. BCS1L Portal LSDB OMIM N
Expert Curator:
Variants: 17(17) LSDB, HGMD: 29, ClinVar: 36
Mitochondrial Disease: View 603358 GRACILE syndrome, 603358 (3)
262000 Bjornstad syndrome, 262000 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
124000 Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)
56. BOLA3 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 5
Mitochondrial Disease: View 614299 Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)
57. C10orf2 Portal LSDB OMIM N
Expert Curator:
Variants: 24(24) LSDB, HGMD: 61, ClinVar: 51
Mitochondrial Disease: View 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3
607459 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)
58. C12orf65 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 9, ClinVar: 14
Mitochondrial Disease: View 613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7
59. C19orf12 Portal LSDB OMIM N
Expert Curator:
Variants: 12(10) LSDB, HGMD: 34, ClinVar: 14
Mitochondrial Disease: View 614298 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4
60. CAPN10 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 7, ClinVar: 4
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
61. CARTPT Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 1
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
62. CDH23 Portal LSDB OMIM N
Expert Curator:
Variants: 25(25) LSDB, HGMD: 237, ClinVar: 344
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
63. CDKAL1 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 1, ClinVar: 2
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
64. CHKB Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 16, ClinVar: 0
Mitochondrial Disease: View 602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC
65. CISD2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 3, ClinVar: 0
Mitochondrial Disease: View 604928 WOLFRAM SYNDROME 2; WFS2
66. CLRN1 Portal LSDB OMIM N
Expert Curator:
Variants: 5(5) LSDB, HGMD: 28, ClinVar: 22
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
67. COA5 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 1
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
68. COQ2 Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 25, ClinVar: 36
Mitochondrial Disease: View 607426 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
69. COQ6 Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 9, ClinVar: 13
Mitochondrial Disease: View 614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6
70. COQ9 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 19
Mitochondrial Disease: View 614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5
71. COX10 Portal LSDB OMIM N
Expert Curator:
Variants: 5(5) LSDB, HGMD: 7, ClinVar: 22
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
72. COX14 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 3
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
73. COX15 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 27
Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
74. COX20 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 2
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
75. COX6B1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 6
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
76. CPS1 Portal LSDB OMIM N
Expert Curator:
Variants: 12(11) LSDB, HGMD: 247, ClinVar: 32
Mitochondrial Disease: View 237300 Carbamoylphosphate synthetase I deficiency;CPS I DEFICIENCY
615371 {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
77. CPT1A Portal LSDB OMIM N
Expert Curator:
Variants: 34(33) LSDB, HGMD: 41, ClinVar: 52
Mitochondrial Disease: View 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
78. CPT2 Portal LSDB OMIM N
Expert Curator:
Variants: 14(14) LSDB, HGMD: 99, ClinVar: 55
Mitochondrial Disease: View 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE;CPT2
79. CYC1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 2
Mitochondrial Disease: View 615453 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
80. DARS2 Portal LSDB OMIM N
Expert Curator:
Variants: 19(19) LSDB, HGMD: 54, ClinVar: 22
Mitochondrial Disease: View 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND
81. DFNB31 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 19, ClinVar: 84
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
82. DGUOK Portal LSDB OMIM N
Expert Curator:
Variants: 5(5) LSDB, HGMD: 57, ClinVar: 24
Mitochondrial Disease: View 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
83. DLAT Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 20
Mitochondrial Disease: View 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD
84. DNA2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 5
Mitochondrial Disease: View 615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, PEOA6
85. DNAJC19 Portal LSDB OMIM N
Expert Curator:
Variants: 4(2) LSDB, HGMD: 2, ClinVar: 9
Mitochondrial Disease: View 610198 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5
86. DNM1L Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 7
Mitochondrial Disease: View 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3)
87. ENPP1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 63, ClinVar: 30
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
88. ETFA Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 28, ClinVar: 17
Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
89. ETFB Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 13, ClinVar: 24
Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
90. ETFDH Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 146, ClinVar: 50
Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
91. FARS2 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 8, ClinVar: 24
Mitochondrial Disease: View 614946 Combined oxidative phosphorylation deficiency 14, 614946 (3)
92. FASTKD2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 23
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
93. FBXL4 Portal LSDB OMIM N
Expert Curator:
Variants: 5(5) LSDB, HGMD: 11, ClinVar: 6
Mitochondrial Disease: View 615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);MTDPS13
94. FOXRED1 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 6, ClinVar: 32
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
95. FXN Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 62, ClinVar: 13
Mitochondrial Disease: View 229300 FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
96. GAMT Portal LSDB OMIM N
Expert Curator:
Variants: 13(9) LSDB, HGMD: 53, ClinVar: 62
Mitochondrial Disease: View 229300 FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
97. GATM Portal LSDB OMIM N
Expert Curator:
Variants: 6(5) LSDB, HGMD: 7, ClinVar: 34
Mitochondrial Disease: View 612718 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3
98. GCGR Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 1
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
99. GCK Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 759, ClinVar: 146
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
100. GFER Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 13
Mitochondrial Disease: View 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
101. GFM1 Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 13, ClinVar: 38
Mitochondrial Disease: View 609060 Combined oxidative phosphorylation deficiency 1, 609060 (3)
102. GHRL Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 4, ClinVar: 1
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
103. GJB2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 365, ClinVar: 145
Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
104. GJB3 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 37, ClinVar: 31
Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
105. GJB6 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 24, ClinVar: 21
Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
106. GPD2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 5, ClinVar: 1
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
107. HADH Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 22, ClinVar: 14
Mitochondrial Disease: View 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE; HADH
108. HADHA Portal LSDB OMIM N
Expert Curator:
Variants: 7(7) LSDB, HGMD: 61, ClinVar: 21
Mitochondrial Disease: View 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY
609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
109. HADHB Portal LSDB OMIM N
Expert Curator:
Variants: 6(6) LSDB, HGMD: 53, ClinVar: 21
Mitochondrial Disease: View 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY
110. HARS2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 17
Mitochondrial Disease: View 614926 PERRAULT SYNDROME 2; PRLTS2
111. HMGA1 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 1
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
112. HMGCS2 Portal LSDB OMIM N
Expert Curator:
Variants: 6(6) LSDB, HGMD: 26, ClinVar: 11
Mitochondrial Disease: View 605911 HMG-CoA synthase-2 deficiency, 605911 (3);MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
113. HNF1B Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 172, ClinVar: 39
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
114. HNF4A Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 142, ClinVar: 39
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
115. HSPD1 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 20
Mitochondrial Disease: View 612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4
116. IBA57 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 2
Mitochondrial Disease: View 615330 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
117. IDH2 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 14
Mitochondrial Disease: View 613657 D-2-hydroxyglutaric aciduria 2, 613657 (3)
118. IGF2BP2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: , ClinVar: 1
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
119. IL6 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 9, ClinVar: 2
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
120. INSR Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 163, ClinVar: 55
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
121. IRS1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 23, ClinVar: 3
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
122. ISCU Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 9
Mitochondrial Disease: View 255125 MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML
123. KANK1 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 14
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
124. KCNJ11 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 159, ClinVar: 76
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
125. LARS2 Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 4, ClinVar: 5
Mitochondrial Disease: View 615300 Perrault syndrome 4, 615300 (3)
126. LEPR Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 29, ClinVar: 8
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
127. LIAS Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 3, ClinVar: 22
Mitochondrial Disease: View 614462 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD
128. LIPC Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 19, ClinVar: 6
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
129. LRPPRC Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 72
Mitochondrial Disease: View 220111 Leigh syndrome, French-Canadian type, 220111 (3)
130. MAPK8IP1 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 1
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
131. MC4R Portal LSDB OMIM N
Expert Curator:
Variants: 22(22) LSDB, HGMD: 156, ClinVar: 33
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
132. ME2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: , ClinVar: 1
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
133. MFN2 Portal LSDB OMIM N
Expert Curator:
Variants: 5(5) LSDB, HGMD: 170, ClinVar: 77
Mitochondrial Disease: View 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2
601152 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI; HSMN6
151800 LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL
134. MGME1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 5, ClinVar: 2
Mitochondrial Disease: View 615084 Mitochondrial DNA depletion syndrome 11, 615084 (3)
135. MPC1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 5
Mitochondrial Disease: View 614741 Mitochondrial pyruvate carrier deficiency, 614741 (3)
136. MPV17 Portal LSDB OMIM N
Expert Curator:
Variants: 19(19) LSDB, HGMD: 37, ClinVar: 29
Mitochondrial Disease: View 256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
137. MRAP2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 1
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
138. MRPL3 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 1
Mitochondrial Disease: View 614582 Combined oxidative phosphorylation deficiency 9, 614582 (3)
139. MRPL44 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 11
Mitochondrial Disease: View 615395 Combined oxidative phosphorylation deficiency 16, 615395 (3)
140. MRPS16 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 0
Mitochondrial Disease: View 610498 Combined oxidative phosphorylation deficiency 2, 610498 (3)
141. MRPS22 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 15
Mitochondrial Disease: View 611719 Combined oxidative phosphorylation deficiency 5, 611719 (3)
142. MTFMT Portal LSDB OMIM N
Expert Curator:
Variants: 8(8) LSDB, HGMD: 14, ClinVar: 17
Mitochondrial Disease: View 614947 Combined oxidative phosphorylation deficiency 15, 614947 (3)
143. MTO1 Portal LSDB OMIM N
Expert Curator:
Variants: 7(7) LSDB, HGMD: 8, ClinVar: 10
Mitochondrial Disease: View 614702 Combined oxidative phosphorylation deficiency 10, 614702 (3)
144. MTPAP Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 5
Mitochondrial Disease: View 613672 Ataxia, spastic, 4, 613672 (3)
145. MYO7A Portal LSDB OMIM N
Expert Curator:
Variants: 90(90) LSDB, HGMD: 339, ClinVar: 337
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
146. NAT2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 16, ClinVar: 5
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
147. NDUFA1 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 4, ClinVar: 6
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
148. NDUFA10 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 22
Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
149. NDUFA11 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 10
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
150. NDUFA12 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 3
Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
151. NDUFA2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 5
Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
152. NDUFA9 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 1, ClinVar: 19
Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
153. NDUFAF1 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 7, ClinVar: 24
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
154. NDUFAF2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 8, ClinVar: 13
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
155. NDUFAF3 Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 4, ClinVar: 10
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
156. NDUFAF4 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 9
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
157. NDUFAF5 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 6, ClinVar: 18
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
158. NDUFAF6 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 23
Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
159. NDUFB3 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 3
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
160. NDUFB9 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 9
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
161. NDUFS1 Portal LSDB OMIM N
Expert Curator:
Variants: 9(9) LSDB, HGMD: 19, ClinVar: 40
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
162. NDUFS2 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 18, ClinVar: 28
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
163. NDUFS3 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 10
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
164. NDUFS4 Portal LSDB OMIM N
Expert Curator:
Variants: 5(4) LSDB, HGMD: 14, ClinVar: 20
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
165. NDUFS6 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 10
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
166. NDUFS7 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 5, ClinVar: 19
Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
167. NDUFS8 Portal LSDB OMIM N
Expert Curator:
Variants: 7(7) LSDB, HGMD: 12, ClinVar: 15
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
168. NDUFV1 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 27, ClinVar: 34
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
169. NDUFV2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 5
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
556500 PARKINSON DISEASE, MITOCHONDRIAL
170. NEUROD1 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 12, ClinVar: 5
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
171. NF2 Portal LSDB OMIM N
Expert Curator:
Variants: 17(17) LSDB, HGMD: 406, ClinVar: 30
Mitochondrial Disease: View 101000 Neurofibromatosis, type 2, 101000 (3)
172. NFU1 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 11, ClinVar: 10
Mitochondrial Disease: View 605711 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
173. NUBPL Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 8, ClinVar: 24
Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
174. NUP62 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 0
Mitochondrial Disease: View 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
175. OPA1 Portal LSDB OMIM N
Expert Curator:
Variants: 24(20) LSDB, HGMD: 339, ClinVar: 107
Mitochondrial Disease: View 165500 OPTIC ATROPHY 1; OPA1
176. OPA3 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 11, ClinVar: 14
Mitochondrial Disease: View 258501 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3
177. PAX4 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 10, ClinVar: 10
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
178. PC Portal LSDB OMIM N
Expert Curator:
Variants: 32(19) LSDB, HGMD: 32, ClinVar: 62
Mitochondrial Disease: View 266150 Pyruvate carboxylase deficiency, 266150 (3)
179. PCDH15 Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 81, ClinVar: 182
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
180. PCK2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 0
Mitochondrial Disease: View 261650 PEPCK deficiency, mitochondrial, 261650 (1)
181. PDHA1 Portal LSDB OMIM N
Expert Curator:
Variants: 14(14) LSDB, HGMD: 159, ClinVar: 55
Mitochondrial Disease: View 308930 Leigh syndrome, X-linked, 308930 (3)
312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD
182. PDHB Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 12, ClinVar: 13
Mitochondrial Disease: View 614111 PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD
183. PDP1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 2, ClinVar: 6
Mitochondrial Disease: View 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD
184. PDSS1 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 20
Mitochondrial Disease: View 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2
185. PDSS2 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 14
Mitochondrial Disease: View 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3
186. PDX1 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 25, ClinVar: 14
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
187. POLG2 Portal LSDB OMIM N
Expert Curator:
Variants: 7(3) LSDB, HGMD: 11, ClinVar: 22
Mitochondrial Disease: View 610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
188. PUS1 Portal LSDB OMIM N
Expert Curator:
Variants: 4(2) LSDB, HGMD: 5, ClinVar: 26
Mitochondrial Disease: View 600462 Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
189. PYY Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 8, ClinVar: 1
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
190. RARS2 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 21, ClinVar: 55
Mitochondrial Disease: View 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6
191. RETN Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 4, ClinVar: 1
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
192. RMND1 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 6, ClinVar: 13
Mitochondrial Disease: View 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11
193. RMRP Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 117, ClinVar: 28
Mitochondrial Disease: View 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11
194. RRM2B Portal LSDB OMIM N
Expert Curator:
Variants: 21(21) LSDB, HGMD: 39, ClinVar: 58
Mitochondrial Disease: View 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, PEOA5
195. SCO1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 5, ClinVar: 16
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
196. SCO2 Portal LSDB OMIM N
Expert Curator:
Variants: 14(7) LSDB, HGMD: 29, ClinVar: 2
Mitochondrial Disease: View 604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1
197. SDHA Portal LSDB OMIM N
Expert Curator:
Variants: 8(7) LSDB, HGMD: 30, ClinVar: 39
Mitochondrial Disease: View 252011 Mitochondrial complex II deficiency, 252011 (3)
613642 Cardiomyopathy, dilated, 1GG, 613642 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
198. SDHAF1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 4, ClinVar: 7
Mitochondrial Disease: View 252011 Mitochondrial complex II deficiency, 252011 (3)
199. SERAC1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 18, ClinVar: 30
Mitochondrial Disease: View 614739 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL
200. SLC22A5 Portal LSDB OMIM N
Expert Curator:
Variants: 127(122) LSDB, HGMD: 111, ClinVar: 136
Mitochondrial Disease: View 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
201. SLC25A1 Portal LSDB OMIM N
Expert Curator:
Variants: 6(6) LSDB, HGMD: 15, ClinVar: 12
Mitochondrial Disease: View 615182 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
202. SLC25A12 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 3, ClinVar: 2
Mitochondrial Disease: View 612949 Hypomyelination, global cerebral, 612949 (3)
203. SLC25A13 Portal LSDB OMIM N
Expert Curator:
Variants: 23(21) LSDB, HGMD: 94, ClinVar: 22
Mitochondrial Disease: View 605814 Citrullinemia, type II, neonatal-onset, 605814 (3)
603471 Citrullinemia, adult-onset type II, 603471 (3)
204. SLC25A15 Portal LSDB OMIM N
Expert Curator:
Variants: 21(20) LSDB, HGMD: 34, ClinVar: 22
Mitochondrial Disease: View 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
205. SLC25A19 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 14
Mitochondrial Disease: View 607196 Microcephaly, Amish type, 607196 (3)
206. SLC25A20 Portal LSDB OMIM N
Expert Curator:
Variants: 8(8) LSDB, HGMD: 40, ClinVar: 12
Mitochondrial Disease: View 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY;CACTD
207. SLC25A22 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 3, ClinVar: 71
Mitochondrial Disease: View 609304 Epileptic encephalopathy, early infantile, 3, 609304 (3)
208. SLC25A3 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 5, ClinVar: 11
Mitochondrial Disease: View 610773 Mitochondrial phosphate carrier deficiency, 610773 (3)
209. SLC25A4 Portal LSDB OMIM N
Expert Curator:
Variants: 6(6) LSDB, HGMD: 11, ClinVar: 15
Mitochondrial Disease: View 609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3)
615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3)
210. SLC2A2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 76, ClinVar: 20
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
211. SLC2A4 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 2, ClinVar: 1
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
212. SLC30A8 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 4, ClinVar: 3
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
213. SLC6A8 Portal LSDB OMIM N
Expert Curator:
Variants: 14(13) LSDB, HGMD: 122, ClinVar: 35
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
214. SOD2 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 5, ClinVar: 2
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
215. SUCLA2 Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 15, ClinVar: 36
Mitochondrial Disease: View 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
216. SUCLG1 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 19, ClinVar: 25
Mitochondrial Disease: View 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
217. SURF1 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 95, ClinVar: 43
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
218. TACO1 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 2, ClinVar: 9
Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
219. TAZ Portal LSDB OMIM N
Expert Curator:
Variants: 345(206) LSDB, HGMD: 127, ClinVar: 50
Mitochondrial Disease: View 302060 BARTH SYNDROME; BTHS
220. TCF7L2 Portal LSDB OMIM N
Expert Curator:
Variants: 5(4) LSDB, HGMD: 7, ClinVar: 4
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
221. TIMM8A Portal LSDB OMIM N
Expert Curator:
Variants: 6(6) LSDB, HGMD: 21, ClinVar: 16
Mitochondrial Disease: View 304700 Mohr-Tranebjaerg syndrome, 304700 (3)
222. TK2 Portal LSDB OMIM N
Expert Curator:
Variants: 40(35) LSDB, HGMD: 42, ClinVar: 50
Mitochondrial Disease: View 609560 Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
223. TMEM70 Portal LSDB OMIM N
Expert Curator:
Variants: 3(3) LSDB, HGMD: 18, ClinVar: 23
Mitochondrial Disease: View 614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
224. TRMU Portal LSDB OMIM N
Expert Curator:
Variants: 5(5) LSDB, HGMD: 16, ClinVar: 42
Mitochondrial Disease: View 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED
613070 Liver failure, transient infantile, 613070 (3)
225. TRNT1 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 13, ClinVar: 6
Mitochondrial Disease: View 613070 Liver failure, transient infantile, 613070 (3)
226. TSFM Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 10
Mitochondrial Disease: View 610505 Combined oxidative phosphorylation deficiency 3, 610505 (3)
227. TTC19 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 9, ClinVar: 25
Mitochondrial Disease: View 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
228. TUFM Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 4, ClinVar: 15
Mitochondrial Disease: View 610678 Combined oxidative phosphorylation deficiency 4, 610678 (3)
229. TYMP Portal LSDB OMIM N
Expert Curator:
Variants: 9(9) LSDB, HGMD: 85, ClinVar: 35
Mitochondrial Disease: View 603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
230. UCP1 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 7, ClinVar: 1
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
231. UCP3 Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 9, ClinVar: 4
Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
232. UQCRB Portal LSDB OMIM N
Expert Curator:
Variants: 0(0) LSDB, HGMD: 1, ClinVar: 7
Mitochondrial Disease: View 124000 Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)
615158 Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)
233. UQCRC2 Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 0
Mitochondrial Disease: View 615160 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
234. UQCRQ Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 1, ClinVar: 7
Mitochondrial Disease: View 615159 Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
235. USH1C Portal LSDB OMIM N
Expert Curator:
Variants: 4(4) LSDB, HGMD: 38, ClinVar: 108
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
236. USH1G Portal LSDB OMIM N
Expert Curator:
Variants: 1(1) LSDB, HGMD: 19, ClinVar: 27
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
237. USH2A Portal LSDB OMIM N
Expert Curator:
Variants: 64(64) LSDB, HGMD: 740, ClinVar: 489
Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
238. WFS1 Portal LSDB OMIM N
Expert Curator:
Variants: 2(2) LSDB, HGMD: 313, ClinVar: 233
Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
239. YARS2 Portal LSDB OMIM N
Expert Curator:
Variants: 6(6) LSDB, HGMD: 8, ClinVar: 23
Mitochondrial Disease: View 613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2