MSeqDR Expert Panel Gene Curation Work List

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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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1. MT-ATP6 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 66(66) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 12(12) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 82(82) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 36(36) , HGMD: , ClinVar: 5 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)	5. MT-CO3 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 54(54) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 90(90) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 87(87) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 49(49) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 24(24) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 73(73) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 22(22) , HGMD: , ClinVar: 2 Mitochondrial Disease: View 535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705	12. MT-ND5 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 135(135) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 43(43) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 108(108) , HGMD: , ClinVar: 46 Mitochondrial Disease: View 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED	15. MT-RNR2 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 104(104) , HGMD: , ClinVar: 2 Mitochondrial Disease: View 515000 CHLORAMPHENICOL TOXICITY;ANEMIA, CHLORAMPHENICOL-INDUCED;CHLORAMPHENICOL RESISTANCE, INCLUDED
16. MT-TA N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 6(6) , HGMD: , ClinVar: 4 Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia	17. MT-TC N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 10(10) , HGMD: , ClinVar: 2 Mitochondrial Disease: View 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687	18. MT-TE N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 12(12) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 18(18) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 9(9) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 22(22) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 23(23) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 34(34) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 14(14) , HGMD: , ClinVar: 3 Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia
25. MT-TM N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 8(8) , HGMD: , ClinVar: 1 Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia	26. MT-TN N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 7(7) , HGMD: , ClinVar: 3 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) 252010 Mitochondrial complex I deficiency, 252010 (3)	27. MT-TQ N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 16(16) , HGMD: , ClinVar: 3 Mitochondrial Disease: View 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
28. MT-TS1 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 23(23) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 11(11) , 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 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 12(12) , HGMD: , ClinVar: 3 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
31. MT-TW N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 16(16) , 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 N Expert Curator: Renkui Bai; Marni Falk; Lishuang Shen; XiaowuGai Variants: 210(209) , 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 N Expert Curator: Variants: 3(3) , HGMD: 14, ClinVar: 56 Mitochondrial Disease: View 614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8
34. ABCC8 N Expert Curator: Variants: 3(3) , HGMD: 580, ClinVar: 123 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	35. ACAD9 N Expert Curator: Variants: 8(8) , HGMD: 21, ClinVar: 51 Mitochondrial Disease: View 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF	36. ACADM N Expert Curator: Variants: 13(12) , HGMD: 159, ClinVar: 60 Mitochondrial Disease: View 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
37. ACADS N Expert Curator: Variants: 24(18) , HGMD: 61, ClinVar: 42 Mitochondrial Disease: View 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD	38. ACADVL N Expert Curator: Variants: 50(39) , HGMD: 173, ClinVar: 104 Mitochondrial Disease: View 201460 MOVED TO 201475 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD	39. ACAT1 N Expert Curator: Variants: 13(13) , HGMD: 65, ClinVar: 38 Mitochondrial Disease: View 203750 ALPHA-METHYLACETOACETIC ACIDURIA
40. ACO2 N Expert Curator: Variants: 0(0) , HGMD: 7, ClinVar: 16 Mitochondrial Disease: View 614559 Infantile cerebellar-retinal degeneration, 614559 (3)??mitochondrial?	41. ADCK3 N Expert Curator: Variants: 12(12) , HGMD: 29, ClinVar: 57 Mitochondrial Disease: View 612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4	42. ADRB2 N Expert Curator: Variants: 1(1) , HGMD: 8, ClinVar: 4 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
43. ADRB3 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)	44. AFG3L2 N Expert Curator: Variants: 0(0) , HGMD: 21, ClinVar: 32 Mitochondrial Disease: View 610246 SPINOCEREBELLAR ATAXIA 28; SCA28	45. AGK N Expert Curator: Variants: 2(2) , HGMD: 19, ClinVar: 31 Mitochondrial Disease: View 212350 SENGERS SYNDROME
46. AIFM1 N Expert Curator: Variants: 1(1) , HGMD: 18, ClinVar: 33 Mitochondrial Disease: View 300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6	47. AK2 N Expert Curator: Variants: 10(10) , HGMD: 14, ClinVar: 17 Mitochondrial Disease: View 267500 Reticular dysgenesis, 267500 (3)	48. AKT2 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 6 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
49. ALDH2 N Expert Curator: Variants: 2(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 610251 Alcohol sensitivity, acute, 610251 (3)	50. APOPT1 N Expert Curator: Variants: 0(0) , HGMD: 5, ClinVar: 4 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)	51. ATP5A1 N Expert Curator: Variants: 1(1) , HGMD: 3, ClinVar: 3 Mitochondrial Disease: View 615228 Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3)
52. ATP5E N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 0 Mitochondrial Disease: View 614053 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)	53. ATPAF2 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 14 Mitochondrial Disease: View 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)	54. AUH N Expert Curator: Variants: 4(4) , HGMD: 11, ClinVar: 28 Mitochondrial Disease: View 250950 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1
55. BCS1L N Expert Curator: Variants: 17(17) , 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 N Expert Curator: Variants: 0(0) , HGMD: 3, ClinVar: 5 Mitochondrial Disease: View 614299 Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)	57. C10orf2 N Expert Curator: Variants: 24(24) , 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 N Expert Curator: Variants: 2(2) , HGMD: 9, ClinVar: 14 Mitochondrial Disease: View 613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7	59. C19orf12 N Expert Curator: Variants: 12(10) , HGMD: 34, ClinVar: 14 Mitochondrial Disease: View 614298 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4	60. CAPN10 N Expert Curator: Variants: 1(1) , HGMD: 7, ClinVar: 4 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
61. CARTPT N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)	62. CDH23 N Expert Curator: Variants: 25(25) , HGMD: 237, ClinVar: 344 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	63. CDKAL1 N Expert Curator: Variants: 3(3) , HGMD: 1, ClinVar: 2 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
64. CHKB N Expert Curator: Variants: 2(2) , HGMD: 16, ClinVar: 0 Mitochondrial Disease: View 602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC	65. CISD2 N Expert Curator: Variants: 0(0) , HGMD: 3, ClinVar: 0 Mitochondrial Disease: View 604928 WOLFRAM SYNDROME 2; WFS2	66. CLRN1 N Expert Curator: Variants: 5(5) , HGMD: 28, ClinVar: 22 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
67. COA5 N Expert Curator: Variants: 0(0) , HGMD: 1, ClinVar: 1 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)	68. COQ2 N Expert Curator: Variants: 4(4) , HGMD: 25, ClinVar: 36 Mitochondrial Disease: View 607426 Coenzyme Q10 deficiency, primary, 1, 607426 (3)	69. COQ6 N Expert Curator: Variants: 4(4) , HGMD: 9, ClinVar: 13 Mitochondrial Disease: View 614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6
70. COQ9 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 19 Mitochondrial Disease: View 614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5	71. COX10 N Expert Curator: Variants: 5(5) , 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 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 3 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
73. COX15 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 27 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)	74. COX20 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 2 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)	75. COX6B1 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 6 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
76. CPS1 N Expert Curator: Variants: 12(11) , 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 N Expert Curator: Variants: 34(33) , HGMD: 41, ClinVar: 52 Mitochondrial Disease: View 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY	78. CPT2 N Expert Curator: Variants: 14(14) , 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 N Expert Curator: Variants: 2(2) , HGMD: 2, ClinVar: 2 Mitochondrial Disease: View 615453 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)	80. DARS2 N Expert Curator: Variants: 19(19) , HGMD: 54, ClinVar: 22 Mitochondrial Disease: View 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND	81. DFNB31 N Expert Curator: Variants: 2(2) , HGMD: 19, ClinVar: 84 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
82. DGUOK N Expert Curator: Variants: 5(5) , HGMD: 57, ClinVar: 24 Mitochondrial Disease: View 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)	83. DLAT N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 20 Mitochondrial Disease: View 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD	84. DNA2 N Expert Curator: Variants: 0(0) , HGMD: 5, ClinVar: 5 Mitochondrial Disease: View 615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, PEOA6
85. DNAJC19 N Expert Curator: Variants: 4(2) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 610198 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5	86. DNM1L N Expert Curator: Variants: 1(1) , HGMD: 3, ClinVar: 7 Mitochondrial Disease: View 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3)	87. ENPP1 N Expert Curator: Variants: 2(2) , HGMD: 63, ClinVar: 30 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
88. ETFA N Expert Curator: Variants: 3(3) , HGMD: 28, ClinVar: 17 Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD	89. ETFB N Expert Curator: Variants: 2(2) , HGMD: 13, ClinVar: 24 Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD	90. ETFDH N Expert Curator: Variants: 0(0) , HGMD: 146, ClinVar: 50 Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
91. FARS2 N Expert Curator: Variants: 3(3) , HGMD: 8, ClinVar: 24 Mitochondrial Disease: View 614946 Combined oxidative phosphorylation deficiency 14, 614946 (3)	92. FASTKD2 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 23 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)	93. FBXL4 N Expert Curator: Variants: 5(5) , HGMD: 11, ClinVar: 6 Mitochondrial Disease: View 615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);MTDPS13
94. FOXRED1 N Expert Curator: Variants: 3(3) , 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 N Expert Curator: Variants: 0(0) , HGMD: 62, ClinVar: 13 Mitochondrial Disease: View 229300 FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED	96. GAMT N Expert Curator: Variants: 13(9) , HGMD: 53, ClinVar: 62 Mitochondrial Disease: View 229300 FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
97. GATM N Expert Curator: Variants: 6(5) , HGMD: 7, ClinVar: 34 Mitochondrial Disease: View 612718 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3	98. GCGR N Expert Curator: Variants: 1(1) , HGMD: 3, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	99. GCK N Expert Curator: Variants: 0(0) , HGMD: 759, ClinVar: 146 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
100. GFER N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 13 Mitochondrial Disease: View 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)	101. GFM1 N Expert Curator: Variants: 4(4) , HGMD: 13, ClinVar: 38 Mitochondrial Disease: View 609060 Combined oxidative phosphorylation deficiency 1, 609060 (3)	102. GHRL N Expert Curator: Variants: 2(2) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
103. GJB2 N Expert Curator: Variants: 0(0) , HGMD: 365, ClinVar: 145 Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A	104. GJB3 N Expert Curator: Variants: 0(0) , HGMD: 37, ClinVar: 31 Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A	105. GJB6 N Expert Curator: Variants: 0(0) , HGMD: 24, ClinVar: 21 Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
106. GPD2 N Expert Curator: Variants: 1(1) , HGMD: 5, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	107. HADH N Expert Curator: Variants: 2(2) , HGMD: 22, ClinVar: 14 Mitochondrial Disease: View 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE; HADH	108. HADHA N Expert Curator: Variants: 7(7) , HGMD: 61, ClinVar: 21 Mitochondrial Disease: View 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
109. HADHB N Expert Curator: Variants: 6(6) , HGMD: 53, ClinVar: 21 Mitochondrial Disease: View 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY	110. HARS2 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 17 Mitochondrial Disease: View 614926 PERRAULT SYNDROME 2; PRLTS2	111. HMGA1 N Expert Curator: Variants: 0(0) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
112. HMGCS2 N Expert Curator: Variants: 6(6) , HGMD: 26, ClinVar: 11 Mitochondrial Disease: View 605911 HMG-CoA synthase-2 deficiency, 605911 (3);MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	113. HNF1B N Expert Curator: Variants: 2(2) , HGMD: 172, ClinVar: 39 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	114. HNF4A N Expert Curator: Variants: 1(1) , HGMD: 142, ClinVar: 39 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
115. HSPD1 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 20 Mitochondrial Disease: View 612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4	116. IBA57 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 2 Mitochondrial Disease: View 615330 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)	117. IDH2 N Expert Curator: Variants: 2(2) , HGMD: 2, ClinVar: 14 Mitochondrial Disease: View 613657 D-2-hydroxyglutaric aciduria 2, 613657 (3)
118. IGF2BP2 N Expert Curator: Variants: 1(1) , HGMD: , ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	119. IL6 N Expert Curator: Variants: 0(0) , HGMD: 9, ClinVar: 2 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	120. INSR N Expert Curator: Variants: 3(3) , HGMD: 163, ClinVar: 55 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
121. IRS1 N Expert Curator: Variants: 2(2) , HGMD: 23, ClinVar: 3 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	122. ISCU N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 255125 MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML	123. KANK1 N Expert Curator: Variants: 0(0) , HGMD: 7, ClinVar: 14 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
124. KCNJ11 N Expert Curator: Variants: 1(1) , HGMD: 159, ClinVar: 76 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	125. LARS2 N Expert Curator: Variants: 4(4) , HGMD: 4, ClinVar: 5 Mitochondrial Disease: View 615300 Perrault syndrome 4, 615300 (3)	126. LEPR N Expert Curator: Variants: 4(4) , HGMD: 29, ClinVar: 8 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
127. LIAS N Expert Curator: Variants: 1(1) , HGMD: 3, ClinVar: 22 Mitochondrial Disease: View 614462 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD	128. LIPC N Expert Curator: Variants: 2(2) , HGMD: 19, ClinVar: 6 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	129. LRPPRC N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 72 Mitochondrial Disease: View 220111 Leigh syndrome, French-Canadian type, 220111 (3)
130. MAPK8IP1 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	131. MC4R N Expert Curator: Variants: 22(22) , HGMD: 156, ClinVar: 33 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)	132. ME2 N Expert Curator: Variants: 0(0) , HGMD: , ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
133. MFN2 N Expert Curator: Variants: 5(5) , 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 N Expert Curator: Variants: 2(2) , HGMD: 5, ClinVar: 2 Mitochondrial Disease: View 615084 Mitochondrial DNA depletion syndrome 11, 615084 (3)	135. MPC1 N Expert Curator: Variants: 2(2) , HGMD: 2, ClinVar: 5 Mitochondrial Disease: View 614741 Mitochondrial pyruvate carrier deficiency, 614741 (3)
136. MPV17 N Expert Curator: Variants: 19(19) , HGMD: 37, ClinVar: 29 Mitochondrial Disease: View 256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)	137. MRAP2 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)	138. MRPL3 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 614582 Combined oxidative phosphorylation deficiency 9, 614582 (3)
139. MRPL44 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 11 Mitochondrial Disease: View 615395 Combined oxidative phosphorylation deficiency 16, 615395 (3)	140. MRPS16 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 0 Mitochondrial Disease: View 610498 Combined oxidative phosphorylation deficiency 2, 610498 (3)	141. MRPS22 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 15 Mitochondrial Disease: View 611719 Combined oxidative phosphorylation deficiency 5, 611719 (3)
142. MTFMT N Expert Curator: Variants: 8(8) , HGMD: 14, ClinVar: 17 Mitochondrial Disease: View 614947 Combined oxidative phosphorylation deficiency 15, 614947 (3)	143. MTO1 N Expert Curator: Variants: 7(7) , HGMD: 8, ClinVar: 10 Mitochondrial Disease: View 614702 Combined oxidative phosphorylation deficiency 10, 614702 (3)	144. MTPAP N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 5 Mitochondrial Disease: View 613672 Ataxia, spastic, 4, 613672 (3)
145. MYO7A N Expert Curator: Variants: 90(90) , HGMD: 339, ClinVar: 337 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	146. NAT2 N Expert Curator: Variants: 0(0) , HGMD: 16, ClinVar: 5 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	147. NDUFA1 N Expert Curator: Variants: 3(3) , HGMD: 4, ClinVar: 6 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
148. NDUFA10 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 22 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)	149. NDUFA11 N Expert Curator: Variants: 0(0) , HGMD: 1, ClinVar: 10 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)	150. NDUFA12 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 3 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
151. NDUFA2 N Expert Curator: Variants: 0(0) , HGMD: 2, ClinVar: 5 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)	152. NDUFA9 N Expert Curator: Variants: 2(2) , HGMD: 1, ClinVar: 19 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)	153. NDUFAF1 N Expert Curator: Variants: 3(3) , HGMD: 7, ClinVar: 24 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
154. NDUFAF2 N Expert Curator: Variants: 1(1) , 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 N Expert Curator: Variants: 4(4) , HGMD: 4, ClinVar: 10 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)	156. NDUFAF4 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
157. NDUFAF5 N Expert Curator: Variants: 2(2) , HGMD: 6, ClinVar: 18 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)	158. NDUFAF6 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 23 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)	159. NDUFB3 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 3 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
160. NDUFB9 N Expert Curator: Variants: 0(0) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)	161. NDUFS1 N Expert Curator: Variants: 9(9) , HGMD: 19, ClinVar: 40 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)	162. NDUFS2 N Expert Curator: Variants: 3(3) , HGMD: 18, ClinVar: 28 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
163. NDUFS3 N Expert Curator: Variants: 2(2) , 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 N Expert Curator: Variants: 5(4) , 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 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 10 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
166. NDUFS7 N Expert Curator: Variants: 2(2) , HGMD: 5, ClinVar: 19 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)	167. NDUFS8 N Expert Curator: Variants: 7(7) , 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 N Expert Curator: Variants: 3(3) , HGMD: 27, ClinVar: 34 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
169. NDUFV2 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 5 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) 556500 PARKINSON DISEASE, MITOCHONDRIAL	170. NEUROD1 N Expert Curator: Variants: 1(1) , HGMD: 12, ClinVar: 5 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	171. NF2 N Expert Curator: Variants: 17(17) , HGMD: 406, ClinVar: 30 Mitochondrial Disease: View 101000 Neurofibromatosis, type 2, 101000 (3)
172. NFU1 N Expert Curator: Variants: 1(1) , HGMD: 11, ClinVar: 10 Mitochondrial Disease: View 605711 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)	173. NUBPL N Expert Curator: Variants: 4(4) , HGMD: 8, ClinVar: 24 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)	174. NUP62 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 0 Mitochondrial Disease: View 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
175. OPA1 N Expert Curator: Variants: 24(20) , HGMD: 339, ClinVar: 107 Mitochondrial Disease: View 165500 OPTIC ATROPHY 1; OPA1	176. OPA3 N Expert Curator: Variants: 3(3) , HGMD: 11, ClinVar: 14 Mitochondrial Disease: View 258501 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3	177. PAX4 N Expert Curator: Variants: 1(1) , HGMD: 10, ClinVar: 10 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
178. PC N Expert Curator: Variants: 32(19) , HGMD: 32, ClinVar: 62 Mitochondrial Disease: View 266150 Pyruvate carboxylase deficiency, 266150 (3)	179. PCDH15 N Expert Curator: Variants: 4(4) , HGMD: 81, ClinVar: 182 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	180. PCK2 N Expert Curator: Variants: 0(0) , HGMD: 2, ClinVar: 0 Mitochondrial Disease: View 261650 PEPCK deficiency, mitochondrial, 261650 (1)
181. PDHA1 N Expert Curator: Variants: 14(14) , HGMD: 159, ClinVar: 55 Mitochondrial Disease: View 308930 Leigh syndrome, X-linked, 308930 (3) 312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD	182. PDHB N Expert Curator: Variants: 2(2) , HGMD: 12, ClinVar: 13 Mitochondrial Disease: View 614111 PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD	183. PDP1 N Expert Curator: Variants: 2(2) , HGMD: 2, ClinVar: 6 Mitochondrial Disease: View 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD
184. PDSS1 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 20 Mitochondrial Disease: View 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2	185. PDSS2 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 14 Mitochondrial Disease: View 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3	186. PDX1 N Expert Curator: Variants: 0(0) , HGMD: 25, ClinVar: 14 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
187. POLG2 N Expert Curator: Variants: 7(3) , HGMD: 11, ClinVar: 22 Mitochondrial Disease: View 610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)	188. PUS1 N Expert Curator: Variants: 4(2) , HGMD: 5, ClinVar: 26 Mitochondrial Disease: View 600462 Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)	189. PYY N Expert Curator: Variants: 1(1) , HGMD: 8, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
190. RARS2 N Expert Curator: Variants: 3(3) , HGMD: 21, ClinVar: 55 Mitochondrial Disease: View 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6	191. RETN N Expert Curator: Variants: 0(0) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	192. RMND1 N Expert Curator: Variants: 3(3) , HGMD: 6, ClinVar: 13 Mitochondrial Disease: View 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11
193. RMRP N Expert Curator: Variants: 0(0) , HGMD: 117, ClinVar: 28 Mitochondrial Disease: View 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11	194. RRM2B N Expert Curator: Variants: 21(21) , 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 N Expert Curator: Variants: 2(2) , HGMD: 5, ClinVar: 16 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
196. SCO2 N Expert Curator: Variants: 14(7) , HGMD: 29, ClinVar: 2 Mitochondrial Disease: View 604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1	197. SDHA N Expert Curator: Variants: 8(7) , 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 N Expert Curator: Variants: 2(2) , HGMD: 4, ClinVar: 7 Mitochondrial Disease: View 252011 Mitochondrial complex II deficiency, 252011 (3)
199. SERAC1 N Expert Curator: Variants: 2(2) , HGMD: 18, ClinVar: 30 Mitochondrial Disease: View 614739 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL	200. SLC22A5 N Expert Curator: Variants: 127(122) , HGMD: 111, ClinVar: 136 Mitochondrial Disease: View 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP	201. SLC25A1 N Expert Curator: Variants: 6(6) , HGMD: 15, ClinVar: 12 Mitochondrial Disease: View 615182 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
202. SLC25A12 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 2 Mitochondrial Disease: View 612949 Hypomyelination, global cerebral, 612949 (3)	203. SLC25A13 N Expert Curator: Variants: 23(21) , 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 N Expert Curator: Variants: 21(20) , HGMD: 34, ClinVar: 22 Mitochondrial Disease: View 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
205. SLC25A19 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 14 Mitochondrial Disease: View 607196 Microcephaly, Amish type, 607196 (3)	206. SLC25A20 N Expert Curator: Variants: 8(8) , HGMD: 40, ClinVar: 12 Mitochondrial Disease: View 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY;CACTD	207. SLC25A22 N Expert Curator: Variants: 3(3) , HGMD: 3, ClinVar: 71 Mitochondrial Disease: View 609304 Epileptic encephalopathy, early infantile, 3, 609304 (3)
208. SLC25A3 N Expert Curator: Variants: 1(1) , HGMD: 5, ClinVar: 11 Mitochondrial Disease: View 610773 Mitochondrial phosphate carrier deficiency, 610773 (3)	209. SLC25A4 N Expert Curator: Variants: 6(6) , 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 N Expert Curator: Variants: 1(1) , HGMD: 76, ClinVar: 20 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
211. SLC2A4 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	212. SLC30A8 N Expert Curator: Variants: 3(3) , HGMD: 4, ClinVar: 3 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	213. SLC6A8 N Expert Curator: Variants: 14(13) , HGMD: 122, ClinVar: 35 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)
214. SOD2 N Expert Curator: Variants: 0(0) , HGMD: 5, ClinVar: 2 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	215. SUCLA2 N Expert Curator: Variants: 4(4) , HGMD: 15, ClinVar: 36 Mitochondrial Disease: View 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)	216. SUCLG1 N Expert Curator: Variants: 3(3) , HGMD: 19, ClinVar: 25 Mitochondrial Disease: View 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
217. SURF1 N Expert Curator: Variants: 3(3) , 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 N Expert Curator: Variants: 0(0) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)	219. TAZ N Expert Curator: Variants: 345(206) , HGMD: 127, ClinVar: 50 Mitochondrial Disease: View 302060 BARTH SYNDROME; BTHS
220. TCF7L2 N Expert Curator: Variants: 5(4) , HGMD: 7, ClinVar: 4 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	221. TIMM8A N Expert Curator: Variants: 6(6) , HGMD: 21, ClinVar: 16 Mitochondrial Disease: View 304700 Mohr-Tranebjaerg syndrome, 304700 (3)	222. TK2 N Expert Curator: Variants: 40(35) , HGMD: 42, ClinVar: 50 Mitochondrial Disease: View 609560 Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
223. TMEM70 N Expert Curator: Variants: 3(3) , HGMD: 18, ClinVar: 23 Mitochondrial Disease: View 614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)	224. TRMU N Expert Curator: Variants: 5(5) , HGMD: 16, ClinVar: 42 Mitochondrial Disease: View 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED 613070 Liver failure, transient infantile, 613070 (3)	225. TRNT1 N Expert Curator: Variants: 0(0) , HGMD: 13, ClinVar: 6 Mitochondrial Disease: View 613070 Liver failure, transient infantile, 613070 (3)
226. TSFM N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 10 Mitochondrial Disease: View 610505 Combined oxidative phosphorylation deficiency 3, 610505 (3)	227. TTC19 N Expert Curator: Variants: 1(1) , HGMD: 9, ClinVar: 25 Mitochondrial Disease: View 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)	228. TUFM N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 15 Mitochondrial Disease: View 610678 Combined oxidative phosphorylation deficiency 4, 610678 (3)
229. TYMP N Expert Curator: Variants: 9(9) , HGMD: 85, ClinVar: 35 Mitochondrial Disease: View 603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)	230. UCP1 N Expert Curator: Variants: 0(0) , HGMD: 7, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)	231. UCP3 N Expert Curator: Variants: 0(0) , HGMD: 9, ClinVar: 4 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
232. UQCRB N Expert Curator: Variants: 0(0) , 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 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 0 Mitochondrial Disease: View 615160 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)	234. UQCRQ N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 7 Mitochondrial Disease: View 615159 Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
235. USH1C N Expert Curator: Variants: 4(4) , HGMD: 38, ClinVar: 108 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	236. USH1G N Expert Curator: Variants: 1(1) , HGMD: 19, ClinVar: 27 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	237. USH2A N Expert Curator: Variants: 64(64) , HGMD: 740, ClinVar: 489 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
238. WFS1 N Expert Curator: Variants: 2(2) , HGMD: 313, ClinVar: 233 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)	239. YARS2 N Expert Curator: Variants: 6(6) , HGMD: 8, ClinVar: 23 Mitochondrial Disease: View 613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

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