ClinVar for MedGen (Select 9618) - ClinVar

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25018081.	NC_012920.1(MT-CYB):m.15485C>T GRCh37: ChrMT:15485 GRCh38: ChrMT:15485	MT-CYB	Kearns-Sayre syndrome, Leber optic atrophy, MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, NARP syndrome, Leigh syndrome, Progressive external ophthalmoplegia	not provided	no assertion provided
Select item 6900702.	NC_012920.1(MT-CYB):m.8319A>G GRCh37: ChrMT:8319 GRCh38: ChrMT:8319	MT-TK	Kearns-Sayre syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Feb 25, 2022)	criteria provided, conflicting interpretations
Select item 4306803.	NC_012920.1:m.8483_13459del4977 GRCh37: ChrMT:8470-13446 GRCh38: ChrMT:8470-13446	MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2, MT-CO3, MT-ND3, MT-ND4, MT-ATP6, MT-ATP8, MT-ND4L, MT-ND5	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 95994.	m.3249G>A GRCh37: ChrMT:3249 GRCh38: ChrMT:3249	MT-TL1	Kearns-Sayre syndrome	Pathogenic (Jun 11, 2010)	no assertion criteria provided
Select item 95525.	m.5877C>T GRCh37: ChrMT:5877 GRCh38: ChrMT:5877	MT-TY	Kearns-Sayre syndrome	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 95516.	m.5888delT GRCh37: ChrMT:5885 GRCh38: ChrMT:5885	MT-TY	Kearns-Sayre syndrome	Pathogenic (Dec 26, 2001)	no assertion criteria provided

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