ClinVar for MedGen (Select 231285) - 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	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Kearns-Sayre syndrome, MERRF syndrome, Leigh syndrome, Progressive external ophthalmoplegia, Leber optic atrophy, NARP syndrome	not provided	no assertion provided
Select item 6930472.	NC_012920.1(MT-ATP6):m.8993_8994inv GRCh37: ChrMT:8993-8994 GRCh38: ChrMT:8993-8994	MT-ATP6	NARP syndrome	Pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 5851203.	NC_012920.1:m.8686T>C GRCh37: ChrMT:8686 GRCh38: ChrMT:8686	MT-ATP6	Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 96484.	m.8618dupT GRCh37: ChrMT:8617-8618 GRCh38: ChrMT:8617-8618	MT-ATP6	NARP syndrome	Pathogenic (Jan 1, 2009)	no assertion criteria provided
Select item 96425.	NC_012920.1:m.8993T>C GRCh37: ChrMT:8993 GRCh38: ChrMT:8993	MT-ATP6	Mitochondrial disease	Pathogenic (Feb 17, 2021)	reviewed by expert panel FDA Recognized Database
Select item 96416.	NC_012920.1:m.8993T>G GRCh37: ChrMT:8993 GRCh38: ChrMT:8993	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY	Mitochondrial disease	Pathogenic (Mar 22, 2021)	reviewed by expert panel FDA Recognized Database

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