ClinVar for MedGen (Select 759352) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559417	NM_176818.3(GATC):c.233T>G (p.Met78Arg)	GATC, LOC112163529 (M78R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 559416	NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu)	QRSL1 (A427L)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559415	NM_018292.5(QRSL1):c.587_596delinsACAAAAATCA (p.Thr196_Pro199delinsAsnLysAsnHis)	QRSL1	Indel (missense variant)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 559414	NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)	QRSL1 (G133V)	Single nucleotide variant (missense variant)	Cardiomyopathy, mitochondrial +1 more	GPathogenic/Likely pathogenic
Select item 559413	NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)	QRSL1 (Y185*)	Single nucleotide variant (nonsense)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 559412	NM_004564.3(GATB):c.408T>G (p.Phe136Leu)	GATB (F136L)	Single nucleotide variant (missense variant)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 559411	NM_004564.3(GATB):c.580_581del (p.Ser194fs)	GATB (S194fs)	Deletion (frameshift variant)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 9588	m.12297T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign

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