ClinVar for MedGen (Select 1824081) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443765	NM_017644.3(KLHL24):c.917G>A (p.Arg306His)	KLHL24 (R306H)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	GPathogenic
Select item 2443764	NM_017644.3(KLHL24):c.1048G>T (p.Glu350Ter)	KLHL24 (E350* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	GPathogenic