ClinVar for OMIM (Select 114217) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14421	NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp)	KCNH2 (N470D +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GPathogenic
Select item 3627	NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)	MPO (Y173C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic