ClinVar for MedGen (Select 1713991) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1438531	NM_005184.4(CALM3):c.4-3C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 839631	NM_005184.4(CALM3):c.179-3del	CALM3	Deletion (intron variant)	Long QT syndrome 16 +1 more	GUncertain significance
Select item 812678	NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)	CALM3 (E141K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 16 +1 more	GPathogenic
Select item 812676	NM_005184.4(CALM3):c.389A>G (p.Asp130Gly)	CALM3 (D130G +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 16	GPathogenic
Select item 678454	NM_005184.4(CALM3):c.178+66T>C	CALM3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 678453	NM_005184.4(CALM3):c.4-73T>C	CALM3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 409869	NM_005184.4(CALM3):c.421+4A>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 16 +2 more	GConflicting classifications of pathogenicity
Select item 240118	NM_005184.4(CALM3):c.390C>T (p.Asp130=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 16 +4 more	GBenign

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