ClinVar for MedGen (Select 864132) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500174	NM_001743.6(CALM2):c.313G>C (p.Glu105Gln)	CALM2 (E105Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 15	GLikely pathogenic
Select item 2500009	NM_001743.6(CALM2):c.104C>A (p.Thr35Asn)	CALM2 (T35N +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 15	GUncertain significance
Select item 1806166	NM_001305624.1(CALM2):c.8G>A (p.Arg3His)	CALM2 (R3H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 15	GUncertain significance
Select item 1709364	NM_001743.6(CALM2):c.-56G>A	CALM2 (E15K)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome 15	GUncertain significance
Select item 1304927	NM_001743.6(CALM2):c.420A>G (p.Glu140=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 15 +3 more	GUncertain significance
Select item 812710	NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)	CALM2 (D130G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 674616	NM_001743.6(CALM2):c.421+97G>C	CALM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674615	NM_001743.6(CALM2):c.421+96T>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 15 +1 more	GBenign
Select item 488476	NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	CALM2 (N102K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 15	GPathogenic
Select item 448971	NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)	CALM2 (D134N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 183233	NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	CALM2 (D96V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 96724	NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)	CALM2 (Q136P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 96723	NM_001743.6(CALM2):c.400G>C (p.Asp134His)	CALM2 (D134H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 96722	NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)	CALM2 (D132E +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 15	GPathogenic
Select item 96721	NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	CALM2 (N98I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 96720	NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	CALM2 (N98S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic