CALM2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 576319	NM_001743.6(CALM2):c.434T>G (p.Met145Arg)	CALM2 (M109R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 1467722	NM_001743.6(CALM2):c.423G>C (p.Glu141Asp)	CALM2 (E105D +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
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 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 1067140	NM_001743.6(CALM2):c.397G>A (p.Gly133Ser)	CALM2 (G133S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely 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 955533	NM_001743.6(CALM2):c.395A>G (p.Asp132Gly)	CALM2 (D132G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 1456260	NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr)	CALM2 (D180Y +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
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 1398892	NM_001743.6(CALM2):c.388G>A (p.Asp130Asn)	CALM2 (D130N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 1327459	NM_001743.6(CALM2):c.340G>A (p.Gly114Arg)	CALM2 (G114R +2 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GPathogenic
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 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 more	GPathogenic
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 641544	NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)	CALM2 (D144Y +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 2734184	NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)	CALM2 (F138L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic