"Ambry Genetics"[submitter] AND "LOC349160"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2286977	NM_001006630.2(CHRM2):c.115A>T (p.Ile39Phe)	CHRM2, LOC349160 (I39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1419599	NM_001006630.2(CHRM2):c.426G>A (p.Met142Ile)	LOC349160, CHRM2 (M142I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2541831	NM_001006630.2(CHRM2):c.525G>T (p.Glu175Asp)	CHRM2, LOC349160 (E175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307058	NM_001006630.2(CHRM2):c.649A>G (p.Ile217Val)	CHRM2, LOC349160 (I217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255068	NM_001006630.2(CHRM2):c.660C>G (p.Asp220Glu)	CHRM2, LOC349160 (D220E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559652	NM_001006630.2(CHRM2):c.669G>C (p.Glu223Asp)	CHRM2, LOC349160 (E223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 424081	NM_001006630.2(CHRM2):c.674T>A (p.Val225Asp)	CHRM2, LOC349160 (V225D)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 2410643	NM_001006630.2(CHRM2):c.688C>A (p.Pro230Thr)	CHRM2, LOC349160 (P230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2056012	NM_001006630.2(CHRM2):c.713G>C (p.Gly238Ala)	CHRM2, LOC349160 (G238A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3144585	NM_001006630.2(CHRM2):c.745C>T (p.Pro249Ser)	CHRM2, LOC349160 (P249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 652209	NM_001006630.2(CHRM2):c.761G>T (p.Gly254Val)	CHRM2, LOC349160 (G254V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 570391	NM_001006630.2(CHRM2):c.973A>T (p.Ile325Phe)	CHRM2, LOC349160 (I325F)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +1 more	GUncertain significance
Select item 1017967	NM_001006630.2(CHRM2):c.1031T>G (p.Val344Gly)	LOC349160, CHRM2 (V344G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2290703	NM_001006630.2(CHRM2):c.1087C>A (p.Arg363Ser)	CHRM2, LOC349160 (R363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493648	NM_001006630.2(CHRM2):c.1240G>C (p.Ala414Pro)	CHRM2, LOC349160 (A414P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance