"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228516	NM_001006630.2(CHRM2):c.52_54del (p.Tyr18del)	CHRM2, LOC349160 (Y18del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 227248	NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile)	CHRM2, LOC349160 (V231I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 422877	NM_001006630.2(CHRM2):c.703C>A (p.Leu235Met)	CHRM2, LOC349160 (L235M)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 227249	NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser)	CHRM2, LOC349160 (N258S)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +2 more	GBenign/Likely benign
Select item 504934	NM_001006630.2(CHRM2):c.794C>T (p.Ala265Val)	CHRM2, LOC349160 (A265V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 228517	NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser)	CHRM2, LOC349160 (T287S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 478116	NM_001006630.2(CHRM2):c.991A>T (p.Thr331Ser)	LOC349160, CHRM2 (T331S)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +1 more	GBenign
Select item 226513	NM_001006630.2(CHRM2):c.1050A>G (p.Ser350=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 227247	NM_001006630.2(CHRM2):c.1114C>G (p.Pro372Ala)	CHRM2, LOC349160 (P372A)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 226514	NM_001006630.2(CHRM2):c.1197T>C (p.Thr399=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign