"GeneDx"[submitter] AND "CHRM2"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 1316263	NM_001006630.2(CHRM2):c.-528CA[12]	CHRM2	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1290257	NM_001006630.2(CHRM2):c.-528CA[13]	CHRM2	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1271139	NM_001006630.2(CHRM2):c.-528CA[6]	CHRM2	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1270234	NM_001006630.2(CHRM2):c.-528CA[11]	CHRM2	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 511334	NM_001006630.2(CHRM2):c.-282-84G>C	CHRM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 391455	NM_001006630.2(CHRM2):c.-282-74C>G	CHRM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508648	NM_001006630.2(CHRM2):c.-282-69C>T	CHRM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 384721	NM_001006630.2(CHRM2):c.-267G>A	CHRM2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 384814	NM_001006630.2(CHRM2):c.-130C>T	CHRM2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1240542	NM_001006630.2(CHRM2):c.-124-41403TGT[17]	CHRM2, LOC349160	Microsatellite (intron variant)	not provided	GBenign
Select item 1178961	NM_001006630.2(CHRM2):c.-124-41403TGT[16]	CHRM2, LOC349160	Microsatellite (intron variant)	not provided	GBenign
Select item 1222026	NM_001006630.2(CHRM2):c.-124-41403TGT[14]	CHRM2, LOC349160	Microsatellite (intron variant)	not provided	GBenign
Select item 1224957	NM_001006630.2(CHRM2):c.-124-41383T>A	CHRM2, LOC349160	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226056	NM_001006630.2(CHRM2):c.-124-41317C>T	CHRM2, LOC349160	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302778	NM_001006630.2(CHRM2):c.-124-41185G>A	CHRM2, LOC349160	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1302779	NM_001006630.2(CHRM2):c.-124-41158G>T	CHRM2, LOC349160	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 508650	NM_001006630.2(CHRM2):c.-116C>T	CHRM2, LOC349160	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1316301	NM_001006630.2(CHRM2):c.-92T>C	CHRM2, LOC349160	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1288157	NM_001006630.2(CHRM2):c.-70T>C	CHRM2, LOC349160	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 389969	NM_001006630.2(CHRM2):c.-64C>G	CHRM2, LOC349160	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 392698	NM_001006630.2(CHRM2):c.-49A>T	CHRM2, LOC349160	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 509223	NM_001006630.2(CHRM2):c.-48T>G	CHRM2, LOC349160	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 671346	NM_001006630.2(CHRM2):c.-46-328T>C	CHRM2, LOC349160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668978	NM_001006630.2(CHRM2):c.-46-306G>T	CHRM2, LOC349160	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679466	NM_001006630.2(CHRM2):c.-46-202T>C	CHRM2, LOC349160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679087	NM_001006630.2(CHRM2):c.-46-187G>T	CHRM2, LOC349160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678681	NM_001006630.2(CHRM2):c.-46-187G>C	CHRM2, LOC349160	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452042	NM_001006630.2(CHRM2):c.47G>A (p.Ser16Asn)	CHRM2, LOC349160 (S16N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514639	NM_001006630.2(CHRM2):c.54T>C (p.Tyr18=)	LOC349160, CHRM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 373620	NM_001006630.2(CHRM2):c.67G>A (p.Val23Met)	CHRM2, LOC349160 (V23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 478114	NM_001006630.2(CHRM2):c.150C>T (p.Val50=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 478115	NM_001006630.2(CHRM2):c.456C>T (p.Phe152=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +1 more	GBenign
Select item 506633	NM_001006630.2(CHRM2):c.549T>C (p.Asn183=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 424081	NM_001006630.2(CHRM2):c.674T>A (p.Val225Asp)	CHRM2, LOC349160 (V225D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 706948	NM_001006630.2(CHRM2):c.757G>A (p.Asp253Asn)	CHRM2, LOC349160 (D253N)	Single nucleotide variant (missense variant)	not provided +1 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 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 453181	NM_001006630.2(CHRM2):c.874_882del (p.Val292_Ser294del)	CHRM2, LOC349160	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
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 390655	NM_001006630.2(CHRM2):c.1044G>A (p.Gly348=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 478113	NM_001006630.2(CHRM2):c.1059T>C (p.Asn353=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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
Select item 517712	NM_001006630.2(CHRM2):c.1251C>A (p.Ile417=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +1 more	GLikely benign
Select item 1287085	NM_001006630.2(CHRM2):c.*238C>G	CHRM2, LOC349160	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 703788	NM_001006630.2(CHRM2):c.*295T>A	CHRM2, LOC349160	Single nucleotide variant (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant +1 more	GBenign

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Items: 52