CHRM2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	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 2017794	NM_001006630.2(CHRM2):c.2T>A (p.Met1Lys)	CHRM2, LOC349160 (M1K)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2894574	NM_001006630.2(CHRM2):c.8A>G (p.Asn3Ser)	CHRM2, LOC349160 (N3S)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2767906	NM_001006630.2(CHRM2):c.17del (p.Asn6fs)	CHRM2, LOC349160 (N6fs)	Deletion (frameshift variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2845482	NM_001006630.2(CHRM2):c.34C>T (p.Leu12=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 941681	NM_001006630.2(CHRM2):c.44C>A (p.Thr15Lys)	CHRM2, LOC349160 (T15K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 228516	NM_001006630.2(CHRM2):c.52_54del (p.Tyr18del)	CHRM2, LOC349160 (Y18del)	Deletion (inframe_deletion)	not specified	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 949313	NM_001006630.2(CHRM2):c.101G>T (p.Ser34Ile)	LOC349160, CHRM2 (S34I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2849000	NM_001006630.2(CHRM2):c.106G>T (p.Val36Leu)	CHRM2, LOC349160 (V36L)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 1988032	NM_001006630.2(CHRM2):c.116T>A (p.Ile39Asn)	CHRM2, LOC349160 (I39N)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2011799	NM_001006630.2(CHRM2):c.120G>C (p.Gly40=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 1381114	NM_001006630.2(CHRM2):c.154C>T (p.Arg52Cys)	CHRM2, LOC349160 (R52C)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 835459	NM_001006630.2(CHRM2):c.169G>A (p.Val57Ile)	CHRM2, LOC349160 (V57I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2083528	NM_001006630.2(CHRM2):c.171C>T (p.Val57=)	LOC349160, CHRM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1650994	NM_001006630.2(CHRM2):c.180C>T (p.Tyr60=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1170777	NM_001006630.2(CHRM2):c.186A>G (p.Leu62=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GBenign
Select item 1646341	NM_001006630.2(CHRM2):c.213C>T (p.Ile71=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2853113	NM_001006630.2(CHRM2):c.217G>A (p.Gly73Ser)	CHRM2, LOC349160 (G73S)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1902036	NM_001006630.2(CHRM2):c.219T>C (p.Gly73=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1016089	NM_001006630.2(CHRM2):c.227C>G (p.Ser76Cys)	CHRM2, LOC349160 (S76C)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1640658	NM_001006630.2(CHRM2):c.234C>T (p.Asn78=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1436115	NM_001006630.2(CHRM2):c.247T>G (p.Tyr83Asp)	CHRM2, LOC349160 (Y83D)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2056917	NM_001006630.2(CHRM2):c.256A>G (p.Ile86Val)	CHRM2, LOC349160 (I86V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2415282	NM_001006630.2(CHRM2):c.257T>C (p.Ile86Thr)	CHRM2, LOC349160 (I86T)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3492497	NM_001006630.2(CHRM2):c.289G>C (p.Asp97His)	CHRM2, LOC349160 (D97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2039736	NM_001006630.2(CHRM2):c.348C>T (p.Ile116=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2818684	NM_001006630.2(CHRM2):c.351C>T (p.Ile117=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2913801	NM_001006630.2(CHRM2):c.357T>C (p.Phe119=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1085126	NM_001006630.2(CHRM2):c.384T>C (p.Pro128=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2202627	NM_001006630.2(CHRM2):c.385C>G (p.Leu129Val)	CHRM2, LOC349160 (L129V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1921413	NM_001006630.2(CHRM2):c.403C>T (p.Arg135Trp)	CHRM2, LOC349160 (R135W)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2709418	NM_001006630.2(CHRM2):c.404G>A (p.Arg135Gln)	CHRM2, LOC349160 (R135Q)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2111184	NM_001006630.2(CHRM2):c.415A>G (p.Met139Val)	CHRM2, LOC349160 (M139V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1415294	NM_001006630.2(CHRM2):c.416T>A (p.Met139Lys)	CHRM2, LOC349160 (M139K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1419599	NM_001006630.2(CHRM2):c.426G>A (p.Met142Ile)	CHRM2, LOC349160 (M142I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1393722	NM_001006630.2(CHRM2):c.454T>G (p.Phe152Val)	CHRM2, LOC349160 (F152V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 2756088	NM_001006630.2(CHRM2):c.457A>G (p.Ile153Val)	CHRM2, LOC349160 (I153V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1638218	NM_001006630.2(CHRM2):c.480C>T (p.Leu160=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1461868	NM_001006630.2(CHRM2):c.486G>T (p.Trp162Cys)	CHRM2, LOC349160 (W162C)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1984518	NM_001006630.2(CHRM2):c.501G>C (p.Gly167=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2165608	NM_001006630.2(CHRM2):c.502G>A (p.Val168Met)	CHRM2, LOC349160 (V168M)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3492495	NM_001006630.2(CHRM2):c.512T>G (p.Val171Gly)	CHRM2, LOC349160 (V171G)	Single nucleotide variant (missense variant)	not specified	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 1120998	NM_001006630.2(CHRM2):c.525G>A (p.Glu175=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2418055	NM_001006630.2(CHRM2):c.532A>C (p.Ile178Leu)	CHRM2, LOC349160 (I178L)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1637427	NM_001006630.2(CHRM2):c.537G>A (p.Gln179=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 850977	NM_001006630.2(CHRM2):c.569C>T (p.Thr190Met)	CHRM2, LOC349160 (T190M)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 650121	NM_001006630.2(CHRM2):c.570G>A (p.Thr190=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1633650	NM_001006630.2(CHRM2):c.576T>C (p.Ile192=)	LOC349160, CHRM2	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 847609	NM_001006630.2(CHRM2):c.577G>A (p.Ala193Thr)	CHRM2, LOC349160 (A193T)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1968651	NM_001006630.2(CHRM2):c.579A>C (p.Ala193=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 757228	NM_001006630.2(CHRM2):c.594A>G (p.Pro198=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GBenign
Select item 734698	NM_001006630.2(CHRM2):c.597G>A (p.Val199=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign

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