Related gene-specific medical variations for Gene (Select 349160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017624	NM_001006630.2(CHRM2):c.1245T>G (p.Pro415=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 3016663	NM_001006630.2(CHRM2):c.830G>A (p.Gly277Glu)	CHRM2, LOC349160 (G277E)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2970663	NM_001006630.2(CHRM2):c.639C>T (p.Ser213=)	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 2913175	NM_001006630.2(CHRM2):c.829G>A (p.Gly277Arg)	CHRM2, LOC349160 (G277R)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2906956	NM_001006630.2(CHRM2):c.727C>A (p.Pro243Thr)	CHRM2, LOC349160 (P243T)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2903163	NM_001006630.2(CHRM2):c.1326T>C (p.Leu442=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 2890640	NM_001006630.2(CHRM2):c.1303A>G (p.Ile435Val)	CHRM2, LOC349160 (I435V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2862993	NM_001006630.2(CHRM2):c.652AAG[1] (p.Lys219del)	CHRM2, LOC349160 (K219del)	Microsatellite (inframe_deletion)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2862580	NM_001006630.2(CHRM2):c.1323A>T (p.Ala441=)	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 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 2845482	NM_001006630.2(CHRM2):c.34C>T (p.Leu12=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2840735	NM_001006630.2(CHRM2):c.1372C>T (p.His458Tyr)	CHRM2, LOC349160 (H458Y)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 2810515	NM_001006630.2(CHRM2):c.638G>A (p.Ser213Asn)	CHRM2, LOC349160 (S213N)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2777821	NM_001006630.2(CHRM2):c.1032G>T (p.Val344=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2771173	NM_001006630.2(CHRM2):c.1142G>T (p.Arg381Leu)	CHRM2, LOC349160 (R381L)	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 2764466	NM_001006630.2(CHRM2):c.1140C>T (p.Ser380=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 2718641	NM_001006630.2(CHRM2):c.1107T>G (p.Thr369=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GBenign
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 2705821	NM_001006630.2(CHRM2):c.1020T>C (p.Thr340=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2705291	NM_001006630.2(CHRM2):c.1021A>G (p.Asn341Asp)	CHRM2, LOC349160 (N341D)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2559652	NM_001006630.2(CHRM2):c.669G>C (p.Glu223Asp)	CHRM2, LOC349160 (E223D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541831	NM_001006630.2(CHRM2):c.525G>T (p.Glu175Asp)	CHRM2, LOC349160 (E175D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493648	NM_001006630.2(CHRM2):c.1240G>C (p.Ala414Pro)	CHRM2, LOC349160 (A414P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2418038	NM_001006630.2(CHRM2):c.709C>G (p.Gln237Glu)	CHRM2, LOC349160 (Q237E)	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 2410643	NM_001006630.2(CHRM2):c.688C>A (p.Pro230Thr)	CHRM2, LOC349160 (P230T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307058	NM_001006630.2(CHRM2):c.649A>G (p.Ile217Val)	LOC349160, CHRM2 (I217V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290703	NM_001006630.2(CHRM2):c.1087C>A (p.Arg363Ser)	CHRM2, LOC349160 (R363S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286977	NM_001006630.2(CHRM2):c.115A>T (p.Ile39Phe)	LOC349160, CHRM2 (I39F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255068	NM_001006630.2(CHRM2):c.660C>G (p.Asp220Glu)	LOC349160, CHRM2 (D220E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2170697	NM_001006630.2(CHRM2):c.716G>A (p.Arg239Lys)	CHRM2, LOC349160 (R239K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 2157612	NM_001006630.2(CHRM2):c.916A>C (p.Asn306His)	CHRM2, LOC349160 (N306H)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2145323	NM_001006630.2(CHRM2):c.1087C>T (p.Arg363Cys)	CHRM2, LOC349160 (R363C)	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 2100790	NM_001006630.2(CHRM2):c.952G>A (p.Glu318Lys)	CHRM2, LOC349160 (E318K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2097507	NM_001006630.2(CHRM2):c.1141C>T (p.Arg381Trp)	CHRM2, LOC349160 (R381W)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2085109	NM_001006630.2(CHRM2):c.1148A>G (p.Lys383Arg)	CHRM2, LOC349160 (K383R)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2083528	NM_001006630.2(CHRM2):c.171C>T (p.Val57=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2076188	NM_001006630.2(CHRM2):c.673G>A (p.Val225Ile)	CHRM2, LOC349160 (V225I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2071120	NM_001006630.2(CHRM2):c.943T>C (p.Ser315Pro)	CHRM2, LOC349160 (S315P)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2065155	NM_001006630.2(CHRM2):c.1263G>A (p.Val421=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 2056012	NM_001006630.2(CHRM2):c.713G>C (p.Gly238Ala)	CHRM2, LOC349160 (G238A)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +1 more	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 2038769	NM_001006630.2(CHRM2):c.897T>C (p.Asp299=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 2011799	NM_001006630.2(CHRM2):c.120G>C (p.Gly40=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 1984518	NM_001006630.2(CHRM2):c.501G>C (p.Gly167=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 1943171	NM_001006630.2(CHRM2):c.692T>C (p.Val231Ala)	CHRM2, LOC349160 (V231A)	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 1916759	NM_001006630.2(CHRM2):c.1054C>A (p.Gln352Lys)	CHRM2, LOC349160 (Q352K)	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 1650994	NM_001006630.2(CHRM2):c.180C>T (p.Tyr60=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1650670	NM_001006630.2(CHRM2):c.1203C>T (p.Ala401=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 1640658	NM_001006630.2(CHRM2):c.234C>T (p.Asn78=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
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 1637427	NM_001006630.2(CHRM2):c.537G>A (p.Gln179=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1634629	NM_001006630.2(CHRM2):c.618T>C (p.Tyr206=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1633650	NM_001006630.2(CHRM2):c.576T>C (p.Ile192=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1567913	NM_001006630.2(CHRM2):c.1074G>A (p.Gln358=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1567379	NM_001006630.2(CHRM2):c.954G>A (p.Glu318=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1541320	NM_001006630.2(CHRM2):c.735T>C (p.Asn245=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1523773	NM_001006630.2(CHRM2):c.914A>G (p.Glu305Gly)	LOC349160, CHRM2 (E305G)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1515485	NM_001006630.2(CHRM2):c.645C>T (p.Ser215=)	CHRM2, LOC349160	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1512211	NM_001006630.2(CHRM2):c.1248C>G (p.Cys416Trp)	CHRM2, LOC349160 (C416W)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1509476	NM_001006630.2(CHRM2):c.911A>T (p.Asp304Val)	CHRM2, LOC349160 (D304V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1490789	NM_001006630.2(CHRM2):c.991A>C (p.Thr331Pro)	CHRM2, LOC349160 (T331P)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1485284	NM_001006630.2(CHRM2):c.1363C>A (p.Leu455Ile)	CHRM2, LOC349160 (L455I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 1438420	NM_001006630.2(CHRM2):c.1088G>A (p.Arg363His)	CHRM2, LOC349160 (R363H)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 1419599	NM_001006630.2(CHRM2):c.426G>A (p.Met142Ile)	CHRM2, LOC349160 (M142I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +1 more	GUncertain significance
Select item 1415423	NM_001006630.2(CHRM2):c.1135C>T (p.Pro379Ser)	CHRM2, LOC349160 (P379S)	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 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 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 1380299	NM_001006630.2(CHRM2):c.622C>T (p.His208Tyr)	CHRM2, LOC349160 (H208Y)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1380192	NM_001006630.2(CHRM2):c.1394C>T (p.Thr465Ile)	CHRM2, LOC349160 (T465I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1378834	NM_001006630.2(CHRM2):c.1368G>T (p.Met456Ile)	CHRM2, LOC349160 (M456I)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1348611	NM_001006630.2(CHRM2):c.1074G>C (p.Gln358His)	CHRM2, LOC349160 (Q358H)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 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 1302778	NM_001006630.2(CHRM2):c.-124-41185G>A	CHRM2, LOC349160	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
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 1287085	NM_001006630.2(CHRM2):c.*238C>G	CHRM2, LOC349160	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1240542	NM_001006630.2(CHRM2):c.-124-41403TGT[17]	CHRM2, LOC349160	Microsatellite (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 1224957	NM_001006630.2(CHRM2):c.-124-41383T>A	CHRM2, LOC349160	Single nucleotide variant (intron variant)	not provided	GBenign

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