MYBPC3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 3990

<< First< Prev

Page of 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 2665104	NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del	MADD, MYBPC3	Deletion	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 1233585	NC_000011.10:g.47331206C>T	MYBPC3	Single nucleotide variant	not provided	GBenign
Select item 1253549	NC_000011.10:g.47331311G>A	MYBPC3	Single nucleotide variant	not provided	GBenign
Select item 1271781	NC_000011.10:g.47331331A>T	MYBPC3	Single nucleotide variant	not provided	GBenign
Select item 304934	NM_000256.3(MYBPC3):c.*327C>A	MYBPC3	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +2 more	GUncertain significance
Select item 1258006	NM_000256.3(MYBPC3):c.*314A>G	MYBPC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1262135	NM_000256.3(MYBPC3):c.*294T>A	MYBPC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 304935	NM_000256.3(MYBPC3):c.*293A>G	MYBPC3	Single nucleotide variant	Hypertrophic cardiomyopathy 4 +1 more	GUncertain significance
Select item 878299	NM_000256.3(MYBPC3):c.*275G>A	MYBPC3	Single nucleotide variant (3 prime UTR variant)	Left ventricular noncompaction 10 +1 more	GUncertain significance
Select item 304936	NM_000256.3(MYBPC3):c.*236G>A	MYBPC3	Single nucleotide variant	Left ventricular noncompaction 10 +2 more	GBenign/Likely benign
Select item 304937	NM_000256.3(MYBPC3):c.*230del	MYBPC3	Deletion (3 prime UTR variant)	Left ventricular noncompaction cardiomyopathy +3 more	GBenign/Likely benign
Select item 878300	NM_000256.3(MYBPC3):c.*212C>G	MYBPC3	Single nucleotide variant (3 prime UTR variant)	Left ventricular noncompaction 10 +1 more	GUncertain significance
Select item 304938	NM_000256.3(MYBPC3):c.*163C>A	MYBPC3	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +2 more	GUncertain significance
Select item 304939	NM_000256.3(MYBPC3):c.*131T>C	MYBPC3	Single nucleotide variant	Hypertrophic cardiomyopathy 4 +1 more	GConflicting classifications of pathogenicity
Select item 304940	NM_000256.3(MYBPC3):c.*127G>A	MYBPC3	Single nucleotide variant	Hypertrophic cardiomyopathy 4 +1 more	GUncertain significance
Select item 304941	NM_000256.3(MYBPC3):c.*119C>A	MYBPC3	Single nucleotide variant	Hypertrophic cardiomyopathy 4 +1 more	GUncertain significance
Select item 304942	NM_000256.3(MYBPC3):c.*116T>C	MYBPC3	Single nucleotide variant	Hypertrophic cardiomyopathy 4 +1 more	GUncertain significance
Select item 304943	NM_000256.3(MYBPC3):c.*113G>T	MYBPC3	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 304944	NM_000256.3(MYBPC3):c.*95G>T	MYBPC3	Single nucleotide variant	Left ventricular noncompaction cardiomyopathy +2 more	GUncertain significance
Select item 1291384	NM_000256.3(MYBPC3):c.*47C>T	MYBPC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1231226	NM_000256.3(MYBPC3):c.*27-44C>A	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247492	NM_000256.3(MYBPC3):c.*26+16C>G	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138320	NM_000256.3(MYBPC3):c.*26+14G>A	MYBPC3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 380679	NM_000256.3(MYBPC3):c.*26+13C>T	MYBPC3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 304945	NM_000256.3(MYBPC3):c.*26+3A>G	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction cardiomyopathy +2 more	GUncertain significance
Select item 1303515	NM_000256.3(MYBPC3):c.*26+2T>C	MYBPC3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3368829	NM_000256.3(MYBPC3):c.*26+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 417401	NC_000011.10:g.(?_47331845)_(47336011_?)del	MYBPC3	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 1735286	NM_000256.3(MYBPC3):c.3824_*22del (p.Ter1275Xaa)	MYBPC3	Deletion (stop lost)	Cardiovascular phenotype	GUncertain significance
Select item 525136	NC_000011.10:g.(?_47331851)_(47348561_?)del	MYBPC3	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 454297	NC_000011.10:g.(?_47331851)_(47352667_?)del	MYBPC3	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 177853	NM_000256.3(MYBPC3):c.6_16del	MYBPC3	Deletion	not specified	GUncertain significance
Select item 927887	NM_000256.3(MYBPC3):c.3_15del	MYBPC3	Deletion (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 2442967	NM_000256.3(MYBPC3):c.*2C>G	MYBPC3	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 177888	NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp)	MYBPC3	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 921368	NM_000256.3(MYBPC3):c.3824G>A (p.Ter1275=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 524947	NM_000256.3(MYBPC3):c.3818C>T (p.Pro1273Leu)	MYBPC3 (P1273L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 517858	NM_000256.3(MYBPC3):c.3816G>A (p.Val1272=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 42746	NM_000256.3(MYBPC3):c.3815-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Primary familial hypertrophic cardiomyopathy +4 more	GLikely pathogenic
Select item 2758819	NM_000256.3(MYBPC3):c.3815-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 1735191	NM_000256.3(MYBPC3):c.3815-4G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 578052	NM_000256.3(MYBPC3):c.3815-11_3815-9del	MYBPC3	Microsatellite (intron variant)	not provided +2 more	GUncertain significance
Select item 42745	NM_000256.3(MYBPC3):c.3815-10T>G	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1290613	NM_000256.3(MYBPC3):c.3815-12C>G	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 880111	NM_000256.3(MYBPC3):c.3815-12C>T	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 811076	NM_000256.3(MYBPC3):c.3815-14C>T	MYBPC3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3071657	NM_000256.3(MYBPC3):c.3815-15C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 629965	NM_000256.3(MYBPC3):c.3815-16del	MYBPC3	Deletion (intron variant)	Cardiomyopathy	GLikely benign
Select item 1624774	NM_000256.3(MYBPC3):c.3815-20C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1290614	NM_000256.3(MYBPC3):c.3815-66C>T	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2901888	NM_000256.3(MYBPC3):c.3814+16_3814+17delinsAA	MYBPC3	Indel (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 179135	NM_000256.3(MYBPC3):c.3814+14G>A	MYBPC3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1665476	NM_000256.3(MYBPC3):c.3814+13C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 513377	NC_000011.10:g.47332059G>T	MYBPC3	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 2147775	NM_000256.3(MYBPC3):c.3814+8G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2876516	NM_000256.3(MYBPC3):c.3814+3G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 222711	NM_000256.3(MYBPC3):c.3814+2T>C	MYBPC3	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy	GLikely pathogenic
Select item 1365700	NM_000256.3(MYBPC3):c.3814+1G>C	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 384022	NM_000256.3(MYBPC3):c.3814+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1063945	NM_000256.3(MYBPC3):c.3814G>C (p.Val1272Leu)	MYBPC3 (V1272L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181029	NM_000256.3(MYBPC3):c.3814G>A (p.Val1272Met)	MYBPC3 (V1272M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 919413	NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)	MYBPC3 (R1271Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 636623	NM_000256.3(MYBPC3):c.3812G>C (p.Arg1271Pro)	MYBPC3 (R1271P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 42744	NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	MYBPC3 (R1271*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 10 +7 more	GPathogenic/Likely pathogenic
Select item 1735156	NM_000256.3(MYBPC3):c.3810G>T (p.Val1270=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 880112	NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2890639	NM_000256.3(MYBPC3):c.3809T>C (p.Val1270Ala)	MYBPC3 (V1270A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 418579	NM_000256.3(MYBPC3):c.3809T>G (p.Val1270Gly)	MYBPC3 (V1270G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 524991	NM_000256.3(MYBPC3):c.3808G>A (p.Val1270Met)	MYBPC3 (V1270M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 423792	NM_000256.3(MYBPC3):c.3808G>T (p.Val1270Leu)	MYBPC3 (V1270L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1705335	NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter)	MYBPC3 (E1269*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 1468259	NM_000256.3(MYBPC3):c.3803T>C (p.Leu1268Pro)	MYBPC3 (L1268P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1436891	NM_000256.3(MYBPC3):c.3802C>G (p.Leu1268Val)	MYBPC3 (L1268V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 179534	NM_000256.3(MYBPC3):c.3797GCC[1] (p.Arg1267del)	MYBPC3 (R1267del)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 512834	NM_000256.3(MYBPC3):c.3801C>T (p.Arg1267=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 180415	NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)	MYBPC3 (R1267H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2773697	NM_000256.3(MYBPC3):c.3799C>G (p.Arg1267Gly)	MYBPC3 (R1267G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 651464	NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs)	MYBPC3 (R1267fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic
Select item 407316	NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)	MYBPC3 (R1267C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 2821355	NM_000256.3(MYBPC3):c.3798C>T (p.Cys1266=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 935498	NM_000256.3(MYBPC3):c.3798C>G (p.Cys1266Trp)	MYBPC3 (C1266W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1734994	NM_000256.3(MYBPC3):c.3797G>T (p.Cys1266Phe)	MYBPC3 (C1266F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 42743	NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)	MYBPC3 (C1266Y)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 915722	NM_000256.3(MYBPC3):c.3794_3796delinsTGC (p.Glu1265_Cys1266delinsValArg)	MYBPC3	Indel (missense variant)	Cardiomyopathy	GUncertain significance
Select item 181028	NM_000256.3(MYBPC3):c.3796T>C (p.Cys1266Arg)	MYBPC3 (C1266R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3256566	NM_000256.3(MYBPC3):c.3784_3795del (p.Ala1262_Glu1265del)	MYBPC3	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 181027	NM_000256.3(MYBPC3):c.3794A>T (p.Glu1265Val)	MYBPC3 (E1265V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499656	NM_000256.3(MYBPC3):c.3793G>A (p.Glu1265Lys)	MYBPC3 (E1265K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 427010	NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs)	MYBPC3 (E1261fs)	Indel (frameshift variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 64613	NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe)	MYBPC3 (C1264F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 42742	NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr)	MYBPC3 (C1264Y)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +6 more	GUncertain significance
Select item 1332012	NM_000256.3(MYBPC3):c.3790T>C (p.Cys1264Arg)	MYBPC3 (C1264R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3071519	NM_000256.3(MYBPC3):c.3789G>A (p.Arg1263=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2146113	NM_000256.3(MYBPC3):c.3788G>A (p.Arg1263Gln)	MYBPC3 (R1263Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1399765	NM_000256.3(MYBPC3):c.3788G>T (p.Arg1263Leu)	MYBPC3 (R1263L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance

<< First< Prev

Page of 40