"GeneDx"[submitter] AND "MYBPC3"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1072

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 304943	NM_000256.3(MYBPC3):c.*113G>T	MYBPC3	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
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 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 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 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 1290614	NM_000256.3(MYBPC3):c.3815-66C>T	MYBPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513377	NC_000011.10:g.47332059G>T	MYBPC3	Single nucleotide variant	not specified +1 more	GLikely benign
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 181029	NM_000256.3(MYBPC3):c.3814G>A (p.Val1272Met)	MYBPC3 (V1272M)	Single nucleotide variant (missense variant)	not provided	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 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 423792	NM_000256.3(MYBPC3):c.3808G>T (p.Val1270Leu)	MYBPC3 (V1270L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	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 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 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 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 181027	NM_000256.3(MYBPC3):c.3794A>T (p.Glu1265Val)	MYBPC3 (E1265V)	Single nucleotide variant (missense variant)	not provided	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 181026	NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)	MYBPC3 (R1263W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 427017	NM_000256.3(MYBPC3):c.3781G>T (p.Glu1261Ter)	MYBPC3 (E1261*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 181025	NM_000256.3(MYBPC3):c.3779G>A (p.Gly1260Asp)	MYBPC3 (G1260D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227570	NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 164021	NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	MYBPC3	Deletion	not provided +5 more	GPathogenic/Likely pathogenic
Select item 181024	NM_000256.3(MYBPC3):c.3775C>T (p.Gln1259Ter)	MYBPC3 (Q1259*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 181023	NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter)	MYBPC3 (L1258*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 181022	NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)	MYBPC3 (N1257K)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 42741	NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)	MYBPC3 (T1256del)	Microsatellite (inframe_deletion)	not specified +5 more	GLikely pathogenic
Select item 164023	NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)	MYBPC3 (A1255T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 8603	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Duplication (inframe_insertion)	not provided +6 more	GPathogenic
Select item 181104	NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del)	MYBPC3	Deletion (inframe_deletion)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 181021	NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys)	MYBPC3 (Y1251C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 181020	NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His)	MYBPC3 (Y1251H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 177653	NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val)	MYBPC3 (G1249V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 42739	NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)	MYBPC3 (G1248R)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 427135	NM_000256.3(MYBPC3):c.3740A>G (p.Asp1247Gly)	MYBPC3 (D1247G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 181019	NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)	MYBPC3 (C1244*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +2 more	GPathogenic/Likely pathogenic
Select item 423106	NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs)	MYBPC3 (K1242fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 393186	NM_000256.3(MYBPC3):c.3726G>T (p.Lys1242Asn)	MYBPC3 (K1242N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 427206	NM_000256.3(MYBPC3):c.3716A>G (p.Glu1239Gly)	MYBPC3 (E1239G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 181136	NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro)	MYBPC3 (L1238P)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 516335	NM_000256.3(MYBPC3):c.3708G>A (p.Leu1236=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 42736	NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 181018	NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro)	MYBPC3 (R1228P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 161306	NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)	MYBPC3 (R1228C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GConflicting classifications of pathogenicity
Select item 181017	NM_000256.3(MYBPC3):c.3679T>A (p.Phe1227Ile)	MYBPC3 (F1227I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 847209	NM_000256.3(MYBPC3):c.3677G>A (p.Arg1226His)	MYBPC3 (R1226H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 42731	NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)	MYBPC3 (R1226C)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 42730	NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 181016	NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter)	MYBPC3 (G1222*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 162506	NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	MYBPC3 (W1214*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 181015	NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter)	MYBPC3 (W1214*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1186373	NM_000256.3(MYBPC3):c.3628-3T>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 378197	NC_000011.10:g.47332264A>G	MYBPC3	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 177677	NM_000256.3(MYBPC3):c.3628-41_3628-17del	MYBPC3	Deletion	Left ventricular noncompaction 10 +5 more	GConflicting classifications of pathogenicity
Select item 1207128	NM_000256.3(MYBPC3):c.3628-90G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255625	NM_000256.3(MYBPC3):c.3627+49C>T	MYBPC3	Single nucleotide variant	not provided +1 more	GBenign
Select item 188586	NM_000256.3(MYBPC3):c.3627+30G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 378196	NC_000011.10:g.47332549C>T	MYBPC3	Single nucleotide variant	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 382033	NM_000256.3(MYBPC3):c.3627+14G>A	MYBPC3	Single nucleotide variant	not specified	GLikely benign
Select item 519195	NM_000256.3(MYBPC3):c.3627+2del	MYBPC3	Deletion (splice donor variant)	not provided +2 more	GPathogenic
Select item 42728	NM_000256.3(MYBPC3):c.3627+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 42727	NM_000256.3(MYBPC3):c.3624delC	MYBPC3	Deletion	Primary familial hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 1193309	NM_000256.3(MYBPC3):c.3617G>T (p.Gly1206Val)	MYBPC3 (G1206V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 407336	NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs)	MYBPC3 (G1206fs)	Deletion (frameshift variant)	Cardiomyopathy +2 more	GPathogenic
Select item 372421	NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp)	MYBPC3 (G1206D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1300674	NM_000256.3(MYBPC3):c.3614G>C (p.Arg1205Pro)	MYBPC3 (R1205P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 181014	NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)	MYBPC3 (R1205Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 164032	NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)	MYBPC3 (R1205W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 407314	NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)	MYBPC3 (C1202S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 42725	NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)	MYBPC3 (L1200P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 181013	NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val)	MYBPC3 (G1195V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 181012	NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val)	MYBPC3 (A1194V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 42723	NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)	MYBPC3 (A1194T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 669104	NM_000256.3(MYBPC3):c.3579C>T (p.Ile1193=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 454329	NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 524959	NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu)	MYBPC3 (S1191L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 42722	NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)	MYBPC3 (R1190H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 181133	NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter)	MYBPC3 (Q1185*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 854702	NM_000256.3(MYBPC3):c.3545G>C (p.Ser1182Thr)	MYBPC3 (S1182T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 181011	NM_000256.3(MYBPC3):c.3541C>G (p.Pro1181Ala)	MYBPC3 (P1181A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42719	NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)	MYBPC3 (E1179K)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 11