"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177853	NM_000256.3(MYBPC3):c.6_16del	MYBPC3	Deletion	not specified	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 42746	NM_000256.3(MYBPC3):c.3815-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +4 more	GLikely pathogenic
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 179135	NM_000256.3(MYBPC3):c.3814+14G>A	MYBPC3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 179534	NM_000256.3(MYBPC3):c.3797GCC[1] (p.Arg1267del)	MYBPC3 (R1267del)	Microsatellite (inframe_deletion)	not specified	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 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 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 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 179227	NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp)	MYBPC3 (A1255D)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 164023	NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)	MYBPC3 (A1255T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 8603	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Duplication (inframe_insertion)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic
Select item 177818	NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter)	MYBPC3 (Y1251*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GPathogenic
Select item 42740	NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=)	MYBPC3	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 10 +5 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 +3 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 42737	NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)	MYBPC3 (F1246fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic/Likely pathogenic
Select item 164026	NM_000256.3(MYBPC3):c.3709A>C (p.Thr1237Pro)	MYBPC3 (T1237P)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 42734	NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 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 42733	NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter)	MYBPC3 (K1232*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 177899	NM_000256.3(MYBPC3):c.3690_3691del (p.Phe1230fs)	MYBPC3 (F1230fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 164028	NM_000256.3(MYBPC3):c.3685A>G (p.Met1229Val)	MYBPC3 (M1229V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 42732	NM_000256.3(MYBPC3):c.3677G>T (p.Arg1226Leu)	MYBPC3 (R1226L)	Single nucleotide variant (missense variant)	not specified	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)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 227569	NM_000256.3(MYBPC3):c.3651T>C (p.Asn1217=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 179527	NM_000256.3(MYBPC3):c.3644dup (p.Lys1216fs)	MYBPC3 (K1216fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
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 177677	NM_000256.3(MYBPC3):c.3628-41_3628-17del	MYBPC3	Deletion	not specified +5 more	GConflicting classifications of pathogenicity
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 228366	NM_000256.3(MYBPC3):c.(?_2906)_(3627_?)del	MYBPC3	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 42726	NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)	MYBPC3 (K1209fs)	Duplication	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic/Likely pathogenic
Select item 42727	NM_000256.3(MYBPC3):c.3624delC	MYBPC3	Deletion	Cardiomyopathy +3 more	GPathogenic
Select item 164032	NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)	MYBPC3 (R1205W)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 177670	NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs)	MYBPC3 (C1201fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 164029	NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr)	MYBPC3 (C1202Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 42725	NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)	MYBPC3 (L1200P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GConflicting classifications of pathogenicity
Select item 42724	NM_000256.3(MYBPC3):c.3585C>A (p.Gly1195=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 42723	NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)	MYBPC3 (A1194T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +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 619259	NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs)	MYBPC3 (T1184fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic/Likely pathogenic
Select item 42720	NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys)	MYBPC3 (F1183C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	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
Select item 228371	NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs)	MYBPC3 (N1171fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 42717	NM_000256.3(MYBPC3):c.3491-2A>T	MYBPC3	Single nucleotide variant (splice acceptor variant)	Left ventricular noncompaction 10 +3 more	GPathogenic/Likely pathogenic
Select item 42716	NM_000256.3(MYBPC3):c.3490+6G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 42715	NM_000256.3(MYBPC3):c.3490+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 42714	NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs)	MYBPC3 (P1161fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 227568	NM_000256.3(MYBPC3):c.3477T>C (p.Phe1159=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 177784	NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs)	MYBPC3 (F1159fs)	Deletion (frameshift variant)	Cardiomyopathy +1 more	GLikely pathogenic
Select item 177812	NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)	MYBPC3 (V1158I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 180012	NM_000256.3(MYBPC3):c.3469C>G (p.Pro1157Ala)	MYBPC3 (P1157A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 42713	NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)	MYBPC3 (V1139I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +8 more	GUncertain significance
Select item 177689	NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)	MYBPC3 (R1138H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GBenign/Likely benign
Select item 42712	NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)	MYBPC3 (R1138P)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 36611	NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)	MYBPC3 (Y1136*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 42711	NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)	MYBPC3 (I1131T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42710	NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp)	MYBPC3 (E1128D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 8604	NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)	MYBPC3 (V1125M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GConflicting classifications of pathogenicity
Select item 177701	NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)	MYBPC3 (C1124*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 42709	NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)	MYBPC3 (R1121H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 177718	NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter)	MYBPC3 (W1112*)	Duplication (nonsense)	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 177680	NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter)	MYBPC3 (W1112*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 177742	NM_000256.3(MYBPC3):c.3331-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 42707	NM_000256.3(MYBPC3):c.3330+5G>T	MYBPC3	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 42706	NM_000256.3(MYBPC3):c.3330+5G>C	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic/Likely pathogenic
Select item 8621	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 42705	NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)	MYBPC3 (T1109I)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
Select item 42704	NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr)	MYBPC3 (K1108T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 178872	NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 42703	NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=)	MYBPC3	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
Select item 42702	NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs)	MYBPC3 (Y1100fs)	Duplication	Hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 42701	NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter)	MYBPC3 (W1098*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 10 +3 more	GPathogenic
Select item 164042	NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)	MYBPC3	Deletion	Cardiovascular phenotype +5 more	GPathogenic
Select item 42700	NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 8616	NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	MYBPC3 (E1096*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 10 +5 more	GPathogenic/Likely pathogenic
Select item 138319	NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GBenign/Likely benign
Select item 42699	NM_000256.3(MYBPC3):c.3285G>C (p.Thr1095=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 42698	NM_000256.3(MYBPC3):c.3281A>T (p.Asn1094Ile)	MYBPC3 (N1094I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 164043	NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)	MYBPC3 (G1093C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 178063	NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 42696	NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter)	MYBPC3 (E1085*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 42692	NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)	MYBPC3 (W1078*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 42695	NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)	MYBPC3 (A1077T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 42694	NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)	MYBPC3 (D1076fs)	Insertion (frameshift variant)	not provided +4 more	GPathogenic
Select item 181096	NM_000256.3(MYBPC3):c.3217dupC	MYBPC3	Duplication	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 42693	NC_000011.10:g.47333332dup	MYBPC3 (K1065fs)	Duplication	Hypertrophic cardiomyopathy +2 more	GPathogenic
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +12 more	GPathogenic/Likely pathogenic
Select item 181003	NM_000256.3(MYBPC3):c.3190+4C>T	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 42691	NM_000256.3(MYBPC3):c.3190+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic

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