4634[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 154800	GRCh38/hg38 3p21.31(chr3:46726614-46968315)x1	CCDC12, LOC112935943 +13 more	Copy number loss	See cases	GPathogenic
Select item 345567	NM_000258.3(MYL3):c.*205C>A	MYL3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 900472	NM_000258.3(MYL3):c.*140C>T	MYL3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 8	GUncertain significance
Select item 900473	NM_000258.3(MYL3):c.*112C>A	MYL3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 8	GUncertain significance
Select item 345568	NM_000258.3(MYL3):c.*89G>A	MYL3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 132975	NM_000258.3(MYL3):c.*27G>A	MYL3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1258793	NM_000258.3(MYL3):c.*13+40G>T	MYL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345569	NM_000258.3(MYL3):c.*13+5G>C	MYL3	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GLikely benign
Select item 1809684	NM_000258.3(MYL3):c.*13G>A	MYL3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 8	GUncertain significance
Select item 178086	NM_000258.3(MYL3):c.*9C>T	MYL3	Single nucleotide variant (3 prime UTR variant)	MYL3-related condition +1 more	GBenign/Likely benign
Select item 925813	NM_000258.3(MYL3):c.*6G>A	MYL3	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 179888	NM_000258.3(MYL3):c.*5C>T	MYL3	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 922298	NM_000258.3(MYL3):c.*3C>T	MYL3	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy +1 more	GBenign
Select item 3070361	NM_000258.3(MYL3):c.*1A>C	MYL3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 923490	NM_000258.3(MYL3):c.582C>T (p.Ser194=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1983370	NM_000258.3(MYL3):c.579del (p.Met193fs)	MYL3 (M193fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 952927	NM_000258.3(MYL3):c.579G>A (p.Met193Ile)	MYL3 (M193I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 925117	NM_000258.3(MYL3):c.577A>G (p.Met193Val)	MYL3 (M193V)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1004078	NM_000258.3(MYL3):c.575dup (p.Met193fs)	MYL3 (M193fs)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2105706	NM_000258.3(MYL3):c.575T>A (p.Ile192Asn)	MYL3 (I129N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074429	NM_000258.3(MYL3):c.572A>G (p.His191Arg)	MYL3 (H128R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3019205	NM_000258.3(MYL3):c.572A>C (p.His191Pro)	MYL3 (H191P +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 222738	NM_000258.3(MYL3):c.571C>G (p.His191Asp)	MYL3 (H191D)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1311228	NM_000258.3(MYL3):c.568A>G (p.Lys190Glu)	MYL3 (K190E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2823484	NM_000258.3(MYL3):c.563_566dup (p.Lys190fs)	MYL3 (K132fs +2 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 919390	NM_000258.3(MYL3):c.567G>A (p.Val189=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1408378	NM_000258.3(MYL3):c.560-1G>C	MYL3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 920752	NM_000258.3(MYL3):c.560-1G>A	MYL3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 454400	NM_000258.3(MYL3):c.560-2del	MYL3	Deletion (splice acceptor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 222739	NM_000258.3(MYL3):c.560-3C>T	MYL3	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1898972	NM_000258.3(MYL3):c.560-7T>C	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1131119	NM_000258.3(MYL3):c.560-10T>G	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 629640	NM_000258.3(MYL3):c.560-15_560-14del	MYL3	Microsatellite (intron variant)	Cardiomyopathy	GLikely benign
Select item 1974957	NM_000258.3(MYL3):c.560-15T>A	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 927638	NM_000258.3(MYL3):c.560-15T>G	MYL3	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2773983	NM_000258.3(MYL3):c.560-19_560-16del	MYL3	Microsatellite (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1246340	NM_000258.3(MYL3):c.560-30T>C	MYL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2414508	NM_000258.3(MYL3):c.559+16_559+31del	MYL3	Deletion (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2869484	NM_000258.3(MYL3):c.559+20G>A	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 138401	NM_000258.3(MYL3):c.559+19G>A	MYL3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 31781	NM_000258.3(MYL3):c.559+6C>T	MYL3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2017667	NM_000258.3(MYL3):c.559+2T>C	MYL3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1172131	NM_000258.3(MYL3):c.557A>C (p.Glu186Ala)	MYL3 (E186A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 3075506	NM_000258.3(MYL3):c.556G>A (p.Glu186Lys)	MYL3 (E123K +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1171946	NM_000258.3(MYL3):c.555T>C (p.Tyr185=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1359700	NM_000258.3(MYL3):c.553T>A (p.Tyr185Asn)	MYL3 (Y185N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 924406	NM_000258.3(MYL3):c.552C>T (p.Asn184=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2773984	NM_000258.3(MYL3):c.551A>G (p.Asn184Ser)	MYL3 (N126S +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 508984	NM_000258.3(MYL3):c.549C>T (p.Ile183=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 920327	NM_000258.3(MYL3):c.546C>T (p.Cys182=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3075507	NM_000258.3(MYL3):c.541G>A (p.Gly181Ser)	MYL3 (G118S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2718667	NM_000258.3(MYL3):c.540T>G (p.Asn180Lys)	MYL3 (N122K +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 650016	NM_000258.3(MYL3):c.539A>G (p.Asn180Ser)	MYL3 (N180S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1368928	NM_000258.3(MYL3):c.536C>T (p.Ser179Phe)	MYL3 (S179F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1036975	NM_000258.3(MYL3):c.536C>A (p.Ser179Tyr)	MYL3 (S179Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 43128	NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)	MYL3 (D178N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 36648	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)	MYL3 (E177G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 629442	NM_000258.3(MYL3):c.521C>T (p.Ala174Val)	MYL3 (A174V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 43127	NM_000258.3(MYL3):c.520G>C (p.Ala174Pro)	MYL3 (A174P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 580400	NM_000258.3(MYL3):c.518T>C (p.Met173Thr)	MYL3 (M173T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 181449	NM_000258.3(MYL3):c.518T>A (p.Met173Lys)	MYL3 (M173K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31779	NM_000258.3(MYL3):c.517A>G (p.Met173Val)	MYL3 (M173V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 43126	NM_000258.3(MYL3):c.516G>A (p.Leu172=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1172247	NM_000258.3(MYL3):c.514T>C (p.Leu172=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 970425	NM_000258.3(MYL3):c.508G>C (p.Glu170Gln)	MYL3 (E170Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 220466	NM_000258.3(MYL3):c.508G>A (p.Glu170Lys)	MYL3 (E170K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1144683	NM_000258.3(MYL3):c.507G>A (p.Val169=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 2110716	NM_000258.3(MYL3):c.505G>A (p.Val169Met)	MYL3 (V106M +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2087168	NM_000258.3(MYL3):c.505G>C (p.Val169Leu)	MYL3 (V111L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072685	NM_000258.3(MYL3):c.504del (p.Val169fs)	MYL3 (V106fs +2 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 754726	NM_000258.3(MYL3):c.504A>G (p.Glu168=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2107027	NM_000258.3(MYL3):c.503A>C (p.Glu168Ala)	MYL3 (E110A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072953	NM_000258.3(MYL3):c.502G>C (p.Glu168Gln)	MYL3 (E105Q +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 918792	NM_000258.3(MYL3):c.502G>A (p.Glu168Lys)	MYL3 (E168K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3072684	NM_000258.3(MYL3):c.485_501del (p.Glu162fs)	MYL3 (E104fs +1 more)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 388717	NM_000258.3(MYL3):c.501C>T (p.Asp167=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 919850	NM_000258.3(MYL3):c.499G>A (p.Asp167Asn)	MYL3 (D167N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1022551	NM_000258.3(MYL3):c.494C>G (p.Thr165Arg)	MYL3 (T165R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074283	NM_000258.3(MYL3):c.490C>T (p.Leu164=)	MYL3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 922074	NM_000258.3(MYL3):c.488G>A (p.Arg163Lys)	MYL3 (R163K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1367821	NM_000258.3(MYL3):c.487A>G (p.Arg163Gly)	MYL3 (R163G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2145539	NM_000258.3(MYL3):c.486G>C (p.Glu162Asp)	MYL3 (E104D +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 922164	NM_000258.3(MYL3):c.484G>A (p.Glu162Lys)	MYL3 (E162K)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 924592	NM_000258.3(MYL3):c.483T>G (p.Gly161=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 373241	NM_000258.3(MYL3):c.482G>A (p.Gly161Asp)	MYL3 (G161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 164486	NM_000258.3(MYL3):c.482-1G>A	MYL3	Single nucleotide variant (splice acceptor variant +1 more)	not specified	GUncertain significance
Select item 132986	NM_000258.3(MYL3):c.482-2A>G	MYL3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 180443	NM_000258.3(MYL3):c.482-6T>C	MYL3	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 629340	NM_000258.3(MYL3):c.482-9T>A	MYL3	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 191174	NM_000258.3(MYL3):c.482-10C>T	MYL3	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 43125	NM_000258.3(MYL3):c.482-14C>A	MYL3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 138400	NM_000258.3(MYL3):c.482-17C>T	MYL3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1175080	NM_000258.3(MYL3):c.482-18G>A	MYL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625211	NM_000258.3(MYL3):c.482-20C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1179934	NM_000258.3(MYL3):c.482-100C>T	MYL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2961868	NM_000258.3(MYL3):c.481+17C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1633335	NM_000258.3(MYL3):c.481+15C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 795251	NM_000258.3(MYL3):c.481+10G>C	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 571443	NM_000258.3(MYL3):c.481+5G>A	MYL3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance

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