ClinVar for MedGen (Select 324806) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18096841.	NM_000258.3(MYL3):c.*13G>A GRCh37: Chr3:46899721 GRCh38: Chr3:46858231	MYL3		Hypertrophic cardiomyopathy 8	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 15176302.	NM_000258.3(MYL3):c.157+1G>A GRCh37: Chr3:46902449 GRCh38: Chr3:46860959	MYL3		Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 14023803.	NM_000258.3(MYL3):c.158-2A>G GRCh37: Chr3:46902317 GRCh38: Chr3:46860827	MYL3		Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Uncertain significance (Oct 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12840214.	NM_000258.3(MYL3):c.307+16G>A GRCh37: Chr3:46902150 GRCh38: Chr3:46860660	MYL3		Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8, not provided	Benign/Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11721315.	NM_000258.3(MYL3):c.557A>C (p.Glu186Ala) GRCh37: Chr3:46899876 GRCh38: Chr3:46858386	MYL3	E186A	Hypertrophic cardiomyopathy 8, not provided, Cardiomyopathy	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 11446836.	NM_000258.3(MYL3):c.507G>A (p.Val169=) GRCh37: Chr3:46899926 GRCh38: Chr3:46858436	MYL3		Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Likely benign (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10119687.	NM_000258.3(MYL3):c.308-3C>T GRCh37: Chr3:46901141 GRCh38: Chr3:46859651	MYL3		Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, Cardiovascular phenotype	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9704318.	NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs) GRCh37: Chr3:46904879-46904880 GRCh38: Chr3:46863389-46863390	MYL3	M1fs	Hypertrophic cardiomyopathy 8, not provided	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9527959.	NM_000258.3(MYL3):c.241C>T (p.Arg81Trp) GRCh37: Chr3:46902232 GRCh38: Chr3:46860742	MYL3	R81W	Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95112510.	NM_000258.3(MYL3):c.71C>T (p.Ala24Val) GRCh37: Chr3:46904810 GRCh38: Chr3:46863320	MYL3	A24V	Hypertrophic cardiomyopathy 8, Cardiovascular phenotype, Hypertrophic cardiomyopathy	Uncertain significance (Mar 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 92623311.	NM_000258.3(MYL3):c.158-3C>G GRCh37: Chr3:46902318 GRCh38: Chr3:46860828	MYL3		Hypertrophic cardiomyopathy 8, Cardiomyopathy	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92276012.	NM_000258.3(MYL3):c.61C>T (p.Pro21Ser) GRCh37: Chr3:46904820 GRCh38: Chr3:46863330	MYL3	P21S	Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, Cardiomyopathy	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91939313.	NM_000258.3(MYL3):c.79C>G (p.Pro27Ala) GRCh37: Chr3:46904802 GRCh38: Chr3:46863312	MYL3	P27A	Hypertrophic cardiomyopathy 8, Cardiomyopathy	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90301814.	NM_000258.3(MYL3):c.-33T>C GRCh37: Chr3:46904913 GRCh38: Chr3:46863423	MYL3		Hypertrophic cardiomyopathy 8	Uncertain significance (Nov 16, 2017)	criteria provided, single submitter
Select item 90301715.	NM_000258.3(MYL3):c.70G>A (p.Ala24Thr) GRCh37: Chr3:46904811 GRCh38: Chr3:46863321	MYL3	A24T	Hypertrophic cardiomyopathy 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90047316.	NM_000258.3(MYL3):c.*112C>A GRCh37: Chr3:46899493 GRCh38: Chr3:46858003	MYL3		Hypertrophic cardiomyopathy 8	Uncertain significance (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90047217.	NM_000258.3(MYL3):c.*140C>T GRCh37: Chr3:46899465 GRCh38: Chr3:46857975	MYL3		Hypertrophic cardiomyopathy 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 63993518.	NM_000258.3(MYL3):c.170C>T (p.Ala57Val) GRCh37: Chr3:46902303 GRCh38: Chr3:46860813	MYL3	A57V	Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58528719.	NM_000258.3(MYL3):c.481G>T (p.Gly161Cys) GRCh37: Chr3:46900965 GRCh38: Chr3:46859475	MYL3	G161C	Hypertrophic cardiomyopathy 8	Uncertain significance (Mar 29, 2018)	criteria provided, single submitter
Select item 42625220.	NM_000258.3(MYL3):c.449G>A (p.Gly150Asp) GRCh37: Chr3:46900997 GRCh38: Chr3:46859507	MYL3	G150D	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 8	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34557221.	NM_000258.2(MYL3):c.-90C>T GRCh37: Chr3:46904970 GRCh38: Chr3:46863480	MYL3		not provided, Hypertrophic cardiomyopathy 8	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34557122.	NM_000258.3(MYL3):c.96T>A (p.Pro32=) GRCh37: Chr3:46904785 GRCh38: Chr3:46863295	MYL3		Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, Cardiomyopathy	Conflicting interpretations of pathogenicity (Nov 21, 2021)	criteria provided, conflicting interpretations
Select item 34557023.	NM_000258.3(MYL3):c.219C>T (p.Tyr73=) GRCh37: Chr3:46902254 GRCh38: Chr3:46860764	MYL3		Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, not provided, Cardiomyopathy, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jan 7, 2022)	criteria provided, conflicting interpretations
Select item 34556924.	NM_000258.3(MYL3):c.*13+5G>C GRCh37: Chr3:46899716 GRCh38: Chr3:46858226	MYL3		not specified, Hypertrophic cardiomyopathy 8, Cardiomyopathy	Likely benign (Aug 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34556825.	NM_000258.3(MYL3):c.*89G>A GRCh37: Chr3:46899516 GRCh38: Chr3:46858026	MYL3		Hypertrophic cardiomyopathy 8, not provided	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 25563826.	NM_000258.3(MYL3):c.307+37A>C GRCh37: Chr3:46902129 GRCh38: Chr3:46860639	MYL3		not specified, not provided, Hypertrophic cardiomyopathy 8	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25563727.	NM_000258.3(MYL3):c.129+44G>T GRCh37: Chr3:46904708 GRCh38: Chr3:46863218	MYL3		not specified, Hypertrophic cardiomyopathy 8, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22762128.	NM_000258.3(MYL3):c.307+15C>T GRCh37: Chr3:46902151 GRCh38: Chr3:46860661	MYL3		not specified, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 18144129.	NM_000258.3(MYL3):c.220G>A (p.Gly74Arg) GRCh37: Chr3:46902253 GRCh38: Chr3:46860763	MYL3	G74R	Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8, not provided	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 17988830.	NM_000258.3(MYL3):c.*5C>T GRCh37: Chr3:46899729 GRCh38: Chr3:46858239	MYL3		not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 8	Conflicting interpretations of pathogenicity (Nov 20, 2019)	criteria provided, conflicting interpretations
Select item 17784131.	NM_000258.3(MYL3):c.466G>T (p.Val156Leu) GRCh37: Chr3:46900980 GRCh38: Chr3:46859490	MYL3	V156L	not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 16449132.	NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) GRCh37: Chr3:46904877 GRCh38: Chr3:46863387	MYL3	A2P	Cardiovascular phenotype, not specified, not provided, Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 8	Conflicting interpretations of pathogenicity (Aug 12, 2022)	criteria provided, conflicting interpretations
Select item 16132933.	NM_000258.3(MYL3):c.235G>A (p.Val79Ile) GRCh37: Chr3:46902238 GRCh38: Chr3:46860748	MYL3	V79I	Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 8, not specified, Hypertrophic cardiomyopathy	Uncertain significance (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4313034.	NM_000258.3(MYL3):c.81T>C (p.Pro27=) GRCh37: Chr3:46904800 GRCh38: Chr3:46863310	MYL3		Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4312935.	NM_000258.3(MYL3):c.69C>T (p.Pro23=) GRCh37: Chr3:46904812 GRCh38: Chr3:46863322	MYL3		Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4312336.	NM_000258.3(MYL3):c.446T>C (p.Met149Thr) GRCh37: Chr3:46901000 GRCh38: Chr3:46859510	MYL3	M149T	Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 4312137.	NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) GRCh37: Chr3:46902303 GRCh38: Chr3:46860813	MYL3	A57D	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 4311938.	NM_000258.3(MYL3):c.130-14G>T GRCh37: Chr3:46902491 GRCh38: Chr3:46861001	MYL3		not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3664839.	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) GRCh37: Chr3:46899903 GRCh38: Chr3:46858413	MYL3	E177G	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3178040.	NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) GRCh37: Chr3:46902303 GRCh38: Chr3:46860813	MYL3	A57G	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Sep 17, 2022)	criteria provided, conflicting interpretations
Select item 3177941.	NM_000258.3(MYL3):c.517A>G (p.Met173Val) GRCh37: Chr3:46899916 GRCh38: Chr3:46858426	MYL3	M173V	Cardiomyopathy, not specified, not provided, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3177842.	NM_000258.3(MYL3):c.466G>A (p.Val156Met) GRCh37: Chr3:46900980 GRCh38: Chr3:46859490	MYL3	V156M	not specified, Cardiovascular phenotype, not provided, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Mar 11, 2023)	criteria provided, conflicting interpretations
Select item 3177743.	NM_000258.3(MYL3):c.281G>A (p.Arg94His) GRCh37: Chr3:46902192 GRCh38: Chr3:46860702	MYL3	R94H	Cardiovascular phenotype, not provided, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jan 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1406344.	NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) GRCh37: Chr3:46901019 GRCh38: Chr3:46859529	MYL3	E143K	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Mar 6, 2023)	criteria provided, conflicting interpretations
Select item 1406245.	NM_000258.3(MYL3):c.461G>A (p.Arg154His) GRCh37: Chr3:46900985 GRCh38: Chr3:46859495	MYL3	R154H	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1406146.	NM_000258.3(MYL3):c.445A>G (p.Met149Val) GRCh37: Chr3:46901001 GRCh38: Chr3:46859511	MYL3	M149V	not provided, Hypertrophic cardiomyopathy	Pathogenic (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts

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Items: 46