ClinVar for MedGen (Select 324806) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1517630	NM_000258.3(MYL3):c.157+1G>A	MYL3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1402380	NM_000258.3(MYL3):c.158-2A>G	MYL3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1284021	NM_000258.3(MYL3):c.307+16G>A	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 8 +2 more	GBenign/Likely benign
Select item 1172131	NM_000258.3(MYL3):c.557A>C (p.Glu186Ala)	MYL3 (E186A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1144683	NM_000258.3(MYL3):c.507G>A (p.Val169=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 1011968	NM_000258.3(MYL3):c.308-3C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 8 +2 more	GUncertain significance
Select item 970431	NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs)	MYL3 (M1fs)	Indel (frameshift variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 952795	NM_000258.3(MYL3):c.241C>T (p.Arg81Trp)	MYL3 (R81W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 951125	NM_000258.3(MYL3):c.71C>T (p.Ala24Val)	MYL3 (A24V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 926233	NM_000258.3(MYL3):c.158-3C>G	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 8 +1 more	GUncertain significance
Select item 922760	NM_000258.3(MYL3):c.61C>T (p.Pro21Ser)	MYL3 (P21S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 8 +3 more	GUncertain significance
Select item 919393	NM_000258.3(MYL3):c.79C>G (p.Pro27Ala)	MYL3 (P27A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 8 +1 more	GUncertain significance
Select item 903018	NM_000258.3(MYL3):c.-33T>C	MYL3	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy 8	GUncertain significance
Select item 903017	NM_000258.3(MYL3):c.70G>A (p.Ala24Thr)	MYL3 (A24T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 8 +2 more	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 900472	NM_000258.3(MYL3):c.*140C>T	MYL3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 8	GUncertain significance
Select item 639935	NM_000258.3(MYL3):c.170C>T (p.Ala57Val)	MYL3 (A57V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 585287	NM_000258.3(MYL3):c.481G>T (p.Gly161Cys)	MYL3 (G161C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 8	GUncertain significance
Select item 426252	NM_000258.3(MYL3):c.449G>A (p.Gly150Asp)	MYL3 (G150D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 345572	NM_000258.2(MYL3):c.-90C>T	MYL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 345571	NM_000258.3(MYL3):c.96T>A (p.Pro32=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 345570	NM_000258.3(MYL3):c.219C>T (p.Tyr73=)	MYL3	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 345569	NM_000258.3(MYL3):c.*13+5G>C	MYL3	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GLikely benign
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 255638	NM_000258.3(MYL3):c.307+37A>C	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 8 +2 more	GBenign
Select item 255637	NM_000258.3(MYL3):c.129+44G>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 8 +2 more	GBenign
Select item 227621	NM_000258.3(MYL3):c.307+15C>T	MYL3	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 181441	NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)	MYL3 (G74R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
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 178087	NM_000258.3(MYL3):c.246G>A (p.Ala82=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 8 +4 more	GBenign/Likely benign
Select item 177841	NM_000258.3(MYL3):c.466G>T (p.Val156Leu)	MYL3 (V156L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 8 +5 more	GConflicting classifications of pathogenicity
Select item 164491	NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)	MYL3 (A2P)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 161329	NM_000258.3(MYL3):c.235G>A (p.Val79Ile)	MYL3 (V79I)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 43130	NM_000258.3(MYL3):c.81T>C (p.Pro27=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43129	NM_000258.3(MYL3):c.69C>T (p.Pro23=)	MYL3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 43124	NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)	MYL3 (R154C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 43123	NM_000258.3(MYL3):c.446T>C (p.Met149Thr)	MYL3 (M149T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 43121	NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	MYL3 (A57D)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 43119	NM_000258.3(MYL3):c.130-14G>T	MYL3	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 36648	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)	MYL3 (E177G)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 31780	NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	MYL3 (A57G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 31779	NM_000258.3(MYL3):c.517A>G (p.Met173Val)	MYL3 (M173V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 31778	NM_000258.3(MYL3):c.466G>A (p.Val156Met)	MYL3 (V156M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 31777	NM_000258.3(MYL3):c.281G>A (p.Arg94His)	MYL3 (R94H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 14063	NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	MYL3 (E143K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 14062	NM_000258.3(MYL3):c.461G>A (p.Arg154His)	MYL3 (R154H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 14061	NM_000258.3(MYL3):c.445A>G (p.Met149Val)	MYL3 (M149V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 48