"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345569	NM_000258.3(MYL3):c.*13+5G>C	MYL3	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GLikely benign
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 43128	NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)	MYL3 (D178N)	Single nucleotide variant (missense variant)	not specified +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)	Hypertrophic cardiomyopathy 8 +5 more	GUncertain significance
Select item 43127	NM_000258.3(MYL3):c.520G>C (p.Ala174Pro)	MYL3 (A174P)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 177841	NM_000258.3(MYL3):c.466G>T (p.Val156Leu)	MYL3 (V156L)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 31778	NM_000258.3(MYL3):c.466G>A (p.Val156Met)	MYL3 (V156M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 14062	NM_000258.3(MYL3):c.461G>A (p.Arg154His)	MYL3 (R154H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 14063	NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	MYL3 (E143K)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 227622	NM_000258.3(MYL3):c.420C>T (p.Phe140=)	MYL3	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 626471	NM_000258.3(MYL3):c.419T>G (p.Phe140Cys)	MYL3 (F140C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 518858	NM_000258.3(MYL3):c.411G>T (p.Leu137=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 924985	NM_000258.3(MYL3):c.367A>G (p.Lys123Glu)	MYL3 (K123E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 31777	NM_000258.3(MYL3):c.281G>A (p.Arg94His)	MYL3 (R94H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 626717	NM_000258.3(MYL3):c.274G>A (p.Val92Met)	MYL3 (V92M)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 629700	NM_000258.3(MYL3):c.261C>T (p.Pro87=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GBenign/Likely benign
Select item 178087	NM_000258.3(MYL3):c.246G>A (p.Ala82=)	MYL3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 385152	NM_000258.3(MYL3):c.222G>A (p.Gly74=)	MYL3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 345570	NM_000258.3(MYL3):c.219C>T (p.Tyr73=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 2691223	NM_000258.3(MYL3):c.214A>G (p.Thr72Ala)	MYL3 (T14A +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 626718	NM_000258.3(MYL3):c.188G>A (p.Arg63His)	MYL3 (R63H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 181438	NM_000258.3(MYL3):c.184G>A (p.Asp62Asn)	MYL3 (D62N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 43121	NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	MYL3 (A57D)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 31780	NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	MYL3 (A57G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 228936	NM_000258.3(MYL3):c.92G>A (p.Arg31His)	MYL3 (R31H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43130	NM_000258.3(MYL3):c.81T>C (p.Pro27=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1087406	NM_000258.3(MYL3):c.78C>T (p.Pro26=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 378219	NM_000258.3(MYL3):c.36T>C (p.Asp12=)	MYL3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 520280	NM_000258.3(MYL3):c.8C>A (p.Pro3His)	MYL3 (P3H)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance

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Items: 30