C0878544[trait identifier] AND "Clinical Genetics Laboratory, Region O - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48074	NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	LMNA (R225* +2 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A +5 more	GPathogenic
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	HFE-related disorder +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 1333110	NM_001458.5(FLNC):c.539A>G (p.Asn180Ser)	FLNC (N180S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
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 181102	NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	MYBPC3 (Y1136del)	Microsatellite (inframe_deletion)	Brugada syndrome +8 more	GConflicting classifications of pathogenicity
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Heart block +12 more	GPathogenic/Likely pathogenic
Select item 42691	NM_000256.3(MYBPC3):c.3190+2T>G	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 4 +6 more	GPathogenic
Select item 42669	NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	MYBPC3 (Q969*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 42619	NC_000011.10:g.47337730dup	MYBPC3 (W792fs)	Duplication	Cardiovascular phenotype +6 more	GPathogenic
Select item 181147	NM_000256.3(MYBPC3):c.1358dup (p.Val454fs)	MYBPC3 (V454fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 4 +1 more	GPathogenic/Likely pathogenic
Select item 42787	NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser)	MYBPC3 (Y237S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 42926	NM_000257.4(MYH7):c.2711G>A (p.Arg904His)	MYH7 (R904H)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GPathogenic FDA Recognized database
Select item 181369	NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn)	LOC126861898, MYH7 (D778N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GConflicting classifications of pathogenicity
Select item 42875	NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	MYH7 (R663H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14088	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7 (R249Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GPathogenic/Likely pathogenic
Select item 164401	NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	MYH7 (R143W)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 18331	NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	ACTC1, GJD2-DT (E101K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 161396	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3 (R162W)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity