C0007194[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222849	NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)	TRIM63 (Q247*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1027652	NM_003280.3(TNNC1):c.130G>A (p.Val44Met)	TNNC1 (V44M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1338971	NM_032578.4(MYPN):c.121C>A (p.Pro41Thr)	MYPN (P41T)	Single nucleotide variant (missense variant +2 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1183967	NM_000256.3(MYBPC3):c.3622C>T (p.Pro1208Ser)	MYBPC3 (P1208S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1027654	NM_000256.3(MYBPC3):c.2994+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 180973	NM_000256.3(MYBPC3):c.2533C>G (p.Arg845Gly)	MYBPC3 (R845G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1027653	NM_000256.3(MYBPC3):c.2132G>A (p.Trp711Ter)	MYBPC3 (W711*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GPathogenic
Select item 1343457	NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)	MYBPC3 (Y525fs)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 662561	NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)	MYBPC3 (E480fs)	Indel (frameshift variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 689588	NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)	MYH7 (R1289Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +9 more	GUncertain significance
Select item 164342	NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)	MYH7 (I736T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 637005	NM_000257.4(MYH7):c.1000-1G>A	MYH7	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 689573	NM_000257.4(MYH7):c.674C>T (p.Pro225Leu)	MYH7 (P225L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2501805	NM_000257.4(MYH7):c.578A>G (p.Gln193Arg)	MYH7 (Q193R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1343388	NM_145046.5(CALR3):c.961G>A (p.Asp321Asn)	CALR3 (D321N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 181590	NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)	TNNI3 (K193E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 43381	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	TNNI3 (R141Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 689589	NM_001159699.2(FHL1):c.549G>C (p.Lys183Asn)	FHL1 (K167N +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance