"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665104	NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del	MADD, MYBPC3	Deletion	Hypertrophic cardiomyopathy 4	GPathogenic
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 2444514	NM_000256.3(MYBPC3):c.2905+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	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 1698372	NM_000256.3(MYBPC3):c.2068-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GLikely pathogenic
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 1684304	NM_000256.3(MYBPC3):c.407-9T>G	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance