"Genome-Nilou Lab"[submitter] AND "MYBPC3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42700	NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 188543	NM_000256.3(MYBPC3):c.1223+29G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +3 more	GBenign
Select item 188541	NM_000256.3(MYBPC3):c.1091-24C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +3 more	GBenign
Select item 42786	NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)	MYBPC3 (S236G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 42763	NC_000011.10:g.47349937del	MYBPC3	Deletion (intron variant)	Left ventricular noncompaction 10 +6 more	GBenign/Likely benign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File