"Ambry Genetics"[submitter] AND "LOC126806429"[gene] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46666	NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)	LOC126806429, TTN (M6716K +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 46664	NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)	LOC126806429, TTN (T6659M +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GBenign/Likely benign