"OMIM"[submitter] AND "LOC126862987"[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 95388	NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)	LOC126862987, SEC23B (V164L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1227	NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)	LOC126862987, SEC23B (R217* +1 more)	Single nucleotide variant (nonsense)	Cowden syndrome 7 +2 more	GPathogenic/Likely pathogenic