"Blueprint Genetics"[submitter] AND "SPRED1"[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 636663	NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer)	SPRED1	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 636493	NM_152594.3(SPRED1):c.906_910del (p.Leu302fs)	SPRED1 (L302fs)	Microsatellite (frameshift variant)	Legius syndrome +1 more	GPathogenic/Likely pathogenic