"Ambry Genetics"[submitter] AND "LOC129992599"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2365441	NM_152540.4(SCFD2):c.143C>A (p.Ala48Glu)	LOC129992599, SCFD2 (A48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158384	NM_152540.4(SCFD2):c.68G>C (p.Arg23Pro)	LOC129992599, SCFD2 (R23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360733	NM_152540.4(SCFD2):c.67C>T (p.Arg23Trp)	LOC129992599, SCFD2 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

Format

Sort by

Choose Destination

ClinVar