"Ambry Genetics"[submitter] AND "SRSF12"[gene] - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2208412	NM_080743.5(SRSF12):c.767G>A (p.Arg256His)	PM20D2, SRSF12 (R161H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559334	NM_080743.5(SRSF12):c.739C>T (p.Arg247Trp)	PM20D2, SRSF12 (R247W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540841	NM_080743.5(SRSF12):c.638A>G (p.His213Arg)	PM20D2, SRSF12 (H118R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301000	NM_080743.5(SRSF12):c.602A>G (p.Gln201Arg)	PM20D2, SRSF12 (Q106R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323399	NM_080743.5(SRSF12):c.479G>A (p.Arg160Gln)	PM20D2, SRSF12 (R160Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380822	NM_080743.5(SRSF12):c.425A>C (p.His142Pro)	SRSF12, PM20D2 (H47P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292117	NM_080743.5(SRSF12):c.348C>A (p.Ser116Arg)	SRSF12, PM20D2 (S116R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464625	NM_080743.5(SRSF12):c.79C>T (p.Arg27Cys)	PM20D2, SRSF12 (R27C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance