"Ambry Genetics"[submitter] AND "SRSF8"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2477474	NM_032102.4(SRSF8):c.10G>A (p.Gly4Ser)	SRSF8 (G4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322765	NM_032102.4(SRSF8):c.106A>G (p.Lys36Glu)	SRSF8 (K36E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407205	NM_032102.4(SRSF8):c.140G>T (p.Arg47Leu)	SRSF8 (R47L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295332	NM_032102.4(SRSF8):c.182G>A (p.Arg61His)	SRSF8 (R61H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550306	NM_032102.4(SRSF8):c.196C>A (p.Arg66Ser)	SRSF8 (R66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530535	NM_032102.4(SRSF8):c.206A>G (p.Gln69Arg)	SRSF8 (Q69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322764	NM_032102.4(SRSF8):c.280C>G (p.Arg94Gly)	SRSF8 (R94G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623735	NM_032102.4(SRSF8):c.284G>A (p.Arg95Gln)	SRSF8 (R95Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280206	NM_032102.4(SRSF8):c.311A>G (p.Glu104Gly)	SRSF8 (E104G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247306	NM_032102.4(SRSF8):c.440G>T (p.Arg147Leu)	SRSF8 (R147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263964	NM_032102.4(SRSF8):c.449A>G (p.Tyr150Cys)	SRSF8 (Y150C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257879	NM_032102.4(SRSF8):c.509A>G (p.Tyr170Cys)	SRSF8 (Y170C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign