Related gene-specific medical variations for Gene (Select 79157) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058855	NM_001195427.2(SRSF2):c.144C>T (p.Asp48=)	MFSD11, SRSF2	Single nucleotide variant (synonymous variant +2 more)	SRSF2-related disorder	GBenign
Select item 2648320	NM_001195427.2(SRSF2):c.183C>T (p.Arg61=)	MFSD11, SRSF2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2504111	NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)	MFSD11, SRSF2 (P95L)	Single nucleotide variant (missense variant +2 more)	Acute myeloid leukemia +1 more	GPathogenic
Select item 2374008	NM_001195427.2(SRSF2):c.317C>T (p.Pro106Leu)	MFSD11, SRSF2 (P106L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1340578	GRCh37/hg19 17q25.1-25.2(chr17:74738014-74835074)x1	MFSD11	Copy number loss	not provided	GLikely benign
Select item 998075	NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)	MFSD11, SRSF2 (P95R)	Single nucleotide variant (missense variant +2 more)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 815955	GRCh37/hg19 17q25.1-25.2(chr17:74742740-74835074)x1	MFSD11	Copy number loss	not provided	GLikely benign

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