SRSF2[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2464223	NM_001195427.2(SRSF2):c.557G>T (p.Arg186Leu)	SRSF2 (R186L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536561	NM_001195427.2(SRSF2):c.556C>G (p.Arg186Gly)	SRSF2 (R186G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 423166	NM_001195427.2(SRSF2):c.550_555del (p.178RS[6])	SRSF2	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2310902	NM_001195427.2(SRSF2):c.530C>G (p.Ser177Cys)	SRSF2 (S177C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648319	NM_001195427.2(SRSF2):c.504G>A (p.Arg168=)	SRSF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 3322754	NM_001195427.2(SRSF2):c.92G>A (p.Arg31Lys)	LOC130061740, MFSD11 +1 more (R31K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815954	GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1	ST6GALNAC1, MGAT5B +10 more	Copy number loss	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 25