SRSF10[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 145815	GRCh38/hg38 1p36.11(chr1:23956536-23979263)x3	LOC129929694, LOC129929695 +4 more	Copy number gain	See cases	GLikely benign
Select item 144809	GRCh38/hg38 1p36.11(chr1:23956536-24001128)x3	LOC129929694, LOC129929695 +4 more	Copy number gain	See cases	GLikely benign
Select item 2305916	NM_054016.4(SRSF10):c.495C>G (p.Phe165Leu)	SRSF10 (F164L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491508	NM_054016.4(SRSF10):c.463C>T (p.Arg155Cys)	SRSF10 (R154C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2638485	NM_054016.4(SRSF10):c.423G>A (p.Ser141=)	SRSF10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1809397	GRCh37/hg19 1p36.11(chr1:24111388-24686443)x3	CNR2, FUCA1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1809272	GRCh37/hg19 1p36.11(chr1:24111522-24614856)x3	CNR2, FUCA1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance