SRSF11[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +252 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	TYW3, UBE2U +209 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 148089	GRCh38/hg38 1p31.1(chr1:69324212-70840573)x1	ANKRD13C, ANKRD13C-DT +25 more	Copy number loss	See cases	GUncertain significance
Select item 2375127	NM_001350605.2(SRSF11):c.14C>T (p.Thr5Ile)	SRSF11 (T5I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271097	NM_001350605.2(SRSF11):c.53G>T (p.Gly18Val)	SRSF11 (G18V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609685	NM_001350605.2(SRSF11):c.68G>A (p.Gly23Asp)	SRSF11 (G23D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3170252	NM_001350605.2(SRSF11):c.103A>G (p.Ile35Val)	SRSF11 (I35V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559463	NM_001350605.2(SRSF11):c.269T>C (p.Val90Ala)	SRSF11 (V101A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2429831	NM_001350605.2(SRSF11):c.271G>C (p.Val91Leu)	SRSF11 (V102L +1 more)	Single nucleotide variant (missense variant +2 more)	Autism spectrum disorder	GLikely benign
Select item 3170254	NM_001350605.2(SRSF11):c.331G>A (p.Ala111Thr)	SRSF11 (A111T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3040669	NM_001350605.2(SRSF11):c.498C>G (p.Ala166=)	SRSF11	Single nucleotide variant (synonymous variant +2 more)	SRSF11-related disorder	GLikely benign
Select item 2222167	NM_001350605.2(SRSF11):c.1004G>A (p.Arg335His)	SRSF11 (R145H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521179	NM_001350605.2(SRSF11):c.1099C>T (p.Arg367Cys)	SRSF11 (R177C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048996	NM_001350605.2(SRSF11):c.1407A>T (p.Lys469Asn)	SRSF11 (K278N +8 more)	Single nucleotide variant (missense variant +1 more)	SRSF11-related disorder	GUncertain significance
Select item 1809428	GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1	ANKRD13C, CTH +8 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814092	GRCh37/hg19 1p31.1(chr1:70121864-70894764)x3	HHLA3, LRRC7 +4 more	Copy number gain	not provided	GLikely benign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ITGB3BP, JAK1 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 35