S100A13[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 3157387	NM_001024211.2(S100A13):c.284T>C (p.Ile95Thr)	S100A13 (I95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065489	NM_001024211.2(S100A13):c.238_241del (p.Ile80fs)	S100A13 (I80fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2373967	NM_001024211.2(S100A13):c.221A>G (p.Asn74Ser)	S100A13 (N74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361785	NM_001024211.2(S100A13):c.206C>T (p.Ser69Leu)	S100A13 (S69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406058	NM_001024211.2(S100A13):c.198T>A (p.Asn66Lys)	S100A13 (N66K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398287	NM_001024211.2(S100A13):c.103G>A (p.Val35Ile)	S100A13 (V35I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324790	NM_001024211.2(S100A13):c.83G>A (p.Gly28Asp)	S100A13 (G28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157388	NM_001024211.2(S100A13):c.53C>T (p.Thr18Ile)	S100A13 (T18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260489	NM_001024211.2(S100A13):c.20C>T (p.Thr7Ile)	S100A13 (T7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725490	NM_006271.2(S100A1):c.60G>A (p.Ser20=)	S100A1, S100A13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2515898	NM_006271.2(S100A1):c.119C>T (p.Thr40Met)	S100A1, S100A13 (T40M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329285	NM_006271.2(S100A1):c.171G>T (p.Lys57Asn)	S100A1, S100A13 (K57N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352245	NM_006271.2(S100A1):c.242C>T (p.Ala81Val)	S100A1, S100A13 (A81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157381	NM_006271.2(S100A1):c.279C>G (p.Asn93Lys)	S100A1, S100A13 (N93K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063377	GRCh37/hg19 1q21.3(chr1:153354333-153703053)x3	CHTOP, ILF2 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685828	GRCh37/hg19 1q21.3(chr1:153460453-153737619)x3	CHTOP, ILF2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DAP3, MINDY1 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 814129	GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3	SPRR2F, SPRR2G +29 more	Copy number gain	not provided	GUncertain significance
Select item 686513	GRCh37/hg19 1q21.3(chr1:153321482-153835605)x3	CHTOP, GATAD2B +20 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	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 221419	GRCh37/hg19 1q21.3(chr1:153412418-153604246)x3	S100A13, S100A14 +9 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 28