S100A6[gene] - ClinVar

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Items: 23

	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 777934	NM_014624.4(S100A6):c.269G>A (p.Gly90Asp)	S100A6 (G90D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2593121	NM_014624.4(S100A6):c.190A>G (p.Lys64Glu)	S100A6 (K64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301708	NM_014624.4(S100A6):c.181del (p.Asp61fs)	S100A6 (D61fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2600986	NM_014624.4(S100A6):c.152C>T (p.Ala51Val)	S100A6 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589747	NM_014624.4(S100A6):c.137C>T (p.Ser46Leu)	S100A6 (S46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315938	NM_014624.4(S100A6):c.92A>C (p.Lys31Thr)	S100A6 (K31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470525	NM_014624.4(S100A6):c.61G>A (p.Gly21Ser)	S100A6 (G21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284603	NM_014624.4(S100A6):c.37G>A (p.Val13Met)	S100A6 (V13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532433	NM_014624.4(S100A6):c.4G>T (p.Ala2Ser)	S100A6 (A2S)	Single nucleotide variant (missense variant)	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	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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)	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 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: 23