S100A7[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 147363	GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3	LELP1, LOC101928009 +33 more	Copy number gain	See cases	GUncertain significance
Select item 2344109	NM_002963.4(S100A7):c.209T>C (p.Ile70Thr)	S100A7 (I70T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592680	NM_002963.4(S100A7):c.169G>A (p.Asp57Asn)	S100A7 (D57N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2596044	NM_002963.4(S100A7):c.68G>A (p.Arg23His)	S100A7 (R23H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639348	NM_002963.4(S100A7):c.55A>C (p.Lys19Gln)	S100A7 (K19Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2685827	GRCh37/hg19 1q21.3(chr1:153097950-153481118)x3	LELP1, LORICRIN +9 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	CKS1B, CLK2 +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	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979294	GRCh37/hg19 1q21.3(chr1:153007105-153463223)x3	SPRR2E, S100A7 +14 more	Copy number gain	not provided	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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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: 20