ClinVar for Gene (Select 6279) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315943	NM_176823.4(S100A7A):c.107T>A (p.Met36Lys)	S100A7A, S100A8 (M36K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315941	NM_176823.4(S100A7A):c.38T>A (p.Met13Lys)	S100A7A, S100A8 (M13K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157407	NM_002964.5(S100A8):c.118A>G (p.Thr40Ala)	S100A8 (T64A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157405	NM_176823.4(S100A7A):c.209T>C (p.Ile70Thr)	S100A7A, S100A8 (I70T)	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 2685827	GRCh37/hg19 1q21.3(chr1:153097950-153481118)x3	LELP1, LORICRIN +9 more	Copy number gain	not provided	GUncertain significance
Select item 2606720	NM_176823.4(S100A7A):c.274G>A (p.Gly92Arg)	S100A7A, S100A8 (G92R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597946	NM_176823.4(S100A7A):c.281C>T (p.Ala94Val)	S100A7A, S100A8 (A94V)	Single nucleotide variant (missense variant +1 more)	not specified	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 2554524	NM_176823.4(S100A7A):c.85A>G (p.Lys29Glu)	S100A7A, S100A8 (K29E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511126	NM_176823.4(S100A7A):c.175T>C (p.Phe59Leu)	S100A7A, S100A8 (F59L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398754	NM_176823.4(S100A7A):c.155T>C (p.Ile52Thr)	S100A7A, S100A8 (I52T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398664	NM_176823.4(S100A7A):c.157C>A (p.His53Asn)	S100A7A, S100A8 (H53N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2362756	NM_002964.5(S100A8):c.217A>T (p.Ile73Phe)	LOC129388608, S100A8 (I81F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330182	NM_176823.4(S100A7A):c.270C>G (p.Ser90Arg)	S100A7A, S100A8 (S90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299153	NM_176823.4(S100A7A):c.87G>T (p.Lys29Asn)	S100A7A, S100A8 (K29N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274755	NM_176823.4(S100A7A):c.290C>A (p.Ser97Tyr)	S100A7A, S100A8 (S97Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260418	NM_002964.5(S100A8):c.151G>A (p.Ala51Thr)	LOC129388608, S100A8 (A51T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DPM3, ECM1 +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +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 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)	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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +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

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Links from Gene

Items: 30