ClinVar for Gene (Select 6283) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157386	NM_005621.2(S100A12):c.242C>A (p.Ala81Glu)	S100A12 (A81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157385	NM_005621.2(S100A12):c.154G>T (p.Ala52Ser)	S100A12 (A52S)	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 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 2329084	NM_005621.2(S100A12):c.208G>T (p.Asp70Tyr)	S100A12 (D70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313925	NM_005621.2(S100A12):c.133A>G (p.Ile45Val)	S100A12 (I45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278782	NM_005621.2(S100A12):c.19C>A (p.His7Asn)	S100A12 (H7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274754	NM_005621.2(S100A12):c.161T>A (p.Ile54Asn)	S100A12 (I54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250478	NM_005621.2(S100A12):c.56C>T (p.Ser19Leu)	S100A12 (S19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232141	NM_005621.2(S100A12):c.196G>T (p.Asp66Tyr)	S100A12 (D66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 770491	NM_005621.2(S100A12):c.18G>A (p.Glu6=)	S100A12	Single nucleotide variant (synonymous variant)	not provided	GBenign
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: 23