6037[HGNC] - ClinVar

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Items: 26

	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 160920	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GUncertain significance
Select item 57790	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GBenign
Select item 3109486	NM_004515.4(ILF2):c.1149A>C (p.Glu383Asp)	ILF2 (E345D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510809	NM_004515.4(ILF2):c.1129C>G (p.Pro377Ala)	ILF2 (P339A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521548	NM_004515.4(ILF2):c.956G>A (p.Arg319Gln)	ILF2 (R319Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109488	NM_004515.4(ILF2):c.751T>G (p.Tyr251Asp)	ILF2 (Y251D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396943	NM_004515.4(ILF2):c.623C>G (p.Ala208Gly)	ILF2 (A208G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285923	NM_004515.4(ILF2):c.535A>G (p.Thr179Ala)	ILF2 (T179A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109487	NM_004515.4(ILF2):c.427G>T (p.Val143Leu)	ILF2 (V105L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285922	NM_004515.4(ILF2):c.200A>G (p.Asn67Ser)	ILF2 (N29S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285921	NM_004515.4(ILF2):c.152C>G (p.Thr51Ser)	ILF2 (T13S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285920	NM_004515.4(ILF2):c.124C>T (p.Pro42Ser)	ILF2 (P42S +1 more)	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 560079	Single allele	CHTOP, ILF2 +3 more	Duplication	not provided	GUncertain significance
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

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Items: 26