ClinVar for Gene (Select 26097) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144859	NM_015607.4(CHTOP):c.590G>A (p.Arg197Gln)	CHTOP (R197Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144857	NM_015607.4(CHTOP):c.329G>A (p.Arg110Lys)	CHTOP (R110K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144856	NM_015607.4(CHTOP):c.305G>A (p.Gly102Glu)	CHTOP (G102E +1 more)	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 3025635	NM_015607.4(CHTOP):c.579AGGCCG[4] (p.Gly204_Ala205insArgGly)	CHTOP	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2685828	GRCh37/hg19 1q21.3(chr1:153460453-153737619)x3	CHTOP, ILF2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2598779	NM_015607.4(CHTOP):c.377T>C (p.Leu126Pro)	CHTOP (L127P +1 more)	Single nucleotide variant (intron 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 2563293	NM_015607.4(CHTOP):c.623G>A (p.Arg208His)	CHTOP (R209H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532770	NM_015607.4(CHTOP):c.526G>A (p.Gly176Arg)	CHTOP (G176R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472814	NM_015607.4(CHTOP):c.547G>A (p.Gly183Ser)	CHTOP (G183S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470658	NM_015607.4(CHTOP):c.506G>A (p.Arg169His)	CHTOP (R169H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364505	NM_015607.4(CHTOP):c.98C>T (p.Thr33Met)	CHTOP (T33M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352568	NM_015607.4(CHTOP):c.298A>G (p.Ile100Val)	CHTOP (I100V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309595	NM_015607.4(CHTOP):c.673T>A (p.Ser225Thr)	CHTOP (S179T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277945	NM_015607.4(CHTOP):c.311G>C (p.Gly104Ala)	CHTOP (G104A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251666	NM_015607.4(CHTOP):c.550A>T (p.Met184Leu)	CHTOP (M184L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	LCE1C, LCE1D +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57790	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 30