RCC2[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 3152695	NM_018715.4(RCC2):c.1512T>A (p.Ser504Arg)	RCC2 (S504R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152693	NM_018715.4(RCC2):c.1178A>G (p.Tyr393Cys)	RCC2 (Y393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313414	NM_018715.4(RCC2):c.1055T>C (p.Phe352Ser)	RCC2 (F352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617131	NM_018715.4(RCC2):c.1048C>G (p.Arg350Gly)	RCC2 (R350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152699	NM_018715.4(RCC2):c.940A>G (p.Ile314Val)	RCC2 (I314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152697	NM_018715.4(RCC2):c.929G>A (p.Arg310Gln)	RCC2 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350920	NM_018715.4(RCC2):c.827A>G (p.Tyr276Cys)	RCC2 (Y276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219300	NM_018715.4(RCC2):c.782G>C (p.Cys261Ser)	RCC2 (C261S)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2311042	NM_018715.4(RCC2):c.451C>T (p.Arg151Trp)	RCC2 (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213755	NM_018715.4(RCC2):c.446G>A (p.Arg149Gln)	RCC2 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272218	NM_018715.4(RCC2):c.385T>C (p.Tyr129His)	RCC2 (Y129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366046	NM_018715.4(RCC2):c.343G>A (p.Asp115Asn)	RCC2 (D115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481329	NM_018715.4(RCC2):c.239G>A (p.Gly80Asp)	RCC2 (G80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365903	NM_018715.4(RCC2):c.238G>T (p.Gly80Cys)	RCC2 (G80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313413	NM_018715.4(RCC2):c.197G>A (p.Gly66Asp)	RCC2 (G66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522400	NM_018715.4(RCC2):c.196G>T (p.Gly66Cys)	RCC2 (G66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152694	NM_018715.4(RCC2):c.124T>A (p.Cys42Ser)	LOC129929546, RCC2 (C42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638396	NM_018715.4(RCC2):c.96G>A (p.Ala32=)	LOC129929546, RCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152698	NM_018715.4(RCC2):c.92C>T (p.Pro31Leu)	LOC129929546, RCC2 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262416	NM_018715.4(RCC2):c.46T>G (p.Ser16Ala)	RCC2 (S16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313415	NM_018715.4(RCC2):c.39G>C (p.Glu13Asp)	RCC2 (E13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511091	NM_018715.4(RCC2):c.31T>C (p.Trp11Arg)	RCC2 (W11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152696	NM_018715.4(RCC2):c.20C>G (p.Ala7Gly)	RCC2 (A7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531240	NM_018715.4(RCC2):c.17C>T (p.Ala6Val)	RCC2 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1341268	GRCh37/hg19 1p36.13(chr1:17284531-17770100)x1	ATP13A2, CROCC +8 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565080	GRCh37/hg19 1p36.13(chr1:17291706-18585289)x3	ACTL8, ARHGEF10L +11 more	Copy number gain	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
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 46