RCC1[gene] - ClinVar

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Items: 41

	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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 148584	GRCh38/hg38 1p35.3(chr1:28298657-28634562)x1	LOC112577575, LOC112577576 +24 more	Copy number loss	See cases	GUncertain significance
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 2528008	NM_001381865.2(RCC1):c.13C>A (p.Arg5Ser)	RCC1 (R5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206505	NM_001381865.2(RCC1):c.13C>T (p.Arg5Cys)	RCC1 (R5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313412	NM_001381865.2(RCC1):c.14G>A (p.Arg5His)	RCC1 (R5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313411	NM_001381865.2(RCC1):c.73+661C>A	RCC1 (Q51K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404001	NM_001381865.2(RCC1):c.73+667A>C	RCC1 (T53P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152690	NM_001381865.2(RCC1):c.73+671G>A	RCC1 (R54Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2687490	NM_001381865.2(RCC1):c.127G>A (p.Gly43Ser)	RCC1 (G43S +2 more)	Single nucleotide variant (missense variant)	See cases	GPathogenic
Select item 2240331	NM_001381865.2(RCC1):c.130G>A (p.Asp44Asn)	RCC1 (D61N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687491	NM_001381865.2(RCC1):c.238G>A (p.Val80Met)	RCC1 (V111M +2 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2687492	NM_001381865.2(RCC1):c.280A>G (p.Asn94Asp)	RCC1 (N111D +2 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2487844	NM_001381865.2(RCC1):c.306C>A (p.Asp102Glu)	RCC1 (D102E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687493	NM_001381865.2(RCC1):c.330G>C (p.Met110Ile)	RCC1 (M110I +2 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2687494	NM_001381865.2(RCC1):c.416G>A (p.Arg139His)	RCC1 (R139H +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3152691	NM_001381865.2(RCC1):c.418G>A (p.Val140Ile)	RCC1 (V157I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312693	NM_001381865.2(RCC1):c.446A>G (p.Asn149Ser)	RCC1 (N149S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550985	NM_001381865.2(RCC1):c.544G>A (p.Asp182Asn)	RCC1 (D213N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687495	NM_001381865.2(RCC1):c.604G>A (p.Gly202Ser)	RCC1 (G202S +2 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2462155	NM_001381865.2(RCC1):c.749A>G (p.Tyr250Cys)	RCC1 (Y267C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464416	NM_001381865.2(RCC1):c.824C>T (p.Pro275Leu)	RCC1 (P292L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389943	NM_001381865.2(RCC1):c.834A>C (p.Glu278Asp)	RCC1 (E295D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152692	NM_001381865.2(RCC1):c.878C>T (p.Thr293Ile)	RCC1 (T293I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322601	NM_001381865.2(RCC1):c.938G>A (p.Gly313Glu)	RCC1 (G344E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510311	NM_001381865.2(RCC1):c.1046C>T (p.Ser349Leu)	RCC1 (S349L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516258	NM_001381865.2(RCC1):c.1054T>A (p.Cys352Ser)	RCC1 (C352S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152686	NM_001381865.2(RCC1):c.1146T>A (p.Asp382Glu)	RCC1 (D413E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152687	NM_001381865.2(RCC1):c.1147G>A (p.Glu383Lys)	RCC1 (E383K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152688	NM_001381865.2(RCC1):c.1165G>A (p.Val389Met)	RCC1 (V389M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687496	NM_001381865.2(RCC1):c.1195C>T (p.Arg399Cys)	RCC1 (R399C +2 more)	Single nucleotide variant (missense variant)	See cases	GPathogenic
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
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 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 395120	GRCh37/hg19 1p35.3(chr1:28666901-28929761)x3	PHACTR4, RAB42 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 41