RPA3[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 149268	GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3	C1GALT1, COL28A1 +42 more	Copy number gain	See cases	GLikely benign
Select item 148676	GRCh38/hg38 7p22.1-21.3(chr7:6887830-8054546)x3	C1GALT1, COL28A1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 150899	GRCh38/hg38 7p21.3(chr7:7249455-10718595)x3	COL28A1, GLCCI1 +62 more	Copy number gain	See cases	GLikely benign
Select item 2322366	NM_002947.5(RPA3):c.346G>C (p.Gly116Arg)	RPA3 (G116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546518	NM_002947.5(RPA3):c.315T>G (p.Ile105Met)	RPA3 (I105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228578	NM_002947.5(RPA3):c.301G>A (p.Glu101Lys)	RPA3 (E101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609117	NM_002947.5(RPA3):c.137G>T (p.Gly46Val)	RPA3 (G46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155907	NM_002947.5(RPA3):c.64G>C (p.Asp22His)	LOC129997969, RPA3 (D22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554684	NM_002947.5(RPA3):c.53C>T (p.Ala18Val)	LOC129997969, RPA3 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205026	NM_002947.5(RPA3):c.29C>T (p.Ser10Leu)	LOC129997969, RPA3 (S10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155906	NM_002947.5(RPA3):c.14T>C (p.Met5Thr)	RPA3 (M5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810289	GRCh37/hg19 7p21.3(chr7:7516346-8018481)x1	COL28A1, GLCCI1 +2 more	Copy number loss	not provided	Gnot provided
Select item 1808041	GRCh37/hg19 7p21.3(chr7:7617834-7677809)x1	MIOS, RPA3	Copy number loss	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 814928	GRCh37/hg19 7p22.1-21.3(chr7:6864233-8137002)x3	C1GALT1, GLCCI1 +4 more	Copy number gain	not provided	GLikely benign
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 687162	GRCh37/hg19 7p22.1-21.3(chr7:6874384-7786461)x3	C1GALT1, COL28A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443457	GRCh37/hg19 7p22.1-21.3(chr7:7243998-7770203)x3	C1GALT1, COL28A1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442294	GRCh37/hg19 7p21.3(chr7:7484861-9088037)x3	COL28A1, GLCCI1 +4 more	Copy number gain	See cases	GLikely benign
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 394728	GRCh37/hg19 7p22.1-21.3(chr7:6870884-8177933)x3	C1GALT1, COL28A1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 45