XRCC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 145486	GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1	ABCF2, ABCF2-H2BK1 +98 more	Copy number loss	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 154377	GRCh38/hg38 7q36.1-36.2(chr7:151424353-153358923)x1	ACTR3B, CRYGN +77 more	Copy number loss	See cases	GUncertain significance
Select item 155553	GRCh38/hg38 7q36.1(chr7:151843296-152652302)x3	GALNT11, GALNTL5 +30 more	Copy number gain	See cases	GLikely benign
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 154095	GRCh38/hg38 7q36.1-36.2(chr7:152438976-152964146)x3	ACTR3B, LINC01003 +9 more	Copy number gain	See cases	GUncertain significance
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 417511	NC_000007.13:g.(?_152343583)_(152346448_?)dup	XRCC2	Duplication	not specified	GUncertain significance
Select item 212618	NM_005431.2(XRCC2):c.*1925A>C	XRCC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1291098	NM_005431.2(XRCC2):c.227_228del	XRCC2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1181545	NM_005431.2(XRCC2):c.*228del	XRCC2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1272331	NM_005431.2(XRCC2):c.*183C>T	XRCC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1290638	NM_005431.2(XRCC2):c.*40G>C	XRCC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 657910	NC_000007.13:g.(?_152345717)_(152373174_?)dup	LOC129999685, XRCC2	Duplication	not provided	GUncertain significance
Select item 486724	NM_005431.2(XRCC2):c.*1T>C	XRCC2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign
Select item 224594	NM_005431.1(XRCC2):c.122-?_*(1_?)del	XRCC2	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1762998	NM_005431.2(XRCC2):c.834_843del (p.Glu278fs)	XRCC2 (E278fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 391235	NM_005431.2(XRCC2):c.842G>A (p.Ter281=)	XRCC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1763291	NM_005431.2(XRCC2):c.840T>C (p.Cys280=)	XRCC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1763222	NM_005431.2(XRCC2):c.839G>A (p.Cys280Tyr)	XRCC2 (C280Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1763015	NM_005431.2(XRCC2):c.834A>G (p.Glu278=)	XRCC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1762980	NM_005431.2(XRCC2):c.833A>G (p.Glu278Gly)	XRCC2 (E278G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1762957	NM_005431.2(XRCC2):c.832G>A (p.Glu278Lys)	XRCC2 (E278K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1762797	NM_005431.2(XRCC2):c.829G>A (p.Val277Ile)	XRCC2 (V277I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1720248	NM_005431.2(XRCC2):c.829G>T (p.Val277Phe)	XRCC2 (V277F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1762768	NM_005431.2(XRCC2):c.828G>C (p.Gly276=)	XRCC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 702133	NM_005431.2(XRCC2):c.828G>A (p.Gly276=)	XRCC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2587808	NM_005431.2(XRCC2):c.827G>A (p.Gly276Glu)	XRCC2 (G276E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 182999	NM_005431.2(XRCC2):c.826G>A (p.Gly276Arg)	XRCC2 (G276R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 827540	NM_005431.2(XRCC2):c.825T>G (p.Ser275Arg)	XRCC2 (S275R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 486725	NM_005431.2(XRCC2):c.825T>C (p.Ser275=)	XRCC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 1350619	NM_005431.2(XRCC2):c.822_823insTTTTTTTTTTTTTTTTTNNNNNNNNNNNNGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC (p.Ser275delinsPhePhePhePhePheXaaXaaXaaXaaXaaIleSerTer)	XRCC2	Insertion (nonsense)	not provided	GUncertain significance
Select item 1762529	NM_005431.2(XRCC2):c.822A>C (p.Glu274Asp)	XRCC2 (E274D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 545838	NM_005431.2(XRCC2):c.820_821dup (p.Ser275fs)	XRCC2 (S275fs)	Microsatellite (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1762493	NM_005431.2(XRCC2):c.821A>C (p.Glu274Ala)	XRCC2 (E274A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 419716	NM_005431.2(XRCC2):c.821A>G (p.Glu274Gly)	XRCC2 (E274G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1962760	NM_005431.2(XRCC2):c.818G>A (p.Gly273Glu)	XRCC2 (G273E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319869	NM_005431.2(XRCC2):c.817G>A (p.Gly273Arg)	XRCC2 (G273R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1762168	NM_005431.2(XRCC2):c.811ATT[1] (p.Ile272del)	XRCC2 (I272del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 418618	NM_005431.2(XRCC2):c.810dup (p.Ile271fs)	XRCC2 (I271fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127966	NM_005431.2(XRCC2):c.811A>G (p.Ile271Val)	XRCC2 (I271V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 183004	NM_005431.2(XRCC2):c.808_810del (p.Phe270del)	XRCC2 (F270del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3224701	NM_005431.2(XRCC2):c.809T>G (p.Phe270Cys)	XRCC2 (F270C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127965	NM_005431.2(XRCC2):c.808T>G (p.Phe270Val)	XRCC2 (F270V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1761913	NM_005431.2(XRCC2):c.807T>G (p.Phe269Leu)	XRCC2 (F269L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224700	NM_005431.2(XRCC2):c.805T>A (p.Phe269Ile)	XRCC2 (F269I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2447658	NM_005431.2(XRCC2):c.805T>C (p.Phe269Leu)	XRCC2 (F269L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1761806	NM_005431.2(XRCC2):c.804T>A (p.His268Gln)	XRCC2 (H268Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 827391	NM_005431.2(XRCC2):c.801_803del (p.Lys267_His268delinsAsn)	XRCC2	Deletion (inframe_indel)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 422262	NM_005431.2(XRCC2):c.803del (p.His268fs)	XRCC2 (H268fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1761727	NM_005431.2(XRCC2):c.802C>T (p.His268Tyr)	XRCC2 (H268Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1394673	NM_005431.2(XRCC2):c.801dup (p.His268fs)	XRCC2 (H268fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2619690	NM_005431.2(XRCC2):c.801A>C (p.Lys267Asn)	XRCC2 (K267N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2447654	NM_005431.2(XRCC2):c.801del (p.Lys267fs)	XRCC2 (K267fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1138487	NM_005431.2(XRCC2):c.801A>G (p.Lys267=)	XRCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1692901	NM_005431.2(XRCC2):c.795A>T (p.Leu265Phe)	XRCC2 (L265F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2720769	NM_005431.2(XRCC2):c.794T>A (p.Leu265Ter)	XRCC2 (L265*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1018821	NM_005431.2(XRCC2):c.794T>G (p.Leu265Ter)	XRCC2 (L265*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 948424	NM_005431.2(XRCC2):c.794del (p.Ser264_Leu265insTer)	XRCC2	Deletion (nonsense)	not provided	GUncertain significance
Select item 584722	NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser)	XRCC2 (L265S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group U	GUncertain significance
Select item 2892656	NM_005431.2(XRCC2):c.793T>C (p.Leu265=)	XRCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1761324	NM_005431.2(XRCC2):c.793T>A (p.Leu265Ile)	XRCC2 (L265I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1761284	NM_005431.2(XRCC2):c.792T>C (p.Ser264=)	XRCC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1761221	NM_005431.2(XRCC2):c.791G>A (p.Ser264Asn)	XRCC2 (S264N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 409961	NM_005431.2(XRCC2):c.789_790del (p.Asn263fs)	XRCC2 (N263fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1520709	NM_005431.2(XRCC2):c.789C>G (p.Asn263Lys)	XRCC2 (N263K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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