7515[geneid] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60276	GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	CD177, ETHE1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145905	GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	CD177, ETHE1 +14 more	Copy number gain	See cases	GLikely benign
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance
Select item 2580277	NM_006297.3(XRCC1):c.*13AC[17]	XRCC1	Microsatellite (3 prime UTR variant)	Laryngeal squamous cell carcinoma	Gassociation
Select item 2580276	NM_006297.3(XRCC1):c.*13AC[12]	XRCC1	Microsatellite (3 prime UTR variant)	Laryngeal squamous cell carcinoma	Gassociation
Select item 1684239	NM_006297.3(XRCC1):c.1896A>G (p.Gln632=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3239065	NM_006297.3(XRCC1):c.1892C>T (p.Pro631Leu)	XRCC1 (P631L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302203	NM_006297.3(XRCC1):c.1882G>A (p.Gly628Arg)	XRCC1 (G628R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558168	NM_006297.3(XRCC1):c.1822C>T (p.Arg608Cys)	XRCC1 (R608C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404154	NM_006297.3(XRCC1):c.1790C>T (p.Ala597Val)	XRCC1 (A597V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1032426	NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp)	XRCC1 (R580W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 26	GUncertain significance
Select item 3376008	NM_006297.3(XRCC1):c.1736A>G (p.Asp579Gly)	XRCC1 (D579G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481920	NM_006297.3(XRCC1):c.1733G>A (p.Ser578Asn)	XRCC1 (S578N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267004	NM_006297.3(XRCC1):c.1729A>C (p.Met577Leu)	XRCC1 (M577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675749	NM_006297.3(XRCC1):c.1713G>A (p.Gly571=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879445	NM_006297.3(XRCC1):c.1676G>A (p.Arg559Gln)	XRCC1 (R559Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3333520	NM_006297.3(XRCC1):c.1660T>C (p.Phe554Leu)	XRCC1 (F554L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220092	NM_006297.3(XRCC1):c.1657G>A (p.Glu553Lys)	XRCC1 (E553K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764924	NM_006297.3(XRCC1):c.1622-9C>G	XRCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3040249	NM_006297.3(XRCC1):c.1605A>G (p.Pro535=)	XRCC1	Single nucleotide variant (synonymous variant)	XRCC1-related disorder	GLikely benign
Select item 2605112	NM_006297.3(XRCC1):c.1582C>A (p.His528Asn)	XRCC1 (H528N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378660	NM_006297.3(XRCC1):c.1550G>C (p.Gly517Ala)	XRCC1 (G517A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245878	NM_006297.3(XRCC1):c.1481+9G>A	XRCC1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive 26 +1 more	GBenign
Select item 3191277	NM_006297.3(XRCC1):c.1479G>C (p.Arg493Ser)	XRCC1 (R493S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335351	NM_006297.3(XRCC1):c.1454C>A (p.Ser485Tyr)	XRCC1 (S485Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762540	NM_006297.3(XRCC1):c.1407C>T (p.Asp469=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 433532	NM_006297.3(XRCC1):c.1393C>T (p.Gln465Ter)	XRCC1 (Q465*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive 26	GPathogenic
Select item 2498785	NM_006297.3(XRCC1):c.1375G>A (p.Ala459Thr)	XRCC1 (A459T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611982	NM_006297.3(XRCC1):c.1310C>T (p.Thr437Ile)	XRCC1 (T437I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 433531	NM_006297.3(XRCC1):c.1293G>C (p.Lys431Asn)	XRCC1 (K431N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 726867	NM_006297.3(XRCC1):c.1221T>A (p.Gly407=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 225976	NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg)	XRCC1 (Q399R)	Single nucleotide variant (missense variant)	Platinum compounds response - Efficacy	Gdrug response
Select item 2219380	NM_006297.3(XRCC1):c.1162G>A (p.Asp388Asn)	XRCC1 (D388N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778847	NM_006297.3(XRCC1):c.1083-4C>G	XRCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781452	NM_006297.3(XRCC1):c.1083-11dup	XRCC1	Duplication (intron variant)	not provided	GBenign
Select item 1306871	NM_006297.3(XRCC1):c.1016G>A (p.Arg339Gln)	XRCC1 (R339Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573207	NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)	XRCC1 (R339*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive 26	GLikely pathogenic
Select item 2498786	NM_006297.3(XRCC1):c.981G>C (p.Leu327=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726288	NM_006297.3(XRCC1):c.978G>T (p.Val326=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053358	NM_006297.3(XRCC1):c.925C>T (p.Pro309Ser)	XRCC1 (P309S)	Single nucleotide variant (missense variant)	XRCC1-related disorder	GLikely benign
Select item 2210834	NM_006297.3(XRCC1):c.913G>A (p.Glu305Lys)	XRCC1 (E305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777495	NM_006297.3(XRCC1):c.910A>G (p.Thr304Ala)	XRCC1 (T304A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719831	NM_006297.3(XRCC1):c.900A>G (p.Arg300=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731647	NM_006297.3(XRCC1):c.899G>A (p.Arg300Gln)	XRCC1 (R300Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650065	NM_006297.3(XRCC1):c.880G>A (p.Ala294Thr)	XRCC1 (A294T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3191283	NM_006297.3(XRCC1):c.869G>A (p.Arg290Gln)	XRCC1 (R290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708626	NM_006297.3(XRCC1):c.851C>T (p.Thr284Ile)	XRCC1 (T284I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2580278	NM_006297.3(XRCC1):c.839G>A (p.Arg280His)	XRCC1 (R280H)	Single nucleotide variant (missense variant)	Laryngeal squamous cell carcinoma	Gassociation
Select item 3333519	NM_006297.3(XRCC1):c.838C>T (p.Arg280Cys)	XRCC1 (R280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735276	NM_006297.3(XRCC1):c.818C>T (p.Pro273Leu)	XRCC1 (P273L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 548581	NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del)	XRCC1 (K256del)	Microsatellite (inframe_deletion)	Spinocerebellar ataxia, autosomal recessive 26	GUncertain significance
Select item 2353832	NM_006297.3(XRCC1):c.713C>T (p.Pro238Leu)	XRCC1 (P238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191282	NM_006297.3(XRCC1):c.697G>A (p.Gly233Ser)	XRCC1 (G233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035772	NM_006297.3(XRCC1):c.667T>G (p.Ser223Ala)	XRCC1 (S223A)	Single nucleotide variant (missense variant)	XRCC1-related disorder	GLikely benign
Select item 1684240	NM_006297.3(XRCC1):c.618A>G (p.Pro206=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2580279	NM_006297.3(XRCC1):c.602-33C>T	XRCC1	Single nucleotide variant (intron variant)	Laryngeal squamous cell carcinoma	Gassociation
Select item 376355	NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp)	XRCC1 (R194W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777496	NM_006297.3(XRCC1):c.570C>G (p.Leu190=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3191281	NM_006297.3(XRCC1):c.544G>A (p.Ala182Thr)	XRCC1 (A182T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 736813	NM_006297.3(XRCC1):c.483G>A (p.Pro161=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784399	NM_006297.3(XRCC1):c.482C>T (p.Pro161Leu)	XRCC1 (P161L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2332035	NM_006297.3(XRCC1):c.422C>G (p.Pro141Arg)	XRCC1 (P141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742551	NM_006297.3(XRCC1):c.414+8G>A	XRCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3191280	NM_006297.3(XRCC1):c.404C>T (p.Pro135Leu)	XRCC1 (P135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650066	NM_006297.3(XRCC1):c.399C>T (p.Ser133=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536454	NM_006297.3(XRCC1):c.382G>C (p.Val128Leu)	XRCC1 (V128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026064	NM_006297.3(XRCC1):c.380G>A (p.Arg127Gln)	XRCC1 (R127Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438629	NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)	XRCC1 (R118W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3333516	NM_006297.3(XRCC1):c.347T>C (p.Leu116Pro)	XRCC1 (L116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333521	NM_006297.3(XRCC1):c.345G>C (p.Lys115Asn)	XRCC1 (K115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733870	NM_006297.3(XRCC1):c.320G>A (p.Arg107His)	XRCC1 (R107H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2370684	NM_006297.3(XRCC1):c.298C>T (p.Arg100Cys)	XRCC1 (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724299	NM_006297.3(XRCC1):c.291C>T (p.Ser97=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609840	NM_006297.3(XRCC1):c.286C>T (p.Pro96Ser)	XRCC1 (P96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222909	NM_006297.3(XRCC1):c.284C>A (p.Ser95Tyr)	XRCC1 (S95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333517	NM_006297.3(XRCC1):c.281T>C (p.Met94Thr)	XRCC1 (M94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026131	NM_006297.3(XRCC1):c.254A>G (p.Glu85Gly)	XRCC1 (E85G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335352	NM_006297.3(XRCC1):c.251A>G (p.Tyr84Cys)	XRCC1 (Y84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068604	NM_006297.3(XRCC1):c.209_233dup (p.Glu81fs)	XRCC1 (E81fs)	Duplication (frameshift variant)	Spinocerebellar ataxia, autosomal recessive 26	GUncertain significance
Select item 738669	NM_006297.3(XRCC1):c.234C>T (p.Gly78=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3191278	NM_006297.3(XRCC1):c.217G>T (p.Gly73Cys)	XRCC1 (G73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711731	NM_006297.3(XRCC1):c.215T>C (p.Val72Ala)	XRCC1 (V72A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 744987	NM_006297.3(XRCC1):c.202G>A (p.Val68Met)	XRCC1 (V68M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710384	NM_006297.3(XRCC1):c.150G>A (p.Glu50=)	XRCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2438628	NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)	XRCC1 (Y30*)	Duplication (nonsense)	Spinocerebellar ataxia, autosomal recessive 26	GUncertain significance
Select item 1176082	NM_006297.3(XRCC1):c.20G>T (p.Arg7Leu)	XRCC1 (R7L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3060460	NM_006297.3(XRCC1):c.-1C>T	XRCC1	Single nucleotide variant (5 prime UTR variant)	XRCC1-related disorder	GBenign
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 1808065	GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	CD177, CEACAM8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1526666	GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076)	CD177, CEACAM8 +19 more	Copy number gain	not specified	GUncertain significance
Select item 687817	GRCh37/hg19 19q13.31(chr19:43818072-44100076)x3	CD177, ETHE1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686955	GRCh37/hg19 19q13.31(chr19:44004424-44080746)x3	ETHE1, PHLDB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685142	GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3	CD177, ETHE1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564583	GRCh37/hg19 19q13.31(chr19:43846269-44055858)x4	LYPD3, XRCC1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 100