MRE11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 60640	NM_005591.4(MRE11):c.*2731G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Malignant tumor of urinary bladder	Gother
Select item 882609	NM_005591.4(MRE11):c.*2704G>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306447	NM_005591.4(MRE11):c.*2703A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 882610	NM_005591.4(MRE11):c.*2700C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306448	NM_005591.4(MRE11):c.*2699A>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GBenign
Select item 306449	NM_005591.4(MRE11):c.*2662A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GBenign
Select item 882611	NM_005591.4(MRE11):c.*2658A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 883389	NM_005591.4(MRE11):c.*2531A>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306450	NM_005591.4(MRE11):c.*2501A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GBenign
Select item 883390	NM_005591.4(MRE11):c.*2466T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GBenign
Select item 306451	NM_005591.4(MRE11):c.*2452C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306452	NM_005591.4(MRE11):c.*2444A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GLikely benign
Select item 883391	NM_005591.4(MRE11):c.*2324G>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306453	NM_005591.4(MRE11):c.*2320T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306454	NM_005591.4(MRE11):c.*2296A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306455	NM_005591.4(MRE11):c.*2258G>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306456	NM_005591.4(MRE11):c.*2178A>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 881040	NM_005591.4(MRE11):c.*2170A>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306457	NM_005591.4(MRE11):c.*2106T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306458	NM_005591.4(MRE11):c.*2067A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GBenign
Select item 881041	NM_005591.4(MRE11):c.*2053T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GBenign
Select item 127018	NM_005591.4(MRE11):c.*1933G>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 881042	NM_005591.4(MRE11):c.*1900C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 127019	NM_005591.4(MRE11):c.*1776C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306459	NM_005591.4(MRE11):c.*1766G>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GBenign
Select item 127020	NM_005591.4(MRE11):c.*1746G>T	MRE11	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 306460	NM_005591.4(MRE11):c.*1743dup	MRE11	Duplication (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GLikely benign
Select item 881500	NM_005591.4(MRE11):c.*1704G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306461	NM_005591.4(MRE11):c.*1661A>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306462	NM_005591.4(MRE11):c.*1554C>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306463	NM_005591.4(MRE11):c.*1366G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 60639	NM_005591.4(MRE11):c.*1359T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Malignant tumor of urinary bladder	Gother
Select item 306464	NM_005591.4(MRE11):c.*1304A>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 127021	NM_005591.4(MRE11):c.*1228A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 881501	NM_005591.4(MRE11):c.*1174C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306465	NM_005591.4(MRE11):c.*1086A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306466	NM_005591.4(MRE11):c.*1083T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GBenign
Select item 882656	NM_005591.4(MRE11):c.*1082T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306467	NM_005591.4(MRE11):c.*997A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GLikely benign
Select item 882657	NM_005591.4(MRE11):c.*974C>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 882658	NM_005591.4(MRE11):c.*973A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306468	NM_005591.4(MRE11):c.*910dup	MRE11	Duplication (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 882659	NM_005591.4(MRE11):c.*877A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306469	NM_005591.4(MRE11):c.*848A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 883431	NM_005591.4(MRE11):c.*760G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306470	NM_005591.4(MRE11):c.*741A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 883432	NM_005591.4(MRE11):c.*740G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 127022	NM_005591.4(MRE11):c.*685C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 883433	NM_005591.4(MRE11):c.*672G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306471	NM_005591.4(MRE11):c.*671C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306472	NM_005591.4(MRE11):c.*669C>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 2642296	NM_005591.4(MRE11):c.660_663dup	MRE11	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 306480	NM_005591.4(MRE11):c.*659CT[7]CCC[1]	MRE11	Insertion (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306479	NM_005591.4(MRE11):c.*659CT[6]CCC[1]	MRE11	Insertion (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306478	NM_005591.4(MRE11):c.*659CT[4]CCC[1]	MRE11	Insertion (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306477	NM_005591.4(MRE11):c.*630TC[20]	MRE11	Microsatellite (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306476	NM_005591.4(MRE11):c.*630TC[18]	MRE11	Microsatellite (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306475	NM_005591.4(MRE11):c.*630TC[17]	MRE11	Microsatellite (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306474	NM_005591.4(MRE11):c.*630TC[16]	MRE11	Microsatellite (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306473	NM_005591.4(MRE11):c.*660C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306481	NM_005591.4(MRE11):c.*630TC[14]	MRE11	Microsatellite (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 883434	NM_005591.4(MRE11):c.*658T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 127023	NM_005591.4(MRE11):c.*656T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 60642	NM_005591.4(MRE11):c.*631C>T	MRE11	Single nucleotide variant (3 prime UTR variant)	Malignant tumor of urinary bladder	Gother
Select item 306482	NM_005591.4(MRE11):c.*628G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GLikely benign
Select item 881079	NM_005591.4(MRE11):c.*593A>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 60641	NM_005591.4(MRE11):c.*570A>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306483	NM_005591.4(MRE11):c.*511G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GBenign
Select item 306484	NM_005591.4(MRE11):c.*447T>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306485	NM_005591.4(MRE11):c.*442A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GBenign
Select item 127024	NM_005591.4(MRE11):c.*431G>T	MRE11	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 881080	NM_005591.4(MRE11):c.*429A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306486	NM_005591.4(MRE11):c.*313G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 127025	NM_005591.4(MRE11):c.*214T>G	MRE11	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 881548	NM_005591.4(MRE11):c.*193T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 306487	NM_005591.4(MRE11):c.*189G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1	GLikely benign
Select item 306488	NM_005591.4(MRE11):c.*183G>A	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GBenign
Select item 534782	NC_000011.10:g.(?_94420119)_(94437241_?)del	MRE11	Deletion	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 479724	NM_005591.4(MRE11):c.*3T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586206	NM_005591.4(MRE11):c.2120_*2del (p.Arg707fs)	MRE11 (R707fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 479755	NM_005591.4(MRE11):c.*1T>C	MRE11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 479732	NM_005591.4(MRE11):c.2124A>G (p.Arg708=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1800222	NM_005591.4(MRE11):c.2122A>C (p.Arg708=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 232799	NM_005591.4(MRE11):c.2121A>G (p.Arg707=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 483619	NM_005591.4(MRE11):c.2119A>G (p.Arg707Gly)	MRE11 (R707G +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 647222	NM_005591.4(MRE11):c.2117A>G (p.Asn706Ser)	MRE11 (N678S +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder	GUncertain significance
Select item 187237	NM_005591.4(MRE11):c.2109_2117del (p.Leu703_Asn706delinsPhe)	MRE11	Deletion (inframe_indel)	Ataxia-telangiectasia-like disorder +1 more	GUncertain significance
Select item 183941	NM_005591.4(MRE11):c.2115A>G (p.Arg705=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +1 more	GLikely benign
Select item 479764	NM_005591.4(MRE11):c.2114G>T (p.Arg705Ile)	MRE11 (R705I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 219663	NM_005591.4(MRE11):c.2113A>G (p.Arg705Gly)	MRE11 (R705G +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +1 more	GUncertain significance
Select item 863608	NM_005591.4(MRE11):c.2109A>C (p.Leu703Phe)	MRE11 (L675F +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder	GUncertain significance
Select item 3224854	NM_005591.4(MRE11):c.2102G>A (p.Ser701Asn)	MRE11 (S673N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1800292	NM_005591.4(MRE11):c.2100T>G (p.Thr700=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +1 more	GLikely benign
Select item 820711	NM_005591.4(MRE11):c.2099C>T (p.Thr700Ile)	MRE11 (T700I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 230741	NM_005591.4(MRE11):c.2099C>G (p.Thr700Ser)	MRE11 (T700S +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance

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