"Sema4, Sema4"[submitter] AND "MRE11"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 186502	NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup)	MRE11	Microsatellite (inframe_insertion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1692903	NM_005591.4(MRE11):c.2079T>C (p.Asp693=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 142045	NM_005591.4(MRE11):c.2054A>G (p.Asp685Gly)	MRE11 (D685G +2 more)	Single nucleotide variant (missense variant)	MRE11-related disorder +2 more	GUncertain significance
Select item 186158	NM_005591.4(MRE11):c.2049G>A (p.Gly683=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +2 more	GLikely benign
Select item 481749	NM_005591.4(MRE11):c.2007A>G (p.Thr669=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +2 more	GLikely benign
Select item 142837	NM_005591.4(MRE11):c.1972A>G (p.Thr658Ala)	MRE11 (T658A +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GConflicting classifications of pathogenicity
Select item 1692902	NM_005591.4(MRE11):c.1960G>C (p.Asp654His)	MRE11 (D626H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127977	NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)	MRE11 (R604P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127976	NM_005591.4(MRE11):c.1811G>A (p.Arg604His)	MRE11 (R604H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 142511	NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)	MRE11 (E600Q +1 more)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia-like disorder 1 +5 more	GConflicting classifications of pathogenicity
Select item 220059	NM_005591.4(MRE11):c.1783+7A>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GConflicting classifications of pathogenicity
Select item 127975	NM_005591.4(MRE11):c.1783+5G>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder 1 +6 more	GConflicting classifications of pathogenicity
Select item 141544	NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly)	MRE11 (R594G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +4 more	GBenign/Likely benign
Select item 220076	NM_005591.4(MRE11):c.1736G>A (p.Gly579Glu)	MRE11 (G579E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127974	NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)	MRE11 (R576Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +9 more	GConflicting classifications of pathogenicity
Select item 186717	NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly)	MRE11 (R576G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 141057	NM_005591.4(MRE11):c.1718G>A (p.Gly573Glu)	MRE11 (G573E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142425	NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser)	MRE11 (N556S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +4 more	GConflicting classifications of pathogenicity
Select item 142542	NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)	MRE11 (I548T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1681571	NM_005591.4(MRE11):c.1564-15TCT[4]	MRE11	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 142153	NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)	MRE11 (R502C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +5 more	GConflicting classifications of pathogenicity
Select item 127030	NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)	MRE11 (E494K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127031	NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)	MRE11 (A492D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142344	NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)	MRE11 (V429A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +5 more	GConflicting classifications of pathogenicity
Select item 881122	NM_005591.4(MRE11):c.1244G>A (p.Gly415Glu)	MRE11 (G415E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141307	NM_005591.4(MRE11):c.1139G>A (p.Arg380His)	MRE11 (R380H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 184963	NM_005591.4(MRE11):c.1089A>G (p.Val363=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +1 more	GLikely benign
Select item 234072	NM_005591.4(MRE11):c.986C>A (p.Thr329Asn)	MRE11 (T329N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 182551	NM_005591.4(MRE11):c.969A>G (p.Pro323=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +4 more	GBenign/Likely benign
Select item 1692904	NM_005591.4(MRE11):c.846-7A>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder +1 more	GConflicting classifications of pathogenicity
Select item 182549	NM_005591.4(MRE11):c.822T>C (p.Leu274=)	MRE11	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 184487	NM_005591.4(MRE11):c.777G>A (p.Gln259=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder 1 +3 more	GConflicting classifications of pathogenicity
Select item 182548	NM_005591.4(MRE11):c.771A>G (p.Glu257=)	MRE11	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 185763	NM_005591.4(MRE11):c.534A>G (p.Leu178=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127983	NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)	MRE11 (A177T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 182547	NM_005591.4(MRE11):c.426C>T (p.Asp142=)	MRE11	Single nucleotide variant (synonymous variant)	MRE11-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 481742	NM_005591.4(MRE11):c.394C>T (p.Pro132Ser)	MRE11 (P132S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GUncertain significance
Select item 142063	NM_005591.4(MRE11):c.391G>A (p.Asp131Asn)	MRE11 (D131N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 215508	NM_005591.4(MRE11):c.315-5_315-4dup	MRE11	Duplication (intron variant)	Ataxia-telangiectasia-like disorder +1 more	GBenign/Likely benign
Select item 183762	NM_005591.4(MRE11):c.315-14dup	MRE11	Duplication (intron variant)	Ataxia-telangiectasia-like disorder +4 more	GBenign/Likely benign
Select item 140809	NM_005591.4(MRE11):c.315-4del	MRE11	Deletion (intron variant)	Ataxia-telangiectasia-like disorder +3 more	GBenign/Likely benign
Select item 127981	NM_005591.4(MRE11):c.311G>C (p.Ser104Thr)	MRE11 (S104T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 820093	NM_005591.4(MRE11):c.180T>C (p.Asp60=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 230065	NM_005591.4(MRE11):c.121G>C (p.Asp41His)	MRE11 (D41H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GUncertain significance
Select item 182552	NM_005591.4(MRE11):c.120C>T (p.Leu40=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder 1 +4 more	GConflicting classifications of pathogenicity
Select item 184731	NM_005591.4(MRE11):c.81G>A (p.Glu27=)	MRE11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 141225	NM_005591.4(MRE11):c.37T>A (p.Phe13Ile)	MRE11 (F13I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 479749	NM_005591.4(MRE11):c.33C>T (p.Asn11=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +1 more	GLikely benign

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Items: 48