"Counsyl"[submitter] AND "MRE11"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129622	NM_005591.4(MRE11):c.2092A>G (p.Met698Val)	MRE11 (M698V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 223843	NM_005591.4(MRE11):c.2071-53G>T	MRE11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 372073	NM_005591.4(MRE11):c.2070+14A>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder +2 more	GConflicting classifications of pathogenicity
Select item 141995	NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu)	MRE11 (S681L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 221127	NM_005591.4(MRE11):c.1994+10G>A	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 481761	NM_005591.4(MRE11):c.1927-1G>T	MRE11	Single nucleotide variant (splice acceptor variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GLikely pathogenic
Select item 127976	NM_005591.4(MRE11):c.1811G>A (p.Arg604His)	MRE11 (R604H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 185426	NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys)	MRE11 (R525K)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 184438	NM_005591.4(MRE11):c.1491C>T (p.Ile497=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 548916	NM_005591.4(MRE11):c.1226-5T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GConflicting classifications of pathogenicity
Select item 193884	NM_005591.4(MRE11):c.1225+19T>C	MRE11	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 140776	NM_005591.4(MRE11):c.1098+17T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder +5 more	GBenign
Select item 140953	NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)	MRE11 (R364*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 140846	NM_005591.4(MRE11):c.1032T>G (p.Leu344=)	MRE11	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 140946	NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)	MRE11 (S334R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
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 182550	NM_005591.4(MRE11):c.845+11T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder +2 more	GBenign/Likely benign
Select item 182549	NM_005591.4(MRE11):c.822T>C (p.Leu274=)	MRE11	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 230014	NM_005591.4(MRE11):c.659+1G>A	MRE11	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia-like disorder 1 +3 more	GPathogenic/Likely pathogenic
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)	Ataxia-telangiectasia-like disorder 1 +5 more	GConflicting classifications of pathogenicity
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 220181	NM_005591.4(MRE11):c.314+6T>C	MRE11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 127970	NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)	MRE11 (D41N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign

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Items: 27