"National Health Laboratory Service, Universitas Academic Hospital and - ClinVar

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Items: 35

	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 1678908	NM_005591.4(MRE11):c.2071-23A>G	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678909	NM_005591.4(MRE11):c.1994+43T>C	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678910	NM_005591.4(MRE11):c.1994+26G>T	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
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 857036	NM_005591.4(MRE11):c.1948G>C (p.Asp650His)	MRE11 (D649H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1232762	NM_005591.4(MRE11):c.1868-85_1868-84del	MRE11	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
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 127975	NM_005591.4(MRE11):c.1783+5G>C	MRE11	Single nucleotide variant (intron variant)	not specified +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 +4 more	GBenign/Likely benign
Select item 1678913	NM_005591.4(MRE11):c.1614T>C (p.Ser538=)	MRE11	Single nucleotide variant (synonymous 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)	Hereditary breast ovarian cancer syndrome +5 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 230881	NM_005591.4(MRE11):c.1413G>A (p.Glu471=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 223845	NM_005591.4(MRE11):c.1326+93G>T	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1206983	NM_005591.4(MRE11):c.1225+27A>G	MRE11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1250380	NM_005591.4(MRE11):c.1225+23G>T	MRE11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 193884	NM_005591.4(MRE11):c.1225+19T>C	MRE11	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1227451	NM_005591.4(MRE11):c.1099-26G>C	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1678915	NM_005591.4(MRE11):c.1098+40A>G	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
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 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 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 1213592	NM_005591.4(MRE11):c.659+30C>G	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1268039	NM_005591.4(MRE11):c.545-44C>T	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 129623	NM_005591.4(MRE11):c.403-6G>A	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder +4 more	GBenign
Select item 1678916	NM_005591.4(MRE11):c.402+46A>G	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1213347	NM_005591.4(MRE11):c.315-30G>A	MRE11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1193279	NM_005591.4(MRE11):c.315-34G>T	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 479713	NM_005591.4(MRE11):c.256G>A (p.Asp86Asn)	MRE11 (D86N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1678918	NM_005591.4(MRE11):c.154-33A>G	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
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
Select item 1678919	NM_005591.4(MRE11):c.21-14_21-12del	MRE11	Microsatellite (intron variant)	Ataxia-telangiectasia-like disorder +1 more	GLikely benign
Select item 259798	NM_005591.4(MRE11):c.20+28G>A	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign

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Items: 35