C4012790[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar - NCBI

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Items: 15

	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)	Ataxia-telangiectasia-like disorder +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 221127	NM_005591.4(MRE11):c.1994+10G>A	MRE11	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 142511	NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)	MRE11 (E600Q +1 more)	Single nucleotide variant (intron variant +1 more)	Ataxia-telangiectasia-like disorder +5 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 +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 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 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 140846	NM_005591.4(MRE11):c.1032T>G (p.Leu344=)	MRE11	Single nucleotide variant (synonymous variant)	MRE11-related condition +6 more	GBenign
Select item 140946	NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)	MRE11 (S334R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +5 more	GBenign
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 182548	NM_005591.4(MRE11):c.771A>G (p.Glu257=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +6 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 259798	NM_005591.4(MRE11):c.20+28G>A	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign