C0268140[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 240125	NM_005236.3(ERCC4):c.33C>T (p.Ala11=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 259683	NM_005236.3(ERCC4):c.207+11G>A	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +5 more	GBenign
Select item 134144	NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)	ERCC4 (V81F)	Single nucleotide variant (missense variant)	Cockayne syndrome +5 more	GBenign/Likely benign
Select item 240124	NM_005236.3(ERCC4):c.252C>T (p.Leu84=)	ERCC4	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 415024	NM_005236.3(ERCC4):c.389-5C>T	ERCC4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 259686	NM_005236.3(ERCC4):c.974-7G>A	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +5 more	GBenign
Select item 134155	NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)	ERCC4 (R415Q)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GBenign/Likely benign
Select item 415025	NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)	ERCC4	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 134150	NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	ERCC4 (Q496H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +5 more	GConflicting classifications of pathogenicity
Select item 317817	NM_005236.3(ERCC4):c.1884A>G (p.Glu628=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder +3 more	GBenign
Select item 134134	NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)	ERCC4 (S662P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GBenign
Select item 129007	NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +5 more	GBenign
Select item 134137	NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	ERCC4 (Q849E)	Single nucleotide variant (missense variant)	Ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 134138	NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	ERCC4 (A860D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +5 more	GConflicting classifications of pathogenicity
Select item 134135	NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)	ERCC4 (I873V)	Single nucleotide variant (missense variant)	Cockayne syndrome +5 more	GBenign/Likely benign
Select item 129008	NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)	ERCC4 (E875G)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 259684	NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)	ERCC4	Single nucleotide variant (synonymous variant)	XFE progeroid syndrome +5 more	GBenign/Likely benign
Select item 134141	NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)	ERCC4 (G912R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GConflicting classifications of pathogenicity