"ITMI"[submitter] AND "ERCC4"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134131	NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)	ERCC4, LOC130058543 (P6S)	Single nucleotide variant (missense variant)	Cockayne syndrome +7 more	GUncertain significance
Select item 134132	NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)	ERCC4, LOC130058543 (L27F)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance
Select item 134133	NM_005236.3(ERCC4):c.176T>A (p.Val59Glu)	ERCC4, LOC130058543 (V59E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134145	NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)	ERCC4 (Y71H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 134143	NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)	ERCC4 (I73V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance
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 134146	NM_005236.3(ERCC4):c.938T>C (p.Leu313Pro)	ERCC4 (L313P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134147	NM_005236.3(ERCC4):c.988G>C (p.Asp330His)	ERCC4 (D330H)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134148	NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	ERCC4 (P379S)	Single nucleotide variant (missense variant)	Cockayne syndrome +7 more	GConflicting classifications of pathogenicity
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 134152	NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	ERCC4 (P472L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GConflicting classifications of pathogenicity
Select item 134149	NM_005236.3(ERCC4):c.1447A>G (p.Arg483Gly)	ERCC4 (R483G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 134156	NM_005236.3(ERCC4):c.1523G>A (p.Gly508Glu)	ERCC4 (G508E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134153	NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	ERCC4 (S521R)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 134157	NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)	ERCC4 (V536L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GLikely benign
Select item 134151	NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val)	ERCC4 (I553V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 134154	NM_005236.3(ERCC4):c.1711C>T (p.His571Tyr)	ERCC4 (H571Y)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134158	NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	ERCC4 (R576T)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
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 135534	NM_005236.3(ERCC4):c.2017+1G>A	ERCC4	Single nucleotide variant (splice donor variant)	not specified	Gnot provided
Select item 134142	NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	ERCC4 (I706T)	Single nucleotide variant (missense variant)	Cockayne syndrome +8 more	GConflicting classifications of pathogenicity
Select item 16580	NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	ERCC4 (R799W)	Single nucleotide variant (missense variant)	Cockayne syndrome +8 more	GConflicting classifications of pathogenicity
Select item 134136	NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val)	ERCC4 (A826V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
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 134139	NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys)	ERCC4 (R864C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 134140	NM_005236.3(ERCC4):c.2608G>A (p.Val870Ile)	ERCC4 (V870I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 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

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Items: 31