C0268140[trait identifier] AND "St. Jude Molecular Pathology, St. Jude - ClinVar

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Items: 22

	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)	Xeroderma pigmentosum, group F +7 more	GUncertain significance
Select item 1710944	NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu)	ERCC4 (Q65L)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 134145	NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)	ERCC4 (Y71H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +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 2444877	NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp)	ERCC4 (G159D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 2444871	NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg)	ERCC4 (G321R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 1431747	NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys)	ERCC4 (Y423C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1037862	NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser)	ERCC4 (A446S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 2073298	NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)	ERCC4 (E456K)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 1315619	NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala)	ERCC4 (V498A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2503514	NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met)	ERCC4 (I554M)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 317815	NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)	ERCC4 (G559D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 134158	NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	ERCC4 (R576T)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +7 more	GConflicting classifications of pathogenicity
Select item 317816	NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)	ERCC4 (R576S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 2074753	NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)	ERCC4 (V588I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +4 more	GUncertain significance
Select item 2077533	NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)	ERCC4 (V588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1710962	NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys)	ERCC4 (R598K)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +1 more	GUncertain significance
Select item 134142	NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	ERCC4 (I706T)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +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)	ERCC4-related condition +8 more	GConflicting classifications of pathogenicity
Select item 1710946	NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)	ERCC4 (T827K)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1710936	NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe)	ERCC4 (S865F)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F	GUncertain significance
Select item 579347	NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)	ERCC4 (N893D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +6 more	GUncertain significance

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Items: 22