"ERCC4-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474204	NM_005236.3(ERCC4):c.228G>A (p.Leu76=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3057407	NM_005236.3(ERCC4):c.384T>C (p.Ile128=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder	GLikely benign
Select item 838117	NM_005236.3(ERCC4):c.389-9C>A	ERCC4	Single nucleotide variant (intron variant)	ERCC4-related disorder +3 more	GLikely benign
Select item 3058819	NM_005236.3(ERCC4):c.426T>A (p.Ser142=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder	GLikely benign
Select item 240126	NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)	ERCC4 (A168G)	Single nucleotide variant (missense variant)	Cockayne syndrome +3 more	GConflicting classifications of pathogenicity
Select item 474201	NM_005236.3(ERCC4):c.1123C>T (p.Leu375=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder +3 more	GLikely benign
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 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 3031863	NM_005236.3(ERCC4):c.1578G>A (p.Pro526=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder	GLikely benign
Select item 1635402	NM_005236.3(ERCC4):c.1632C>T (p.Phe544=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +4 more	GLikely benign
Select item 3031288	NM_005236.3(ERCC4):c.1638C>T (p.Ile546=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder	GLikely benign
Select item 55829	NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)	ERCC4 (R589W)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +6 more	GPathogenic/Likely pathogenic
Select item 541252	NM_005236.3(ERCC4):c.1812-5T>C	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +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 3061456	NM_005236.3(ERCC4):c.1890T>C (p.Phe630=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder	GLikely benign
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 1008644	NM_005236.3(ERCC4):c.2430G>A (p.Ala810=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder +3 more	GLikely benign
Select item 240123	NM_005236.3(ERCC4):c.2463A>G (p.Pro821=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +3 more	GBenign
Select item 884980	NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 697490	NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)	ERCC4 (E883K)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +6 more	GBenign/Likely benign

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Items: 21