"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ERCC3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1361081	NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys)	ERCC3 (E633K +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 2, photosensitive +2 more	GUncertain significance
Select item 870690	NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)	ERCC3 (E588fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1070632	NM_000122.2(ERCC3):c.1757del (p.Gln586fs)	ERCC3 (Q522fs +1 more)	Deletion (frameshift variant)	Trichothiodystrophy 2, photosensitive +3 more	GPathogenic/Likely pathogenic
Select item 1548549	NM_000122.2(ERCC3):c.1730+16T>G	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B +2 more	GBenign/Likely benign
Select item 1405507	NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)	ERCC3 (R574* +1 more)	Single nucleotide variant (nonsense)	Trichothiodystrophy 2, photosensitive +2 more	GPathogenic/Likely pathogenic
Select item 134130	NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)	ERCC3 (D474fs +1 more)	Duplication (frameshift variant)	Xeroderma pigmentosum group B +3 more	GPathogenic/Likely pathogenic
Select item 1394743	NM_000122.2(ERCC3):c.1348A>G (p.Met450Val)	ERCC3 (M450V +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 2, photosensitive +3 more	GUncertain significance
Select item 1319556	NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)	ERCC3 (Q324* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1335950	NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)	ERCC3 (W310* +1 more)	Duplication (nonsense)	Trichothiodystrophy 2, photosensitive +3 more	GPathogenic/Likely pathogenic
Select item 134128	NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)	ERCC3 (R283C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 265515	NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	ERCC3 (R109* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum +3 more	GPathogenic/Likely pathogenic
Select item 893901	NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp)	ERCC3 (E48D)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group B +3 more	GUncertain significance
Select item 847501	NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg)	ERCC3 (K11R)	Single nucleotide variant (missense variant +1 more)	Trichothiodystrophy 2, photosensitive +2 more	GUncertain significance
Select item 369309	NM_000122.2(ERCC3):c.-98A>G	ERCC3	Single nucleotide variant	Xeroderma pigmentosum group B +3 more	GBenign/Likely benign