C0268141[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882371	NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)	BIVM-ERCC5, ERCC5 (A98V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GUncertain significance
Select item 134180	NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys)	BIVM-ERCC5, ERCC5 (R214C +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +2 more	GBenign/Likely benign
Select item 134181	NM_000123.4(ERCC5):c.641G>A (p.Arg214His)	BIVM-ERCC5, ERCC5 (R214H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +2 more	GBenign/Likely benign
Select item 1335951	NM_000123.4(ERCC5):c.673-2A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1305806	NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser)	BIVM-ERCC5, ERCC5 (A347S +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +2 more	GUncertain significance
Select item 134189	NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu)	BIVM-ERCC5, ERCC5 (P524L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 134160	NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr)	ERCC5, LOC126861834 +1 more (A761T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 883462	NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp)	BIVM-ERCC5, ERCC5 +1 more (R819W +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GUncertain significance
Select item 310936	NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	BIVM-ERCC5, ERCC5 (V940M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 134166	NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu)	ERCC5, BIVM-ERCC5 (R1080Q +2 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +3 more	GBenign/Likely benign
Select item 997612	NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)	BIVM-ERCC5, ERCC5 (K1185T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +3 more	GUncertain significance