"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134160	NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr)	BIVM-ERCC5, ERCC5 +1 more (A761T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 522358	NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)	BIVM-ERCC5, ERCC5 +1 more (Q785* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group G	GLikely pathogenic