"Revvity Omics, Revvity"[submitter] AND "ERCC8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 702384	NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)	ERCC8 (A161P +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 551068	NM_000082.4(ERCC8):c.618-1G>A	ERCC8	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2440094	NM_000082.4(ERCC8):c.427del (p.Thr143fs)	ERCC8 (T143fs +1 more)	Deletion (frameshift variant +1 more)	Cockayne syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 371025	NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)	ERCC8, ERCC8-AS1 (Y100* +1 more)	Single nucleotide variant (nonsense +1 more)	UV-sensitive syndrome 2 +3 more	GPathogenic
Select item 554440	NM_000082.4(ERCC8):c.173+1G>A	ERCC8	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1074993	NM_000082.3(ERCC8):c.78_79del	ERCC8	Microsatellite	not provided	GPathogenic/Likely pathogenic
Select item 1716	NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)	ERCC8, NDUFAF2 (E13*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome +3 more	GPathogenic/Likely pathogenic

ClinVar