"Counsyl"[submitter] AND "ERCC8-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550005	NM_000082.4(ERCC8):c.399+1G>A	ERCC8, ERCC8-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 554811	NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)	ERCC8, ERCC8-AS1 (I6fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 558687	NM_000082.4(ERCC8):c.313_314del (p.Val105fs)	ERCC8, ERCC8-AS1 (V105fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 430102	NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)	ERCC8, ERCC8-AS1 (R41fs +1 more)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 554190	NM_000082.4(ERCC8):c.276-2A>G	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic

ClinVar