"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "ERCC6"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549960	NM_000124.4(ERCC6):c.4063-1G>C	ERCC6	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 2585514	NM_000124.4(ERCC6):c.4025A>C (p.Gln1342Pro)	ERCC6 (Q1342P)	Single nucleotide variant (missense variant)	Premature ovarian failure 11	GUncertain significance
Select item 553383	NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)	ERCC6 (R857*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +3 more	GPathogenic
Select item 856377	NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter)	ERCC6 (G715*)	Single nucleotide variant (nonsense)	Cockayne syndrome +2 more	GPathogenic
Select item 435083	NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)	ERCC6 (W686*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551532	NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)	ERCC6 (R176*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +4 more	GPathogenic/Likely pathogenic

ClinVar