"3billion"[submitter] AND "ERCC6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496904	NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)	ERCC6, LOC126860933 (P934T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1705731	NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)	ERCC6 (K849fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1333221	NM_000124.4(ERCC6):c.2336del (p.Phe779fs)	ERCC6 (F779fs)	Deletion (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic
Select item 1333599	NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)	ERCC6 (I738L)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 430298	NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	ERCC6 (R612*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 1320117	NM_000124.4(ERCC6):c.1684A>T (p.Arg562Trp)	ERCC6 (R562W)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1	GLikely pathogenic
Select item 1705392	NM_000124.4(ERCC6):c.542dup (p.Glu182fs)	ERCC6 (E182fs)	Duplication (frameshift variant)	Cockayne syndrome type 2	GLikely pathogenic

ClinVar