CN239385[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632137	NM_000124.4(ERCC6):c.4350dup (p.Leu1451fs)	ERCC6 (L1451fs)	Duplication (frameshift variant)	ERCC6-Related Disorders	GUncertain significance
Select item 632138	NM_000124.4(ERCC6):c.3850del (p.Ala1284fs)	ERCC6 (A1284fs)	Deletion (frameshift variant)	ERCC6-Related Disorders	GUncertain significance
Select item 1701	NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	ERCC6 (R735*)	Single nucleotide variant (nonsense)	Age related macular degeneration 5 +8 more	GPathogenic
Select item 190160	NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	ERCC6 (Q723*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +10 more	GPathogenic/Likely pathogenic
Select item 1711	NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	ERCC6 (R683*)	Single nucleotide variant (nonsense)	Premature ovarian failure 11 +8 more	GPathogenic/Likely pathogenic
Select item 300081	NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs)	ERCC6 (K478fs)	Insertion (frameshift variant)	ERCC6-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 631636	NM_000124.4(ERCC6):c.262C>T (p.Gln88Ter)	ERCC6, ERCC6-PGBD3 (Q88*)	Single nucleotide variant (nonsense)	ERCC6-Related Disorders	GUncertain significance

ClinVar