C0220722[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210336	NM_000124.4(ERCC6):c.3778+1G>A	ERCC6	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 1	GLikely pathogenic
Select item 129015	NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	Macular degeneration +8 more	GBenign
Select item 1226200	NM_000124.4(ERCC6):c.2382+33T>C	ERCC6	Single nucleotide variant (intron variant)	Cockayne syndrome type 2 +4 more	GBenign
Select item 255163	NM_000124.4(ERCC6):c.1992+32A>G	ERCC6	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 190153	NM_000124.4(ERCC6):c.1821+7C>T	ERCC6	Single nucleotide variant (intron variant)	not specified +8 more	GBenign
Select item 129013	NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)	ERCC6, PGBD3 (G399D)	Single nucleotide variant (missense variant +1 more)	Macular degeneration +8 more	GBenign/Likely benign
Select item 129019	NM_000124.4(ERCC6):c.411G>A (p.Leu137=)	ERCC6	Single nucleotide variant (synonymous variant)	Macular degeneration +8 more	GBenign
Select item 129014	NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	ERCC6	Single nucleotide variant (synonymous variant)	Macular degeneration +8 more	GBenign

ClinVar