"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129020	NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)	ERCC6 (Q1413R)	Single nucleotide variant (missense variant)	Cockayne syndrome +4 more	GBenign
Select item 129017	NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)	ERCC6 (R1213G)	Single nucleotide variant (missense variant)	COFS syndrome +4 more	GBenign/Likely benign
Select item 129016	NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)	ERCC6 (M1097V)	Single nucleotide variant (missense variant)	COFS syndrome +4 more	GBenign/Likely benign
Select item 194695	NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)	ERCC6 (I1021V)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +4 more	GConflicting classifications of pathogenicity
Select item 194590	NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)	ERCC6, LOC126860933 (R975Q)	Single nucleotide variant (missense variant)	Macular degeneration +4 more	GConflicting classifications of pathogenicity
Select item 190156	NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)	ERCC6 (R666C)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 190153	NM_000124.4(ERCC6):c.1821+7C>T	ERCC6	Single nucleotide variant (intron variant)	COFS syndrome +8 more	GBenign
Select item 235642	NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)	ERCC6, PGBD3 (G446D)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome +4 more	GBenign/Likely benign
Select item 129014	NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	ERCC6	Single nucleotide variant (synonymous variant)	COFS syndrome +8 more	GBenign