"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 18

	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 300037	NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)	ERCC6 (E1408A)	Single nucleotide variant (missense variant)	ERCC6-related condition +6 more	GConflicting classifications of pathogenicity
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 300049	NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +3 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)	ERCC6-related condition +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)	COFS syndrome +4 more	GConflicting classifications of pathogenicity
Select item 502165	NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)	ERCC6, LOC126860933 (R947*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 129015	NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	Cockayne syndrome +8 more	GBenign
Select item 1701	NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	ERCC6 (R735*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
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 300075	NM_000124.4(ERCC6):c.1992+7C>T	ERCC6	Single nucleotide variant (intron variant)	Cerebrooculofacioskeletal syndrome 1 +3 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 129013	NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)	ERCC6, PGBD3 (G399D)	Single nucleotide variant (missense variant +1 more)	COFS syndrome +8 more	GBenign/Likely benign
Select item 300087	NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)	ERCC6, PGBD3 (D386E)	Single nucleotide variant (missense variant +1 more)	ERCC6-related condition +5 more	GConflicting classifications of pathogenicity
Select item 196213	NM_000124.4(ERCC6):c.528A>G (p.Arg176=)	ERCC6	Single nucleotide variant (synonymous variant)	COFS syndrome +4 more	GBenign
Select item 129019	NM_000124.4(ERCC6):c.411G>A (p.Leu137=)	ERCC6	Single nucleotide variant (synonymous variant)	Cockayne syndrome +8 more	GBenign
Select item 129014	NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	ERCC6	Single nucleotide variant (synonymous variant)	COFS syndrome +8 more	GBenign