"Baylor Genetics"[submitter] AND "CCDST"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280571	NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter)	CCDST, FLG (Q3818*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 265475	NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter)	CCDST, FLG (R3409*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 279933	NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	CCDST, FLG (S3316*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 225360	NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter)	CCDST, FLG (S3296*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GPathogenic
Select item 1027985	NM_002016.2(FLG):c.8671G>T (p.Val2891Leu)	CCDST, FLG (V2891L)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GUncertain significance
Select item 1027984	NM_002016.2(FLG):c.8497G>T (p.Gly2833Ter)	CCDST, FLG (G2833*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1027983	NM_002016.2(FLG):c.7945del (p.Ser2649fs)	CCDST, FLG (S2649fs)	Deletion (frameshift variant)	Ichthyosis vulgaris +1 more	GPathogenic/Likely pathogenic
Select item 546021	NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)	CCDST, FLG (R2613*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +2 more	GPathogenic/Likely pathogenic
Select item 1027982	NM_002016.2(FLG):c.7459C>A (p.His2487Asn)	CCDST, FLG (H2487N)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GUncertain significance
Select item 50932	NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	CCDST, FLG (R2447*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +4 more	GPathogenic/Likely pathogenic
Select item 1032025	NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter)	CCDST, FLG (Q1790*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 374307	NM_002016.2(FLG):c.4279G>A (p.Ala1427Thr)	CCDST, FLG (A1427T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 50931	NM_002016.2(FLG):c.3702del (p.Ser1235fs)	CCDST, FLG (S1235fs)	Deletion (frameshift variant)	Ichthyosis vulgaris +1 more	GPathogenic
Select item 420115	NM_002016.2(FLG):c.3321del (p.Gly1109fs)	CCDST, FLG (G1109fs)	Deletion (frameshift variant)	Ichthyosis vulgaris +2 more	GPathogenic
Select item 3237545	NM_002016.2(FLG):c.3037del (p.Ser1013fs)	CCDST, FLG (S1013fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 16320	NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	CCDST, FLG (S761fs)	Microsatellite (frameshift variant)	Ichthyosis vulgaris +5 more	GPathogenic/Likely pathogenic
Select item 16319	NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	CCDST, FLG (R501*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +5 more	GPathogenic/Likely pathogenic
Select item 280469	NM_002016.2(FLG):c.94G>T (p.Glu32Ter)	CCDST, FLG (E32*)	Single nucleotide variant (nonsense)	FLG-related disorder +2 more	GPathogenic/Likely pathogenic