"Mendelics"[submitter] AND "FLG"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126848	NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)	CCDST, FLG (K4022*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429704	NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)	FLG, FLG-AS1 (R3657*)	Single nucleotide variant (nonsense)	Autosomal dominant ichthyosis vulgaris +2 more	GPathogenic
Select item 279933	NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	FLG, FLG-AS1 (S3316*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 50930	NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	FLG, FLG-AS1 (S3247*)	Single nucleotide variant (nonsense)	FLG-related disorders +4 more	GPathogenic/Likely pathogenic
Select item 817526	NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter)	CCDST, FLG (Q3029*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GPathogenic/Likely pathogenic
Select item 545968	NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter)	FLG, FLG-AS1 (S2706*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1027983	NM_002016.2(FLG):c.7945del (p.Ser2649fs)	FLG, FLG-AS1 (S2649fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16321	NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)	FLG, FLG-AS1 (S2554*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2 +1 more	GPathogenic/Likely pathogenic
Select item 50932	NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	CCDST, FLG (R2447*)	Single nucleotide variant (nonsense)	FLG-related disorders +3 more	GPathogenic/Likely pathogenic
Select item 265477	NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter)	FLG, FLG-AS1 (E2422*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 381660	NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter)	FLG, FLG-AS1 (Q2417*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GPathogenic
Select item 522001	NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)	FLG, FLG-AS1 (S2344*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 419605	NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)	FLG-AS1, FLG	Deletion (nonsense)	Dermatitis, atopic, 2 +2 more	GPathogenic/Likely pathogenic
Select item 280166	NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter)	CCDST, FLG (R2037*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 225363	NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter)	CCDST, FLG (S1906*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GConflicting classifications of pathogenicity
Select item 432814	NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs)	FLG, FLG-AS1 (S1595fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 559656	NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter)	FLG, FLG-AS1 (S1515*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GPathogenic
Select item 225362	NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter)	FLG, FLG-AS1 (S1302*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 420115	NM_002016.2(FLG):c.3321del (p.Gly1109fs)	FLG, FLG-AS1 (G1109fs)	Deletion (frameshift variant)	Ichthyosis vulgaris +1 more	GPathogenic
Select item 817045	NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs)	FLG, FLG-AS1 (S1074fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1685822	NM_002016.2(FLG):c.2976_2977del (p.Arg992fs)	FLG, FLG-AS1 (R992fs)	Microsatellite (frameshift variant)	Autosomal dominant ichthyosis vulgaris +1 more	GPathogenic
Select item 265156	NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	CCDST, FLG (R826*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2 +4 more	GConflicting classifications of pathogenicity
Select item 16320	NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	CCDST, FLG (S761fs)	Microsatellite (frameshift variant)	FLG-related disorders +5 more	GPathogenic/Likely pathogenic
Select item 16319	NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	CCDST, FLG (R501*)	Single nucleotide variant (nonsense)	FLG-related disorders +6 more	GPathogenic/Likely pathogenic

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Items: 24