ClinVar for MedGen (Select 340100) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383114	NM_002016.2(FLG):c.9347C>G (p.Ser3116Ter)	CCDST, FLG (S3116*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GUncertain significance
Select item 3382638	NM_002016.2(FLG):c.5198_5201del (p.Ser1733fs)	CCDST, FLG (S1733fs)	Microsatellite (frameshift variant)	Dermatitis, atopic, 2 +1 more	GLikely pathogenic
Select item 3382123	NM_002016.2(FLG):c.511G>T (p.Glu171Ter)	CCDST, FLG (E171*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2 +1 more	GLikely pathogenic
Select item 3376676	NM_002016.2(FLG):c.1217C>G (p.Ser406Ter)	CCDST, FLG (S406*)	Single nucleotide variant (nonsense +1 more)	Dermatitis, atopic, 2 +1 more	GPathogenic/Likely pathogenic
Select item 3065422	NM_002016.2(FLG):c.11684C>T (p.Ser3895Leu)	CCDST, FLG (S3895L)	Single nucleotide variant (missense variant)	Dermatitis, atopic, 2	GUncertain significance
Select item 3064690	NM_002016.2(FLG):c.7663G>T (p.Glu2555Ter)	CCDST, FLG (E2555*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2	GUncertain significance
Select item 3064494	NM_002016.2(FLG):c.4676C>A (p.Ser1559Ter)	CCDST, FLG (S1559*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2	GLikely pathogenic
Select item 2580821	NM_002016.2(FLG):c.7564C>T (p.Gln2522Ter)	CCDST, FLG (Q2522*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2 +1 more	GPathogenic
Select item 2431931	NM_002016.2(FLG):c.6395A>G (p.Gln2132Arg)	FLG, FLG-AS1 (Q2132R)	Single nucleotide variant (missense variant)	Dermatitis, atopic, 2	GUncertain significance
Select item 2431483	NM_002016.2(FLG):c.7777G>T (p.Gly2593Ter)	FLG, FLG-AS1 (G2593*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2	GLikely pathogenic
Select item 1723739	NM_002016.2(FLG):c.6834_6838del (p.Ser2279fs)	CCDST, FLG (S2279fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1705697	NM_002016.2(FLG):c.9901A>T (p.Arg3301Ter)	FLG, FLG-AS1 (R3301*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2	GLikely pathogenic
Select item 1322922	NM_002016.2(FLG):c.138+1G>C	CCDST, FLG	Single nucleotide variant (splice donor variant)	Dermatitis, atopic, 2 +1 more	GPathogenic/Likely pathogenic
Select item 1297580	NM_002016.2(FLG):c.2067T>C (p.Ser689=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1206244	NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr)	CCDST, FLG (S3662T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1033883	NM_002016.2(FLG):c.10849C>T (p.Gln3617Ter)	FLG, FLG-AS1 (Q3617*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2	GLikely pathogenic
Select item 1032025	NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter)	CCDST, FLG (Q1790*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1027983	NM_002016.2(FLG):c.7945del (p.Ser2649fs)	CCDST, FLG (S2649fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 817045	NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs)	CCDST, FLG (S1074fs)	Deletion (frameshift variant)	Ichthyosis vulgaris +2 more	GPathogenic/Likely pathogenic
Select item 547860	NM_002016.1(FLG):c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln)	FLG, FLG-AS1	Indel	Dermatitis, atopic, 2 +1 more	GUncertain significance
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 545968	NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter)	CCDST, FLG (S2706*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +2 more	GPathogenic
Select item 523875	NM_002016.2(FLG):c.487G>T (p.Gly163Ter)	CCDST, FLG (G163*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +2 more	GPathogenic
Select item 522879	NM_002016.2(FLG):c.5170G>T (p.Gly1724Ter)	FLG, FLG-AS1 (G1724*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2	GPathogenic
Select item 522001	NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)	CCDST, FLG (S2344*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +3 more	GPathogenic/Likely pathogenic
Select item 504216	NM_002016.2(FLG):c.477dup (p.Glu160fs)	CCDST, FLG (E160fs)	Duplication (frameshift variant)	Dermatitis, atopic, 2 +2 more	GPathogenic/Likely pathogenic
Select item 450522	NM_002016.2(FLG):c.2362C>T (p.Arg788Ter)	CCDST, FLG (R788*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 445660	NM_002016.2(FLG):c.7801G>A (p.Asp2601Asn)	FLG, FLG-AS1 (D2601N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 429703	NM_002016.2(FLG):c.1248dup (p.Ser417fs)	CCDST, FLG (S417fs)	Duplication (frameshift variant +1 more)	Ichthyosis vulgaris +2 more	GPathogenic
Select item 420115	NM_002016.2(FLG):c.3321del (p.Gly1109fs)	CCDST, FLG (G1109fs)	Deletion (frameshift variant)	Ichthyosis vulgaris +3 more	GPathogenic
Select item 419605	NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)	CCDST, FLG	Deletion (nonsense)	Dermatitis, atopic, 2 +2 more	GPathogenic/Likely pathogenic
Select item 419550	NM_002016.2(FLG):c.557dup (p.Asn186fs)	CCDST, FLG (N186fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 381660	NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter)	CCDST, FLG (Q2417*)	Single nucleotide variant (nonsense)	Dermatitis, atopic, 2 +2 more	GPathogenic
Select item 280718	NM_002016.2(FLG):c.2218C>T (p.Arg740Ter)	FLG-AS1, FLG (R740*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +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 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 265156	NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	CCDST, FLG (R826*)	Single nucleotide variant (nonsense)	FLG-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 126848	NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)	CCDST, FLG (K4022*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 50932	NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	CCDST, FLG (R2447*)	Single nucleotide variant (nonsense)	Dermatitis, atopic +4 more	GPathogenic/Likely pathogenic
Select item 50930	NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	CCDST, FLG (S3247*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +4 more	GPathogenic/Likely pathogenic
Select item 16321	NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)	CCDST, FLG (S2554*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 16320	NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	CCDST, FLG (S761fs)	Microsatellite (frameshift variant)	Autosomal dominant 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)	Atopic eczema +5 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 43