2312[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 154029	GRCh38/hg38 1q21.3(chr1:152267710-152436835)x1	CRNN, FLG +2 more	Copy number loss	See cases	GUncertain significance
Select item 1282269	NM_002016.2(FLG):c.*179C>T	FLG, FLG-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2639219	NM_002016.2(FLG):c.12145C>T (p.Leu4049=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602591	NM_002016.2(FLG):c.12128G>A (p.Ser4043Asn)	FLG, FLG-AS1 (S4043N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1211343	NM_002016.2(FLG):c.12090G>A (p.Thr4030=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related condition +1 more	GBenign/Likely benign
Select item 1186886	NM_002016.2(FLG):c.12089C>A (p.Thr4030Lys)	FLG-AS1, FLG (T4030K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2527343	NM_002016.2(FLG):c.12068A>T (p.Asp4023Val)	FLG, FLG-AS1 (D4023V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2639220	NM_002016.2(FLG):c.12057G>A (p.Ala4019=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related condition +1 more	GLikely benign
Select item 2342265	NM_002016.2(FLG):c.11989G>C (p.Gly3997Arg)	FLG, FLG-AS1 (G3997R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500672	NM_002016.2(FLG):c.11952T>A (p.Tyr3984Ter)	FLG, FLG-AS1 (Y3984*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2358391	NM_002016.2(FLG):c.11941A>G (p.Ser3981Gly)	CCDST, FLG (S3981G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1231239	NM_002016.2(FLG):c.11909C>T (p.Ser3970Leu)	FLG, FLG-AS1 (S3970L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639221	NM_002016.2(FLG):c.11880T>C (p.Ser3960=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 424374	NM_002016.2(FLG):c.11851dup (p.His3951fs)	FLG, FLG-AS1 (H3951fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2253092	NM_002016.2(FLG):c.11839C>A (p.Arg3947Ser)	FLG, FLG-AS1 (R3947S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519064	NM_002016.2(FLG):c.11827G>A (p.Gly3943Arg)	FLG, FLG-AS1 (G3943R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1258538	NM_002016.2(FLG):c.11803T>C (p.Ser3935Pro)	FLG, FLG-AS1 (S3935P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2223168	NM_002016.2(FLG):c.11723A>G (p.Asp3908Gly)	FLG, FLG-AS1 (D3908G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570515	NM_002016.2(FLG):c.11720G>A (p.Arg3907His)	FLG, FLG-AS1 (R3907H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2325637	NM_002016.2(FLG):c.11714C>T (p.Ser3905Phe)	FLG, FLG-AS1 (S3905F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1205962	NM_002016.2(FLG):c.11674C>T (p.Arg3892Trp)	CCDST, FLG (R3892W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2254158	NM_002016.2(FLG):c.11636G>A (p.Arg3879Gln)	FLG, FLG-AS1 (R3879Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 429362	NM_002016.2(FLG):c.11635C>T (p.Arg3879Ter)	FLG, FLG-AS1 (R3879*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 620101	NM_002016.2(FLG):c.11575C>T (p.Gln3859Ter)	FLG, FLG-AS1 (Q3859*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 190986	NM_002016.2(FLG):c.11573G>A (p.Arg3858His)	FLG, FLG-AS1 (R3858H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358903	NM_002016.2(FLG):c.11567G>A (p.Ser3856Asn)	FLG, FLG-AS1 (S3856N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570519	NM_002016.2(FLG):c.11554G>A (p.Gly3852Arg)	FLG, FLG-AS1 (G3852R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582860	NM_002016.2(FLG):c.11552C>T (p.Ala3851Val)	CCDST, FLG (A3851V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1033886	NM_002016.2(FLG):c.11539C>T (p.Gln3847Ter)	FLG, FLG-AS1 (Q3847*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GUncertain significance
Select item 2593750	NM_002016.2(FLG):c.11537G>A (p.Gly3846Asp)	FLG, FLG-AS1 (G3846D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373097	NM_002016.2(FLG):c.11528C>G (p.Ser3843Ter)	FLG, FLG-AS1 (S3843*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2639222	NM_002016.2(FLG):c.11494G>A (p.Glu3832Lys)	CCDST, FLG (E3832K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206088	NM_002016.2(FLG):c.11486G>A (p.Arg3829His)	CCDST, FLG (R3829H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1281065	NM_002016.2(FLG):c.11485C>T (p.Arg3829Cys)	FLG, FLG-AS1 (R3829C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1694522	NM_002016.2(FLG):c.11479G>T (p.Gly3827Trp)	CCDST, FLG (G3827W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2498414	NM_002016.2(FLG):c.11464G>A (p.Gly3822Ser)	CCDST, FLG (G3822S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280571	NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter)	FLG, FLG-AS1 (Q3818*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2345496	NM_002016.2(FLG):c.11440C>T (p.Arg3814Cys)	CCDST, FLG (R3814C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2639223	NM_002016.2(FLG):c.11439A>C (p.Thr3813=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341645	NM_002016.2(FLG):c.11402A>C (p.His3801Pro)	FLG, FLG-AS1 (H3801P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639224	NM_002016.2(FLG):c.11340G>A (p.Arg3780=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393729	NM_002016.2(FLG):c.11317T>C (p.Tyr3773His)	CCDST, FLG (Y3773H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3025045	NM_002016.2(FLG):c.11312G>T (p.Gly3771Val)	CCDST, FLG (G3771V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2393728	NM_002016.2(FLG):c.11299G>A (p.Gly3767Arg)	FLG, FLG-AS1 (G3767R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639225	NM_002016.2(FLG):c.11289G>A (p.Gly3763=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393705	NM_002016.2(FLG):c.11259G>T (p.Glu3753Asp)	FLG, FLG-AS1 (E3753D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471903	NM_002016.2(FLG):c.11249C>T (p.Ala3750Val)	FLG, FLG-AS1 (A3750V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294794	NM_002016.2(FLG):c.11248G>A (p.Ala3750Thr)	FLG, FLG-AS1 (A3750T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 280591	NM_002016.2(FLG):c.11246C>G (p.Ser3749Ter)	FLG, FLG-AS1 (S3749*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1320913	NM_002016.2(FLG):c.11227C>T (p.Arg3743Ter)	FLG, FLG-AS1 (R3743*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2585644	NM_002016.2(FLG):c.11213G>A (p.Arg3738His)	FLG, FLG-AS1 (R3738H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 2568730	NM_002016.2(FLG):c.11212C>T (p.Arg3738Cys)	FLG, FLG-AS1 (R3738C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406856	NM_002016.2(FLG):c.11198G>T (p.Gly3733Val)	CCDST, FLG (G3733V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2393727	NM_002016.2(FLG):c.11197G>C (p.Gly3733Arg)	FLG, FLG-AS1 (G3733R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639226	NM_002016.2(FLG):c.11190T>C (p.Ser3730=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532730	NM_002016.2(FLG):c.11177G>C (p.Arg3726Pro)	FLG, FLG-AS1 (R3726P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255238	NM_002016.2(FLG):c.11162A>G (p.Glu3721Gly)	FLG, FLG-AS1 (E3721G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265418	NM_002016.2(FLG):c.11101G>A (p.Ala3701Thr)	FLG, FLG-AS1 (A3701T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508951	NM_002016.2(FLG):c.11090G>A (p.Arg3697His)	FLG, FLG-AS1 (R3697H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1218937	NM_002016.2(FLG):c.11080G>C (p.Glu3694Gln)	FLG, FLG-AS1 (E3694Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639227	NM_002016.2(FLG):c.11073C>T (p.Ser3691=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639228	NM_002016.2(FLG):c.11064T>C (p.His3688=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354641	NM_002016.2(FLG):c.11057G>C (p.Gly3686Ala)	FLG, FLG-AS1 (G3686A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299511	NM_002016.2(FLG):c.11048del (p.Gly3683fs)	FLG, FLG-AS1 (G3683fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 2383858	NM_002016.2(FLG):c.11047G>A (p.Gly3683Arg)	FLG, FLG-AS1 (G3683R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639229	NM_002016.2(FLG):c.11046C>T (p.His3682=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546117	NM_002016.2(FLG):c.11042C>T (p.Ala3681Val)	FLG, FLG-AS1 (A3681V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393725	NM_002016.2(FLG):c.11042C>G (p.Ala3681Gly)	FLG, FLG-AS1 (A3681G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 817300	NM_002016.2(FLG):c.11035del (p.Val3679fs)	FLG, FLG-AS1 (V3679fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2240015	NM_002016.2(FLG):c.11024A>C (p.Asp3675Ala)	FLG, FLG-AS1 (D3675A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393724	NM_002016.2(FLG):c.11019C>G (p.Asp3673Glu)	FLG, FLG-AS1 (D3673E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245614	NM_002016.2(FLG):c.10996G>A (p.Asp3666Asn)	FLG, FLG-AS1 (D3666N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1206244	NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr)	FLG, FLG-AS1 (S3662T)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +2 more	GBenign/Likely benign
Select item 3024959	NM_002016.2(FLG):c.10976C>A (p.Ser3659Tyr)	CCDST, FLG (S3659Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2662953	NM_002016.2(FLG):c.10919_10926del (p.Ser3640fs)	FLG, FLG-AS1 (S3640fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1709406	NM_002016.2(FLG):c.10926del (p.Ile3642fs)	FLG, FLG-AS1 (I3642fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 1205917	NM_002016.2(FLG):c.10925T>C (p.Ile3642Thr)	FLG, FLG-AS1 (I3642T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2344668	NM_002016.2(FLG):c.10907G>C (p.Ser3636Thr)	FLG, FLG-AS1 (S3636T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1246453	NM_002016.2(FLG):c.10903G>A (p.Asp3635Asn)	FLG, FLG-AS1 (D3635N)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 2492496	NM_002016.2(FLG):c.10890C>G (p.His3630Gln)	FLG, FLG-AS1 (H3630Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290961	NM_002016.2(FLG):c.10886A>G (p.His3629Arg)	FLG, FLG-AS1 (H3629R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2378485	NM_002016.2(FLG):c.10872G>C (p.Glu3624Asp)	FLG, FLG-AS1 (E3624D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2366777	NM_002016.2(FLG):c.10817C>T (p.Ser3606Phe)	CCDST, FLG (S3606F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2402096	NM_002016.2(FLG):c.10811A>G (p.Glu3604Gly)	FLG, FLG-AS1 (E3604G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1203221	NM_002016.2(FLG):c.10807G>A (p.Ala3603Thr)	FLG, FLG-AS1 (A3603T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1274774	NM_002016.2(FLG):c.10779G>C (p.Glu3593Asp)	FLG, FLG-AS1 (E3593D)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 2463324	NM_002016.2(FLG):c.10769A>T (p.His3590Leu)	FLG, FLG-AS1 (H3590L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1274484	NM_002016.2(FLG):c.10764C>T (p.His3588=)	FLG, FLG-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2639230	NM_002016.2(FLG):c.10758C>T (p.Ala3586=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1049020	NM_002016.2(FLG):c.10747G>A (p.Glu3583Lys)	FLG, FLG-AS1 (E3583K)	Single nucleotide variant (missense variant)	Autosomal dominant ichthyosis vulgaris	GUncertain significance
Select item 1191386	NM_002016.2(FLG):c.10746C>A (p.His3582Gln)	FLG, FLG-AS1 (H3582Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2227747	NM_002016.2(FLG):c.10738T>C (p.Ser3580Pro)	FLG, FLG-AS1 (S3580P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639231	NM_002016.2(FLG):c.10737G>A (p.Thr3579=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1225072	NM_002016.2(FLG):c.10736C>G (p.Thr3579Arg)	FLG, FLG-AS1 (T3579R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1251648	NM_002016.2(FLG):c.10735A>G (p.Thr3579Ala)	FLG, FLG-AS1 (T3579A)	Single nucleotide variant (missense variant)	not provided	GBenign

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