"GeneDx"[submitter] AND "CCDST"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1264550	NM_001009931.3(HRNR):c.2396G>C (p.Ser799Thr)	CCDST, HRNR (S799T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1249194	NM_001009931.3(HRNR):c.2226C>T (p.His742=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1282269	NM_002016.2(FLG):c.*179C>T	CCDST, FLG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1211343	NM_002016.2(FLG):c.12090G>A (p.Thr4030=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1186886	NM_002016.2(FLG):c.12089C>A (p.Thr4030Lys)	CCDST, FLG (T4030K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 126848	NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)	CCDST, FLG (K4022*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +2 more	GConflicting classifications of pathogenicity
Select item 1231239	NM_002016.2(FLG):c.11909C>T (p.Ser3970Leu)	CCDST, FLG (S3970L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 424374	NM_002016.2(FLG):c.11851dup (p.His3951fs)	CCDST, FLG (H3951fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1258538	NM_002016.2(FLG):c.11803T>C (p.Ser3935Pro)	CCDST, FLG (S3935P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 429362	NM_002016.2(FLG):c.11635C>T (p.Arg3879Ter)	CCDST, FLG (R3879*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1281065	NM_002016.2(FLG):c.11485C>T (p.Arg3829Cys)	CCDST, FLG (R3829C)	Single nucleotide variant (missense variant)	not provided	GBenign
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 280591	NM_002016.2(FLG):c.11246C>G (p.Ser3749Ter)	CCDST, FLG (S3749*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1218937	NM_002016.2(FLG):c.11080G>C (p.Glu3694Gln)	CCDST, FLG (E3694Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3252147	NM_002016.2(FLG):c.11033_11036del (p.Ser3678fs)	CCDST, FLG (S3678fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 429704	NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)	CCDST, FLG (R3657*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +2 more	GPathogenic
Select item 1205917	NM_002016.2(FLG):c.10925T>C (p.Ile3642Thr)	CCDST, FLG (I3642T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1246453	NM_002016.2(FLG):c.10903G>A (p.Asp3635Asn)	CCDST, FLG (D3635N)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1203221	NM_002016.2(FLG):c.10807G>A (p.Ala3603Thr)	CCDST, FLG (A3603T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1274774	NM_002016.2(FLG):c.10779G>C (p.Glu3593Asp)	CCDST, FLG (E3593D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1274484	NM_002016.2(FLG):c.10764C>T (p.His3588=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1225072	NM_002016.2(FLG):c.10736C>G (p.Thr3579Arg)	CCDST, FLG (T3579R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1263466	NM_002016.2(FLG):c.10703A>G (p.Gln3568Arg)	CCDST, FLG (Q3568R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1263753	NM_002016.2(FLG):c.10691G>A (p.Arg3564His)	CCDST, FLG (R3564H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1247942	NM_002016.2(FLG):c.10691G>T (p.Arg3564Leu)	CCDST, FLG (R3564L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1189356	NM_002016.2(FLG):c.10670G>C (p.Gly3557Ala)	CCDST, FLG (G3557A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1265104	NM_002016.2(FLG):c.10663T>C (p.Trp3555Arg)	CCDST, FLG (W3555R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1237029	NM_002016.2(FLG):c.10590G>T (p.Arg3530Ser)	CCDST, FLG (R3530S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1231010	NM_002016.2(FLG):c.10491T>C (p.Asp3497=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1272130	NM_002016.2(FLG):c.10473T>C (p.Asn3491=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 806213	NM_002016.2(FLG):c.10285G>T (p.Glu3429Ter)	CCDST, FLG (E3429*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1290442	NM_002016.2(FLG):c.10278G>A (p.Ala3426=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 870787	NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter)	CCDST, FLG (R3419*)	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 1187342	NM_002016.2(FLG):c.10123C>T (p.Arg3375Trp)	CCDST, FLG (R3375W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1227442	NM_002016.2(FLG):c.10055C>G (p.Thr3352Arg)	CCDST, FLG (T3352R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1302748	NM_002016.2(FLG):c.9966A>G (p.Gln3322=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 817211	NM_002016.2(FLG):c.9815_9818del (p.Arg3272fs)	CCDST, FLG (R3272fs)	Deletion (frameshift variant)	Ichthyosis vulgaris +1 more	GPathogenic
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 1246798	NM_002016.2(FLG):c.9645G>T (p.Val3215=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1174667	NM_002016.2(FLG):c.9540A>G (p.Ser3180=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1326583	NM_002016.2(FLG):c.9539C>A (p.Ser3180Ter)	CCDST, FLG (S3180*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1175078	NM_002016.2(FLG):c.9536T>G (p.Val3179Gly)	CCDST, FLG (V3179G)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 681084	NM_002016.2(FLG):c.9520A>G (p.Ser3174Gly)	CCDST, FLG (S3174G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1233699	NM_002016.2(FLG):c.9315C>T (p.Tyr3105=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1243522	NM_002016.2(FLG):c.9313T>G (p.Tyr3105Asp)	CCDST, FLG (Y3105D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1269475	NM_002016.2(FLG):c.9262G>A (p.Gly3088Arg)	CCDST, FLG (G3088R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1206704	NM_002016.2(FLG):c.9151C>T (p.Arg3051Trp)	CCDST, FLG (R3051W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1289912	NM_002016.2(FLG):c.9125A>G (p.Gln3042Arg)	CCDST, FLG (Q3042R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1246028	NM_002016.2(FLG):c.9117C>G (p.Ser3039=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242771	NM_002016.2(FLG):c.9115T>C (p.Ser3039Pro)	CCDST, FLG (S3039P)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2506823	NM_002016.2(FLG):c.9042_9060dup (p.Gly3021delinsSerGlyGlnTer)	CCDST, FLG	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 1207438	NM_002016.2(FLG):c.9025C>T (p.Arg3009Ter)	CCDST, FLG (R3009*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1216733	NM_002016.2(FLG):c.8948A>T (p.Gln2983Leu)	CCDST, FLG (Q2983L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1175150	NM_002016.2(FLG):c.8928A>C (p.Glu2976Asp)	CCDST, FLG (E2976D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 489350	NM_002016.2(FLG):c.8911A>T (p.Arg2971Ter)	CCDST, FLG (R2971*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1205931	NM_002016.2(FLG):c.8878G>A (p.Gly2960Ser)	CCDST, FLG (G2960S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1242222	NM_002016.2(FLG):c.8807A>G (p.Asp2936Gly)	CCDST, FLG (D2936G)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1254977	NM_002016.2(FLG):c.8768T>G (p.Leu2923Arg)	CCDST, FLG (L2923R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1290060	NM_002016.2(FLG):c.8750G>T (p.Gly2917Val)	CCDST, FLG (G2917V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1318601	NM_002016.2(FLG):c.8721G>A (p.Trp2907Ter)	CCDST, FLG (W2907*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1208942	NM_002016.2(FLG):c.8692G>C (p.Glu2898Gln)	CCDST, FLG (E2898Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1222401	NM_002016.2(FLG):c.8673G>T (p.Val2891=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1193152	NM_002016.2(FLG):c.8597A>T (p.Asp2866Val)	CCDST, FLG (D2866V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1260709	NM_002016.2(FLG):c.8548G>A (p.Gly2850Ser)	CCDST, FLG (G2850S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1207416	NM_002016.2(FLG):c.8529T>C (p.Asn2843=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1246169	NM_002016.2(FLG):c.8506A>C (p.Ser2836Arg)	CCDST, FLG (S2836R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 1178454	NM_002016.2(FLG):c.8343C>T (p.Asp2781=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1199462	NM_002016.2(FLG):c.8304G>T (p.Glu2768Asp)	CCDST, FLG (E2768D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1186350	NM_002016.2(FLG):c.8297G>A (p.Arg2766His)	CCDST, FLG (R2766H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3364562	NM_002016.2(FLG):c.8262G>A (p.Trp2754Ter)	CCDST, FLG (W2754*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1205192	NM_002016.2(FLG):c.8179C>T (p.Arg2727Trp)	CCDST, FLG (R2727W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 545968	NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter)	CCDST, FLG (S2706*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GPathogenic
Select item 817521	NM_002016.2(FLG):c.8053C>T (p.Arg2685Ter)	CCDST, FLG (R2685*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1178678	NM_002016.2(FLG):c.7992C>G (p.Ser2664Arg)	CCDST, FLG (S2664R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1229680	NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp)	CCDST, FLG (E2652D)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1208428	NM_002016.2(FLG):c.7873C>A (p.Gln2625Lys)	CCDST, FLG (Q2625K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1218880	NM_002016.2(FLG):c.7848T>C (p.His2616=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1201192	NM_002016.2(FLG):c.7720C>G (p.Gln2574Glu)	CCDST, FLG (Q2574E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3370557	NM_002016.2(FLG):c.7686del (p.Trp2563fs)	CCDST, FLG (W2563fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1211767	NM_002016.2(FLG):c.7676C>A (p.Thr2559Lys)	CCDST, FLG (T2559K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1302747	NM_002016.2(FLG):c.7633G>A (p.Gly2545Arg)	CCDST, FLG (G2545R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1207910	NM_002016.2(FLG):c.7575C>T (p.Asp2525=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1302746	NM_002016.2(FLG):c.7521C>G (p.His2507Gln)	CCDST, FLG (H2507Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 280218	NM_002016.2(FLG):c.7487del (p.Thr2496fs)	CCDST, FLG (T2496fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1302745	NM_002016.2(FLG):c.7442T>C (p.Leu2481Ser)	CCDST, FLG (L2481S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1265210	NM_002016.2(FLG):c.7398G>A (p.Pro2466=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1194040	NM_002016.2(FLG):c.7387C>G (p.His2463Asp)	CCDST, FLG (H2463D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 1222131	NM_002016.2(FLG):c.7330A>G (p.Lys2444Glu)	CCDST, FLG (K2444E)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 265476	NM_002016.2(FLG):c.7267_7268del (p.Gln2423fs)	CCDST, FLG (Q2423fs)	Deletion (frameshift variant)	Ichthyosis vulgaris +1 more	GPathogenic/Likely pathogenic

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