Acacia simplex - ClinVar - NCBI

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The following term was not found in ClinVar: Acacia.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21474	NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GPathogenic/Likely pathogenic
Select item 870372	NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	ADPRS (K213fs)	Deletion (frameshift variant)	Abdominal distention +8 more	GUncertain significance
Select item 3352	NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)	PRPF3 (T494M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 870249	NM_001009931.3(HRNR):c.3041A>G (p.His1014Arg)	CCDST, HRNR (H1014R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1033886	NM_002016.2(FLG):c.11539C>T (p.Gln3847Ter)	FLG, FLG-AS1 (Q3847*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GUncertain significance
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 2585644	NM_002016.2(FLG):c.11213G>A (p.Arg3738His)	FLG, FLG-AS1 (R3738H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 1299511	NM_002016.2(FLG):c.11048del (p.Gly3683fs)	FLG, FLG-AS1 (G3683fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
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 1709406	NM_002016.2(FLG):c.10926del (p.Ile3642fs)	CCDST, FLG (I3642fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
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 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 930358	NM_002016.2(FLG):c.10670G>A (p.Gly3557Glu)	FLG, FLG-AS1 (G3557E)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GUncertain significance
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 996656	NM_002016.2(FLG):c.10459A>T (p.Arg3487Ter)	FLG, FLG-AS1 (R3487*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GLikely pathogenic
Select item 1803973	NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)	CCDST, FLG (Y3450*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GLikely pathogenic
Select item 265157	NM_002016.2(FLG):c.10324A>T (p.Arg3442Ter)	FLG-AS1, FLG (R3442*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GConflicting classifications of pathogenicity
Select item 2585645	NM_002016.2(FLG):c.10307G>C (p.Gly3436Ala)	FLG, FLG-AS1 (G3436A)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	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 2585646	NM_002016.2(FLG):c.10194T>C (p.Ser3398=)	FLG-AS1, FLG	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris	GBenign
Select item 1325606	NM_002016.2(FLG):c.10054A>G (p.Thr3352Ala)	FLG, FLG-AS1 (T3352A)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GUncertain significance
Select item 1324414	NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs)	CCDST, FLG (D3351fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 2585647	NM_002016.2(FLG):c.10017G>A (p.Gln3339=)	FLG, FLG-AS1	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris	GBenign
Select item 523447	NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys)	FLG, FLG-AS1 (S3338C)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +4 more	GUncertain significance
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)	Dermatitis, atopic, 2 +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 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 694498	NM_002016.2(FLG):c.9658G>C (p.Asp3220His)	CCDST, FLG (D3220H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
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 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 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 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 638422	NM_002016.2(FLG):c.8885del (p.Gln2962fs)	FLG, FLG-AS1 (Q2962fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
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 1222401	NM_002016.2(FLG):c.8673G>T (p.Val2891=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 545968	NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter)	CCDST, FLG (S2706*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GPathogenic
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 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 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 2347964	NM_002016.2(FLG):c.7634G>T (p.Gly2545Val)	FLG, FLG-AS1 (G2545V)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +2 more	GUncertain significance
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 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 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 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 50932	NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	CCDST, FLG (R2447*)	Single nucleotide variant (nonsense)	FLG-related disorder +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 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 1239802	NM_002016.2(FLG):c.7192G>C (p.Glu2398Gln)	CCDST, FLG (E2398Q)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 225361	NM_002016.2(FLG):c.7189C>T (p.Gln2397Ter)	FLG, FLG-AS1 (Q2397*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GPathogenic
Select item 1265666	NM_002016.2(FLG):c.7097G>C (p.Ser2366Thr)	CCDST, FLG (S2366T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 522001	NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)	CCDST, FLG (S2344*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2585648	NM_002016.2(FLG):c.7015G>A (p.Asp2339Asn)	FLG, FLG-AS1 (D2339N)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 1179883	NM_002016.2(FLG):c.6990C>T (p.His2330=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1213639	NM_002016.2(FLG):c.6652G>A (p.Asp2218Asn)	CCDST, FLG (D2218N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1244740	NM_002016.2(FLG):c.6580T>C (p.Tyr2194His)	CCDST, FLG (Y2194H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1223320	NM_002016.2(FLG):c.6498T>C (p.Ser2166=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1174419	NM_002016.2(FLG):c.6462A>C (p.Gln2154His)	CCDST, FLG (Q2154H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1221916	NM_002016.2(FLG):c.6355T>C (p.Tyr2119His)	CCDST, FLG (Y2119H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1179898	NM_002016.2(FLG):c.6354T>C (p.His2118=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1179724	NM_002016.2(FLG):c.6323C>T (p.Ala2108Val)	CCDST, FLG (A2108V)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 225060	NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)	CCDST, FLG (S2080*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1266034	NM_002016.2(FLG):c.6134G>C (p.Ser2045Thr)	CCDST, FLG (S2045T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 1263645	NM_002016.2(FLG):c.6072T>C (p.His2024=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1266162	NM_002016.2(FLG):c.6058T>G (p.Ser2020Ala)	CCDST, FLG (S2020A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 587579	NM_002016.2(FLG):c.6032_6034del (p.Leu2011del)	FLG, FLG-AS1 (L2011del)	Deletion (inframe_deletion)	Ichthyosis vulgaris	GUncertain significance
Select item 1324411	NM_002016.2(FLG):c.6014_6015del (p.His2005fs)	CCDST, FLG (H2005fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 1278608	NM_002016.2(FLG):c.5883C>A (p.His1961Gln)	CCDST, FLG (H1961Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1270895	NM_002016.2(FLG):c.5839T>G (p.Trp1947Gly)	CCDST, FLG (W1947G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1205946	NM_002016.2(FLG):c.5828T>A (p.Leu1943His)	CCDST, FLG (L1943H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
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 1247656	NM_002016.2(FLG):c.5672G>A (p.Arg1891Gln)	CCDST, FLG (R1891Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 982674	NM_002016.2(FLG):c.5476G>T (p.Gly1826Ter)	FLG, FLG-AS1 (G1826*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GUncertain significance
Select item 1248526	NM_002016.2(FLG):c.5414C>T (p.Ala1805Val)	CCDST, FLG (A1805V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 1228379	NM_002016.2(FLG):c.5198C>G (p.Ser1733Ter)	CCDST, FLG (S1733*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GPathogenic
Select item 2585649	NM_002016.2(FLG):c.5095C>T (p.Arg1699Cys)	FLG-AS1, FLG (R1699C)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 3235868	NM_002016.2(FLG):c.5050_5051delinsA (p.Arg1684fs)	CCDST, FLG (R1684fs)	Indel (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 2585650	NM_002016.2(FLG):c.5051G>A (p.Arg1684His)	FLG, FLG-AS1 (R1684H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 2581070	NM_002016.2(FLG):c.5014C>T (p.Gln1672Ter)	FLG, FLG-AS1 (Q1672*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris	GLikely pathogenic
Select item 1032024	NM_002016.2(FLG):c.4966C>T (p.Arg1656Cys)	FLG, FLG-AS1 (R1656C)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GUncertain significance
Select item 1334604	NM_002016.2(FLG):c.4925_4928del (p.Ser1642fs)	FLG, FLG-AS1 (S1642fs)	Deletion (frameshift variant)	Ichthyosis vulgaris	GLikely pathogenic
Select item 817794	NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs)	CCDST, FLG (E1605fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 432814	NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs)	CCDST, FLG (S1595fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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