ADAMTS3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	TMPRSS11F, UGT2A1 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 154915	GRCh38/hg38 4q13.3(chr4:71367496-72953379)x1	ADAMTS3, GC +8 more	Copy number loss	See cases	GUncertain significance
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 2516236	NM_014243.3(ADAMTS3):c.3587G>C (p.Arg1196Pro)	ADAMTS3 (R1196P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490439	NM_014243.3(ADAMTS3):c.3520G>A (p.Asp1174Asn)	ADAMTS3 (D1174N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234402	NM_014243.3(ADAMTS3):c.3469C>T (p.His1157Tyr)	ADAMTS3 (H1157Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077284	NM_014243.3(ADAMTS3):c.3457A>C (p.Thr1153Pro)	ADAMTS3 (T1153P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787029	NM_014243.3(ADAMTS3):c.3443C>T (p.Pro1148Leu)	ADAMTS3 (P1148L)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder +1 more	GBenign
Select item 3077280	NM_014243.3(ADAMTS3):c.3389G>A (p.Arg1130His)	ADAMTS3 (R1130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077277	NM_014243.3(ADAMTS3):c.3370C>T (p.Pro1124Ser)	ADAMTS3 (P1124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654804	NM_014243.3(ADAMTS3):c.3365G>A (p.Ser1122Asn)	ADAMTS3 (S1122N)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder +1 more	GLikely benign
Select item 2555041	NM_014243.3(ADAMTS3):c.3331G>A (p.Gly1111Ser)	ADAMTS3 (G1111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349413	NM_014243.3(ADAMTS3):c.3289C>T (p.Pro1097Ser)	ADAMTS3 (P1097S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2351773	NM_014243.3(ADAMTS3):c.3259A>G (p.Thr1087Ala)	ADAMTS3 (T1087A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716108	NM_014243.3(ADAMTS3):c.3220T>C (p.Ser1074Pro)	ADAMTS3 (S1074P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736238	NM_014243.3(ADAMTS3):c.3183C>T (p.Tyr1061=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3077271	NM_014243.3(ADAMTS3):c.3113C>T (p.Ser1038Phe)	ADAMTS3 (S1038F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064779	NM_014243.3(ADAMTS3):c.3104G>A (p.Arg1035Gln)	ADAMTS3 (R1035Q)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GUncertain significance
Select item 3077268	NM_014243.3(ADAMTS3):c.3094G>C (p.Val1032Leu)	ADAMTS3 (V1032L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077264	NM_014243.3(ADAMTS3):c.3076A>C (p.Ile1026Leu)	ADAMTS3 (I1026L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077262	NM_014243.3(ADAMTS3):c.3047A>G (p.Asn1016Ser)	ADAMTS3 (N1016S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077256	NM_014243.3(ADAMTS3):c.3017C>T (p.Ser1006Leu)	ADAMTS3 (S1006L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615116	NM_014243.3(ADAMTS3):c.2966G>A (p.Arg989Lys)	ADAMTS3 (R989K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224304	NM_014243.3(ADAMTS3):c.2948G>A (p.Gly983Asp)	ADAMTS3 (G983D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065425	NM_014243.3(ADAMTS3):c.2878C>T (p.Pro960Ser)	ADAMTS3 (P960S)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GUncertain significance
Select item 717678	NM_014243.3(ADAMTS3):c.2825A>G (p.Asn942Ser)	ADAMTS3 (N942S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2325051	NM_014243.3(ADAMTS3):c.2809C>G (p.Leu937Val)	ADAMTS3 (L937V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343865	NM_014243.3(ADAMTS3):c.2780A>G (p.Gln927Arg)	ADAMTS3 (Q927R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654805	NM_014243.3(ADAMTS3):c.2763T>C (p.Cys921=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077246	NM_014243.3(ADAMTS3):c.2716C>T (p.His906Tyr)	ADAMTS3 (H906Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492116	NM_014243.3(ADAMTS3):c.2695T>G (p.Cys899Gly)	ADAMTS3 (C899G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405010	NM_014243.3(ADAMTS3):c.2669A>G (p.Lys890Arg)	ADAMTS3 (K890R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524267	NM_014243.3(ADAMTS3):c.2667C>A (p.Asn889Lys)	ADAMTS3 (N889K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312937	NM_014243.3(ADAMTS3):c.2647C>T (p.Arg883Cys)	ADAMTS3 (R883C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049741	NM_014243.3(ADAMTS3):c.2617C>T (p.Arg873Cys)	ADAMTS3 (R873C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3077235	NM_014243.3(ADAMTS3):c.2573C>T (p.Ser858Phe)	ADAMTS3 (S858F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341866	NM_014243.3(ADAMTS3):c.2417T>C (p.Ile806Thr)	ADAMTS3 (I806T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031719	NM_014243.3(ADAMTS3):c.2391C>T (p.Thr797=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 2236093	NM_014243.3(ADAMTS3):c.2388C>A (p.His796Gln)	ADAMTS3 (H796Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509601	NM_014243.3(ADAMTS3):c.2363T>C (p.Ile788Thr)	ADAMTS3 (I788T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053627	NM_014243.3(ADAMTS3):c.2322G>A (p.Ser774=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 2654806	NM_014243.3(ADAMTS3):c.2322G>T (p.Ser774=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077224	NM_014243.3(ADAMTS3):c.2273A>G (p.Gln758Arg)	ADAMTS3 (Q758R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269287	NM_014243.3(ADAMTS3):c.2219A>T (p.His740Leu)	ADAMTS3 (H740L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1189005	NM_014243.3(ADAMTS3):c.2179+21G>A	ADAMTS3	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GBenign
Select item 2654807	NM_014243.3(ADAMTS3):c.2085T>C (p.Ser695=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057651	NM_014243.3(ADAMTS3):c.1977C>T (p.Tyr659=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 2547227	NM_014243.3(ADAMTS3):c.1906T>C (p.Tyr636His)	ADAMTS3 (Y636H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407920	NM_014243.3(ADAMTS3):c.1884T>A (p.Asn628Lys)	ADAMTS3 (N628K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263880	NM_014243.3(ADAMTS3):c.1876T>A (p.Tyr626Asn)	ADAMTS3 (Y626N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459482	NM_014243.3(ADAMTS3):c.1848G>T (p.Gln616His)	ADAMTS3 (Q616H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484239	NM_014243.3(ADAMTS3):c.1770T>G (p.Cys590Trp)	ADAMTS3 (C590W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770905	NM_014243.3(ADAMTS3):c.1754A>G (p.Asn585Ser)	ADAMTS3 (N585S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718073	NM_014243.3(ADAMTS3):c.1746-5T>G	ADAMTS3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2384290	NM_014243.3(ADAMTS3):c.1726C>T (p.Arg576Cys)	ADAMTS3 (R576C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654808	NM_014243.3(ADAMTS3):c.1694G>A (p.Arg565Gln)	ADAMTS3 (R565Q)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder +1 more	GLikely benign
Select item 3077197	NM_014243.3(ADAMTS3):c.1693C>T (p.Arg565Trp)	ADAMTS3 (R565W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054087	NM_014243.3(ADAMTS3):c.1677A>G (p.Lys559=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 3077187	NM_014243.3(ADAMTS3):c.1636A>G (p.Asn546Asp)	ADAMTS3 (N546D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672991	NM_014243.3(ADAMTS3):c.1599+7A>G	ADAMTS3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3038420	NM_014243.3(ADAMTS3):c.1537C>A (p.Pro513Thr)	ADAMTS3 (P513T)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder	GBenign
Select item 2369052	NM_014243.3(ADAMTS3):c.1528C>G (p.Pro510Ala)	ADAMTS3 (P510A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077172	NM_014243.3(ADAMTS3):c.1484C>T (p.Ala495Val)	ADAMTS3 (A495V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530750	NM_014243.3(ADAMTS3):c.1396C>G (p.Pro466Ala)	ADAMTS3 (P466A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029401	NM_014243.3(ADAMTS3):c.1379C>T (p.Pro460Leu)	ADAMTS3 (P460L)	Single nucleotide variant (missense variant)	ADAMTS3-related disorder	GUncertain significance
Select item 1711590	NM_014243.3(ADAMTS3):c.1347T>C (p.Tyr449=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2380136	NM_014243.3(ADAMTS3):c.1345T>G (p.Tyr449Asp)	ADAMTS3 (Y449D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532819	NM_014243.3(ADAMTS3):c.1304G>A (p.Arg435His)	ADAMTS3 (R435H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785095	NM_014243.3(ADAMTS3):c.1254G>A (p.Glu418=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2485716	NM_014243.3(ADAMTS3):c.1247G>C (p.Gly416Ala)	ADAMTS3 (G416A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295994	NM_014243.3(ADAMTS3):c.1246G>T (p.Gly416Cys)	ADAMTS3 (G416C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043969	NM_014243.3(ADAMTS3):c.1242G>A (p.Arg414=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 748886	NM_014243.3(ADAMTS3):c.1183G>A (p.Val395Ile)	ADAMTS3 (V395I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3077133	NM_014243.3(ADAMTS3):c.1171T>C (p.Ser391Pro)	ADAMTS3 (S391P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234218	NM_014243.3(ADAMTS3):c.1119C>T (p.Thr373=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312007	NM_014243.3(ADAMTS3):c.1111C>T (p.Pro371Ser)	ADAMTS3 (P371S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488928	NM_014243.3(ADAMTS3):c.1090G>A (p.Ala364Thr)	ADAMTS3 (A364T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654809	NM_014243.3(ADAMTS3):c.1071C>G (p.Thr357=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077108	NM_014243.3(ADAMTS3):c.1030C>G (p.Leu344Val)	ADAMTS3 (L344V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654810	NM_014243.3(ADAMTS3):c.1017G>A (p.Gln339=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder +1 more	GLikely benign
Select item 2654811	NM_014243.3(ADAMTS3):c.1008G>A (p.Ala336=)	ADAMTS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 586988	NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr)	ADAMTS3 (I291T)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GPathogenic
Select item 2654812	NM_014243.3(ADAMTS3):c.862-4C>T	ADAMTS3	Single nucleotide variant (intron variant)	ADAMTS3-related disorder +1 more	GBenign
Select item 2654813	NM_014243.3(ADAMTS3):c.862-5G>T	ADAMTS3	Single nucleotide variant (intron variant)	ADAMTS3-related disorder +1 more	GBenign
Select item 3056321	NM_014243.3(ADAMTS3):c.819C>A (p.Gly273=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GBenign
Select item 2367742	NM_014243.3(ADAMTS3):c.775G>A (p.Glu259Lys)	ADAMTS3 (E259K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252773	NM_014243.3(ADAMTS3):c.761A>G (p.Asn254Ser)	ADAMTS3 (N254S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303508	NM_014243.3(ADAMTS3):c.752C>T (p.Ala251Val)	ADAMTS3 (A251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286518	NM_014243.3(ADAMTS3):c.752C>A (p.Ala251Glu)	ADAMTS3 (A251E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077323	NM_014243.3(ADAMTS3):c.712C>G (p.His238Asp)	ADAMTS3 (H238D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3033688	NM_014243.3(ADAMTS3):c.690A>C (p.Leu230=)	ADAMTS3	Single nucleotide variant (synonymous variant)	ADAMTS3-related disorder	GLikely benign
Select item 2247527	NM_014243.3(ADAMTS3):c.679C>T (p.Leu227Phe)	ADAMTS3 (L227F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780467	NM_014243.3(ADAMTS3):c.661+7G>A	ADAMTS3	Single nucleotide variant (intron variant)	ADAMTS3-related disorder +2 more	GBenign/Likely benign
Select item 3077315	NM_014243.3(ADAMTS3):c.658A>G (p.Arg220Gly)	ADAMTS3 (R220G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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