"Ambry Genetics"[submitter] AND "ADAMTS17"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1395053	NM_139057.4(ADAMTS17):c.3251A>G (p.Tyr1084Cys)	ADAMTS17 (Y1084C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3266941	NM_139057.4(ADAMTS17):c.3221A>C (p.Gln1074Pro)	ADAMTS17 (Q1074P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1348384	NM_139057.4(ADAMTS17):c.3212G>A (p.Arg1071Gln)	ADAMTS17 (R1071Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2377694	NM_139057.4(ADAMTS17):c.3211C>T (p.Arg1071Trp)	ADAMTS17 (R1071W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2273045	NM_139057.4(ADAMTS17):c.3205G>C (p.Asp1069His)	ADAMTS17 (D1069H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1467180	NM_139057.4(ADAMTS17):c.3203A>C (p.Gln1068Pro)	ADAMTS17 (Q1068P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2033380	NM_139057.4(ADAMTS17):c.3185G>A (p.Arg1062Gln)	ADAMTS17 (R1062Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2288707	NM_139057.4(ADAMTS17):c.3118C>T (p.Pro1040Ser)	ADAMTS17 (P1040S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550660	NM_139057.4(ADAMTS17):c.3113C>T (p.Thr1038Ile)	ADAMTS17 (T1038I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1432239	NM_139057.4(ADAMTS17):c.3100G>A (p.Ala1034Thr)	ADAMTS17 (A1034T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2467190	NM_139057.4(ADAMTS17):c.3089A>G (p.Asp1030Gly)	ADAMTS17 (D1030G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266939	NM_139057.4(ADAMTS17):c.3025A>C (p.Ser1009Arg)	ADAMTS17 (S1009R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283124	NM_139057.4(ADAMTS17):c.3016C>T (p.Arg1006Cys)	ADAMTS17 (R1006C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544743	NM_139057.4(ADAMTS17):c.2993A>G (p.Gln998Arg)	ADAMTS17 (Q998R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905641	NM_139057.4(ADAMTS17):c.2957C>T (p.Ser986Leu)	ADAMTS17 (S986L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082861	NM_139057.4(ADAMTS17):c.2954C>T (p.Ser985Leu)	ADAMTS17 (S985L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884551	NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met)	ADAMTS17 (T983M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1963312	NM_139057.4(ADAMTS17):c.2840C>A (p.Ala947Glu)	ADAMTS17 (A947E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2068274	NM_139057.4(ADAMTS17):c.2836G>A (p.Val946Met)	ADAMTS17 (V946M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3266937	NM_139057.4(ADAMTS17):c.2813G>A (p.Gly938Asp)	ADAMTS17 (G938D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147788	NM_139057.4(ADAMTS17):c.2782T>A (p.Ser928Thr)	ADAMTS17 (S928T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286734	NM_139057.4(ADAMTS17):c.2753G>A (p.Gly918Asp)	ADAMTS17 (G918D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1377768	NM_139057.4(ADAMTS17):c.2735C>T (p.Ala912Val)	ADAMTS17 (A912V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147773	NM_139057.4(ADAMTS17):c.2726G>C (p.Arg909Pro)	ADAMTS17 (R909P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500425	NM_139057.4(ADAMTS17):c.2701C>G (p.Arg901Gly)	ADAMTS17 (R901G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1402178	NM_139057.4(ADAMTS17):c.2701C>T (p.Arg901Trp)	ADAMTS17 (R901W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2280858	NM_139057.4(ADAMTS17):c.2669A>T (p.Tyr890Phe)	ADAMTS17 (Y890F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1922633	NM_139057.4(ADAMTS17):c.2624C>G (p.Ala875Gly)	ADAMTS17 (A875G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497882	NM_139057.4(ADAMTS17):c.2501C>G (p.Thr834Ser)	ADAMTS17 (T834S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147748	NM_139057.4(ADAMTS17):c.2497A>G (p.Lys833Glu)	ADAMTS17 (K833E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2081016	NM_139057.4(ADAMTS17):c.2471T>C (p.Ile824Thr)	ADAMTS17 (I824T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2393620	NM_139057.4(ADAMTS17):c.2402T>C (p.Leu801Ser)	ADAMTS17 (L801S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546664	NM_139057.4(ADAMTS17):c.2371C>A (p.Gln791Lys)	ADAMTS17 (Q791K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527487	NM_139057.4(ADAMTS17):c.2365G>A (p.Glu789Lys)	ADAMTS17 (E789K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1372069	NM_139057.4(ADAMTS17):c.2356C>T (p.Arg786Cys)	ADAMTS17 (R786C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354079	NM_139057.4(ADAMTS17):c.2350G>A (p.Val784Ile)	ADAMTS17 (V784I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147716	NM_139057.4(ADAMTS17):c.2292G>C (p.Leu764Phe)	ADAMTS17 (L764F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1397761	NM_139057.4(ADAMTS17):c.2287C>A (p.His763Asn)	ADAMTS17 (H763N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2087761	NM_139057.4(ADAMTS17):c.2218A>G (p.Thr740Ala)	ADAMTS17 (T740A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2492410	NM_139057.4(ADAMTS17):c.2216C>T (p.Thr739Ile)	ADAMTS17 (T739I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358344	NM_139057.4(ADAMTS17):c.2153G>A (p.Gly718Asp)	ADAMTS17 (G718D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262667	NM_139057.4(ADAMTS17):c.2086G>A (p.Gly696Ser)	ADAMTS17 (G696S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1450920	NM_139057.4(ADAMTS17):c.2080G>A (p.Gly694Arg)	ADAMTS17 (G694R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1446306	NM_139057.4(ADAMTS17):c.2047G>A (p.Ala683Thr)	ADAMTS17 (A683T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 827968	NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His)	ADAMTS17 (D650H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3147701	NM_139057.4(ADAMTS17):c.1933C>T (p.Pro645Ser)	ADAMTS17 (P645S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533004	NM_139057.4(ADAMTS17):c.1889A>G (p.Asp630Gly)	ADAMTS17 (D630G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1521340	NM_139057.4(ADAMTS17):c.1877T>C (p.Val626Ala)	ADAMTS17 (V626A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1576582	NM_139057.4(ADAMTS17):c.1841G>C (p.Arg614Pro)	ADAMTS17 (R614P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1961611	NM_139057.4(ADAMTS17):c.1828C>G (p.Gln610Glu)	ADAMTS17 (Q610E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 315283	NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser)	ADAMTS17 (P602S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446117	NM_139057.4(ADAMTS17):c.1777G>A (p.Glu593Lys)	ADAMTS17 (E593K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2167965	NM_139057.4(ADAMTS17):c.1769C>T (p.Ala590Val)	ADAMTS17 (A590V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 315285	NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser)	ADAMTS17, LOC130058037 (P574S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1516699	NM_139057.4(ADAMTS17):c.1685G>T (p.Gly562Val)	ADAMTS17, LOC130058037 (G562V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3147686	NM_139057.4(ADAMTS17):c.1655G>C (p.Trp552Ser)	ADAMTS17 (W552S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1506684	NM_139057.4(ADAMTS17):c.1597G>A (p.Val533Met)	ADAMTS17 (V533M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2404827	NM_139057.4(ADAMTS17):c.1586C>T (p.Ala529Val)	ADAMTS17 (A529V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266938	NM_139057.4(ADAMTS17):c.1504G>A (p.Val502Ile)	ADAMTS17 (V502I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2121614	NM_139057.4(ADAMTS17):c.1482G>A (p.Met494Ile)	ADAMTS17 (M494I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1442514	NM_139057.4(ADAMTS17):c.1474C>T (p.His492Tyr)	ADAMTS17 (H492Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1366888	NM_139057.4(ADAMTS17):c.1420G>A (p.Glu474Lys)	ADAMTS17 (E474K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2083017	NM_139057.4(ADAMTS17):c.1379G>A (p.Arg460His)	ADAMTS17 (R460H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1931272	NM_139057.4(ADAMTS17):c.1306C>T (p.Leu436Phe)	ADAMTS17 (L436F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 315298	NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro)	ADAMTS17 (S430P)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive +2 more	GConflicting classifications of pathogenicity
Select item 2618944	NM_139057.4(ADAMTS17):c.1275C>G (p.Asp425Glu)	ADAMTS17 (D425E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886638	NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly)	ADAMTS17 (A407G)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive +2 more	GUncertain significance
Select item 2606917	NM_139057.4(ADAMTS17):c.1201G>A (p.Asp401Asn)	ADAMTS17 (D401N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 315301	NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser)	ADAMTS17 (N382S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2955195	NM_139057.4(ADAMTS17):c.1136A>T (p.Asn379Ile)	ADAMTS17 (N379I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2336292	NM_139057.4(ADAMTS17):c.1102A>G (p.Ser368Gly)	ADAMTS17 (S368G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147861	NM_139057.4(ADAMTS17):c.956G>A (p.Arg319Gln)	ADAMTS17 (R319Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557750	NM_139057.4(ADAMTS17):c.937G>C (p.Glu313Gln)	ADAMTS17 (E313Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147854	NM_139057.4(ADAMTS17):c.908C>T (p.Ser303Phe)	ADAMTS17 (S303F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921866	NM_139057.4(ADAMTS17):c.904C>T (p.Arg302Trp)	ADAMTS17 (R302W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2616336	NM_139057.4(ADAMTS17):c.898G>C (p.Gly300Arg)	ADAMTS17 (G300R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1414358	NM_139057.4(ADAMTS17):c.863G>A (p.Arg288Gln)	ADAMTS17 (R288Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3147841	NM_139057.4(ADAMTS17):c.849G>C (p.Lys283Asn)	ADAMTS17 (K283N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147839	NM_139057.4(ADAMTS17):c.847A>C (p.Lys283Gln)	ADAMTS17 (K283Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269445	NM_139057.4(ADAMTS17):c.836T>C (p.Ile279Thr)	ADAMTS17 (I279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469437	NM_139057.4(ADAMTS17):c.813G>C (p.Gln271His)	ADAMTS17 (Q271H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529332	NM_139057.4(ADAMTS17):c.797A>G (p.Asn266Ser)	ADAMTS17 (N266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1411500	NM_139057.4(ADAMTS17):c.757G>T (p.Ala253Ser)	ADAMTS17 (A253S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 315312	NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys)	ADAMTS17 (E251K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2491588	NM_139057.4(ADAMTS17):c.737A>G (p.Gln246Arg)	ADAMTS17 (Q246R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405398	NM_139057.4(ADAMTS17):c.724G>T (p.Ala242Ser)	ADAMTS17 (A242S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3266944	NM_139057.4(ADAMTS17):c.722A>G (p.Asp241Gly)	ADAMTS17 (D241G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1411352	NM_139057.4(ADAMTS17):c.665G>A (p.Arg222Gln)	ADAMTS17 (R222Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1390508	NM_139057.4(ADAMTS17):c.649C>T (p.Arg217Trp)	ADAMTS17 (R217W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2171881	NM_139057.4(ADAMTS17):c.643C>A (p.Pro215Thr)	ADAMTS17 (P215T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1509769	NM_139057.4(ADAMTS17):c.634T>C (p.Trp212Arg)	ADAMTS17 (W212R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2414694	NM_139057.4(ADAMTS17):c.629C>T (p.Pro210Leu)	ADAMTS17 (P210L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2008159	NM_139057.4(ADAMTS17):c.592G>C (p.Glu198Gln)	ADAMTS17 (E198Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885682	NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu)	ADAMTS17 (P197L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2551917	NM_139057.4(ADAMTS17):c.581C>T (p.Ala194Val)	ADAMTS17 (A194V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147819	NM_139057.4(ADAMTS17):c.569C>G (p.Pro190Arg)	ADAMTS17 (P190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 315316	NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys)	ADAMTS17 (W184C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 886689	NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys)	ADAMTS17 (R181K)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive +2 more	GUncertain significance
Select item 2547821	NM_139057.4(ADAMTS17):c.527G>A (p.Arg176Gln)	ADAMTS17 (R176Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2058804	NM_139057.4(ADAMTS17):c.479A>G (p.Gln160Arg)	ADAMTS17 (Q160R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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