ClinVar for Gene (Select 57188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079469	NM_207517.3(ADAMTSL3):c.5027C>T (p.Ser1676Phe)	ADAMTSL3, LOC132090352 (S1676F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079456	NM_207517.3(ADAMTSL3):c.4741G>C (p.Asp1581His)	ADAMTSL3 (D1581H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079448	NM_207517.3(ADAMTSL3):c.4699C>T (p.Arg1567Cys)	ADAMTSL3 (R1567C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079441	NM_207517.3(ADAMTSL3):c.4654C>T (p.Arg1552Trp)	ADAMTSL3 (R1552W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079437	NM_207517.3(ADAMTSL3):c.458G>A (p.Arg153Gln)	ADAMTSL3 (R153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079436	NM_207517.3(ADAMTSL3):c.4561G>T (p.Val1521Leu)	ADAMTSL3 (V1521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079427	NM_207517.3(ADAMTSL3):c.4276C>T (p.Pro1426Ser)	ADAMTSL3 (P1426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079423	NM_207517.3(ADAMTSL3):c.4265C>T (p.Pro1422Leu)	ADAMTSL3 (P1422L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079419	NM_207517.3(ADAMTSL3):c.4223C>T (p.Thr1408Ile)	ADAMTSL3 (T1408I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079411	NM_207517.3(ADAMTSL3):c.4129G>A (p.Val1377Met)	ADAMTSL3 (V1377M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079405	NM_207517.3(ADAMTSL3):c.4096G>T (p.Val1366Phe)	ADAMTSL3 (V1366F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079395	NM_207517.3(ADAMTSL3):c.3992T>G (p.Ile1331Arg)	ADAMTSL3 (I1331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079393	NM_207517.3(ADAMTSL3):c.3898C>T (p.His1300Tyr)	ADAMTSL3 (H1300Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079387	NM_207517.3(ADAMTSL3):c.3824G>A (p.Ser1275Asn)	ADAMTSL3 (S1275N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079377	NM_207517.3(ADAMTSL3):c.378T>A (p.Asp126Glu)	ADAMTSL3 (D126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079374	NM_207517.3(ADAMTSL3):c.3778A>G (p.Ile1260Val)	ADAMTSL3 (I1260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079369	NM_207517.3(ADAMTSL3):c.3566C>T (p.Ser1189Leu)	ADAMTSL3 (S1189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079364	NM_207517.3(ADAMTSL3):c.3292G>A (p.Glu1098Lys)	ADAMTSL3 (E1098K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079358	NM_207517.3(ADAMTSL3):c.3223T>G (p.Leu1075Val)	ADAMTSL3 (L1075V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079342	NM_207517.3(ADAMTSL3):c.2929A>G (p.Ile977Val)	ADAMTSL3 (I977V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079330	NM_207517.3(ADAMTSL3):c.27G>T (p.Trp9Cys)	ADAMTSL3 (W9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079315	NM_207517.3(ADAMTSL3):c.2586G>T (p.Met862Ile)	ADAMTSL3 (M862I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079307	NM_207517.3(ADAMTSL3):c.2420A>G (p.Lys807Arg)	ADAMTSL3 (K807R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079300	NM_207517.3(ADAMTSL3):c.2234A>G (p.Asp745Gly)	ADAMTSL3 (D745G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079287	NM_207517.3(ADAMTSL3):c.1939G>A (p.Asp647Asn)	ADAMTSL3 (D647N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079282	NM_207517.3(ADAMTSL3):c.1931C>T (p.Thr644Met)	ADAMTSL3 (T644M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079280	NM_207517.3(ADAMTSL3):c.1832G>T (p.Gly611Val)	ADAMTSL3 (G611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079261	NM_207517.3(ADAMTSL3):c.13A>T (p.Thr5Ser)	ADAMTSL3 (T5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685528	GRCh37/hg19 15q25.2(chr15:84424526-84504479)x1	ADAMTSL3	Copy number loss	not provided	GUncertain significance
Select item 2685526	GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1	BTBD1, SCARNA15 +11 more	Copy number loss	not provided	GPathogenic
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2645646	NM_207517.3(ADAMTSL3):c.4878C>T (p.His1626=)	ADAMTSL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610621	NM_207517.3(ADAMTSL3):c.3192C>G (p.Ser1064Arg)	ADAMTSL3 (S1064R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606505	NM_207517.3(ADAMTSL3):c.2935G>A (p.Val979Met)	ADAMTSL3 (V979M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604575	NM_207517.3(ADAMTSL3):c.2326G>T (p.Gly776Cys)	ADAMTSL3 (G776C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590201	NM_207517.3(ADAMTSL3):c.3001C>T (p.Arg1001Trp)	ADAMTSL3 (R1001W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2569145	NM_207517.3(ADAMTSL3):c.4454C>T (p.Ala1485Val)	ADAMTSL3 (A1485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559890	NM_207517.3(ADAMTSL3):c.4417G>C (p.Ala1473Pro)	ADAMTSL3 (A1473P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553749	NM_207517.3(ADAMTSL3):c.1811T>C (p.Leu604Pro)	ADAMTSL3 (L604P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547637	NM_207517.3(ADAMTSL3):c.3245C>T (p.Ala1082Val)	ADAMTSL3 (A1082V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547095	NM_207517.3(ADAMTSL3):c.1453A>G (p.Met485Val)	ADAMTSL3 (M485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545547	NM_207517.3(ADAMTSL3):c.4057T>G (p.Leu1353Val)	ADAMTSL3 (L1353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543988	NM_207517.3(ADAMTSL3):c.2932G>A (p.Gly978Ser)	ADAMTSL3 (G978S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538552	NM_207517.3(ADAMTSL3):c.3868G>C (p.Glu1290Gln)	ADAMTSL3 (E1290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525624	NM_207517.3(ADAMTSL3):c.1613A>G (p.Lys538Arg)	ADAMTSL3 (K538R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524363	NM_207517.3(ADAMTSL3):c.1099G>A (p.Val367Met)	ADAMTSL3 (V367M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522482	NM_207517.3(ADAMTSL3):c.58C>T (p.Pro20Ser)	ADAMTSL3 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512112	NM_207517.3(ADAMTSL3):c.2810G>A (p.Arg937Gln)	ADAMTSL3 (R937Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510957	NM_207517.3(ADAMTSL3):c.617G>C (p.Arg206Pro)	ADAMTSL3 (R206P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509255	NM_207517.3(ADAMTSL3):c.2591G>A (p.Arg864Lys)	ADAMTSL3 (R864K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2491896	NM_207517.3(ADAMTSL3):c.2587T>C (p.Cys863Arg)	ADAMTSL3 (C863R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480655	NM_207517.3(ADAMTSL3):c.3428A>T (p.Glu1143Val)	ADAMTSL3 (E1143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476163	NM_207517.3(ADAMTSL3):c.4111A>G (p.Asn1371Asp)	ADAMTSL3 (N1371D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474897	NM_207517.3(ADAMTSL3):c.1061C>T (p.Thr354Met)	ADAMTSL3 (T354M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473741	NM_207517.3(ADAMTSL3):c.3814G>C (p.Asp1272His)	ADAMTSL3 (D1272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464971	NM_207517.3(ADAMTSL3):c.667G>A (p.Asp223Asn)	ADAMTSL3 (D223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462677	NM_207517.3(ADAMTSL3):c.764G>A (p.Arg255Gln)	ADAMTSL3 (R255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461197	NM_207517.3(ADAMTSL3):c.563C>T (p.Thr188Met)	ADAMTSL3 (T188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457967	NM_207517.3(ADAMTSL3):c.2353A>G (p.Thr785Ala)	ADAMTSL3 (T785A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456734	NM_207517.3(ADAMTSL3):c.4337G>A (p.Arg1446His)	ADAMTSL3 (R1446H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431171	NM_207517.3(ADAMTSL3):c.4729G>C (p.Asp1577His)	ADAMTSL3 (D1577H)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431133	NM_207517.3(ADAMTSL3):c.318-243T>C	ADAMTSL3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431115	NM_207517.3(ADAMTSL3):c.1700+350A>T	ADAMTSL3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431109	NM_207517.3(ADAMTSL3):c.2490+207A>C	ADAMTSL3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431108	NM_207517.3(ADAMTSL3):c.2490+210C>G	ADAMTSL3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2398807	NM_207517.3(ADAMTSL3):c.4700G>A (p.Arg1567His)	ADAMTSL3 (R1567H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386736	NM_207517.3(ADAMTSL3):c.2671C>G (p.Leu891Val)	ADAMTSL3 (L891V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384110	NM_207517.3(ADAMTSL3):c.1502G>A (p.Arg501Gln)	ADAMTSL3 (R501Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382927	NM_207517.3(ADAMTSL3):c.4708G>T (p.Ala1570Ser)	ADAMTSL3 (A1570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382926	NM_207517.3(ADAMTSL3):c.4051T>C (p.Ser1351Pro)	ADAMTSL3 (S1351P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378804	NM_207517.3(ADAMTSL3):c.2785T>G (p.Ser929Ala)	ADAMTSL3 (S929A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374683	NM_207517.3(ADAMTSL3):c.2983C>T (p.Leu995Phe)	ADAMTSL3 (L995F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359409	NM_207517.3(ADAMTSL3):c.14C>T (p.Thr5Met)	ADAMTSL3 (T5M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358565	NM_207517.3(ADAMTSL3):c.2114C>G (p.Pro705Arg)	ADAMTSL3 (P705R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357920	NM_207517.3(ADAMTSL3):c.4772A>G (p.Asn1591Ser)	ADAMTSL3 (N1591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357452	NM_207517.3(ADAMTSL3):c.806T>C (p.Ile269Thr)	ADAMTSL3 (I269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354167	NM_207517.3(ADAMTSL3):c.4595G>A (p.Arg1532Gln)	ADAMTSL3 (R1532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352169	NM_207517.3(ADAMTSL3):c.2069G>T (p.Arg690Leu)	ADAMTSL3 (R690L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350288	NM_207517.3(ADAMTSL3):c.1762G>A (p.Glu588Lys)	ADAMTSL3 (E588K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344184	NM_207517.3(ADAMTSL3):c.1544G>A (p.Gly515Asp)	ADAMTSL3 (G515D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342123	NM_207517.3(ADAMTSL3):c.5062T>C (p.Cys1688Arg)	ADAMTSL3, LOC132090352 (C1688R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2341056	NM_207517.3(ADAMTSL3):c.380C>T (p.Ala127Val)	ADAMTSL3 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336984	NM_207517.3(ADAMTSL3):c.68A>T (p.Gln23Leu)	ADAMTSL3 (Q23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333470	NM_207517.3(ADAMTSL3):c.4082A>G (p.Asn1361Ser)	ADAMTSL3 (N1361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325010	NM_207517.3(ADAMTSL3):c.3752A>G (p.Gln1251Arg)	ADAMTSL3 (Q1251R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315910	NM_207517.3(ADAMTSL3):c.4039C>T (p.Leu1347Phe)	ADAMTSL3 (L1347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306946	NM_207517.3(ADAMTSL3):c.2506G>A (p.Gly836Ser)	ADAMTSL3 (G836S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300437	NM_207517.3(ADAMTSL3):c.1592C>T (p.Pro531Leu)	ADAMTSL3 (P531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293904	NM_207517.3(ADAMTSL3):c.4171G>C (p.Glu1391Gln)	ADAMTSL3 (E1391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289561	NM_207517.3(ADAMTSL3):c.3485C>G (p.Ser1162Trp)	ADAMTSL3 (S1162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281756	NM_207517.3(ADAMTSL3):c.2888A>T (p.Lys963Met)	ADAMTSL3 (K963M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279329	NM_207517.3(ADAMTSL3):c.212A>G (p.Asp71Gly)	ADAMTSL3 (D71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276540	NM_207517.3(ADAMTSL3):c.2840A>G (p.Glu947Gly)	ADAMTSL3 (E947G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276122	NM_207517.3(ADAMTSL3):c.922A>G (p.Lys308Glu)	ADAMTSL3 (K308E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264404	NM_207517.3(ADAMTSL3):c.2752A>G (p.Ile918Val)	ADAMTSL3 (I918V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252774	NM_207517.3(ADAMTSL3):c.688G>T (p.Val230Leu)	ADAMTSL3 (V230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248257	NM_207517.3(ADAMTSL3):c.2477G>A (p.Gly826Glu)	ADAMTSL3 (G826E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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