ADAMTSL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146851	GRCh38/hg38 15q25.2(chr15:83598551-84060830)x3	ADAMTSL3, LOC126862204 +24 more	Copy number gain	See cases	GLikely benign
Select item 153295	GRCh38/hg38 15q25.2(chr15:83646695-84002267)x1	ADAMTSL3, LOC130057791 +16 more	Copy number loss	See cases	GUncertain significance
Select item 1258788	NM_207517.3(ADAMTSL3):c.-33-40G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
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 2359409	NM_207517.3(ADAMTSL3):c.14C>T (p.Thr5Met)	ADAMTSL3 (T5M)	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 2522482	NM_207517.3(ADAMTSL3):c.58C>T (p.Pro20Ser)	ADAMTSL3 (P20S)	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 1247467	NM_207517.3(ADAMTSL3):c.70-213G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727166	NM_207517.3(ADAMTSL3):c.86C>A (p.Ser29Tyr)	ADAMTSL3 (S29Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3268430	NM_207517.3(ADAMTSL3):c.170C>T (p.Thr57Ile)	ADAMTSL3 (T57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1221815	NM_207517.3(ADAMTSL3):c.189+59_189+60insAG	ADAMTSL3	Insertion (intron variant)	not provided	GBenign
Select item 1279078	NM_207517.3(ADAMTSL3):c.189+110G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 1294088	NM_207517.3(ADAMTSL3):c.190-3T>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3268466	NM_207517.3(ADAMTSL3):c.200A>G (p.Asn67Ser)	ADAMTSL3 (N67S)	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 2431133	NM_207517.3(ADAMTSL3):c.318-243T>C	ADAMTSL3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 1181047	NM_207517.3(ADAMTSL3):c.318-239T>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257800	NM_207517.3(ADAMTSL3):c.363+58A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294099	NM_207517.3(ADAMTSL3):c.363+84G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279714	NM_207517.3(ADAMTSL3):c.364-132del	ADAMTSL3	Deletion (intron variant)	not provided	GBenign
Select item 1252346	NM_207517.3(ADAMTSL3):c.364-34T>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
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 2341056	NM_207517.3(ADAMTSL3):c.380C>T (p.Ala127Val)	ADAMTSL3 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243188	NM_207517.3(ADAMTSL3):c.437A>G (p.His146Arg)	ADAMTSL3 (H146R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3268366	NM_207517.3(ADAMTSL3):c.479C>T (p.Pro160Leu)	ADAMTSL3 (P160L)	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 1282800	NM_207517.3(ADAMTSL3):c.600+250C>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285835	NM_207517.3(ADAMTSL3):c.601-275dup	ADAMTSL3	Duplication (intron variant)	not provided	GBenign
Select item 1260768	NM_207517.3(ADAMTSL3):c.601-271A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252455	NM_207517.3(ADAMTSL3):c.601-84C>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3268387	NM_207517.3(ADAMTSL3):c.617G>A (p.Arg206Gln)	ADAMTSL3 (R206Q)	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 2226723	NM_207517.3(ADAMTSL3):c.632A>G (p.Asn211Ser)	ADAMTSL3 (N211S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2252774	NM_207517.3(ADAMTSL3):c.688G>T (p.Val230Leu)	ADAMTSL3 (V230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1233268	NM_207517.3(ADAMTSL3):c.727+108C>T	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295046	NM_207517.3(ADAMTSL3):c.727+221G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220687	NM_207517.3(ADAMTSL3):c.728-195C>T	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279166	NM_207517.3(ADAMTSL3):c.728-154A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773051	NM_207517.3(ADAMTSL3):c.728-9C>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1268636	NM_207517.3(ADAMTSL3):c.803-299T>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276455	NM_207517.3(ADAMTSL3):c.803-275A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290439	NM_207517.3(ADAMTSL3):c.803-134G>T	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183418	NM_207517.3(ADAMTSL3):c.803-130G>T	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240816	NM_207517.3(ADAMTSL3):c.803-78T>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3268487	NM_207517.3(ADAMTSL3):c.803T>A (p.Phe268Tyr)	ADAMTSL3 (F268Y)	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 1238162	NM_207517.3(ADAMTSL3):c.868C>G (p.Leu290Val)	ADAMTSL3 (L290V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3268456	NM_207517.3(ADAMTSL3):c.920T>A (p.Phe307Tyr)	ADAMTSL3 (F307Y)	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 1261009	NM_207517.3(ADAMTSL3):c.961-295G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245174	NM_207517.3(ADAMTSL3):c.961-230T>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279760	NM_207517.3(ADAMTSL3):c.961-211G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2210413	NM_207517.3(ADAMTSL3):c.1011G>C (p.Gln337His)	ADAMTSL3 (Q337H)	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 1286821	NM_207517.3(ADAMTSL3):c.1072+48A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226277	NM_207517.3(ADAMTSL3):c.1072+54G>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267335	NM_207517.3(ADAMTSL3):c.1072+153A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274898	NM_207517.3(ADAMTSL3):c.1072+241del	ADAMTSL3	Deletion (intron variant)	not provided	GBenign
Select item 1289359	NM_207517.3(ADAMTSL3):c.1072+237A>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294096	NM_207517.3(ADAMTSL3):c.1072+312C>T	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180198	NM_207517.3(ADAMTSL3):c.1072+312C>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228133	NM_207517.3(ADAMTSL3):c.1073-208A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247285	NM_207517.3(ADAMTSL3):c.1073-185A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257891	NM_207517.3(ADAMTSL3):c.1073-160T>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239492	NM_207517.3(ADAMTSL3):c.1073-53A>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1231730	NM_207517.3(ADAMTSL3):c.1212-311_1212-307del	ADAMTSL3	Deletion (intron variant)	not provided	GBenign
Select item 1250145	NM_207517.3(ADAMTSL3):c.1262+251G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1249766	NM_207517.3(ADAMTSL3):c.1467+239C>T	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295049	NM_207517.3(ADAMTSL3):c.1468-217G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241112	NM_207517.3(ADAMTSL3):c.1468-166T>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288946	NM_207517.3(ADAMTSL3):c.1468-82G>C	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265153	NM_207517.3(ADAMTSL3):c.1468-66C>T	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
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 3268507	NM_207517.3(ADAMTSL3):c.1529G>A (p.Gly510Glu)	ADAMTSL3 (G510E)	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 2300437	NM_207517.3(ADAMTSL3):c.1592C>T (p.Pro531Leu)	ADAMTSL3 (P531L)	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 1261126	NM_207517.3(ADAMTSL3):c.1616-241T>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252215	NM_207517.3(ADAMTSL3):c.1616-228_1616-227del	ADAMTSL3	Deletion (intron variant)	not provided	GBenign
Select item 1287468	NM_207517.3(ADAMTSL3):c.1616-226del	ADAMTSL3	Deletion (intron variant)	not provided	GBenign
Select item 1235293	NM_207517.3(ADAMTSL3):c.1700+21A>G	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2431115	NM_207517.3(ADAMTSL3):c.1700+350A>T	ADAMTSL3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 1279536	NM_207517.3(ADAMTSL3):c.1701-239G>A	ADAMTSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240576	NM_207517.3(ADAMTSL3):c.1746G>A (p.Pro582=)	ADAMTSL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1224999	NM_207517.3(ADAMTSL3):c.1761T>C (p.Arg587=)	ADAMTSL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2553749	NM_207517.3(ADAMTSL3):c.1811T>C (p.Leu604Pro)	ADAMTSL3 (L604P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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