"GeneDx"[submitter] AND "ADAMTS10"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 893577	NM_030957.4(ADAMTS10):c.*259G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 330572	NM_030957.4(ADAMTS10):c.*238dup	ADAMTS10	Duplication (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 893579	NM_030957.4(ADAMTS10):c.*171G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GLikely benign
Select item 893868	NM_030957.4(ADAMTS10):c.*20G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 518307	NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln)	ADAMTS10 (H1101Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1222233	NM_030957.4(ADAMTS10):c.3203-129A>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257362	NM_030957.4(ADAMTS10):c.3202+252C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 81472	NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser)	ADAMTS10 (G1065S +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GBenign/Likely benign
Select item 330579	NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 330580	NM_030957.3(ADAMTS10):c.3043-12_3043-6dup	ADAMTS10	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1199873	NM_030957.4(ADAMTS10):c.2661-68G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246018	NM_030957.4(ADAMTS10):c.2661-107T>C	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225814	NM_030957.4(ADAMTS10):c.2661-123C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243416	NM_030957.4(ADAMTS10):c.2660+170T>C	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330582	NM_030957.4(ADAMTS10):c.2584G>T (p.Ala862Ser)	ADAMTS10 (A862S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 391605	NM_030957.4(ADAMTS10):c.2462G>A (p.Arg821His)	ADAMTS10 (R821H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330585	NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg)	ADAMTS10 (L808R +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 787569	NM_030957.4(ADAMTS10):c.2403+4A>G	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome 1 +2 more	GBenign/Likely benign
Select item 1302582	NM_030957.4(ADAMTS10):c.2288C>G (p.Thr763Ser)	ADAMTS10 (T250S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 330587	NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1240753	NM_030957.4(ADAMTS10):c.2159-27G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270105	NM_030957.4(ADAMTS10):c.2159-67G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214194	NM_030957.4(ADAMTS10):c.2159-267GAAA[6]	ADAMTS10	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1183507	NM_030957.4(ADAMTS10):c.2159-279dup	ADAMTS10	Duplication (intron variant)	not provided	GLikely benign
Select item 1227885	NM_030957.4(ADAMTS10):c.2158+20C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1438060	NM_030957.4(ADAMTS10):c.2051G>A (p.Arg684Gln)	ADAMTS10 (R171Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330593	NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His)	ADAMTS10 (R665H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1253885	NM_030957.4(ADAMTS10):c.1901-108C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186699	NM_030957.4(ADAMTS10):c.1901-147G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 330597	NM_030957.4(ADAMTS10):c.1900+11G>C	ADAMTS10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1225073	NM_030957.4(ADAMTS10):c.1798-41C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212244	NM_030957.4(ADAMTS10):c.1797+110A>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342748	NM_030957.4(ADAMTS10):c.1797+28del	ADAMTS10	Deletion (intron variant)	not provided	GLikely benign
Select item 744760	NM_030957.4(ADAMTS10):c.1719C>T (p.His573=)	ADAMTS10 (T64I)	Single nucleotide variant (missense variant +1 more)	Weill-Marchesani syndrome +1 more	GConflicting classifications of pathogenicity
Select item 330601	NM_030957.4(ADAMTS10):c.1588-7C>G	ADAMTS10 (P18R)	Single nucleotide variant (missense variant +1 more)	Weill-Marchesani syndrome +2 more	GBenign/Likely benign
Select item 1229909	NM_030957.4(ADAMTS10):c.1588-38C>T	ADAMTS10 (R8W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1298236	NM_030957.4(ADAMTS10):c.1588-91CT[3]	ADAMTS10	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1285867	NM_030957.4(ADAMTS10):c.1588-95A>G	ADAMTS10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1233332	NM_030957.4(ADAMTS10):c.1588-106_1588-105insCCCATCCCCTTCCAGC	ADAMTS10	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1260598	NM_030957.4(ADAMTS10):c.1588-141_1588-140del	ADAMTS10	Microsatellite (intron variant)	not provided	GBenign
Select item 1188949	NM_030957.4(ADAMTS10):c.1588-179G>T	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome 1 +1 more	GBenign
Select item 1276939	NM_030957.4(ADAMTS10):c.1588-252G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278816	NM_030957.4(ADAMTS10):c.1587+107A>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297457	NM_030957.4(ADAMTS10):c.1480-117C>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330605	NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +1 more	GBenign
Select item 1225337	NM_030957.4(ADAMTS10):c.1337+67C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220488	NM_030957.4(ADAMTS10):c.1337+22C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1505266	NM_030957.4(ADAMTS10):c.1337+3G>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1697113	NM_030957.4(ADAMTS10):c.1114C>T (p.Arg372Cys)	ADAMTS10 (R372C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326705	NM_030957.4(ADAMTS10):c.811-145C>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231093	NM_030957.4(ADAMTS10):c.811-149_811-147del	ADAMTS10	Deletion (intron variant)	not provided	GBenign
Select item 1271339	NM_030957.4(ADAMTS10):c.810+273G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190156	NM_030957.4(ADAMTS10):c.810+240A>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189951	NM_030957.4(ADAMTS10):c.810+229G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239500	NM_030957.4(ADAMTS10):c.810+208G>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238618	NM_030957.4(ADAMTS10):c.810+208G>C	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220192	NM_030957.4(ADAMTS10):c.810+188A>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804595	NM_030957.4(ADAMTS10):c.810+179A>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213029	NM_030957.4(ADAMTS10):c.810+170C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265425	NM_030957.4(ADAMTS10):c.810+151A>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296544	NM_030957.4(ADAMTS10):c.810+136G>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372418	NM_030957.4(ADAMTS10):c.635T>C (p.Leu212Ser)	ADAMTS10 (L212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216255	NM_030957.4(ADAMTS10):c.593-234dup	ADAMTS10	Duplication (intron variant)	not provided	GLikely benign
Select item 1268711	NM_030957.4(ADAMTS10):c.593-218del	ADAMTS10	Deletion (intron variant)	not provided	GBenign
Select item 1251367	NM_030957.4(ADAMTS10):c.592+297G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213322	NM_030957.4(ADAMTS10):c.592+258G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198247	NM_030957.4(ADAMTS10):c.592+122G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261148	NM_030957.4(ADAMTS10):c.592+23G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423062	NM_030957.4(ADAMTS10):c.587T>A (p.Val196Glu)	ADAMTS10 (V196E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1195064	NM_030957.4(ADAMTS10):c.436-59G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189572	NM_030957.4(ADAMTS10):c.436-130_436-129dup	ADAMTS10	Duplication (intron variant)	not provided	GLikely benign
Select item 1296542	NM_030957.4(ADAMTS10):c.436-118=	ADAMTS10	Deletion (intron variant)	not provided	GBenign
Select item 1216420	NM_030957.4(ADAMTS10):c.436-118del	ADAMTS10	Deletion (intron variant)	not provided	GLikely benign
Select item 1263872	NM_030957.4(ADAMTS10):c.435+30A>C	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296543	NM_030957.4(ADAMTS10):c.435+24=	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330611	NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln)	ADAMTS10 (R119Q)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +1 more	GBenign
Select item 715260	NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys)	ADAMTS10 (E73K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 787477	NM_030957.4(ADAMTS10):c.204G>A (p.Thr68=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 330613	NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln)	ADAMTS10 (R62Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 80