ClinVar for Gene (Select 9510) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146568	NM_006988.5(ADAMTS1):c.742A>C (p.Ile248Leu)	ADAMTS1, LOC126653334 (I248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146534	NM_006988.5(ADAMTS1):c.563G>T (p.Arg188Leu)	ADAMTS1 (R188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146526	NM_006988.5(ADAMTS1):c.390T>G (p.Asn130Lys)	ADAMTS1 (N130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146518	NM_006988.5(ADAMTS1):c.355G>C (p.Asp119His)	ADAMTS1 (D119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146495	NM_006988.5(ADAMTS1):c.2723C>T (p.Pro908Leu)	ADAMTS1 (P908L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146484	NM_006988.5(ADAMTS1):c.2524G>A (p.Val842Ile)	ADAMTS1 (V842I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146479	NM_006988.5(ADAMTS1):c.2498G>A (p.Arg833Gln)	ADAMTS1 (R833Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146467	NM_006988.5(ADAMTS1):c.230G>A (p.Arg77His)	ADAMTS1 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146465	NM_006988.5(ADAMTS1):c.206C>T (p.Pro69Leu)	ADAMTS1 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146464	NM_006988.5(ADAMTS1):c.1851T>A (p.Asn617Lys)	ADAMTS1 (N617K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146456	NM_006988.5(ADAMTS1):c.1544C>T (p.Ser515Phe)	ADAMTS1 (S515F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	ADAMTS1, ADAMTS5 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652577	NM_006988.5(ADAMTS1):c.837G>A (p.Lys279=)	ADAMTS1, LOC126653334	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652576	NM_006988.5(ADAMTS1):c.1701T>C (p.Pro567=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652575	NM_006988.5(ADAMTS1):c.1954G>A (p.Val652Ile)	ADAMTS1 (V652I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616214	NM_006988.5(ADAMTS1):c.620C>T (p.Pro207Leu)	ADAMTS1 (P207L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615418	NM_006988.5(ADAMTS1):c.2714C>T (p.Ala905Val)	ADAMTS1 (A905V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605638	NM_006988.5(ADAMTS1):c.2197A>C (p.Ser733Arg)	ADAMTS1 (S733R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596656	NM_006988.5(ADAMTS1):c.19G>C (p.Glu7Gln)	ADAMTS1 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591601	NM_006988.5(ADAMTS1):c.2195C>T (p.Thr732Ile)	ADAMTS1 (T732I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588047	NM_006988.5(ADAMTS1):c.2417C>T (p.Ala806Val)	ADAMTS1 (A806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528028	NM_006988.5(ADAMTS1):c.638C>G (p.Thr213Ser)	ADAMTS1 (T213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526888	NM_006988.5(ADAMTS1):c.2831C>G (p.Ser944Cys)	ADAMTS1 (S944C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519967	NM_006988.5(ADAMTS1):c.2312A>G (p.Lys771Arg)	ADAMTS1 (K771R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515761	NM_006988.5(ADAMTS1):c.2884A>C (p.Thr962Pro)	ADAMTS1 (T962P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474478	NM_006988.5(ADAMTS1):c.2591G>A (p.Gly864Asp)	ADAMTS1 (G864D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472000	NM_006988.5(ADAMTS1):c.610G>A (p.Glu204Lys)	ADAMTS1 (E204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471999	NM_006988.5(ADAMTS1):c.1867G>C (p.Glu623Gln)	ADAMTS1 (E623Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470127	NM_006988.5(ADAMTS1):c.1447G>A (p.Asp483Asn)	ADAMTS1 (D483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469900	NM_006988.5(ADAMTS1):c.61G>A (p.Ala21Thr)	ADAMTS1 (A21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461162	NM_006988.5(ADAMTS1):c.1265G>T (p.Gly422Val)	ADAMTS1 (G422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409935	NM_006988.5(ADAMTS1):c.508A>G (p.Thr170Ala)	ADAMTS1 (T170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407175	NM_006988.5(ADAMTS1):c.676G>A (p.Gly226Arg)	ADAMTS1 (G226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405214	NM_006988.5(ADAMTS1):c.1352T>C (p.Ile451Thr)	ADAMTS1 (I451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399800	NM_006988.5(ADAMTS1):c.2459C>G (p.Pro820Arg)	ADAMTS1 (P820R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380229	NM_006988.5(ADAMTS1):c.2254G>A (p.Glu752Lys)	ADAMTS1 (E752K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379763	NM_006988.5(ADAMTS1):c.1163T>C (p.Ile388Thr)	ADAMTS1 (I388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368268	NM_006988.5(ADAMTS1):c.1034G>A (p.Arg345Gln)	ADAMTS1, LOC126653334 (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361177	NM_006988.5(ADAMTS1):c.1745C>T (p.Thr582Met)	ADAMTS1 (T582M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343410	NM_006988.5(ADAMTS1):c.809T>C (p.Met270Thr)	ADAMTS1, LOC126653334 (M270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340008	NM_006988.5(ADAMTS1):c.1540A>G (p.Thr514Ala)	ADAMTS1 (T514A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334850	NM_006988.5(ADAMTS1):c.35G>A (p.Arg12His)	ADAMTS1 (R12H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331895	NM_006988.5(ADAMTS1):c.686G>T (p.Trp229Leu)	ADAMTS1 (W229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325236	NM_006988.5(ADAMTS1):c.2266C>T (p.Arg756Trp)	ADAMTS1 (R756W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322728	NM_006988.5(ADAMTS1):c.1632G>C (p.Lys544Asn)	ADAMTS1 (K544N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311045	NM_006988.5(ADAMTS1):c.715G>A (p.Val239Ile)	ADAMTS1 (V239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303480	NM_006988.5(ADAMTS1):c.1216G>A (p.Val406Met)	ADAMTS1 (V406M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299724	NM_006988.5(ADAMTS1):c.2387G>T (p.Gly796Val)	ADAMTS1 (G796V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299168	NM_006988.5(ADAMTS1):c.151G>C (p.Gly51Arg)	ADAMTS1 (G51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294237	NM_006988.5(ADAMTS1):c.943G>A (p.Glu315Lys)	ADAMTS1, LOC126653334 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293903	NM_006988.5(ADAMTS1):c.606C>A (p.Asp202Glu)	ADAMTS1 (D202E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288704	NM_006988.5(ADAMTS1):c.2831C>T (p.Ser944Phe)	ADAMTS1 (S944F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281939	NM_006988.5(ADAMTS1):c.80C>T (p.Ser27Phe)	ADAMTS1 (S27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269627	NM_006988.5(ADAMTS1):c.1669C>T (p.Pro557Ser)	ADAMTS1 (P557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264898	NM_006988.5(ADAMTS1):c.586G>A (p.Gly196Ser)	ADAMTS1 (G196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258643	NM_006988.5(ADAMTS1):c.401G>C (p.Ser134Thr)	ADAMTS1 (S134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207406	NM_006988.5(ADAMTS1):c.1442C>T (p.Ser481Leu)	ADAMTS1 (S481L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1708465	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3	MIRLET7C, MRPL39 +23 more	Copy number gain	See cases	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	CRYZL1, CYYR1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526703	GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)	ADAMTS1, ADAMTS5 +23 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1184625	Single allele	ADAMTS1, ADAMTS5 +7 more	Duplication	Alzheimer disease	GPathogenic
Select item 996081	NM_006988.5(ADAMTS1):c.403T>G (p.Ser135Ala)	ADAMTS1 (S135A)	Single nucleotide variant (missense variant)	Nonsyndromic hearing impairment	GUncertain significance
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980227	GRCh37/hg19 21q21.3(chr21:27856249-28514582)x3	ADAMTS5, ADAMTS1 +1 more	Copy number gain	not provided	GLikely benign
Select item 929783	NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr)	ADAMTS1 (S435Y)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 816154	GRCh37/hg19 21q21.3(chr21:28127006-28617997)x3	ADAMTS5, ADAMTS1	Copy number gain	not provided	GUncertain significance
Select item 816153	GRCh37/hg19 21q21.3(chr21:28093025-28374354)x3	ADAMTS5, ADAMTS1	Copy number gain	not provided	GUncertain significance
Select item 816152	GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	BACH1, CLDN8 +44 more	Copy number loss	not provided	GPathogenic
Select item 816143	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1	NCAM2, ADAMTS1 +23 more	Copy number loss	not provided	GPathogenic
Select item 795944	NM_006988.5(ADAMTS1):c.730+7G>T	ADAMTS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791515	NM_006988.5(ADAMTS1):c.2345A>G (p.Asp782Gly)	ADAMTS1 (D782G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786687	NM_006988.5(ADAMTS1):c.483G>A (p.Leu161=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778902	NM_006988.5(ADAMTS1):c.1078-9dup	ADAMTS1, LOC126653334	Duplication (intron variant)	not provided	GBenign
Select item 774534	NM_006988.5(ADAMTS1):c.2267G>A (p.Arg756Gln)	ADAMTS1 (R756Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 756439	NM_006988.5(ADAMTS1):c.1503T>C (p.Asp501=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743116	NM_006988.5(ADAMTS1):c.2466C>G (p.Thr822=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740863	NM_006988.5(ADAMTS1):c.462G>A (p.Glu154=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736505	NM_006988.5(ADAMTS1):c.1472C>T (p.Thr491Ile)	ADAMTS1 (T491I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731287	NM_006988.5(ADAMTS1):c.1399C>G (p.Pro467Ala)	ADAMTS1 (P467A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730731	NM_006988.5(ADAMTS1):c.1726G>A (p.Gly576Ser)	ADAMTS1 (G576S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730730	NM_006988.5(ADAMTS1):c.1853-10C>G	ADAMTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716248	NM_006988.5(ADAMTS1):c.1149A>G (p.Arg383=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716247	NM_006988.5(ADAMTS1):c.2328A>G (p.Thr776=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712870	NM_006988.5(ADAMTS1):c.1587G>A (p.Ala529=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712819	NM_006988.5(ADAMTS1):c.1077+7G>A	ADAMTS1, LOC126653334	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 711248	NM_006988.5(ADAMTS1):c.1891G>A (p.Glu631Lys)	ADAMTS1 (E631K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710161	NM_006988.5(ADAMTS1):c.2813A>G (p.His938Arg)	ADAMTS1 (H938R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710093	NM_006988.5(ADAMTS1):c.2434C>T (p.Arg812Cys)	ADAMTS1 (R812C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708012	NM_006988.5(ADAMTS1):c.1458G>T (p.Arg486=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 635905	Single allele	ADAMTS1, ADAMTS5 +23 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic

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