ClinVar for Gene (Select 11096) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077645	NM_007038.5(ADAMTS5):c.658G>A (p.Glu220Lys)	ADAMTS5 (E220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077641	NM_007038.5(ADAMTS5):c.610C>T (p.Pro204Ser)	ADAMTS5 (P204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077635	NM_007038.5(ADAMTS5):c.557C>G (p.Ser186Cys)	ADAMTS5 (S186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077631	NM_007038.5(ADAMTS5):c.550G>T (p.Asp184Tyr)	ADAMTS5 (D184Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077618	NM_007038.5(ADAMTS5):c.484C>A (p.Arg162Ser)	ADAMTS5 (R162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077614	NM_007038.5(ADAMTS5):c.2754G>T (p.Arg918Ser)	ADAMTS5 (R918S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077595	NM_007038.5(ADAMTS5):c.2380A>C (p.Thr794Pro)	ADAMTS5 (T794P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077590	NM_007038.5(ADAMTS5):c.2282G>A (p.Arg761Gln)	ADAMTS5 (R761Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077583	NM_007038.5(ADAMTS5):c.2204T>C (p.Val735Ala)	ADAMTS5 (V735A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077580	NM_007038.5(ADAMTS5):c.2190C>G (p.Ser730Arg)	ADAMTS5 (S730R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077577	NM_007038.5(ADAMTS5):c.2081G>A (p.Ser694Asn)	ADAMTS5 (S694N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077573	NM_007038.5(ADAMTS5):c.194C>T (p.Ala65Val)	ADAMTS5 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077569	NM_007038.5(ADAMTS5):c.1913G>A (p.Gly638Asp)	ADAMTS5 (G638D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077534	NM_007038.5(ADAMTS5):c.1573G>A (p.Gly525Ser)	ADAMTS5 (G525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077525	NM_007038.5(ADAMTS5):c.1241A>G (p.His414Arg)	ADAMTS5 (H414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077522	NM_007038.5(ADAMTS5):c.1177A>G (p.Ser393Gly)	ADAMTS5, LOC110121429 (S393G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077518	NM_007038.5(ADAMTS5):c.1172A>C (p.Glu391Ala)	ADAMTS5, LOC110121429 (E391A)	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 2600286	NM_007038.5(ADAMTS5):c.2471C>A (p.Ser824Tyr)	ADAMTS5 (S824Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595852	NM_007038.5(ADAMTS5):c.2720G>A (p.Arg907Gln)	ADAMTS5 (R907Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557817	NM_007038.5(ADAMTS5):c.508C>G (p.Arg170Gly)	ADAMTS5 (R170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552780	NM_007038.5(ADAMTS5):c.550G>A (p.Asp184Asn)	ADAMTS5 (D184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549142	NM_007038.5(ADAMTS5):c.850G>T (p.Gly284Cys)	ADAMTS5 (G284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544519	NM_007038.5(ADAMTS5):c.1102G>A (p.Glu368Lys)	ADAMTS5 (E368K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519419	NM_007038.5(ADAMTS5):c.146A>G (p.Glu49Gly)	ADAMTS5 (E49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496433	NM_007038.5(ADAMTS5):c.2606A>T (p.Lys869Ile)	ADAMTS5 (K869I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483950	NM_007038.5(ADAMTS5):c.1581G>C (p.Met527Ile)	ADAMTS5 (M527I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483224	NM_007038.5(ADAMTS5):c.1631A>G (p.Lys544Arg)	ADAMTS5 (K544R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471938	NM_007038.5(ADAMTS5):c.547G>T (p.Gly183Trp)	ADAMTS5 (G183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469877	NM_007038.5(ADAMTS5):c.1358C>T (p.Ser453Phe)	ADAMTS5 (S453F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461013	NM_007038.5(ADAMTS5):c.314A>T (p.Asp105Val)	ADAMTS5 (D105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456625	NM_007038.5(ADAMTS5):c.213G>T (p.Lys71Asn)	ADAMTS5 (K71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455633	NM_007038.5(ADAMTS5):c.187C>A (p.Pro63Thr)	ADAMTS5 (P63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410386	NM_007038.5(ADAMTS5):c.1621C>G (p.Pro541Ala)	ADAMTS5 (P541A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405655	NM_007038.5(ADAMTS5):c.180C>G (p.His60Gln)	ADAMTS5 (H60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403938	NM_007038.5(ADAMTS5):c.850G>A (p.Gly284Ser)	ADAMTS5 (G284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384872	NM_007038.5(ADAMTS5):c.2390C>T (p.Thr797Ile)	ADAMTS5 (T797I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384827	NM_007038.5(ADAMTS5):c.2719C>T (p.Arg907Trp)	ADAMTS5 (R907W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381756	NM_007038.5(ADAMTS5):c.185A>G (p.His62Arg)	ADAMTS5 (H62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380502	NM_007038.5(ADAMTS5):c.1619C>T (p.Thr540Met)	ADAMTS5 (T540M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354661	NM_007038.5(ADAMTS5):c.680A>T (p.Asn227Ile)	ADAMTS5 (N227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334580	NM_007038.5(ADAMTS5):c.1507C>T (p.Pro503Ser)	ADAMTS5 (P503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332975	NM_007038.5(ADAMTS5):c.515C>T (p.Pro172Leu)	ADAMTS5 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332514	NM_007038.5(ADAMTS5):c.2543G>T (p.Ser848Ile)	ADAMTS5 (S848I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332208	NM_007038.5(ADAMTS5):c.2299G>A (p.Asp767Asn)	ADAMTS5 (D767N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312708	NM_007038.5(ADAMTS5):c.806T>C (p.Val269Ala)	ADAMTS5 (V269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290684	NM_007038.5(ADAMTS5):c.535G>A (p.Gly179Arg)	ADAMTS5 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279963	NM_007038.5(ADAMTS5):c.1808G>T (p.Gly603Val)	ADAMTS5 (G603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265010	NM_007038.5(ADAMTS5):c.1885C>T (p.Arg629Cys)	ADAMTS5 (R629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264860	NM_007038.5(ADAMTS5):c.1904C>T (p.Ala635Val)	ADAMTS5 (A635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238302	NM_007038.5(ADAMTS5):c.817C>G (p.Leu273Val)	ADAMTS5 (L273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235345	NM_007038.5(ADAMTS5):c.584G>A (p.Arg195His)	ADAMTS5 (R195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212200	NM_007038.5(ADAMTS5):c.2428G>A (p.Gly810Ser)	ADAMTS5 (G810S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208906	NM_007038.5(ADAMTS5):c.223C>G (p.Gln75Glu)	ADAMTS5 (Q75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1340235	GRCh37/hg19 21q21.3(chr21:28240161-29421743)x3	ADAMTS5	Copy number gain	not provided	GLikely benign
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1298880	NM_007038.5(ADAMTS5):c.852C>T (p.Gly284=)	ADAMTS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1249546	NM_007038.5(ADAMTS5):c.2075T>C (p.Leu692Pro)	ADAMTS5 (L692P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1184625	Single allele	ADAMTS1, ADAMTS5 +7 more	Duplication	Alzheimer disease	GPathogenic
Select item 1181193	NM_007038.5(ADAMTS5):c.1841G>A (p.Arg614His)	ADAMTS5 (R614H)	Single nucleotide variant (missense variant)	not provided	GBenign
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 929784	NM_007038.5(ADAMTS5):c.2176G>A (p.Gly726Arg)	ADAMTS5 (G726R)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
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 787503	NM_007038.5(ADAMTS5):c.730C>T (p.Leu244Phe)	ADAMTS5 (L244F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781593	NM_007038.5(ADAMTS5):c.2076G>A (p.Leu692=)	ADAMTS5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769119	NM_007038.5(ADAMTS5):c.928C>T (p.His310Tyr)	ADAMTS5 (H310Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710385	NM_007038.5(ADAMTS5):c.840G>T (p.Ala280=)	ADAMTS5	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
Select item 564667	GRCh37/hg19 21q21.3(chr21:28230409-29421743)x3	ADAMTS5	Copy number gain	not provided	GLikely benign
Select item 564666	GRCh37/hg19 21q21.3(chr21:28243898-29417762)x3	ADAMTS5	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 442418	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	See cases	GPathogenic
Select item 395244	GRCh37/hg19 21q21.3(chr21:28338961-28628861)x3	ADAMTS5	Copy number gain	See cases	GLikely benign
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	BTG3, C21orf58 +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	C21orf91, LOC125387325 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC126653329, LOC130066449 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	CCT8, CLDN17 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155187	GRCh38/hg38 21q21.3(chr21:26244753-28273836)x1	ADAMTS1, ADAMTS5 +15 more	Copy number loss	See cases	GLikely benign

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