ClinVar Miner

List of variants in gene ADAMTS2 reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP
NC_000005.10:g.(?_179113857)_(179345338_?)dup
NC_000005.10:g.(?_179121651)_(179122783_?)del
NC_000005.10:g.(?_179343757)_(179345338_?)dup
NC_000005.9:g.(?_178770748)_(178772349_?)dup
NM_014244.5(ADAMTS2):c.*1077A>G
NM_014244.5(ADAMTS2):c.*1361A>G rs142875628
NM_014244.5(ADAMTS2):c.*1411G>A
NM_014244.5(ADAMTS2):c.*1446dup rs151062906
NM_014244.5(ADAMTS2):c.*1589T>C
NM_014244.5(ADAMTS2):c.*1639C>T rs138971097
NM_014244.5(ADAMTS2):c.*1747A>C rs886060486
NM_014244.5(ADAMTS2):c.*174G>A
NM_014244.5(ADAMTS2):c.*1777T>C
NM_014244.5(ADAMTS2):c.*181C>T rs886060489
NM_014244.5(ADAMTS2):c.*1837T>G
NM_014244.5(ADAMTS2):c.*183T>C rs184732586
NM_014244.5(ADAMTS2):c.*1919T>G rs574968586
NM_014244.5(ADAMTS2):c.*1941C>T rs886060485
NM_014244.5(ADAMTS2):c.*2035G>A
NM_014244.5(ADAMTS2):c.*2064A>G rs759155545
NM_014244.5(ADAMTS2):c.*2147C>T rs886060484
NM_014244.5(ADAMTS2):c.*2169G>A
NM_014244.5(ADAMTS2):c.*2180C>A
NM_014244.5(ADAMTS2):c.*222C>T rs886060488
NM_014244.5(ADAMTS2):c.*2270C>T rs886060483
NM_014244.5(ADAMTS2):c.*2302C>T
NM_014244.5(ADAMTS2):c.*2440G>A rs546192004
NM_014244.5(ADAMTS2):c.*2511C>A
NM_014244.5(ADAMTS2):c.*2589T>G rs886060482
NM_014244.5(ADAMTS2):c.*2595C>T rs188054405
NM_014244.5(ADAMTS2):c.*2598A>G rs371733200
NM_014244.5(ADAMTS2):c.*2724A>G rs886060481
NM_014244.5(ADAMTS2):c.*2820C>A
NM_014244.5(ADAMTS2):c.*2840T>G
NM_014244.5(ADAMTS2):c.*2853G>A rs565652629
NM_014244.5(ADAMTS2):c.*2854T>C rs11740156
NM_014244.5(ADAMTS2):c.*2923_*2925AAC[1] rs886060480
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA rs386695575
NM_014244.5(ADAMTS2):c.*353C>T rs886060487
NM_014244.5(ADAMTS2):c.*518G>T
NM_014244.5(ADAMTS2):c.*524G>A
NM_014244.5(ADAMTS2):c.*550G>A
NM_014244.5(ADAMTS2):c.*615T>C
NM_014244.5(ADAMTS2):c.*707A>G rs149592164
NM_014244.5(ADAMTS2):c.*813G>C
NM_014244.5(ADAMTS2):c.*835C>T
NM_014244.5(ADAMTS2):c.*843G>A rs778909760
NM_014244.5(ADAMTS2):c.*985C>T
NM_014244.5(ADAMTS2):c.-13C>A rs886060499
NM_014244.5(ADAMTS2):c.-45T>C rs886060500
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=) rs1402048390
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys) rs751283120
NM_014244.5(ADAMTS2):c.1031G>A (p.Arg344His)
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) rs150079799
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser) rs886060494
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe) rs1064796637
NM_014244.5(ADAMTS2):c.1163C>T (p.Pro388Leu) rs762460815
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218
NM_014244.5(ADAMTS2):c.119_121CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.1208C>T (p.Ala403Val) rs756455382
NM_014244.5(ADAMTS2):c.1264G>A (p.Gly422Ser) rs200813745
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn) rs1554100033
NM_014244.5(ADAMTS2):c.1325C>A (p.Ala442Asp)
NM_014244.5(ADAMTS2):c.1343G>C (p.Trp448Ser)
NM_014244.5(ADAMTS2):c.1349G>A (p.Arg450His)
NM_014244.5(ADAMTS2):c.134C>A (p.Pro45His)
NM_014244.5(ADAMTS2):c.1375T>C (p.Tyr459His)
NM_014244.5(ADAMTS2):c.1383-3C>A rs1554126056
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=) rs1181728258
NM_014244.5(ADAMTS2):c.1420G>A (p.Asp474Asn)
NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu) rs762123346
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=)
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val) rs370614125
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu) rs1019548575
NM_014244.5(ADAMTS2):c.1516-3C>T
NM_014244.5(ADAMTS2):c.1629+6G>A
NM_014244.5(ADAMTS2):c.165G>C (p.Glu55Asp) rs1581300233
NM_014244.5(ADAMTS2):c.1669A>G (p.Ile557Val)
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu) rs368700721
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val) rs768252348
NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys) rs1212597027
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr) rs145336133
NM_014244.5(ADAMTS2):c.1776C>A (p.His592Gln) rs1561773783
NM_014244.5(ADAMTS2):c.1802C>T (p.Ser601Leu)
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=)
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=)
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=)
NM_014244.5(ADAMTS2):c.1867C>T (p.Arg623Cys) rs752401488
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser) rs201864255
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=) rs142275705
NM_014244.5(ADAMTS2):c.1912G>A (p.Asp638Asn) rs376707472
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484
NM_014244.5(ADAMTS2):c.1928_1929delinsAC (p.Trp643Tyr)
NM_014244.5(ADAMTS2):c.1946G>A (p.Arg649Gln)
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=)
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg) rs745588970
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu) rs144554943
NM_014244.5(ADAMTS2):c.2080T>C (p.Cys694Arg) rs1581145754
NM_014244.5(ADAMTS2):c.2086-3C>T
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=) rs150587776
NM_014244.5(ADAMTS2):c.2191C>T (p.Arg731Trp)
NM_014244.5(ADAMTS2):c.2198C>G (p.Pro733Arg)
NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val) rs201241062
NM_014244.5(ADAMTS2):c.2243C>T (p.Ala748Val) rs780473688
NM_014244.5(ADAMTS2):c.2261A>G (p.Gln754Arg) rs779256197
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn) rs886060493
NM_014244.5(ADAMTS2):c.228G>A (p.Ser76=)
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209
NM_014244.5(ADAMTS2):c.2293G>A (p.Val765Ile) rs777314559
NM_014244.5(ADAMTS2):c.2305G>C (p.Glu769Gln)
NM_014244.5(ADAMTS2):c.2351G>T (p.Ser784Ile)
NM_014244.5(ADAMTS2):c.2356A>G (p.Lys786Glu)
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys) rs747447840
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met) rs370350117
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp) rs376995938
NM_014244.5(ADAMTS2):c.2492C>T (p.Thr831Met)
NM_014244.5(ADAMTS2):c.2530_2532GAC[1] (p.Asp845del)
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His) rs76488852
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.2594C>T (p.Pro865Leu)
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val) rs1338541722
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln) rs772028555
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=)
NM_014244.5(ADAMTS2):c.2689G>A (p.Ala897Thr)
NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr)
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val) rs141654276
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888
NM_014244.5(ADAMTS2):c.2751-15G>A rs376602983
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn) rs1193602528
NM_014244.5(ADAMTS2):c.2794C>T (p.Arg932Trp)
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala) rs886060492
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn)
NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del) rs765659887
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr)
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met)
NM_014244.5(ADAMTS2):c.2884G>A (p.Ala962Thr)
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=) rs546361762
NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His)
NM_014244.5(ADAMTS2):c.2902C>T (p.Arg968Trp)
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln)
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys) rs867846785
NM_014244.5(ADAMTS2):c.2930G>A (p.Gly977Asp)
NM_014244.5(ADAMTS2):c.2933G>A (p.Arg978His)
NM_014244.5(ADAMTS2):c.2958+14C>T
NM_014244.5(ADAMTS2):c.2958+4C>T rs375345961
NM_014244.5(ADAMTS2):c.2959-7C>G
NM_014244.5(ADAMTS2):c.295G>A (p.Gly99Arg)
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=) rs769689633
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) rs150535792
NM_014244.5(ADAMTS2):c.303C>A (p.Asn101Lys) rs373406403
NM_014244.5(ADAMTS2):c.3064A>T (p.Thr1022Ser) rs1434954526
NM_014244.5(ADAMTS2):c.3072G>T (p.Arg1024Ser)
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3080C>T (p.Pro1027Leu)
NM_014244.5(ADAMTS2):c.3089-7C>A
NM_014244.5(ADAMTS2):c.3116G>A (p.Ser1039Asn) rs771197106
NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu) rs778184902
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala) rs201390756
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)
NM_014244.5(ADAMTS2):c.3232C>T (p.Arg1078Cys) rs755578308
NM_014244.5(ADAMTS2):c.3234C>G (p.Arg1078=) rs1581132640
NM_014244.5(ADAMTS2):c.3261G>A (p.Lys1087=)
NM_014244.5(ADAMTS2):c.3337C>T (p.His1113Tyr)
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met) rs148717330
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe) rs201343773
NM_014244.5(ADAMTS2):c.3376C>A (p.Pro1126Thr)
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805
NM_014244.5(ADAMTS2):c.346T>G (p.Phe116Val)
NM_014244.5(ADAMTS2):c.3490C>T (p.Pro1164Ser)
NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg) rs141541318
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln) rs140845527
NM_014244.5(ADAMTS2):c.3547C>T (p.Arg1183Ter)
NM_014244.5(ADAMTS2):c.3603G>T (p.Glu1201Asp)
NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile) rs1278681689
NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln) rs772059202
NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp) rs535594659
NM_014244.5(ADAMTS2):c.394G>A (p.Ala132Thr) rs774483457
NM_014244.5(ADAMTS2):c.40C>T (p.Pro14Ser)
NM_014244.5(ADAMTS2):c.411G>A (p.Met137Ile) rs777436451
NM_014244.5(ADAMTS2):c.439C>G (p.Arg147Gly)
NM_014244.5(ADAMTS2):c.440G>T (p.Arg147Leu)
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met) rs780603629
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup) rs540605802
NM_014244.5(ADAMTS2):c.47TGC[12] (p.Leu20_Leu23dup)
NM_014244.5(ADAMTS2):c.47_49TGC[10] (p.Leu22_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[11] (p.Leu21_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[6] (p.Leu22_Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup) rs1365580904
NM_014244.5(ADAMTS2):c.526G>A (p.Asp176Asn)
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln)
NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu) rs76704342
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val) rs749842975
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His)
NM_014244.5(ADAMTS2):c.641G>A (p.Arg214Gln) rs763524702
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser) rs146217716
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=) rs886060495
NM_014244.5(ADAMTS2):c.699_707GGACAGCCT[3] (p.234_236DSL[3]) rs778523767
NM_014244.5(ADAMTS2):c.709G>T (p.Asp237Tyr)
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334
NM_014244.5(ADAMTS2):c.71_73CGC[2] (p.Pro26del) rs763392299
NM_014244.5(ADAMTS2):c.71_73CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.71_73CGC[5] (p.Pro25_Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.721C>T (p.Arg241Cys)
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905
NM_014244.5(ADAMTS2):c.767G>A (p.Arg256Lys)
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857
NM_014244.5(ADAMTS2):c.789C>G (p.Asp263Glu)
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329
NM_014244.5(ADAMTS2):c.79_80insGCC (p.Leu27_Leu28insArg) rs1561778823
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1]) rs1041304220
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=)
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg) rs376856341
NM_014244.5(ADAMTS2):c.848G>A (p.Gly283Glu)
NM_014244.5(ADAMTS2):c.84_86GCC[5] (p.Pro34del) rs770212030
NM_014244.5(ADAMTS2):c.84_86GCC[8] (p.Pro33_Pro34dup) rs770212030
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile) rs148737005
NM_014244.5(ADAMTS2):c.8C>T (p.Pro3Leu) rs1407363425
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=)
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu) rs886060498
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857
NM_014244.5(ADAMTS2):c.997G>A (p.Gly333Arg) rs483352736

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