ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
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HGVS dbSNP
NC_000002.11:g.(?_189852807)_(189855783_?)dup
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.12:g.(?_134834951)_(134835224_?)del
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000089.3(COL1A2):c.1045G>T (p.Gly349Cys) rs66773001
NM_000089.3(COL1A2):c.1208G>T (p.Gly403Val) rs1554396271
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.3(COL1A2):c.1477G>C (p.Gly493Arg) rs1554396612
NM_000089.3(COL1A2):c.1503+1G>C rs1554396615
NM_000089.3(COL1A2):c.1514G>C (p.Gly505Ala) rs1554396680
NM_000089.3(COL1A2):c.1522G>A (p.Gly508Ser) rs769600024
NM_000089.3(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.3(COL1A2):c.1748G>C (p.Gly583Ala) rs1554396983
NM_000089.3(COL1A2):c.2133+6T>A rs72658164
NM_000089.3(COL1A2):c.2242G>A (p.Gly748Ser) rs1562905246
NM_000089.3(COL1A2):c.2278G>A (p.Gly760Arg) rs1584326393
NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000089.3(COL1A2):c.2441G>A (p.Gly814Glu) rs1554397975
NM_000089.3(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235
NM_000089.3(COL1A2):c.2719G>A (p.Gly907Ser) rs1554398251
NM_000089.3(COL1A2):c.2943+1G>C rs1562907190
NM_000089.3(COL1A2):c.299G>T (p.Gly100Val) rs1584315950
NM_000089.3(COL1A2):c.3106G>T (p.Gly1036Cys) rs72659325
NM_000089.3(COL1A2):c.3260G>T (p.Gly1087Val) rs72659335
NM_000089.3(COL1A2):c.334G>A (p.Gly112Ser) rs1554395411
NM_000089.3(COL1A2):c.3495C>G (p.Asp1165Glu) rs72659340
NM_000089.3(COL1A2):c.398G>T (p.Gly133Val) rs1562899031
NM_000089.3(COL1A2):c.433-2A>C rs1554395471
NM_000089.3(COL1A2):c.433-2A>G rs1554395471
NM_000089.3(COL1A2):c.595-2A>G rs72656375
NM_000089.3(COL1A2):c.731G>A (p.Gly244Asp) rs1584318303
NM_000089.3(COL1A2):c.749G>T (p.Gly250Val) rs1562900513
NM_000089.3(COL1A2):c.784G>C (p.Gly262Arg) rs1554395970
NM_000089.4(COL1A2):c.1391_1393AAG[1] (p.Glu465del)
NM_000089.4(COL1A2):c.1503+1G>A
NM_000089.4(COL1A2):c.1764+1G>T
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser) rs1584325552
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp) rs1584329740
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)
NM_000089.4(COL1A2):c.432+4_432+7del rs72656363
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val) rs1584318648
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del) rs1584318956
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)
NM_000090.3(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.3(COL3A1):c.1173del (p.Pro392fs) rs1553507863
NM_000090.3(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.3(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.3(COL3A1):c.1294-1G>C rs1060500204
NM_000090.3(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.3(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.3(COL3A1):c.1708G>A (p.Gly570Ser) rs1553508238
NM_000090.3(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla) rs1576467133
NM_000090.3(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.3(COL3A1):c.2042G>A (p.Gly681Asp) rs1173194734
NM_000090.3(COL3A1):c.2067_2072del (p.Gly690_Ala691del) rs1576468160
NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2159G>A (p.Gly720Asp) rs1576468332
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2229+1G>A rs1576468385
NM_000090.3(COL3A1):c.2283+1G>A rs1559058970
NM_000090.3(COL3A1):c.2312G>A (p.Gly771Asp) rs1060500193
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.2762G>A (p.Gly921Glu) rs1553509187
NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser) rs587779567
NM_000090.3(COL3A1):c.2843G>A (p.Gly948Glu) rs878853651
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.3(COL3A1):c.3094-10_3094delinsGT rs1559061674
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.3(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3266G>T (p.Gly1089Val) rs587779672
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del) rs1576472890
NM_000090.3(COL3A1):c.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.3(COL3A1):c.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.3(COL3A1):c.3823+1G>T rs1576473641
NM_000090.3(COL3A1):c.4012-2A>G rs1559063681
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.4096C>T (p.Gln1366Ter) rs863224860
NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.583G>A (p.Gly195Arg)
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
NM_000090.3(COL3A1):c.721G>A (p.Glu241Lys) rs1553507432
NM_000090.3(COL3A1):c.773G>C (p.Gly258Ala) rs1559054653
NM_000090.3(COL3A1):c.80-1G>C rs1559052551
NM_000090.3(COL3A1):c.827G>T (p.Gly276Val) rs587779644
NM_000090.3(COL3A1):c.852+2T>C rs201314784
NM_000090.3(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.3(COL3A1):c.944G>T (p.Gly315Val) rs587779487
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp)
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg)
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
NM_000090.4(COL3A1):c.1322del (p.Gly441fs)
NM_000090.4(COL3A1):c.1509+2T>C rs1553508039
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp)
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val)
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser)
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp)
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp)
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp)
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg)
NM_000090.4(COL3A1):c.2823+1G>T
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg)
NM_000090.4(COL3A1):c.3256-1G>A
NM_000090.4(COL3A1):c.334-2A>G
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu)
NM_000090.4(COL3A1):c.448-1G>T
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys)
NM_000093.5(COL5A1):c.110-1G>C
NM_000093.5(COL5A1):c.1662+1G>A
NM_000093.5(COL5A1):c.1720-1G>A
NM_000093.5(COL5A1):c.3114+1G>A
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)
NM_000093.5(COL5A1):c.4476_4478TCC[1] (p.Pro1494del)
NM_000093.5(COL5A1):c.5067+1G>A
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.4(PLOD1):c.1329-1G>T rs112460511
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1977+1G>A rs1576502045
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.3147+1G>A
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) rs786205180
NM_001110556.2(FLNA):c.1065+1G>T
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) rs782121971
NM_001110556.2(FLNA):c.137del (p.Gln46fs) rs786205181
NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.2(FLNA):c.2827-2A>C
NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) rs786205188
NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) rs786205189
NM_001110556.2(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) rs786205191
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) rs786205194
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) rs786205198
NM_001110556.2(FLNA):c.5019_5020TG[1] (p.Val1674fs) rs786205199
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.6503-2A>C rs112363874
NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter) rs1569551449
NM_001110556.2(FLNA):c.732dup (p.Glu245fs) rs786205203
NM_001110556.2(FLNA):c.7333+1G>A rs1557175424
NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del)
NM_001110556.2(FLNA):c.987+1G>A rs786205204
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001278074.1(COL5A1):c.2386-3C>G rs1564453831
NM_001278074.1(COL5A1):c.2484+1G>T rs1564455577
NM_001278074.1(COL5A1):c.2700+2T>C rs1588551226
NM_001278074.1(COL5A1):c.3529-1G>T rs1588577214
NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_001278074.1(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_001278074.1(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_001278074.1(COL5A1):c.4069-1G>T rs1564478485
NM_001278074.1(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_001278074.1(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_001278074.1(COL5A1):c.4554+1G>C rs1564482508
NM_001278074.1(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_001278074.1(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_001278074.1(COL5A1):c.655-1917_690del
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.265T>C (p.Cys89Arg)
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) rs1564161224
NM_014244.5(ADAMTS2):c.1383-2A>G
NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter) rs1554125059
NM_014244.5(ADAMTS2):c.2085+1G>T
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.5(ADAMTS2):c.2458-2A>G
NM_014244.5(ADAMTS2):c.2458-6_2458del rs1057517277
NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs) rs1554123627
NM_017946.4(FKBP14):c.197+1G>A
NM_017946.4(FKBP14):c.207_208del (p.His69fs) rs1583734485
NM_130468.3(CHST14):c.160dup (p.Ser54fs) rs1566969054
NM_130468.3(CHST14):c.784G>A (p.Glu262Lys) rs1247205097

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