ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by Invitae

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 254
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_12020693)_(12027158_?)dup
NC_000001.11:g.(?_11949763)_(11952745_?)del
NC_000001.11:g.(?_11960646)_(11960767_?)del
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.12:g.(?_188974470)_(189580480_?)del
NC_000002.12:g.(?_188974480)_(189580648_?)del
NC_000005.10:g.(?_179272901)_(179273074_?)del
NC_000005.10:g.179207713del
NC_000007.13:g.(?_94037139)_(94037712_?)dup
NC_000007.13:g.(?_94037139)_(94038155_?)dup
NC_000007.14:g.(?_94395012)_(94395818_?)del
NC_000007.14:g.(?_94395012)_(94399104_?)del
NC_000009.12:g.(?_134642178)_(134701343_?)del
NC_000009.12:g.(?_134642178)_(134768473_?)del
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134690902)_(134727407_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134701171)_(134835204_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
NC_000009.12:g.(?_134782657)_(134842313_?)del
NC_000009.12:g.134785996dup
NC_000023.10:g.(?_153576900)_(153599729_?)del
NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.3(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.3(COL1A2):c.1324G>A (p.Gly442Arg) rs1554396361
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.3(COL1A2):c.1378G>A (p.Gly460Ser) rs72658118
NM_000089.3(COL1A2):c.1478G>A (p.Gly493Glu) rs72658121
NM_000089.3(COL1A2):c.1513G>A (p.Gly505Ser) rs1554396679
NM_000089.3(COL1A2):c.1666G>T (p.Gly556Cys) rs1554396832
NM_000089.3(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.3(COL1A2):c.1892G>T (p.Gly631Val) rs1584324507
NM_000089.3(COL1A2):c.2098G>C (p.Gly700Arg) rs72658160
NM_000089.3(COL1A2):c.2098G>T (p.Gly700Cys) rs72658160
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.3(COL1A2):c.2521G>A (p.Gly841Ser) rs72658194
NM_000089.3(COL1A2):c.2565+1G>A rs72658198
NM_000089.3(COL1A2):c.2756G>A (p.Gly919Asp) rs1554398261
NM_000089.3(COL1A2):c.279+2T>C rs72656357
NM_000089.3(COL1A2):c.279G>A (p.Met93Ile) rs72656356
NM_000089.3(COL1A2):c.2835+1G>A rs72659310
NM_000089.3(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723
NM_000089.3(COL1A2):c.389G>A (p.Gly130Asp) rs72656360
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.3(COL1A2):c.586G>A (p.Gly196Ser) rs1057517953
NM_000089.3(COL1A2):c.638_639+6del rs1562900123
NM_000089.3(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser) rs72656387
NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser) rs906553840
NM_000089.3(COL1A2):c.920G>A (p.Gly307Asp) rs72656390
NM_000089.3(COL1A2):c.946G>A (p.Gly316Ser) rs72656392
NM_000089.3(COL1A2):c.956G>A (p.Gly319Glu) rs1554396083
NM_000089.3(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)
NM_000089.4(COL1A2):c.2565+1G>C
NM_000089.4(COL1A2):c.2565+3_2565+6del rs1584328061
NM_000089.4(COL1A2):c.2674-3T>G
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser)
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp)
NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg)
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)
NM_000089.4(COL1A2):c.432+1G>T
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.3(COL3A1):c.1610delG rs587779702
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter) rs375737772
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp) rs587779477
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del) rs587779600
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) rs397509376
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) rs587779429
NM_000090.3(COL3A1):c.2051G>A (p.Gly684Glu) rs587779587
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.3(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.3(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.3(COL3A1):c.2887G>C (p.Gly963Arg) rs587779640
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.3(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.3(COL3A1):c.3255+1G>C rs587779480
NM_000090.3(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.3(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.3(COL3A1):c.4011+1G>T rs112532745
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.3(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688
NM_000090.3(COL3A1):c.691-2A>G rs1576463100
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.3(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser) rs1576463632
NM_000090.3(COL3A1):c.845G>T (p.Gly282Val) rs1576463663
NM_000090.3(COL3A1):c.937_938dup (p.Pro314fs) rs772827388
NM_000090.3(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.4(COL3A1):c.1442del (p.Ala481fs)
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg)
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val)
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser)
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs)
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs)
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs)
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter)
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
NM_000093.5(COL5A1):c.1989+1G>C
NM_000093.5(COL5A1):c.2159del (p.Pro720fs)
NM_000093.5(COL5A1):c.2553del (p.Asn852fs)
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)
NM_000093.5(COL5A1):c.2660del (p.Phe887fs) rs1588551159
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs)
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs)
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs)
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter)
NM_000093.5(COL5A1):c.876dup (p.Ser293fs)
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter) rs1569713366
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1772del (p.Gly591fs)
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) rs1439043436
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282
NM_000393.5(COL5A2):c.1924-4C>G rs1559085578
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.690+5G>T rs1576517517
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
NM_001110556.2(FLNA):c.2452del (p.Ala818fs) rs1603361851
NM_001110556.2(FLNA):c.2565+1G>A rs786205186
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) rs1603361195
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) rs1603359464
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.6586del (p.His2196fs)
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) rs1060500717
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) rs782308324
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) rs1603358246
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357
NM_001278074.1(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_001278074.1(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_001278074.1(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_001278074.1(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_001278074.1(COL5A1):c.2034+1G>A rs886042173
NM_001278074.1(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_001278074.1(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_001278074.1(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_001278074.1(COL5A1):c.226_227AG[1] (p.Arg76fs) rs1060502242
NM_001278074.1(COL5A1):c.2425G>T (p.Glu809Ter) rs1032017865
NM_001278074.1(COL5A1):c.2430+1G>A rs1060502248
NM_001278074.1(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_001278074.1(COL5A1):c.2701-25T>G rs765079080
NM_001278074.1(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_001278074.1(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_001278074.1(COL5A1):c.2952+2_2952+3del rs1588562135
NM_001278074.1(COL5A1):c.297_304dup (p.Ile102fs) rs1588448655
NM_001278074.1(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_001278074.1(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_001278074.1(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_001278074.1(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622
NM_001278074.1(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_001278074.1(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_001278074.1(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_001278074.1(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_001278074.1(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_001278074.1(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_001278074.1(COL5A1):c.4545_4549dup (p.Glu1517fs) rs1588589663
NM_001278074.1(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_001278074.1(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_001278074.1(COL5A1):c.4927C>T (p.Gln1643Ter) rs1219304070
NM_001278074.1(COL5A1):c.494G>A (p.Trp165Ter) rs1588449879
NM_001278074.1(COL5A1):c.5155G>T (p.Glu1719Ter) rs776640704
NM_001278074.1(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_001278074.1(COL5A1):c.5336_5337delinsG (p.Asn1779fs) rs1588615658
NM_014244.5(ADAMTS2):c.1513dup (p.Ala505fs)
NM_014244.5(ADAMTS2):c.2385G>A (p.Trp795Ter)
NM_014244.5(ADAMTS2):c.2927del (p.Pro976fs)
NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter) rs966437723
NM_014244.5(ADAMTS2):c.32del (p.Leu11fs) rs1581302068
NM_014244.5(ADAMTS2):c.55del (p.Leu19fs)
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146
NM_014244.5(ADAMTS2):c.842dup (p.His282fs)
NM_017946.4(FKBP14):c.156T>A (p.Tyr52Ter) rs1562840744
NM_017946.4(FKBP14):c.32_33CT[1] (p.Leu12fs) rs1583738732
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_130468.3(CHST14):c.527_530delinsGACAG (p.Val176fs) rs1595869467

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