ClinVar Miner

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

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
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HGVS dbSNP
NC_000002.12:g.(?_188988081)_(188991057_?)dup
NC_000009.12:g.(?_134690892)_(134701353_?)dup
NC_000009.12:g.(?_134834951)_(134835224_?)del
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)
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.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)
NM_000089.3(COL1A2):c.2441G>A (p.Gly814Glu) rs1554397975
NM_000089.3(COL1A2):c.2719G>A (p.Gly907Ser) rs1554398251
NM_000089.3(COL1A2):c.2943+1G>C
NM_000089.3(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723
NM_000089.3(COL1A2):c.3106G>T (p.Gly1036Cys)
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.398G>T (p.Gly133Val)
NM_000089.3(COL1A2):c.433-2A>C
NM_000089.3(COL1A2):c.433-2A>G rs1554395471
NM_000089.3(COL1A2):c.595-2A>G
NM_000089.3(COL1A2):c.749G>T (p.Gly250Val)
NM_000089.3(COL1A2):c.784G>C (p.Gly262Arg) rs1554395970
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.3(COL3A1):c.1173delT (p.Pro392Leufs) rs1553507863
NM_000090.3(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
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)
NM_000090.3(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.3(COL3A1):c.1509+2T>C rs1553508039
NM_000090.3(COL3A1):c.1594G>A (p.Gly532Ser)
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.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2283+1G>A
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.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
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)
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3202G>T (p.Gly1068Cys)
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
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.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.3(COL3A1):c.4012-2A>G
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.754G>T (p.Gly252Cys) rs587779705
NM_000090.3(COL3A1):c.773G>C (p.Gly258Ala)
NM_000090.3(COL3A1):c.80-1G>C
NM_000090.3(COL3A1):c.944G>T (p.Gly315Val) rs587779487
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000093.4(COL5A1):c.2484+1G>T
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.4069-1G>T
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.4554+1G>C
NM_000093.4(COL5A1):c.5141_5143delCCT (p.Ser1714del) rs1060502250
NM_000093.4(COL5A1):c.655-1917_690del
NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000393.4(COL5A2):c.1933G>A (p.Gly645Arg)
NM_000393.4(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.4(COL5A2):c.3309+1G>A rs1553513657
NM_000393.4(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.4(COL5A2):c.369+1G>T
NM_001110556.1(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.1(FLNA):c.1061_1065delATAAG (p.His354Argfs) rs786205180
NM_001110556.1(FLNA):c.137delA (p.Gln46Argfs) rs786205181
NM_001110556.1(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.1(FLNA):c.3529delG (p.Glu1177Argfs) rs786205188
NM_001110556.1(FLNA):c.3875_3888dup (p.Val1297Thrfs) rs786205189
NM_001110556.1(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.1(FLNA):c.4006delG (p.Asp1336Thrfs) rs786205191
NM_001110556.1(FLNA):c.4617_4618delGC (p.Leu1540Alafs) rs786205194
NM_001110556.1(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.1(FLNA):c.4943delC (p.Thr1648Lysfs) rs786205198
NM_001110556.1(FLNA):c.5021_5022delTG (p.Val1674Glyfs) rs786205199
NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.1(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.1(FLNA):c.732dupC (p.Glu245Argfs) rs786205203
NM_001110556.1(FLNA):c.987+1G>A rs786205204
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001316320.1(PLOD1):c.493C>T (p.Arg165Trp) rs771186398
NM_001456.3(FLNA):c.2565+1G>A
NM_001456.3(FLNA):c.4143-1G>T rs1557177485
NM_001456.3(FLNA):c.4596_4598+5del rs1557177279
NM_001456.3(FLNA):c.5662+1G>C rs1557176315
NM_001456.3(FLNA):c.6479-2A>C rs112363874
NM_001456.3(FLNA):c.6748G>T (p.Glu2250Ter)
NM_001456.3(FLNA):c.7309+1G>A rs1557175424
NM_001733.6(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.6(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.6(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.6(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.6(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1200_1215del16insTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delTCinsAT (p.Val50Asp) rs1057519025
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.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001734.3(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)
NM_014244.4(ADAMTS2):c.1638dup (p.Lys547Terfs) rs1554125059
NM_014244.4(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.4(ADAMTS2):c.2458-6_2458del7 rs1057517277
NM_014244.4(ADAMTS2):c.3070delA (p.Arg1024Glyfs) rs1554123627
NM_019105.6(TNXB):c.6074A>T (p.Asp2025Val) rs201397168
NM_130468.3(CHST14):c.160dup (p.Ser54Lysfs)
NM_130468.3(CHST14):c.784G>A (p.Glu262Lys) rs1247205097
NM_201442.3(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974

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