ClinVar Miner

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

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP
NC_000001.11:g.(?_11960646)_(11960767_?)del
NC_000002.12:g.(?_188974470)_(189580480_?)del
NC_000007.14:g.(?_94395012)_(94395818_?)del
NC_000007.14:g.(?_94395012)_(94399104_?)del
NC_000007.14:g.(?_94407827)_(94408400_?)dup
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134701171)_(134835204_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
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)
NM_000089.3(COL1A2):c.1324G>A (p.Gly442Arg) rs1554396361
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.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.3(COL1A2):c.2521G>A (p.Gly841Ser)
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.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.3(COL1A2):c.389G>A (p.Gly130Asp) rs72656360
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.638_639+6delCAGTAAGT
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.982G>A (p.Gly328Ser) rs66612022
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.134G>A (p.Trp45Ter)
NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu)
NM_000090.3(COL3A1):c.1610delG (p.Gly537Alafs) rs587779702
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1652delC (p.Pro551Glnfs) rs1060500199
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter)
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) rs587779429
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.2392-3_2395del
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) rs587779664
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter)
NM_000090.3(COL3A1):c.2828delC (p.Ala943Valfs) rs1553509208
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.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
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.608delC (p.Pro203Leufs) 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.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.3(COL3A1):c.81delT (p.Val28Leufs) rs1060500200
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.976C>T (p.Arg326Ter) rs587779607
NM_000093.4(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_000093.4(COL5A1):c.1364delA (p.Lys455Argfs)
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.4(COL5A1):c.2034+1G>A rs886042173
NM_000093.4(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.4(COL5A1):c.2164C>T (p.Gln722Ter)
NM_000093.4(COL5A1):c.228_229delAG (p.Arg76Serfs) rs1060502242
NM_000093.4(COL5A1):c.2389delG (p.Ala797Profs)
NM_000093.4(COL5A1):c.2430+1G>A rs1060502248
NM_000093.4(COL5A1):c.2565delC (p.Gly856Valfs)
NM_000093.4(COL5A1):c.2701-25T>G rs765079080
NM_000093.4(COL5A1):c.2897delC (p.Pro966Leufs) rs1179967153
NM_000093.4(COL5A1):c.2988delC (p.Gly997Alafs) rs764693725
NM_000093.4(COL5A1):c.3309_3325dup (p.Pro1109Leufs)
NM_000093.4(COL5A1):c.3684delG (p.Leu1229Cysfs)
NM_000093.4(COL5A1):c.3746delG (p.Gly1249Alafs)
NM_000093.4(COL5A1):c.3752dup (p.Pro1253Serfs) rs786205100
NM_000093.4(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.4(COL5A1):c.4126dup (p.Ser1376Phefs) rs1131691820
NM_000093.4(COL5A1):c.4203delA (p.Gly1402Alafs) rs1060502255
NM_000093.4(COL5A1):c.4232delG (p.Gly1411Glufs) rs1060502259
NM_000093.4(COL5A1):c.4656_4660delCCCGA (p.Pro1553Glyfs) rs1554807812
NM_000093.4(COL5A1):c.4909delC (p.Arg1637Alafs)
NM_000093.4(COL5A1):c.5299delC (p.Leu1767Trpfs) rs1554726279
NM_000302.3(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000393.4(COL5A2):c.1924-4C>G
NM_001110556.1(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.1(FLNA):c.999_1008dup (p.Asp337Argfs) rs1557179357
NM_001278074.1(COL5A1):c.2988dup (p.Gly997Argfs) rs764693725
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622
NM_001456.3(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001456.3(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001456.3(FLNA):c.3814delC (p.Arg1272Valfs) rs1557177636
NM_001456.3(FLNA):c.3865G>T (p.Gly1289Ter)
NM_001456.3(FLNA):c.4840_4852delGGTCGCTACACCA (p.Gly1614Serfs) rs1557177086
NM_001456.3(FLNA):c.5619delC (p.Asn1873Lysfs)
NM_001456.3(FLNA):c.5964_5965delCT (p.Cys1989Phefs) rs1060500718
NM_001456.3(FLNA):c.6700C>T (p.Arg2234Ter) rs1060500717
NM_001456.3(FLNA):c.676C>T (p.Arg226Ter)
NM_014244.4(ADAMTS2):c.3088C>T (p.Arg1030Ter)
NM_017946.3(FKBP14):c.156T>A (p.Tyr52Ter)
NM_017946.3(FKBP14):c.362dupC (p.Glu122Argfs) rs542489955

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