ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137726797)_(137727070_?)del
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.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)
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)
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 rs1562907190
NM_000089.3(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723
NM_000089.3(COL1A2):c.299G>T (p.Gly100Val)
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.3495C>G (p.Asp1165Glu)
NM_000089.3(COL1A2):c.398G>T (p.Gly133Val) rs1562899031
NM_000089.3(COL1A2):c.432+4_432+7delAGTA rs72656363
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
NM_000089.3(COL1A2):c.731G>A (p.Gly244Asp)
NM_000089.3(COL1A2):c.749G>T (p.Gly250Val) rs1562900513
NM_000089.3(COL1A2):c.784G>C (p.Gly262Arg) rs1554395970
NM_000093.4(COL5A1):c.2386-3C>G rs1564453831
NM_000093.4(COL5A1):c.2484+1G>T rs1564455577
NM_000093.4(COL5A1):c.2700+2T>C
NM_000093.4(COL5A1):c.3529-1G>T
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.4069-1G>T rs1564478485
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.4(COL5A1):c.4554+1G>C rs1564482508
NM_000093.4(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_000093.4(COL5A1):c.5204G>A (p.Ser1735Asn)
NM_000093.4(COL5A1):c.655-1917_690del
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1977+1G>A
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) rs1564161224

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