ClinVar Miner

List of variants in gene COL1A2 reported as likely pathogenic for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
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) 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.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)

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