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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 124

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.647G>A (p.Arg216His)	rs756743425	0.00002
NM_000089.4(COL1A2):c.1404+1G>A	rs67162110	0.00001
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)	rs769600024	0.00001
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)	rs928361235	0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)	rs72659306	0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)	rs1410254723	0.00001
NM_000089.4(COL1A2):c.1018G>A (p.Gly340Ser)	rs67180473
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)	rs1064796419
NM_000089.4(COL1A2):c.1089+1G>A
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)	rs121912912
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val)	rs1554396271
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	rs1584320605
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del)	rs1791941199
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)	rs755058199
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg)	rs1554396612
NM_000089.4(COL1A2):c.1503+1G>A	rs1554396615
NM_000089.4(COL1A2):c.1503+1G>C	rs1554396615
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)	rs121912910
NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala)	rs1554396680
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	rs72658129
NM_000089.4(COL1A2):c.1764+1G>T	rs72658140
NM_000089.4(COL1A2):c.1765-2del
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)
NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp)	rs72658142
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala)	rs72658142
NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp)	rs2115917059
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)	rs1792043985
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)	rs1792044352
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)	rs2115917195
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu)	rs2115917306
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)	rs193922162
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala)	rs72658145
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)
NM_000089.4(COL1A2):c.2011del (p.Arg671fs)	rs2115924490
NM_000089.4(COL1A2):c.2026-2A>G
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)	rs1584325552
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala)	rs2115927860
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)	rs1792108068
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser)	rs121912908
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)
NM_000089.4(COL1A2):c.2198G>C (p.Gly733Ala)	rs2115931844
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser)	rs1562905246
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)	rs1792140624
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	rs72658185
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)	rs72658185
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)	rs1792148801
NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala)	rs2115933783
NM_000089.4(COL1A2):c.2402_2403insA (p.Gly802fs)
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)	rs1562906013
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro)
NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu)	rs1554397975
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp)	rs2115941022
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)	rs1305819869
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
NM_000089.4(COL1A2):c.280-2A>G	rs2115874899
NM_000089.4(COL1A2):c.280-2del
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp)	rs1584329740
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)
NM_000089.4(COL1A2):c.2943+1G>C	rs1562907190
NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser)	rs2115953343
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)	rs1554398396
NM_000089.4(COL1A2):c.299G>A (p.Gly100Asp)
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val)	rs1584315950
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)	rs72659325
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala)	rs2115957255
NM_000089.4(COL1A2):c.3159+1G>A
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu)	rs2115875189
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)	rs1792298693
NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val)	rs72659335
NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser)	rs1554395411
NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys)	rs2115959866
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)	rs2115962248
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del)	rs2115962258
NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro)	rs759477389
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)	rs1792353123
NM_000089.4(COL1A2):c.3951C>A (p.Cys1317Ter)
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)	rs2115969692
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val)	rs1562899031
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)
NM_000089.4(COL1A2):c.432+2T>A	rs2115876295
NM_000089.4(COL1A2):c.433-2A>G	rs1554395471
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)
NM_000089.4(COL1A2):c.486+2T>G	rs2115877489
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg)	rs2115879081
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val)	rs768263997
NM_000089.4(COL1A2):c.538_540+11del
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)	rs1791793058
NM_000089.4(COL1A2):c.595-2A>G	rs72656375
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val)	rs72656377
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)	rs193922173
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val)	rs1584318303
NM_000089.4(COL1A2):c.739G>A (p.Gly247Ser)
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val)	rs1562900513
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)	rs1584318648
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val)	rs1584318648
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)	rs1554395970
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)	rs1791858238
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn)	rs2115890442
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del)	rs1584318956
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)

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