ClinVar Miner

List of variants in gene COL2A1 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 201
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His) rs756155678 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_001844.5(COL2A1):c.1015G>A (p.Gly339Ser) rs2136604691
NM_001844.5(COL2A1):c.1016G>A (p.Gly339Asp) rs2136604676
NM_001844.5(COL2A1):c.1023+3_1023+6del
NM_001844.5(COL2A1):c.1034G>T (p.Gly345Val)
NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys) rs2136590405
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser)
NM_001844.5(COL2A1):c.1106G>A (p.Gly369Asp)
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) rs794727202
NM_001844.5(COL2A1):c.1122+2T>A rs1939584878
NM_001844.5(COL2A1):c.1123-1G>C rs1565684864
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) rs2136579628
NM_001844.5(COL2A1):c.1132G>C (p.Gly378Arg) rs2136579628
NM_001844.5(COL2A1):c.1142G>C (p.Gly381Ala) rs1323542030
NM_001844.5(COL2A1):c.1231G>A (p.Gly411Arg) rs2136577175
NM_001844.5(COL2A1):c.1250G>A (p.Gly417Glu)
NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg) rs867799325
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp) rs1555167449
NM_001844.5(COL2A1):c.1312G>T (p.Gly438Cys) rs2136575877
NM_001844.5(COL2A1):c.1321G>A (p.Gly441Ser)
NM_001844.5(COL2A1):c.1365+1G>A rs2136575516
NM_001844.5(COL2A1):c.1366-1G>C
NM_001844.5(COL2A1):c.1376G>C (p.Gly459Ala)
NM_001844.5(COL2A1):c.1394G>T (p.Gly465Val)
NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu) rs2136571455
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp) rs1939412490
NM_001844.5(COL2A1):c.1467C>T (p.Gly489=) rs2136571245
NM_001844.5(COL2A1):c.1475G>A (p.Gly492Asp)
NM_001844.5(COL2A1):c.1520G>C (p.Gly507Ala)
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.1555G>A (p.Gly519Ser)
NM_001844.5(COL2A1):c.1618G>A (p.Gly540Ser) rs2136567996
NM_001844.5(COL2A1):c.1681-2A>G rs2136566722
NM_001844.5(COL2A1):c.1699G>A (p.Gly567Ser) rs2136566584
NM_001844.5(COL2A1):c.1726G>A (p.Gly576Ser) rs2136566494
NM_001844.5(COL2A1):c.1735-2A>C
NM_001844.5(COL2A1):c.1763G>A (p.Gly588Glu)
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg) rs2136564199
NM_001844.5(COL2A1):c.1789G>A (p.Gly597Arg) rs2136564137
NM_001844.5(COL2A1):c.1824_1832del (p.Lys608_Ala610del) rs2136563934
NM_001844.5(COL2A1):c.1826G>C (p.Gly609Ala)
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) rs140580674
NM_001844.5(COL2A1):c.1853G>A (p.Gly618Asp) rs1480620991
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg) rs794727462
NM_001844.5(COL2A1):c.1862G>T (p.Gly621Val) rs1939281881
NM_001844.5(COL2A1):c.1870G>C (p.Gly624Arg)
NM_001844.5(COL2A1):c.1879G>A (p.Gly627Ser)
NM_001844.5(COL2A1):c.1880G>A (p.Gly627Asp) rs1939280733
NM_001844.5(COL2A1):c.1887+1G>T rs2136561510
NM_001844.5(COL2A1):c.1888-2A>G
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser) rs1555166826
NM_001844.5(COL2A1):c.1942-2A>G rs2136556938
NM_001844.5(COL2A1):c.1960G>A (p.Gly654Ser) rs1322543333
NM_001844.5(COL2A1):c.1979G>T (p.Gly660Val)
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) rs2136555177
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser) rs1939205327
NM_001844.5(COL2A1):c.2007_2015del (p.670PPG[1]) rs2136555011
NM_001844.5(COL2A1):c.2023G>C (p.Gly675Arg) rs1423422339
NM_001844.5(COL2A1):c.2033G>A (p.Gly678Glu) rs2136554879
NM_001844.5(COL2A1):c.2042G>T (p.Gly681Val) rs2136554860
NM_001844.5(COL2A1):c.2050G>C (p.Gly684Arg)
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) rs1231988113
NM_001844.5(COL2A1):c.2051G>T (p.Gly684Val) rs2136552948
NM_001844.5(COL2A1):c.2078G>A (p.Gly693Asp) rs2136552735
NM_001844.5(COL2A1):c.2103_2108dup (p.Gly702_Phe703insLeuGly)
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)
NM_001844.5(COL2A1):c.2141G>T (p.Gly714Val) rs1555166537
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser) rs1939173389
NM_001844.5(COL2A1):c.2177G>A (p.Gly726Asp)
NM_001844.5(COL2A1):c.2185G>A (p.Gly729Ser)
NM_001844.5(COL2A1):c.2194-2A>G
NM_001844.5(COL2A1):c.2222G>A (p.Gly741Glu)
NM_001844.5(COL2A1):c.2257G>A (p.Gly753Ser) rs2136549071
NM_001844.5(COL2A1):c.2267G>T (p.Gly756Val)
NM_001844.5(COL2A1):c.2355+5G>A rs1555166294
NM_001844.5(COL2A1):c.2356-16_2359del rs1939108031
NM_001844.5(COL2A1):c.2356-1G>A rs1341401004
NM_001844.5(COL2A1):c.2392G>A (p.Gly798Ser) rs2136544686
NM_001844.5(COL2A1):c.2410-1G>A rs2136542198
NM_001844.5(COL2A1):c.2428G>A (p.Gly810Ser)
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys) rs794727596
NM_001844.5(COL2A1):c.2429G>C (p.Gly810Ala)
NM_001844.5(COL2A1):c.2455G>A (p.Gly819Ser) rs2136541965
NM_001844.5(COL2A1):c.2464-1G>T
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala) rs2136539832
NM_001844.5(COL2A1):c.2500_2501delinsAA (p.Gly834Lys)
NM_001844.5(COL2A1):c.2509G>C (p.Gly837Arg) rs1939031863
NM_001844.5(COL2A1):c.2517+2T>C
NM_001844.5(COL2A1):c.2545G>T (p.Gly849Cys)
NM_001844.5(COL2A1):c.2563G>A (p.Gly855Ser)
NM_001844.5(COL2A1):c.2564G>C (p.Gly855Ala) rs2136537795
NM_001844.5(COL2A1):c.2599G>A (p.Gly867Ser)
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp)
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu) rs886041429
NM_001844.5(COL2A1):c.2627G>A (p.Gly876Asp) rs2136535158
NM_001844.5(COL2A1):c.2644G>C (p.Gly882Arg)
NM_001844.5(COL2A1):c.2672G>C (p.Gly891Ala)
NM_001844.5(COL2A1):c.2707G>A (p.Gly903Ser)
NM_001844.5(COL2A1):c.2734G>A (p.Gly912Ser)
NM_001844.5(COL2A1):c.2752G>T (p.Gly918Cys) rs1565672299
NM_001844.5(COL2A1):c.2762G>A (p.Gly921Asp) rs2136528442
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser) rs886043540
NM_001844.5(COL2A1):c.2798G>A (p.Gly933Glu) rs2136528309
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser) rs777615798
NM_001844.5(COL2A1):c.2833G>C (p.Gly945Arg)
NM_001844.5(COL2A1):c.2895+1G>A
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del) rs2136526614
NM_001844.5(COL2A1):c.2918_2926del (p.Pro973_Gly975del) rs2136526580
NM_001844.5(COL2A1):c.310-1G>A
NM_001844.5(COL2A1):c.310-2A>G
NM_001844.5(COL2A1):c.3111+1G>T
NM_001844.5(COL2A1):c.3111+2T>A
NM_001844.5(COL2A1):c.3112-2A>G
NM_001844.5(COL2A1):c.3130G>A (p.Gly1044Ser) rs2136522924
NM_001844.5(COL2A1):c.3131G>C (p.Gly1044Ala)
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) rs1555165242
NM_001844.5(COL2A1):c.3149G>T (p.Gly1050Val) rs1555165242
NM_001844.5(COL2A1):c.3166-2_3166-1del rs2136521786
NM_001844.5(COL2A1):c.3194G>A (p.Gly1065Glu)
NM_001844.5(COL2A1):c.3212G>A (p.Gly1071Glu) rs2136521542
NM_001844.5(COL2A1):c.3238G>A (p.Gly1080Ser)
NM_001844.5(COL2A1):c.3257G>A (p.Gly1086Glu) rs2136521131
NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del) rs2136521036
NM_001844.5(COL2A1):c.3266G>A (p.Gly1089Glu) rs2136521056
NM_001844.5(COL2A1):c.3274-2A>G rs2136520141
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp) rs794727684
NM_001844.5(COL2A1):c.3319G>A (p.Gly1107Arg) rs2136519756
NM_001844.5(COL2A1):c.3327+1G>A
NM_001844.5(COL2A1):c.3328-2A>G rs1938737244
NM_001844.5(COL2A1):c.3328G>C (p.Gly1110Arg) rs1938737050
NM_001844.5(COL2A1):c.3329G>C (p.Gly1110Ala) rs2136518845
NM_001844.5(COL2A1):c.3347G>A (p.Gly1116Asp)
NM_001844.5(COL2A1):c.3364G>A (p.Gly1122Arg)
NM_001844.5(COL2A1):c.3365G>A (p.Gly1122Glu) rs1592199342
NM_001844.5(COL2A1):c.3373G>A (p.Gly1125Ser)
NM_001844.5(COL2A1):c.3400G>A (p.Gly1134Ser) rs2136518300
NM_001844.5(COL2A1):c.342+2_342+7del
NM_001844.5(COL2A1):c.3435+5G>C
NM_001844.5(COL2A1):c.3436-1G>A rs2136516942
NM_001844.5(COL2A1):c.3436G>A (p.Gly1146Ser) rs2136516927
NM_001844.5(COL2A1):c.3490-2A>G rs2136514651
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp) rs1476546104
NM_001844.5(COL2A1):c.3509G>C (p.Gly1170Ala)
NM_001844.5(COL2A1):c.3527G>A (p.Gly1176Asp) rs1592197752
NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg) rs121912870
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_001844.5(COL2A1):c.3598-2A>G rs2136512643
NM_001844.5(COL2A1):c.375+2T>A
NM_001844.5(COL2A1):c.376-1G>C rs1940039533
NM_001844.5(COL2A1):c.3897G>C (p.Trp1299Cys)
NM_001844.5(COL2A1):c.3913G>A (p.Gly1305Ser)
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala) rs121912887
NM_001844.5(COL2A1):c.3969C>G (p.Cys1323Trp)
NM_001844.5(COL2A1):c.4075-1G>T rs2136506437
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) rs121912889
NM_001844.5(COL2A1):c.429+1G>C
NM_001844.5(COL2A1):c.430-1G>A rs2136626600
NM_001844.5(COL2A1):c.430-2A>T
NM_001844.5(COL2A1):c.430-7T>A rs2136626631
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) rs1565664095
NM_001844.5(COL2A1):c.4455CTT[1] (p.Phe1486del)
NM_001844.5(COL2A1):c.542C>T (p.Ala181Val) rs2136622365
NM_001844.5(COL2A1):c.610G>C (p.Gly204Arg) rs2136619174
NM_001844.5(COL2A1):c.611G>A (p.Gly204Asp)
NM_001844.5(COL2A1):c.628G>A (p.Gly210Arg)
NM_001844.5(COL2A1):c.646G>T (p.Gly216Cys)
NM_001844.5(COL2A1):c.655-2A>C rs2136618395
NM_001844.5(COL2A1):c.683G>A (p.Gly228Asp) rs2136618285
NM_001844.5(COL2A1):c.686AACCTGGTG[1] (p.229EPG[1])
NM_001844.5(COL2A1):c.701G>A (p.Gly234Asp)
NM_001844.5(COL2A1):c.708+2_708+3del rs2136618158
NM_001844.5(COL2A1):c.728G>T (p.Gly243Val) rs2136616399
NM_001844.5(COL2A1):c.733_753del (p.Pro245_Pro251del) rs2136616143
NM_001844.5(COL2A1):c.762+5G>A
NM_001844.5(COL2A1):c.763G>A (p.Gly255Ser) rs2136612683
NM_001844.5(COL2A1):c.817-1G>C
NM_001844.5(COL2A1):c.817-2A>C rs2136610697
NM_001844.5(COL2A1):c.827G>A (p.Gly276Asp)
NM_001844.5(COL2A1):c.835G>A (p.Gly279Arg)
NM_001844.5(COL2A1):c.86-1G>A
NM_001844.5(COL2A1):c.86-1G>C
NM_001844.5(COL2A1):c.863G>A (p.Gly288Asp)
NM_001844.5(COL2A1):c.871-2del
NM_001844.5(COL2A1):c.872G>T (p.Gly291Val)
NM_001844.5(COL2A1):c.881G>T (p.Gly294Val)
NM_001844.5(COL2A1):c.889G>A (p.Gly297Ser)
NM_001844.5(COL2A1):c.890G>A (p.Gly297Asp)
NM_001844.5(COL2A1):c.899G>A (p.Gly300Glu)
NM_001844.5(COL2A1):c.908G>T (p.Gly303Val)
NM_001844.5(COL2A1):c.924+2T>G
NM_001844.5(COL2A1):c.926G>A (p.Gly309Asp) rs2136608011
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894
NM_001844.5(COL2A1):c.970-1G>A
NM_001844.5(COL2A1):c.970-2A>G
NM_001844.5(COL2A1):c.988G>A (p.Gly330Ser) rs2136604937
NM_001844.5(COL2A1):c.997G>A (p.Gly333Arg)
NM_001844.5(COL2A1):c.997G>C (p.Gly333Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.