ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 480
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser) rs41317144 0.00017
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp) rs148802548 0.00013
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met) rs765448220 0.00011
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp) rs1014550811 0.00011
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His) rs147063981 0.00010
NM_000089.4(COL1A2):c.2275G>A (p.Val759Ile) rs200501072 0.00009
NM_000089.4(COL1A2):c.2500G>A (p.Val834Ile) rs150993338 0.00009
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His) rs140368271 0.00009
NM_000089.4(COL1A2):c.3077A>G (p.Asn1026Ser) rs369457688 0.00009
NM_000089.4(COL1A2):c.395G>A (p.Arg132His) rs372678526 0.00009
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) rs773985005 0.00008
NM_000089.4(COL1A2):c.2968G>T (p.Ala990Ser) rs367848162 0.00008
NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile) rs777501717 0.00008
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu) rs149858889 0.00007
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met) rs374878685 0.00006
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His) rs1800240 0.00006
NM_000089.4(COL1A2):c.2527G>A (p.Ala843Thr) rs112697991 0.00006
NM_000089.4(COL1A2):c.2642A>C (p.Glu881Ala) rs751201659 0.00006
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His) rs201168934 0.00006
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630 0.00006
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779 0.00006
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg) rs200278401 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile) rs142803502 0.00006
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His) rs764780528 0.00005
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala) rs760732696 0.00005
NM_000089.4(COL1A2):c.3691A>G (p.Thr1231Ala) rs201560619 0.00005
NM_000089.4(COL1A2):c.382C>T (p.Pro128Ser) rs774774401 0.00005
NM_000089.4(COL1A2):c.3938T>C (p.Leu1313Pro) rs780400987 0.00005
NM_000089.4(COL1A2):c.701G>A (p.Arg234His) rs376341785 0.00005
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740 0.00004
NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg) rs368447157 0.00004
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000089.4(COL1A2):c.1448C>A (p.Ala483Asp) rs414408 0.00004
NM_000089.4(COL1A2):c.220G>A (p.Gly74Ser) rs776365460 0.00004
NM_000089.4(COL1A2):c.2813G>A (p.Arg938His) rs746504964 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val) rs746794922 0.00004
NM_000089.4(COL1A2):c.3473A>C (p.Asn1158Thr) rs1034555044 0.00004
NM_000089.4(COL1A2):c.3647G>T (p.Trp1216Leu) rs1023594853 0.00004
NM_000089.4(COL1A2):c.378+6T>C rs752336890 0.00004
NM_000089.4(COL1A2):c.3835A>G (p.Met1279Val) rs775850964 0.00004
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser) rs193922170 0.00004
NM_000089.4(COL1A2):c.644C>T (p.Ala215Val) rs753438416 0.00004
NM_000089.4(COL1A2):c.727G>A (p.Val243Met) rs764373659 0.00004
NM_000089.4(COL1A2):c.980G>A (p.Arg327His) rs764174111 0.00004
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile) rs770497661 0.00003
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln) rs200231086 0.00003
NM_000089.4(COL1A2):c.1556G>A (p.Arg519Gln) rs201768205 0.00003
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr) rs41317153 0.00003
NM_000089.4(COL1A2):c.1804C>T (p.Pro602Ser) rs906800567 0.00003
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517 0.00003
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp) rs759251034 0.00003
NM_000089.4(COL1A2):c.2489G>A (p.Arg830Gln) rs768513176 0.00003
NM_000089.4(COL1A2):c.2644C>T (p.Arg882Cys) rs1204085246 0.00003
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser) rs779303344 0.00003
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His) rs200357942 0.00003
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln) rs751898427 0.00003
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504 0.00003
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys) rs1206388800 0.00003
NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser) rs201463779 0.00002
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu) rs772238510 0.00002
NM_000089.4(COL1A2):c.1404+4A>C rs369907691 0.00002
NM_000089.4(COL1A2):c.1976A>G (p.Glu659Gly) rs766488808 0.00002
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His) rs754443174 0.00002
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His) rs746187799 0.00002
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile) rs752207083 0.00002
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn) rs779934676 0.00002
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His) rs764327381 0.00002
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn) rs754149044 0.00002
NM_000089.4(COL1A2):c.4012C>T (p.Arg1338Cys) rs781721538 0.00002
NM_000089.4(COL1A2):c.4013G>A (p.Arg1338His) rs748714040 0.00002
NM_000089.4(COL1A2):c.430G>A (p.Asp144Asn) rs981008420 0.00002
NM_000089.4(COL1A2):c.670C>A (p.Arg224Ser) rs763047559 0.00002
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr) rs141075408 0.00002
NM_000089.4(COL1A2):c.1006G>T (p.Ala336Ser) rs757569298 0.00001
NM_000089.4(COL1A2):c.1015A>G (p.Thr339Ala) rs374718116 0.00001
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser) rs755584404 0.00001
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=) rs748961276 0.00001
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro) rs972825197 0.00001
NM_000089.4(COL1A2):c.1168G>C (p.Ala390Pro) rs763560185 0.00001
NM_000089.4(COL1A2):c.1195A>G (p.Arg399Gly) rs1213766484 0.00001
NM_000089.4(COL1A2):c.1214G>A (p.Arg405His) rs368702549 0.00001
NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys) rs769457034 0.00001
NM_000089.4(COL1A2):c.1267C>T (p.Arg423Cys) rs1270445631 0.00001
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys) rs754825427 0.00001
NM_000089.4(COL1A2):c.1319G>A (p.Arg440His) rs141677005 0.00001
NM_000089.4(COL1A2):c.132+3G>A rs1262984429 0.00001
NM_000089.4(COL1A2):c.133-15C>G rs992330364 0.00001
NM_000089.4(COL1A2):c.1354C>T (p.Leu452Phe) rs780096548 0.00001
NM_000089.4(COL1A2):c.1404C>T (p.Val468=) rs773852385 0.00001
NM_000089.4(COL1A2):c.1412C>T (p.Pro471Leu) rs760503549 0.00001
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr) rs568201784 0.00001
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln) rs1037367793 0.00001
NM_000089.4(COL1A2):c.1573G>T (p.Asp525Tyr) rs147074348 0.00001
NM_000089.4(COL1A2):c.1607C>T (p.Pro536Leu) rs1456907715 0.00001
NM_000089.4(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362 0.00001
NM_000089.4(COL1A2):c.1780C>G (p.Pro594Ala) rs1396856908 0.00001
NM_000089.4(COL1A2):c.1817T>C (p.Ile606Thr) rs757262502 0.00001
NM_000089.4(COL1A2):c.1844C>T (p.Pro615Leu) rs780264582 0.00001
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly) rs766541995 0.00001
NM_000089.4(COL1A2):c.1930G>A (p.Glu644Lys) rs143178652 0.00001
NM_000089.4(COL1A2):c.1971+5G>A rs375027186 0.00001
NM_000089.4(COL1A2):c.1971+6T>C rs1345215762 0.00001
NM_000089.4(COL1A2):c.2023C>T (p.Arg675Cys) rs778295967 0.00001
NM_000089.4(COL1A2):c.2050C>T (p.Pro684Ser) rs747954056 0.00001
NM_000089.4(COL1A2):c.2077C>T (p.Arg693Trp) rs1342960126 0.00001
NM_000089.4(COL1A2):c.2079+3A>G rs1226079110 0.00001
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys) rs770271259 0.00001
NM_000089.4(COL1A2):c.2141G>A (p.Arg714His) rs773392397 0.00001
NM_000089.4(COL1A2):c.2200C>G (p.Gln734Glu) rs774919512 0.00001
NM_000089.4(COL1A2):c.2255T>G (p.Val752Gly) rs1205884799 0.00001
NM_000089.4(COL1A2):c.2312C>T (p.Pro771Leu) rs569241110 0.00001
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro) rs774233882 0.00001
NM_000089.4(COL1A2):c.2372C>T (p.Ala791Val) rs1208084157 0.00001
NM_000089.4(COL1A2):c.2506G>A (p.Ala836Thr) rs759738995 0.00001
NM_000089.4(COL1A2):c.256G>C (p.Val86Leu) rs777971816 0.00001
NM_000089.4(COL1A2):c.2663C>G (p.Ala888Gly) rs752453618 0.00001
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr) rs1245765830 0.00001
NM_000089.4(COL1A2):c.2732C>G (p.Ala911Gly) rs374901613 0.00001
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His) rs200331961 0.00001
NM_000089.4(COL1A2):c.2797G>A (p.Asp933Asn) rs779358259 0.00001
NM_000089.4(COL1A2):c.2806C>G (p.Pro936Ala) rs1020235088 0.00001
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn) rs776169837 0.00001
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys) rs1026230498 0.00001
NM_000089.4(COL1A2):c.2887C>T (p.Pro963Ser) rs760780128 0.00001
NM_000089.4(COL1A2):c.292C>T (p.Pro98Ser) rs765868569 0.00001
NM_000089.4(COL1A2):c.2932C>T (p.Arg978Cys) rs145633247 0.00001
NM_000089.4(COL1A2):c.2944-3C>T rs1408725826 0.00001
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu) rs1204582322 0.00001
NM_000089.4(COL1A2):c.3140T>G (p.Val1047Gly) rs1033662953 0.00001
NM_000089.4(COL1A2):c.323C>G (p.Pro108Arg) rs1791756508 0.00001
NM_000089.4(COL1A2):c.329C>T (p.Pro110Leu) rs770180852 0.00001
NM_000089.4(COL1A2):c.3311G>A (p.Ser1104Asn) rs771438684 0.00001
NM_000089.4(COL1A2):c.3346T>C (p.Phe1116Leu) rs1368149627 0.00001
NM_000089.4(COL1A2):c.3404T>C (p.Val1135Ala) rs779411376 0.00001
NM_000089.4(COL1A2):c.3526+4G>A rs1284156162 0.00001
NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His) rs750815565 0.00001
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu) rs766941490 0.00001
NM_000089.4(COL1A2):c.3706A>G (p.Ser1236Gly) rs781184808 0.00001
NM_000089.4(COL1A2):c.3708C>A (p.Ser1236Arg) rs1214052566 0.00001
NM_000089.4(COL1A2):c.3773G>A (p.Arg1258His) rs200663095 0.00001
NM_000089.4(COL1A2):c.3879G>T (p.Gln1293His) rs1214506904 0.00001
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082 0.00001
NM_000089.4(COL1A2):c.3941T>C (p.Val1314Ala) rs1421507234 0.00001
NM_000089.4(COL1A2):c.3995A>T (p.Lys1332Ile) rs1484368913 0.00001
NM_000089.4(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932 0.00001
NM_000089.4(COL1A2):c.4052G>A (p.Gly1351Asp) rs372535479 0.00001
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val) rs1281006993 0.00001
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln) rs765116624 0.00001
NM_000089.4(COL1A2):c.548A>G (p.Asn183Ser) rs1283526350 0.00001
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg) rs772672797 0.00001
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala) rs1210318478 0.00001
NM_000089.4(COL1A2):c.69A>G (p.Gln23=) rs770754442 0.00001
NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg) rs1313865970 0.00001
NM_000089.4(COL1A2):c.835G>A (p.Ala279Thr) rs374616916 0.00001
NM_000089.4(COL1A2):c.845G>A (p.Arg282His) rs542393716 0.00001
NM_000089.4(COL1A2):c.877C>T (p.Pro293Ser) rs1365024484 0.00001
NC_000007.13:g.(?_94024344)_(94059705_?)dup
NC_000007.13:g.(?_94027674)_(94027728_?)del
NC_000007.13:g.(?_94040181)_(94059705_?)dup
NM_000089.4(COL1A2):c.1035+4A>T
NM_000089.4(COL1A2):c.1041G>T (p.Glu347Asp)
NM_000089.4(COL1A2):c.1058C>T (p.Ser353Phe)
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp) rs1057518430
NM_000089.4(COL1A2):c.1080G>A (p.Lys360=)
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=) rs748961276
NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)
NM_000089.4(COL1A2):c.1124G>T (p.Ser375Ile)
NM_000089.4(COL1A2):c.1178C>A (p.Pro393Gln)
NM_000089.4(COL1A2):c.1213C>T (p.Arg405Cys)
NM_000089.4(COL1A2):c.1228G>T (p.Ala410Ser) rs1235071648
NM_000089.4(COL1A2):c.1240G>A (p.Ala414Thr)
NM_000089.4(COL1A2):c.1251+5G>C
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
NM_000089.4(COL1A2):c.1277G>C (p.Ser426Thr)
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile) rs376629202
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=) rs779173151
NM_000089.4(COL1A2):c.133-3C>A rs1562897561
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys) rs1446399667
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr) rs2115902728
NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr) rs562290953
NM_000089.4(COL1A2):c.1393G>C (p.Glu465Gln) rs1562902082
NM_000089.4(COL1A2):c.1399C>T (p.Pro467Ser)
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
NM_000089.4(COL1A2):c.1418T>C (p.Ile473Thr)
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
NM_000089.4(COL1A2):c.1422C>G (p.Asp474Glu)
NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)
NM_000089.4(COL1A2):c.1438A>C (p.Ile480Leu) rs778238943
NM_000089.4(COL1A2):c.1438A>G (p.Ile480Val)
NM_000089.4(COL1A2):c.1444C>A (p.Pro482Thr)
NM_000089.4(COL1A2):c.1446_1447delinsCA (p.Ala483Thr) rs2115904550
NM_000089.4(COL1A2):c.145C>A (p.Pro49Thr)
NM_000089.4(COL1A2):c.146C>A (p.Pro49His)
NM_000089.4(COL1A2):c.1474A>T (p.Ile492Phe) rs776551401
NM_000089.4(COL1A2):c.1498C>G (p.Pro500Ala) rs2115904764
NM_000089.4(COL1A2):c.149C>T (p.Pro50Leu) rs377637698
NM_000089.4(COL1A2):c.1502C>A (p.Thr501Asn)
NM_000089.4(COL1A2):c.1503+5G>A
NM_000089.4(COL1A2):c.1510C>A (p.Pro504Thr)
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup) rs1791961847
NM_000089.4(COL1A2):c.1546G>T (p.Ala516Ser) rs1185283931
NM_000089.4(COL1A2):c.1557+6T>C
NM_000089.4(COL1A2):c.1562C>T (p.Ala521Val)
NM_000089.4(COL1A2):c.1570C>T (p.Pro524Ser) rs1791979962
NM_000089.4(COL1A2):c.157G>A (p.Asp53Asn)
NM_000089.4(COL1A2):c.159T>A (p.Asp53Glu)
NM_000089.4(COL1A2):c.1601C>T (p.Pro534Leu)
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) rs42524
NM_000089.4(COL1A2):c.1652C>T (p.Pro551Leu)
NM_000089.4(COL1A2):c.1665+14_1665+15delinsCG
NM_000089.4(COL1A2):c.1678C>A (p.Pro560Thr) rs2115910291
NM_000089.4(COL1A2):c.1700T>C (p.Val567Ala)
NM_000089.4(COL1A2):c.1705A>G (p.Lys569Glu) rs2115910396
NM_000089.4(COL1A2):c.1719+19A>G
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
NM_000089.4(COL1A2):c.1750C>A (p.Pro584Thr)
NM_000089.4(COL1A2):c.1765-5T>C rs2115916781
NM_000089.4(COL1A2):c.1772G>A (p.Arg591His)
NM_000089.4(COL1A2):c.1772G>C (p.Arg591Pro)
NM_000089.4(COL1A2):c.1789A>G (p.Ser597Gly)
NM_000089.4(COL1A2):c.1816A>G (p.Ile606Val)
NM_000089.4(COL1A2):c.1826G>A (p.Arg609Gln)
NM_000089.4(COL1A2):c.1840C>T (p.Pro614Ser)
NM_000089.4(COL1A2):c.1888G>A (p.Val630Met)
NM_000089.4(COL1A2):c.1890G>A (p.Val630=)
NM_000089.4(COL1A2):c.1895C>G (p.Thr632Ser)
NM_000089.4(COL1A2):c.1898C>G (p.Ala633Gly) rs2115921517
NM_000089.4(COL1A2):c.1908T>A (p.Ser636=) rs1584324517
NM_000089.4(COL1A2):c.1912C>T (p.Pro638Ser)
NM_000089.4(COL1A2):c.1925C>T (p.Pro642Leu) rs1064797338
NM_000089.4(COL1A2):c.1943C>T (p.Ala648Val)
NM_000089.4(COL1A2):c.1948A>G (p.Ile650Val) rs781672171
NM_000089.4(COL1A2):c.1952C>T (p.Pro651Leu)
NM_000089.4(COL1A2):c.1971+3A>G rs756587993
NM_000089.4(COL1A2):c.1971+3A>T rs756587993
NM_000089.4(COL1A2):c.1971+4C>T
NM_000089.4(COL1A2):c.1987A>G (p.Arg663Gly)
NM_000089.4(COL1A2):c.199C>T (p.Pro67Ser)
NM_000089.4(COL1A2):c.1A>T (p.Met1Leu)
NM_000089.4(COL1A2):c.2025+4A>G
NM_000089.4(COL1A2):c.2074G>A (p.Asp692Asn)
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
NM_000089.4(COL1A2):c.208C>T (p.Pro70Ser)
NM_000089.4(COL1A2):c.2095G>C (p.Ala699Pro)
NM_000089.4(COL1A2):c.2095GCTGGTCCT[4] (p.Pro707_Arg708insAlaGlyPro)
NM_000089.4(COL1A2):c.2101C>G (p.Pro701Ala)
NM_000089.4(COL1A2):c.2113G>T (p.Ala705Ser)
NM_000089.4(COL1A2):c.2123G>C (p.Arg708Pro) rs72658163
NM_000089.4(COL1A2):c.2140C>G (p.Arg714Gly)
NM_000089.4(COL1A2):c.2141G>T (p.Arg714Leu) rs773392397
NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly) rs1584326175
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile) rs189374343
NM_000089.4(COL1A2):c.2187+6T>A rs794727585
NM_000089.4(COL1A2):c.2188-6_2188-1dup
NM_000089.4(COL1A2):c.2194G>A (p.Ala732Thr)
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)
NM_000089.4(COL1A2):c.2276T>C (p.Val759Ala)
NM_000089.4(COL1A2):c.2282C>G (p.Ala761Gly)
NM_000089.4(COL1A2):c.2295+3A>C rs757560633
NM_000089.4(COL1A2):c.2295+5G>C rs2115932392
NM_000089.4(COL1A2):c.2295T>C (p.Ala765=)
NM_000089.4(COL1A2):c.2296-3T>G
NM_000089.4(COL1A2):c.22C>T (p.Arg8Trp)
NM_000089.4(COL1A2):c.2329C>G (p.Arg777Gly)
NM_000089.4(COL1A2):c.2329C>T (p.Arg777Cys) rs779108678
NM_000089.4(COL1A2):c.2329_2331del (p.Arg777del)
NM_000089.4(COL1A2):c.2345C>T (p.Pro782Leu)
NM_000089.4(COL1A2):c.2349+3G>A
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
NM_000089.4(COL1A2):c.2398C>G (p.Pro800Ala)
NM_000089.4(COL1A2):c.2403+3A>G
NM_000089.4(COL1A2):c.2404-15T>C
NM_000089.4(COL1A2):c.2404-17del
NM_000089.4(COL1A2):c.2429C>G (p.Pro810Arg)
NM_000089.4(COL1A2):c.2455C>T (p.Arg819Cys) rs2115941044
NM_000089.4(COL1A2):c.245A>G (p.Asp82Gly)
NM_000089.4(COL1A2):c.2464C>T (p.Arg822Cys)
NM_000089.4(COL1A2):c.2474A>C (p.Gln825Pro) rs556922843
NM_000089.4(COL1A2):c.2474A>G (p.Gln825Arg)
NM_000089.4(COL1A2):c.2482G>T (p.Val828Phe)
NM_000089.4(COL1A2):c.2488C>G (p.Arg830Gly)
NM_000089.4(COL1A2):c.2509G>A (p.Val837Ile)
NM_000089.4(COL1A2):c.2515C>T (p.Pro839Ser)
NM_000089.4(COL1A2):c.254G>T (p.Gly85Val)
NM_000089.4(COL1A2):c.2550A>G (p.Gly850=)
NM_000089.4(COL1A2):c.2550A>T (p.Gly850=)
NM_000089.4(COL1A2):c.2554G>A (p.Ala852Thr)
NM_000089.4(COL1A2):c.2554G>T (p.Ala852Ser)
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.2596C>G (p.Leu866Val) rs538945650
NM_000089.4(COL1A2):c.2596CTT[1] (p.Leu867del)
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
NM_000089.4(COL1A2):c.266G>T (p.Gly89Val)
NM_000089.4(COL1A2):c.2673+6T>A
NM_000089.4(COL1A2):c.2673G>A (p.Val891=) rs1114167364
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.4(COL1A2):c.2716C>T (p.Arg906Cys)
NM_000089.4(COL1A2):c.2717G>C (p.Arg906Pro) rs147063981
NM_000089.4(COL1A2):c.2740A>G (p.Ser914Gly)
NM_000089.4(COL1A2):c.2758G>T (p.Ala920Ser)
NM_000089.4(COL1A2):c.2771C>G (p.Ala924Gly)
NM_000089.4(COL1A2):c.2776C>T (p.Arg926Cys)
NM_000089.4(COL1A2):c.2781+16G>A
NM_000089.4(COL1A2):c.2782-13G>A
NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)
NM_000089.4(COL1A2):c.279+3A>G
NM_000089.4(COL1A2):c.280-7_280-3del rs2115874855
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr) rs1476399806
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys) rs779303344
NM_000089.4(COL1A2):c.2858A>G (p.Asn953Ser)
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val) rs1482901474
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=) rs142352627
NM_000089.4(COL1A2):c.2939A>G (p.Glu980Gly) rs2115952651
NM_000089.4(COL1A2):c.2947C>T (p.Pro983Ser)
NM_000089.4(COL1A2):c.2960T>C (p.Val987Ala) rs1584330105
NM_000089.4(COL1A2):c.2977G>C (p.Val993Leu) rs1792270576
NM_000089.4(COL1A2):c.2997+6T>A rs1584330154
NM_000089.4(COL1A2):c.29T>G (p.Leu10Trp)
NM_000089.4(COL1A2):c.3013C>T (p.Arg1005Cys)
NM_000089.4(COL1A2):c.302C>T (p.Pro101Leu)
NM_000089.4(COL1A2):c.3049A>G (p.Arg1017Gly)
NM_000089.4(COL1A2):c.304C>A (p.Pro102Thr) rs189557655
NM_000089.4(COL1A2):c.305C>G (p.Pro102Arg) rs780850548
NM_000089.4(COL1A2):c.3074A>G (p.His1025Arg)
NM_000089.4(COL1A2):c.3090T>A (p.Gly1030=)
NM_000089.4(COL1A2):c.3118G>T (p.Asp1040Tyr)
NM_000089.4(COL1A2):c.3130C>T (p.Pro1044Ser)
NM_000089.4(COL1A2):c.3159+3A>C rs2115957293
NM_000089.4(COL1A2):c.3159+6T>A rs2115957317
NM_000089.4(COL1A2):c.3163C>T (p.Pro1055Ser)
NM_000089.4(COL1A2):c.3176C>T (p.Ser1059Phe)
NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)
NM_000089.4(COL1A2):c.3208C>T (p.His1070Tyr)
NM_000089.4(COL1A2):c.3210T>A (p.His1070Gln) rs2115957891
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser) rs763974489
NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)
NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)
NM_000089.4(COL1A2):c.3267+5G>C rs2115958193
NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5]) rs74315103
NM_000089.4(COL1A2):c.3289C>T (p.Pro1097Ser)
NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)
NM_000089.4(COL1A2):c.3319G>T (p.Gly1107Cys) rs745396382
NM_000089.4(COL1A2):c.3338A>C (p.Asp1113Ala) rs1562908093
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro) rs193922168
NM_000089.4(COL1A2):c.3360C>A (p.Asp1120Glu)
NM_000089.4(COL1A2):c.3367C>T (p.Arg1123Cys) rs765271962
NM_000089.4(COL1A2):c.3368G>A (p.Arg1123His) rs145541630
NM_000089.4(COL1A2):c.3368G>C (p.Arg1123Pro)
NM_000089.4(COL1A2):c.3382C>T (p.Leu1128Phe)
NM_000089.4(COL1A2):c.3403G>T (p.Val1135Phe)
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly) rs745366015
NM_000089.4(COL1A2):c.3407A>T (p.Asp1136Val) rs745366015
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg) rs2115875606
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His) rs374282276
NM_000089.4(COL1A2):c.3430A>T (p.Asn1144Tyr) rs374282276
NM_000089.4(COL1A2):c.3439G>C (p.Glu1147Gln) rs746701185
NM_000089.4(COL1A2):c.3443C>T (p.Thr1148Ile)
NM_000089.4(COL1A2):c.3463T>A (p.Ser1155Thr)
NM_000089.4(COL1A2):c.3469A>G (p.Lys1157Glu)
NM_000089.4(COL1A2):c.346C>T (p.Pro116Ser)
NM_000089.4(COL1A2):c.3481C>T (p.Arg1161Cys)
NM_000089.4(COL1A2):c.3482G>T (p.Arg1161Leu) rs542912072
NM_000089.4(COL1A2):c.3488G>A (p.Cys1163Tyr) rs1792314999
NM_000089.4(COL1A2):c.3502C>A (p.Leu1168Ile)
NM_000089.4(COL1A2):c.350C>T (p.Ala117Val)
NM_000089.4(COL1A2):c.3526+3A>G
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del) rs1554398685
NM_000089.4(COL1A2):c.3556T>C (p.Cys1186Arg) rs1421198378
NM_000089.4(COL1A2):c.3559A>G (p.Thr1187Ala)
NM_000089.4(COL1A2):c.3562A>G (p.Met1188Val)
NM_000089.4(COL1A2):c.3565G>A (p.Asp1189Asn)
NM_000089.4(COL1A2):c.3566A>G (p.Asp1189Gly) rs754575611
NM_000089.4(COL1A2):c.3571A>G (p.Ile1191Val) rs1792328980
NM_000089.4(COL1A2):c.3575A>G (p.Lys1192Arg)
NM_000089.4(COL1A2):c.3586G>T (p.Asp1196Tyr) rs1792329797
NM_000089.4(COL1A2):c.3601G>A (p.Glu1201Lys)
NM_000089.4(COL1A2):c.3616G>C (p.Ala1206Pro) rs200492800
NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys) rs267601644
NM_000089.4(COL1A2):c.3633C>G (p.Ile1211Met)
NM_000089.4(COL1A2):c.3635C>T (p.Pro1212Leu)
NM_000089.4(COL1A2):c.3656G>A (p.Ser1219Asn) rs1554398702
NM_000089.4(COL1A2):c.367C>A (p.Pro123Thr) rs774383359
NM_000089.4(COL1A2):c.368C>A (p.Pro123His) rs1791759808
NM_000089.4(COL1A2):c.3711+3G>A
NM_000089.4(COL1A2):c.3711+6G>A
NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val) rs1792349508
NM_000089.4(COL1A2):c.3760C>T (p.Leu1254Phe)
NM_000089.4(COL1A2):c.3769A>G (p.Met1257Val) rs1792350190
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys) rs766273613
NM_000089.4(COL1A2):c.379-3T>C
NM_000089.4(COL1A2):c.3797A>C (p.Gln1266Pro)
NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser) rs1554398835
NM_000089.4(COL1A2):c.3822C>G (p.Asn1274Lys)
NM_000089.4(COL1A2):c.3832T>C (p.Tyr1278His)
NM_000089.4(COL1A2):c.3835A>T (p.Met1279Leu)
NM_000089.4(COL1A2):c.3836T>C (p.Met1279Thr)
NM_000089.4(COL1A2):c.3838G>A (p.Asp1280Asn)
NM_000089.4(COL1A2):c.3852C>T (p.Gly1284=) rs663
NM_000089.4(COL1A2):c.3866C>G (p.Ala1289Gly)
NM_000089.4(COL1A2):c.3880G>C (p.Gly1294Arg) rs2115966913
NM_000089.4(COL1A2):c.3889G>A (p.Asp1297Asn)
NM_000089.4(COL1A2):c.3897A>C (p.Glu1299Asp)
NM_000089.4(COL1A2):c.3902T>C (p.Val1301Ala)
NM_000089.4(COL1A2):c.392C>T (p.Ala131Val)
NM_000089.4(COL1A2):c.3936dup (p.Leu1313fs) rs2115967082
NM_000089.4(COL1A2):c.3949T>C (p.Cys1317Arg) rs1792355097
NM_000089.4(COL1A2):c.394C>T (p.Arg132Cys)
NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr) rs2115967180
NM_000089.4(COL1A2):c.3974G>A (p.Gly1325Glu)
NM_000089.4(COL1A2):c.3977A>T (p.Lys1326Met) rs943353660
NM_000089.4(COL1A2):c.4028A>G (p.Asp1343Gly)
NM_000089.4(COL1A2):c.4047C>G (p.Ile1349Met)
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter) rs760626067
NM_000089.4(COL1A2):c.4069T>C (p.Phe1357Leu)
NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)
NM_000089.4(COL1A2):c.417C>T (p.Gly139=)
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser) rs1791770915
NM_000089.4(COL1A2):c.440C>G (p.Pro147Arg)
NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys) rs1791771795
NM_000089.4(COL1A2):c.490G>A (p.Ala164Thr)
NM_000089.4(COL1A2):c.500T>C (p.Phe167Ser)
NM_000089.4(COL1A2):c.511C>T (p.Pro171Ser) rs2115879087
NM_000089.4(COL1A2):c.517C>T (p.Leu173Phe)
NM_000089.4(COL1A2):c.520C>T (p.Pro174Ser)
NM_000089.4(COL1A2):c.529A>C (p.Lys177Gln) rs1222909339
NM_000089.4(COL1A2):c.531A>C (p.Lys177Asn)
NM_000089.4(COL1A2):c.581C>T (p.Ala194Val)
NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)
NM_000089.4(COL1A2):c.595-5T>G
NM_000089.4(COL1A2):c.635A>C (p.Gln212Pro)
NM_000089.4(COL1A2):c.639+3A>G rs2115886901
NM_000089.4(COL1A2):c.639+4A>T
NM_000089.4(COL1A2):c.639+4_639+7del
NM_000089.4(COL1A2):c.639A>G (p.Thr213=) rs1015392105
NM_000089.4(COL1A2):c.653T>G (p.Leu218Arg)
NM_000089.4(COL1A2):c.665G>C (p.Arg222Thr)
NM_000089.4(COL1A2):c.693+2dup rs2115888133
NM_000089.4(COL1A2):c.693+6T>G rs2115888140
NM_000089.4(COL1A2):c.709G>A (p.Asp237Asn)
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
NM_000089.4(COL1A2):c.719T>C (p.Val240Ala)
NM_000089.4(COL1A2):c.739-3C>T
NM_000089.4(COL1A2):c.778G>A (p.Ala260Thr)
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val) rs1554395967
NM_000089.4(COL1A2):c.781C>G (p.Pro261Ala) rs141075408
NM_000089.4(COL1A2):c.790A>G (p.Lys264Glu)
NM_000089.4(COL1A2):c.792+6A>C
NM_000089.4(COL1A2):c.798A>C (p.Glu266Asp)
NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)
NM_000089.4(COL1A2):c.817G>T (p.Ala273Ser)
NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp) rs2115851777
NM_000089.4(COL1A2):c.82-6T>C
NM_000089.4(COL1A2):c.824C>T (p.Pro275Leu)
NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys) rs1479695906
NM_000089.4(COL1A2):c.832C>G (p.Pro278Ala)
NM_000089.4(COL1A2):c.833C>T (p.Pro278Leu) rs2115892207
NM_000089.4(COL1A2):c.835G>C (p.Ala279Pro) rs374616916
NM_000089.4(COL1A2):c.836C>G (p.Ala279Gly)
NM_000089.4(COL1A2):c.853G>T (p.Val285Leu)
NM_000089.4(COL1A2):c.854T>C (p.Val285Ala)
NM_000089.4(COL1A2):c.880G>A (p.Val294Ile) rs145693444
NM_000089.4(COL1A2):c.887C>A (p.Pro296His)
NM_000089.4(COL1A2):c.890C>T (p.Pro297Leu)
NM_000089.4(COL1A2):c.891+4A>G
NM_000089.4(COL1A2):c.891T>G (p.Pro297=)
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr) rs2115893108
NM_000089.4(COL1A2):c.896A>G (p.Asn299Ser)
NM_000089.4(COL1A2):c.970C>T (p.Pro324Ser) rs2115894024
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr) rs1791879479
NM_000089.4(COL1A2):c.979C>T (p.Arg327Cys)
NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)

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.