ClinVar Miner

List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 471
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HGVS dbSNP
NC_000006.12:g.(?_75086537)_(75202802_?)dup
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser)
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile)
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys)
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile)
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly) rs374757163
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile)
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg)
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr)
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala) rs200828190
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala) rs1582198440
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys) rs201657256
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met) rs201657256
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn) rs369309158
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val) rs1582198261
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu)
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr)
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn)
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu)
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=) rs372285460
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala) rs753897086
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu) rs774728500
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp)
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met)
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val)
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met) rs140583215
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His)
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln)
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro) rs1202194413
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met)
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr)
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser)
NM_004370.6(COL12A1):c.1892-6_1892-5insG rs752652515
NM_004370.6(COL12A1):c.1892-6dup rs753233369
NM_004370.6(COL12A1):c.1892-7T>A
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu)
NM_004370.6(COL12A1):c.189G>A (p.Thr63=)
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala)
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs)
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val)
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) rs201657576
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly)
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe)
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=)
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala)
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val) rs1202850966
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile)
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys) rs768052470
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr)
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser) rs984509796
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln) rs775023310
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala)
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn)
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val)
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu)
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser) rs370256196
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile) rs375704787
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile)
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp)
NM_004370.6(COL12A1):c.2438-5T>C
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile)
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu) rs201662983
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu) rs370388701
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu)
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr) rs568432319
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val) rs777386471
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr) rs1415214085
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp)
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu) rs377482121
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys) rs377223474
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His) rs779848906
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His)
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn) rs558571598
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del)
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His)
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr) rs201996851
NM_004370.6(COL12A1):c.2984-2A>G rs760316411
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys)
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile) rs1582147115
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala) rs1582147110
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys)
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His) rs752304678
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu) rs374540275
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala)
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val)
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp)
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala)
NM_004370.6(COL12A1):c.334+4A>T
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys) rs1582145759
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp)
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp)
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile) rs759294983
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala)
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln)
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn)
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro)
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu)
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr) rs752018748
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp)
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys) rs748277540
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His)
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn) rs1582139804
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583
NM_004370.6(COL12A1):c.3835+4A>G rs187358458
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile)
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys) rs764448554
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=)
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr) rs376766442
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.393A>C (p.Gln131His)
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.6(COL12A1):c.4000+4C>G rs375772555
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser) rs1187079906
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe) rs377551270
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala)
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn)
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met)
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn)
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del)
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val) rs1582133150
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln) rs370549168
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu)
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln)
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp)
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val)
NM_004370.6(COL12A1):c.4287+4A>T
NM_004370.6(COL12A1):c.42G>A (p.Ala14=) rs758961396
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln)
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly) rs201651899
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn) rs889393418
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu)
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys) rs1582131685
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr)
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile)
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr) rs760640025
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val) rs1582129070
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys)
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile)
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly)
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His) rs751419788
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu)
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys)
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser)
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala)
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn)
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser)
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile)
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp) rs370360673
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=)
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln)
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val) rs548978005
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val)
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala) rs200034130
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile) rs765702033
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu) rs754277446
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His) rs759038011
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys) rs780206104
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met)
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp) rs1582115930
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val)
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser) rs759692428
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr) rs749443694
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser) rs201810535
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser) rs373020081
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser)
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=)
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu) rs776561287
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799
NM_004370.6(COL12A1):c.5251+4A>G rs781348212
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys) rs760210784
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met)
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys) rs368526865
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu)
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys)
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala)
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile)
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=)
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly)
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser)
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys)
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr)
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala)
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly)
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val) rs1370422060
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His) rs770194625
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala) rs767796362
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser)
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala)
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn)
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg) rs764600940
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=)
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr)
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr)
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser)
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu) rs768626277
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn)
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met) rs536233725
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=)
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg)
NM_004370.6(COL12A1):c.5940_5942AGT[1] (p.Val1982del)
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser) rs373170333
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln) rs748657616
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu) rs752189896
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met)
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu)
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=) rs754929219
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His) rs34336755
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr)
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val)
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr)
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala) rs1390899930
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr) rs576888932
NM_004370.6(COL12A1):c.6341-9T>A
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val) rs1582209053
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe)
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu) rs1582089675
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=)
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu)
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu)
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His) rs374545461
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp)
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln) rs1253362145
NM_004370.6(COL12A1):c.66G>A (p.Glu22=) rs369544130
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr) rs199654252
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu)
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile)
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met)
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg)
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu)
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp) rs368686970
NM_004370.6(COL12A1):c.6946+5G>A rs1582086058
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu)
NM_004370.6(COL12A1):c.6947-6T>G
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu)
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His)
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr)
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn) rs772161963
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala) rs778958906
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala)
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile)
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7210+4T>G rs201950823
NM_004370.6(COL12A1):c.7210+9A>G
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly)
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His)
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys)
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val) rs1224729276
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln)
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala)
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu)
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser)
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile) rs371624564
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu)
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser)
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val)
NM_004370.6(COL12A1):c.7698-3C>T
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His)
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val)
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala)
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala) rs1582069073
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val)
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe)
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met)
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr)
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=)
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala) rs1582055239
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly)
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp)
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=)
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly)
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln) rs756809634
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg) rs779184954
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016
NM_004370.6(COL12A1):c.8524-3T>C rs755782718
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu) rs369360559
NM_004370.6(COL12A1):c.8577+4A>G rs1562105188
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=)
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala) rs758378155
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val) rs1385414325
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=)
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=)
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr)
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile)
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys) rs778941390
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly)
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala) rs761885492
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu)
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu)
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu) rs1582030236
NM_004370.6(COL12A1):c.892A>C (p.Asn298His)
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys)
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln)
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly) rs1582219536
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile)
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu)
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala) rs376189614
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu)
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val)
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His)
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser) rs746453262
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg)
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val)
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe)
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn)
NM_004370.6(COL12A1):c.997+6T>C

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.