ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance for 2q23.1 microdeletion syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 132
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HGVS dbSNP
NC_000002.11:g.(?_149216308)_(149270530_?)dup
NM_018328.4(MBD5):c.1058C>G (p.Ser353Cys) rs1448983984
NM_018328.4(MBD5):c.1141T>C (p.Phe381Leu) rs768570356
NM_018328.4(MBD5):c.1234G>A (p.Val412Ile) rs761118931
NM_018328.4(MBD5):c.1249_1263del (p.Met417_Ser421del) rs1559086500
NM_018328.4(MBD5):c.1304C>T (p.Ser435Phe) rs768225923
NM_018328.4(MBD5):c.1327G>A (p.Val443Met) rs137977565
NM_018328.4(MBD5):c.1327G>T (p.Val443Leu) rs137977565
NM_018328.4(MBD5):c.1372C>A (p.Gln458Lys) rs990365646
NM_018328.4(MBD5):c.1382G>A (p.Arg461His) rs139964770
NM_018328.4(MBD5):c.1406A>G (p.His469Arg) rs766571687
NM_018328.4(MBD5):c.1510A>G (p.Met504Val) rs114251920
NM_018328.4(MBD5):c.1564C>T (p.Pro522Ser) rs1161083244
NM_018328.4(MBD5):c.1570C>T (p.Pro524Ser) rs727503998
NM_018328.4(MBD5):c.1591A>G (p.Asn531Asp) rs757922781
NM_018328.4(MBD5):c.1634C>G (p.Ser545Cys) rs1553518618
NM_018328.4(MBD5):c.1680G>T (p.Met560Ile) rs1574460777
NM_018328.4(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_018328.4(MBD5):c.1842_1865del (p.Glu615_Thr622del) rs780715275
NM_018328.4(MBD5):c.1962C>A (p.Asp654Glu) rs139953766
NM_018328.4(MBD5):c.1987C>T (p.Pro663Ser) rs1057520996
NM_018328.4(MBD5):c.19T>A (p.Cys7Ser) rs766104877
NM_018328.4(MBD5):c.19T>C (p.Cys7Arg) rs766104877
NM_018328.4(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579
NM_018328.4(MBD5):c.2177C>T (p.Ser726Leu)
NM_018328.4(MBD5):c.2213A>G (p.His738Arg) rs528789050
NM_018328.4(MBD5):c.2240G>C (p.Ser747Thr) rs1031639264
NM_018328.4(MBD5):c.2257C>A (p.Pro753Thr) rs370340010
NM_018328.4(MBD5):c.2275G>A (p.Val759Met) rs377604964
NM_018328.4(MBD5):c.2278C>T (p.His760Tyr) rs1060501150
NM_018328.4(MBD5):c.2314A>C (p.Asn772His) rs200151142
NM_018328.4(MBD5):c.2358G>T (p.Gln786His) rs1574462092
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.2384T>A (p.Met795Lys) rs1446479503
NM_018328.4(MBD5):c.2402T>C (p.Met801Thr) rs756231796
NM_018328.4(MBD5):c.2426C>G (p.Pro809Arg) rs1060501152
NM_018328.4(MBD5):c.247A>G (p.Lys83Glu) rs1559083055
NM_018328.4(MBD5):c.2495A>G (p.Tyr832Cys) rs954814725
NM_018328.4(MBD5):c.2502A>C (p.Gln834His) rs147272790
NM_018328.4(MBD5):c.2521G>A (p.Gly841Ser) rs752445724
NM_018328.4(MBD5):c.2530C>T (p.Pro844Ser) rs1283171716
NM_018328.4(MBD5):c.2543T>G (p.Ile848Arg) rs184415910
NM_018328.4(MBD5):c.2548A>G (p.Ile850Val) rs1574476665
NM_018328.4(MBD5):c.2552C>T (p.Ala851Val) rs144557654
NM_018328.4(MBD5):c.25G>C (p.Gly9Arg) rs143952512
NM_018328.4(MBD5):c.2621C>A (p.Ala874Glu) rs907317201
NM_018328.4(MBD5):c.268G>A (p.Val90Ile) rs1329667912
NM_018328.4(MBD5):c.2750G>A (p.Ser917Asn) rs748689212
NM_018328.4(MBD5):c.2751C>G (p.Ser917Arg) rs935799783
NM_018328.4(MBD5):c.2828A>G (p.Gln943Arg) rs377062993
NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu) rs114359726
NM_018328.4(MBD5):c.2865C>A (p.Asn955Lys) rs1559096615
NM_018328.4(MBD5):c.2870C>A (p.Thr957Asn) rs774999439
NM_018328.4(MBD5):c.2884C>A (p.Gln962Lys) rs1200329763
NM_018328.4(MBD5):c.2891C>T (p.Thr964Ile) rs750939401
NM_018328.4(MBD5):c.2903C>T (p.Ser968Leu) rs200985982
NM_018328.4(MBD5):c.2978A>C (p.Gln993Pro) rs761395486
NM_018328.4(MBD5):c.302T>C (p.Ile101Thr) rs1559083106
NM_018328.4(MBD5):c.3035G>A (p.Cys1012Tyr) rs1559096858
NM_018328.4(MBD5):c.3063G>A (p.Met1021Ile) rs373991655
NM_018328.4(MBD5):c.3067G>A (p.Glu1023Lys) rs1064796473
NM_018328.4(MBD5):c.3073G>T (p.Ala1025Ser) rs1553520432
NM_018328.4(MBD5):c.321T>G (p.Ile107Met) rs1553517962
NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) rs199626531
NM_018328.4(MBD5):c.3266A>G (p.Tyr1089Cys) rs1234231456
NM_018328.4(MBD5):c.3355G>T (p.Ala1119Ser) rs373177231
NM_018328.4(MBD5):c.3385T>C (p.Ser1129Pro) rs200395037
NM_018328.4(MBD5):c.3389T>C (p.Ile1130Thr) rs748142226
NM_018328.4(MBD5):c.3436G>C (p.Gly1146Arg) rs1559098890
NM_018328.4(MBD5):c.3440G>A (p.Arg1147Gln) rs368605084
NM_018328.4(MBD5):c.3494G>A (p.Arg1165Gln) rs727503999
NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) rs752035001
NM_018328.4(MBD5):c.3614G>T (p.Gly1205Val) rs1559099144
NM_018328.4(MBD5):c.3623A>G (p.Asn1208Ser) rs1574485128
NM_018328.4(MBD5):c.3768G>T (p.Gly1256=) rs376625886
NM_018328.4(MBD5):c.3808A>G (p.Lys1270Glu) rs1574485440
NM_018328.4(MBD5):c.3820A>G (p.Met1274Val) rs572436251
NM_018328.4(MBD5):c.3841G>C (p.Glu1281Gln) rs1296916399
NM_018328.4(MBD5):c.3902T>C (p.Phe1301Ser) rs755983540
NM_018328.4(MBD5):c.3993A>C (p.Lys1331Asn) rs1553520621
NM_018328.4(MBD5):c.4033G>A (p.Val1345Ile) rs376249586
NM_018328.4(MBD5):c.4042T>C (p.Cys1348Arg) rs1396512077
NM_018328.4(MBD5):c.4158C>T (p.Gly1386=) rs543329958
NM_018328.4(MBD5):c.4159G>A (p.Asp1387Asn) rs750381367
NM_018328.4(MBD5):c.4221C>A (p.Asp1407Glu) rs768363712
NM_018328.4(MBD5):c.431C>T (p.Thr144Ile) rs1553518402
NM_018328.4(MBD5):c.4439G>A (p.Arg1480Lys) rs913152551
NM_018328.4(MBD5):c.55A>G (p.Ile19Val) rs1559080667
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_018328.4(MBD5):c.622C>T (p.His208Tyr) rs1574458957
NM_018328.4(MBD5):c.709A>G (p.Ile237Val) rs751251720
NM_018328.4(MBD5):c.718A>G (p.Arg240Gly) rs767317924
NM_018328.4(MBD5):c.742G>C (p.Asp248His) rs753529014
NM_018328.4(MBD5):c.801C>G (p.His267Gln) rs747135508
NM_018328.4(MBD5):c.811A>G (p.Thr271Ala) rs899476247
NM_018328.4(MBD5):c.826C>T (p.Pro276Ser) rs376756158
NM_018328.4(MBD5):c.884C>G (p.Thr295Ser) rs368339420
NM_018328.4(MBD5):c.887A>G (p.Asn296Ser) rs990703439
NM_018328.4(MBD5):c.935A>T (p.Lys312Ile) rs146031838
NM_018328.4(MBD5):c.961A>G (p.Met321Val) rs369869865
NM_018328.4(MBD5):c.980T>C (p.Met327Thr) rs776228346
NM_018328.5(MBD5):c.1016C>T (p.Pro339Leu)
NM_018328.5(MBD5):c.1017_1019TCC[1] (p.Pro342del)
NM_018328.5(MBD5):c.1135A>G (p.Thr379Ala)
NM_018328.5(MBD5):c.1560T>G (p.Asp520Glu)
NM_018328.5(MBD5):c.1879A>G (p.Thr627Ala)
NM_018328.5(MBD5):c.1985C>A (p.Pro662Gln)
NM_018328.5(MBD5):c.2522G>A (p.Gly841Asp)
NM_018328.5(MBD5):c.2524T>C (p.Ser842Pro)
NM_018328.5(MBD5):c.2569G>A (p.Ala857Thr)
NM_018328.5(MBD5):c.2585C>T (p.Thr862Ile)
NM_018328.5(MBD5):c.2642G>A (p.Ser881Asn)
NM_018328.5(MBD5):c.2734C>T (p.His912Tyr)
NM_018328.5(MBD5):c.28G>A (p.Gly10Arg)
NM_018328.5(MBD5):c.3101C>T (p.Thr1034Ile)
NM_018328.5(MBD5):c.3303G>T (p.Gln1101His)
NM_018328.5(MBD5):c.3549A>C (p.Glu1183Asp)
NM_018328.5(MBD5):c.3586C>G (p.Gln1196Glu)
NM_018328.5(MBD5):c.3593A>G (p.Asp1198Gly)
NM_018328.5(MBD5):c.3690G>T (p.Arg1230Ser)
NM_018328.5(MBD5):c.3698A>G (p.Asn1233Ser)
NM_018328.5(MBD5):c.394A>G (p.Thr132Ala)
NM_018328.5(MBD5):c.396A>G (p.Thr132=)
NM_018328.5(MBD5):c.3998A>G (p.Tyr1333Cys)
NM_018328.5(MBD5):c.4138C>G (p.Pro1380Ala)
NM_018328.5(MBD5):c.4480A>G (p.Arg1494Gly)
NM_018328.5(MBD5):c.540_541delinsTA (p.Arg180_Leu181delinsSerIle)
NM_018328.5(MBD5):c.682G>A (p.Gly228Ser)
NM_018328.5(MBD5):c.80G>A (p.Arg27His)
NM_018328.5(MBD5):c.962T>C (p.Met321Thr)
NM_018328.5(MBD5):c.964G>C (p.Glu322Gln)
NM_018328.5(MBD5):c.979A>G (p.Met327Val)

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