ClinVar Miner

List of variants reported as likely benign for 2q23.1 microdeletion syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP
NM_018328.4(MBD5):c.1041G>T (p.Gln347His) rs746751148
NM_018328.4(MBD5):c.1055C>T (p.Thr352Ile) rs145808884
NM_018328.4(MBD5):c.1074T>C (p.Leu358=) rs751940096
NM_018328.4(MBD5):c.1119T>C (p.Pro373=) rs1574459848
NM_018328.4(MBD5):c.1198G>A (p.Val400Ile) rs377568191
NM_018328.4(MBD5):c.1382G>A (p.Arg461His) rs139964770
NM_018328.4(MBD5):c.1458T>C (p.Ile486=) rs144232195
NM_018328.4(MBD5):c.1524T>A (p.Pro508=) rs773043343
NM_018328.4(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702
NM_018328.4(MBD5):c.1589G>A (p.Ser530Asn) rs558138423
NM_018328.4(MBD5):c.1827C>T (p.Ala609=) rs761655364
NM_018328.4(MBD5):c.1842T>C (p.Thr614=) rs1553518662
NM_018328.4(MBD5):c.1920T>C (p.Gly640=) rs1031744379
NM_018328.4(MBD5):c.1961A>T (p.Asp654Val) rs115495710
NM_018328.4(MBD5):c.1962C>T (p.Asp654=) rs139953766
NM_018328.4(MBD5):c.1965A>C (p.Ala655=) rs774148814
NM_018328.4(MBD5):c.2010C>G (p.Leu670=) rs371014306
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.2170G>A (p.Gly724Arg) rs1553518717
NM_018328.4(MBD5):c.2198C>T (p.Ser733Phe) rs1438163020
NM_018328.4(MBD5):c.2295C>T (p.Asn765=) rs752044751
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.2472A>C (p.Ile824=) rs1574462288
NM_018328.4(MBD5):c.2519-8C>T rs761957089
NM_018328.4(MBD5):c.2550A>G (p.Ile850Met) rs756787235
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_018328.4(MBD5):c.267T>C (p.Asp89=) rs143333632
NM_018328.4(MBD5):c.2689G>A (p.Ala897Thr) rs778516851
NM_018328.4(MBD5):c.2689G>T (p.Ala897Ser)
NM_018328.4(MBD5):c.2724C>G (p.Asn908Lys) rs779824788
NM_018328.4(MBD5):c.274G>A (p.Ala92Thr) rs770801894
NM_018328.4(MBD5):c.2789A>C (p.Gln930Pro) rs564759063
NM_018328.4(MBD5):c.2908T>C (p.Leu970=) rs1574480161
NM_018328.4(MBD5):c.3027C>T (p.Pro1009=) rs144464864
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3087C>G (p.Asn1029Lys) rs771343592
NM_018328.4(MBD5):c.3094A>G (p.Ile1032Val) rs774513612
NM_018328.4(MBD5):c.3182C>T (p.Pro1061Leu) rs375158010
NM_018328.4(MBD5):c.3183G>A (p.Pro1061=) rs752275705
NM_018328.4(MBD5):c.3407T>C (p.Leu1136Pro) rs1406103855
NM_018328.4(MBD5):c.3483A>G (p.Ser1161=) rs775314520
NM_018328.4(MBD5):c.3519G>A (p.Gly1173=) rs1014000010
NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) rs752035001
NM_018328.4(MBD5):c.3636C>T (p.Tyr1212=) rs368825815
NM_018328.4(MBD5):c.3702C>T (p.Val1234=) rs144957555
NM_018328.4(MBD5):c.3767G>A (p.Gly1256Glu) rs773267074
NM_018328.4(MBD5):c.384C>T (p.Pro128=) rs753595652
NM_018328.4(MBD5):c.385G>A (p.Gly129Arg) rs370534487
NM_018328.4(MBD5):c.3896G>A (p.Arg1299Gln) rs35934694
NM_018328.4(MBD5):c.4038T>C (p.Asn1346=) rs147744781
NM_018328.4(MBD5):c.4047G>T (p.Val1349=) rs138337378
NM_018328.4(MBD5):c.4101A>G (p.Pro1367=) rs1553520655
NM_018328.4(MBD5):c.4146G>A (p.Thr1382=) rs759890387
NM_018328.4(MBD5):c.4158C>T (p.Gly1386=) rs543329958
NM_018328.4(MBD5):c.422G>A (p.Arg141Gln) rs200245855
NM_018328.4(MBD5):c.4236A>C (p.Ser1412=) rs149419174
NM_018328.4(MBD5):c.4236A>G (p.Ser1412=) rs149419174
NM_018328.4(MBD5):c.4252G>A (p.Glu1418Lys) rs577955398
NM_018328.4(MBD5):c.4398C>T (p.Asp1466=) rs755570293
NM_018328.4(MBD5):c.4414-10T>G rs775307238
NM_018328.4(MBD5):c.4464G>A (p.Lys1488=) rs1057522299
NM_018328.4(MBD5):c.46C>A (p.Leu16Ile) rs749436847
NM_018328.4(MBD5):c.471A>G (p.Thr157=) rs138433455
NM_018328.4(MBD5):c.502T>C (p.Phe168Leu) rs1225184691
NM_018328.4(MBD5):c.588T>C (p.Pro196=) rs373675091
NM_018328.4(MBD5):c.606A>T (p.Arg202Ser) rs1553518446
NM_018328.4(MBD5):c.675G>A (p.Ala225=) rs775582219
NM_018328.4(MBD5):c.763C>T (p.Pro255Ser) rs183855575
NM_018328.4(MBD5):c.924A>C (p.Pro308=) rs778385281
NM_018328.4(MBD5):c.936A>C (p.Lys312Asn) rs142815487
NM_018328.4(MBD5):c.974G>A (p.Arg325Gln) rs374866920
NM_018328.5(MBD5):c.1476_1496del (p.Ser495_Arg501del)
NM_018328.5(MBD5):c.1484_1486CAA[1] (p.Thr496del)
NM_018328.5(MBD5):c.1663C>G (p.Pro555Ala)
NM_018328.5(MBD5):c.1700A>G (p.Asn567Ser)
NM_018328.5(MBD5):c.2109G>C (p.Gln703His)
NM_018328.5(MBD5):c.2384T>C (p.Met795Thr)
NM_018328.5(MBD5):c.2648T>C (p.Leu883Pro)
NM_018328.5(MBD5):c.2879A>G (p.Asn960Ser)
NM_018328.5(MBD5):c.3260C>T (p.Ala1087Val)
NM_018328.5(MBD5):c.3652C>T (p.His1218Tyr)
NM_018328.5(MBD5):c.3697A>G (p.Asn1233Asp)
NM_018328.5(MBD5):c.3890A>G (p.Gln1297Arg)
NM_018328.5(MBD5):c.3893G>T (p.Ser1298Ile)
NM_018328.5(MBD5):c.4034T>G (p.Val1345Gly)
NM_018328.5(MBD5):c.4315C>T (p.Arg1439Cys)
NM_018328.5(MBD5):c.539G>A (p.Arg180Lys)
NM_018328.5(MBD5):c.941T>C (p.Met314Thr)

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