ClinVar Miner

List of variants in gene NBN reported as likely pathogenic for Microcephaly, normal intelligence and immunodeficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP
NC_000008.10:g.(?_90955471)_(90983528_?)dup
NC_000008.10:g.(?_90990438)_(90993131_?)del
NC_000008.10:g.(?_90990442)_(90993127_?)del
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.4(NBN):c.1124+1G>A rs1057517209
NM_002485.4(NBN):c.1124+2T>G rs1554560352
NM_002485.4(NBN):c.1125-1G>A rs1057517102
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.11del (p.Leu4fs) rs1064793210
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.4(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.4(NBN):c.1397+2T>A rs730881850
NM_002485.4(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.4(NBN):c.1520_1523ATCT[1] (p.Ser509fs) rs1554558449
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.4(NBN):c.178dup (p.Thr60fs) rs1057516392
NM_002485.4(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.4(NBN):c.1845+2T>C
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1911_1914+1del rs1554556880
NM_002485.4(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.4(NBN):c.1998_1999CT[1] (p.Ser667fs) rs1057516852
NM_002485.4(NBN):c.2049_2050delinsT (p.Lys683fs) rs1057516869
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2070+2del rs1057517075
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2071-2A>C rs775397477
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.2119_2141del (p.Asp707fs) rs1554555782
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.2156dup (p.Glu720fs)
NM_002485.4(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.4(NBN):c.2184+1G>A rs756363734
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2185-1G>A rs1057517262
NM_002485.4(NBN):c.2194C>T (p.Gln732Ter) rs1554554265
NM_002485.4(NBN):c.2226_2234+4del rs1563497529
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.265C>T (p.Arg89Ter) rs1057516320
NM_002485.4(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.4(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.380_383delinsAC (p.Ala127fs) rs1554567960
NM_002485.4(NBN):c.432del (p.Glu145fs) rs1554567902
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.531del (p.Phe177fs) rs1057516787
NM_002485.4(NBN):c.585-1G>A rs1394578008
NM_002485.4(NBN):c.585-2A>G
NM_002485.4(NBN):c.590dup (p.Tyr197Ter) rs1554564309
NM_002485.4(NBN):c.702+1G>A rs1057517104
NM_002485.4(NBN):c.702+1G>C rs1057517104
NM_002485.4(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.4(NBN):c.896+2T>C
NM_002485.4(NBN):c.897-2A>G
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002485.4(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.4(NBN):c.994+1G>T rs1554562083
NM_002485.4(NBN):c.995-1G>C rs1554560523
NM_002485.4(NBN):c.995-2A>C rs876659521
NM_002485.4(NBN):c.995-2A>G rs876659521

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.