ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 59
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HGVS dbSNP
NM_015243.2(VPS13B):c.1261_1272del (p.Lys421_Leu424del) rs1554633843
NM_015243.2(VPS13B):c.1302+2dup rs766708621
NM_015243.2(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329
NM_015243.2(VPS13B):c.2034_2036TAC[1] (p.Thr680del) rs1554645561
NM_017890.4(VPS13B):c.10018G>T (p.Val3340Phe) rs116746734
NM_017890.4(VPS13B):c.10250_10252ACA[1] (p.Asn3418del) rs1554581280
NM_017890.4(VPS13B):c.10427_10429del (p.Ala3476del) rs1554581420
NM_017890.4(VPS13B):c.10501T>C (p.Cys3501Arg) rs886062549
NM_017890.4(VPS13B):c.11209_11211GAG[1] (p.Glu3738del) rs781133717
NM_017890.4(VPS13B):c.11298T>G (p.Ile3766Met) rs267601674
NM_017890.4(VPS13B):c.11566_11568dup (p.Val3856dup) rs1554588147
NM_017890.4(VPS13B):c.11820+5G>A rs398124328
NM_017890.4(VPS13B):c.11858_11860ACA[1] (p.Asn3954del) rs1554590369
NM_017890.4(VPS13B):c.11889_11891dup (p.Ser3964dup) rs1236948038
NM_017890.4(VPS13B):c.11913_11915TTC[1] (p.Ser3973del) rs1554590420
NM_017890.4(VPS13B):c.11925_11928dup (p.Pro3977fs) rs1554590433
NM_017890.4(VPS13B):c.11967_11970dup (p.Lys3991delinsCysTer) rs1554590486
NM_017890.4(VPS13B):c.11974dup (p.Thr3992fs) rs1554590501
NM_017890.4(VPS13B):c.11976_11979dup (p.His3994fs) rs1554590506
NM_017890.4(VPS13B):c.11981_11986dup (p.His3994_Tyr3995dup) rs1554590515
NM_017890.4(VPS13B):c.11982_11983insG (p.Tyr3995fs) rs1554590537
NM_017890.4(VPS13B):c.11992_11994dup (p.Asp3998dup) rs1554590552
NM_017890.4(VPS13B):c.12039_12059dup (p.Asn4014_Gly4020dup) rs1554590631
NM_017890.4(VPS13B):c.12040_12041dup (p.Asn4014fs) rs1554590620
NM_017890.4(VPS13B):c.12042_12043dup (p.Lys4015fs) rs1554590636
NM_017890.4(VPS13B):c.12042_12045dup (p.Ala4016Ter) rs769983613
NM_017890.4(VPS13B):c.2579_2584dup (p.Ser862_Thr863insAsnCys) rs1554706171
NM_017890.4(VPS13B):c.2651-10T>G rs398124330
NM_017890.4(VPS13B):c.2935-4C>T rs207469601
NM_017890.4(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) rs1554793589
NM_017890.4(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) rs1554806874
NM_017890.4(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_017890.4(VPS13B):c.4158-11A>G rs1554824890
NM_017890.4(VPS13B):c.4158-566G>C rs376982982
NM_017890.4(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs) rs1554824897
NM_017890.4(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419
NM_017890.4(VPS13B):c.4188A>T (p.Gln1396His) rs768432188
NM_017890.4(VPS13B):c.4196G>A (p.Gly1399Asp) rs1554824936
NM_017890.4(VPS13B):c.4228_4231dup (p.Arg1411fs) rs1554824976
NM_017890.4(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.4250C>G (p.Pro1417Arg) rs1554825009
NM_017890.4(VPS13B):c.4272C>G (p.Phe1424Leu) rs1554825023
NM_017890.4(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_017890.4(VPS13B):c.4499_4504del (p.Asp1500_Ile1501del) rs1554826499
NM_017890.4(VPS13B):c.4762A>G (p.Met1588Val) rs886062541
NM_017890.4(VPS13B):c.5025-2dup rs1554852944
NM_017890.4(VPS13B):c.5046_5048del (p.Arg1683del) rs770497996
NM_017890.4(VPS13B):c.5152-13G>A rs376055963
NM_017890.4(VPS13B):c.5983+2dup rs587777381
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.8044_8058del (p.Gly2682_Trp2686del) rs1554560677
NM_017890.4(VPS13B):c.8574_8576del (p.Ile2859del) rs1554566693
NM_017890.4(VPS13B):c.8851_8853AAG[1] (p.Lys2952del) rs549810522
NM_017890.4(VPS13B):c.8868-7_8868-6delinsT rs756641209
NM_152564.4(VPS13B):c.4159C>A (p.Pro1387Thr) rs1554824649
NM_152564.4(VPS13B):c.4196T>C (p.Val1399Ala) rs1554824675
NM_152564.4(VPS13B):c.4218_4222dup (p.Val1408fs) rs1554824678
NM_181661.2(VPS13B):c.1246T>C (p.Ter416Gln) rs1554625938

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