ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP
NM_015243.2(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_015243.2(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216
NM_015243.2(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_015243.2(VPS13B):c.1296A>G (p.Thr432=) rs765163542
NM_015243.2(VPS13B):c.1440C>T (p.Phe480=) rs141324814
NM_015243.2(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_015243.2(VPS13B):c.1464G>A (p.Thr488=) rs727504217
NM_015243.2(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291
NM_015243.2(VPS13B):c.1529G>A (p.Arg510His) rs771667880
NM_015243.2(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_015243.2(VPS13B):c.1567A>G (p.Thr523Ala) rs146659631
NM_015243.2(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_015243.2(VPS13B):c.1770G>A (p.Ala590=) rs760564848
NM_015243.2(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_015243.2(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329
NM_015243.2(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616
NM_015243.2(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632
NM_015243.2(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701
NM_015243.2(VPS13B):c.2124T>C (p.Ala708=) rs201650333
NM_015243.2(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274
NM_015243.2(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141
NM_015243.2(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159
NM_015243.2(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788
NM_015243.2(VPS13B):c.524C>G (p.Ser175Cys) rs398124334
NM_015243.2(VPS13B):c.56A>G (p.Lys19Arg) rs200327756
NM_015243.2(VPS13B):c.581-9dup rs60664170
NM_015243.2(VPS13B):c.983A>G (p.His328Arg) rs181625846
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.10388A>G (p.Asn3463Ser) rs146460917
NM_017890.4(VPS13B):c.10543A>G (p.Ile3515Val) rs398124325
NM_017890.4(VPS13B):c.10593A>T (p.Leu3531Phe) rs759427770
NM_017890.4(VPS13B):c.10596C>T (p.Tyr3532=) rs767239312
NM_017890.4(VPS13B):c.10643A>G (p.Tyr3548Cys) rs398124326
NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) rs150767461
NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val) rs145547375
NM_017890.4(VPS13B):c.10828G>A (p.Asp3610Asn) rs1311421082
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11153G>C (p.Ser3718Thr) rs398124327
NM_017890.4(VPS13B):c.11513A>G (p.His3838Arg) rs549702100
NM_017890.4(VPS13B):c.11731G>A (p.Val3911Ile) rs141793014
NM_017890.4(VPS13B):c.11785C>G (p.Gln3929Glu) rs545957190
NM_017890.4(VPS13B):c.11820+5G>A rs398124328
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.11834G>A (p.Arg3945Gln) rs147907236
NM_017890.4(VPS13B):c.11927T>C (p.Ile3976Thr) rs73273219
NM_017890.4(VPS13B):c.2569G>C (p.Glu857Gln) rs886042520
NM_017890.4(VPS13B):c.2651-10T>G rs398124330
NM_017890.4(VPS13B):c.2825-4T>A rs201354177
NM_017890.4(VPS13B):c.2847A>G (p.Ile949Met) rs398124331
NM_017890.4(VPS13B):c.2852G>T (p.Gly951Val) rs770406179
NM_017890.4(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332
NM_017890.4(VPS13B):c.3148G>A (p.Glu1050Lys) rs794727363
NM_017890.4(VPS13B):c.3255G>A (p.Leu1085=) rs371674854
NM_017890.4(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208
NM_017890.4(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.3559G>A (p.Val1187Ile)
NM_017890.4(VPS13B):c.3595A>G (p.Thr1199Ala) rs1563746444
NM_017890.4(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421
NM_017890.4(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021
NM_017890.4(VPS13B):c.3690T>C (p.Thr1230=) rs751715193
NM_017890.4(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.4200C>T (p.Val1400=) rs398124333
NM_017890.4(VPS13B):c.4300-6G>A rs199755508
NM_017890.4(VPS13B):c.4337A>G (p.His1446Arg) rs371961155
NM_017890.4(VPS13B):c.4645G>T (p.Val1549Phe) rs200774003
NM_017890.4(VPS13B):c.4697C>T (p.Pro1566Leu) rs552843068
NM_017890.4(VPS13B):c.4832A>G (p.Asn1611Ser) rs147342579
NM_017890.4(VPS13B):c.5025-9A>G rs373474658
NM_017890.4(VPS13B):c.5030G>A (p.Arg1677Gln) rs138148013
NM_017890.4(VPS13B):c.5360G>A (p.Arg1787His) rs587780498
NM_017890.4(VPS13B):c.5471G>A (p.Arg1824His) rs755227174
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) rs150272676
NM_017890.4(VPS13B):c.5836A>G (p.Thr1946Ala) rs112749780
NM_017890.4(VPS13B):c.5965T>C (p.Ser1989Pro) rs148704031
NM_017890.4(VPS13B):c.6096G>T (p.Gln2032His) rs398124335
NM_017890.4(VPS13B):c.6341G>T (p.Gly2114Val) rs398124336
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6562A>G (p.Ile2188Val) rs794727599
NM_017890.4(VPS13B):c.6706A>C (p.Ile2236Leu) rs369932118
NM_017890.4(VPS13B):c.6729A>G (p.Leu2243=) rs1046756662
NM_017890.4(VPS13B):c.7162A>C (p.Lys2388Gln) rs533701597
NM_017890.4(VPS13B):c.7323C>T (p.Ser2441=) rs886043216
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.7722C>T (p.Phe2574=) rs112634620
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) rs145208175
NM_017890.4(VPS13B):c.7855-19C>T rs199981958
NM_017890.4(VPS13B):c.7997G>A (p.Arg2666His) rs398124338
NM_017890.4(VPS13B):c.8025C>T (p.His2675=) rs61754503
NM_017890.4(VPS13B):c.8248A>G (p.Ile2750Val) rs201127443
NM_017890.4(VPS13B):c.8260G>A (p.Gly2754Arg) rs794727679
NM_017890.4(VPS13B):c.8276G>A (p.Arg2759Gln) rs370701337
NM_017890.4(VPS13B):c.8826G>A (p.Ser2942=) rs775883776
NM_017890.4(VPS13B):c.8851_8853AAG[1] (p.Lys2952del) rs549810522
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.9206A>C (p.Glu3069Ala) rs376652526
NM_017890.4(VPS13B):c.9258+6A>G rs369495448
NM_017890.4(VPS13B):c.9605T>C (p.Leu3202Pro) rs199559979
NM_017890.4(VPS13B):c.9626A>G (p.Glu3209Gly) rs772361332
NM_017890.4(VPS13B):c.9720C>T (p.Leu3240=) rs373968888
NM_017890.4(VPS13B):c.9721G>A (p.Gly3241Arg) rs758775003
NM_017890.4(VPS13B):c.9978G>A (p.Glu3326=) rs150573530
NM_152564.4(VPS13B):c.11885C>A (p.Pro3962His) rs531619892
NM_152564.4(VPS13B):c.6887T>C (p.Val2296Ala) rs727504218

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