ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 478
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 8q22.2(chr8:100073432-100594092)x1
GRCh37/hg19 8q22.2(chr8:100121961-100331982)x1
GRCh37/hg19 8q22.2(chr8:100638488-100732693)x1
GRCh38/hg38 8q22.2(chr8:99278660-99451719)x1
NC_000008.10:g.(?_100025997)_(100133735_?)dup
NC_000008.10:g.(?_100108520)_(100168991_?)del
NC_000008.10:g.(?_100115161)_(100221916_?)del
NC_000008.10:g.(?_100673562)_(100673739_?)del
NM_015243.2(VPS13B):c.1000T>C (p.Tyr334His) rs150464408
NM_015243.2(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_015243.2(VPS13B):c.1073G>A (p.Ser358Asn)
NM_015243.2(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216
NM_015243.2(VPS13B):c.1108G>C (p.Asp370His) rs748531719
NM_015243.2(VPS13B):c.1229G>A (p.Ser410Asn) rs1465978289
NM_015243.2(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_015243.2(VPS13B):c.1261_1272del (p.Lys421_Leu424del) rs1554633843
NM_015243.2(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147
NM_015243.2(VPS13B):c.1296A>G (p.Thr432=) rs765163542
NM_015243.2(VPS13B):c.1302+2dup rs766708621
NM_015243.2(VPS13B):c.1334_1335delinsTT (p.Cys445Phe) rs1563560499
NM_015243.2(VPS13B):c.1425+9G>A rs551460373
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.1526C>G (p.Thr509Ser) rs1445396058
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.1569A>G (p.Thr523=) rs797046094
NM_015243.2(VPS13B):c.1586G>A (p.Gly529Glu)
NM_015243.2(VPS13B):c.1590G>A (p.Met530Ile)
NM_015243.2(VPS13B):c.1594C>T (p.Arg532Trp) rs369930405
NM_015243.2(VPS13B):c.160C>T (p.Pro54Ser) rs1193369148
NM_015243.2(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091
NM_015243.2(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568
NM_015243.2(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536
NM_015243.2(VPS13B):c.1652-9T>A rs375615155
NM_015243.2(VPS13B):c.1666C>G (p.Gln556Glu) rs1554639027
NM_015243.2(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_015243.2(VPS13B):c.1753C>T (p.Arg585Cys) rs769956475
NM_015243.2(VPS13B):c.1754G>A (p.Arg585His) rs773472945
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.1774C>T (p.His592Tyr)
NM_015243.2(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_015243.2(VPS13B):c.1843+10T>C rs371154826
NM_015243.2(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329
NM_015243.2(VPS13B):c.1876C>A (p.Pro626Thr)
NM_015243.2(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537
NM_015243.2(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616
NM_015243.2(VPS13B):c.2033A>G (p.Asn678Ser)
NM_015243.2(VPS13B):c.2034_2036TAC[1] (p.Thr680del) rs1554645561
NM_015243.2(VPS13B):c.2048A>G (p.Gln683Arg)
NM_015243.2(VPS13B):c.2048A>T (p.Gln683Leu)
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.2091A>T (p.Lys697Asn)
NM_015243.2(VPS13B):c.211T>C (p.Trp71Arg) rs886062534
NM_015243.2(VPS13B):c.2124T>C (p.Ala708=) rs201650333
NM_015243.2(VPS13B):c.2282C>A (p.Pro761His)
NM_015243.2(VPS13B):c.232C>A (p.Pro78Thr)
NM_015243.2(VPS13B):c.2356A>G (p.Ile786Val) rs202052403
NM_015243.2(VPS13B):c.236T>C (p.Val79Ala)
NM_015243.2(VPS13B):c.2383A>G (p.Asn795Asp)
NM_015243.2(VPS13B):c.2451T>C (p.His817=) rs114120664
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.2495A>G (p.Asn832Ser)
NM_015243.2(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788
NM_015243.2(VPS13B):c.358A>G (p.Ile120Val) rs201147123
NM_015243.2(VPS13B):c.365C>T (p.Pro122Leu) rs201723380
NM_015243.2(VPS13B):c.37T>C (p.Tyr13His) rs1310676971
NM_015243.2(VPS13B):c.406C>T (p.Pro136Ser) rs757950339
NM_015243.2(VPS13B):c.502G>A (p.Val168Ile) rs750201290
NM_015243.2(VPS13B):c.505C>A (p.Leu169Ile)
NM_015243.2(VPS13B):c.524C>G (p.Ser175Cys) rs398124334
NM_015243.2(VPS13B):c.559C>T (p.Arg187Cys)
NM_015243.2(VPS13B):c.560G>A (p.Arg187His) rs150941426
NM_015243.2(VPS13B):c.56A>G (p.Lys19Arg) rs200327756
NM_015243.2(VPS13B):c.581-9dup rs60664170
NM_015243.2(VPS13B):c.584C>G (p.Thr195Ser) rs770738729
NM_015243.2(VPS13B):c.611A>G (p.Asn204Ser)
NM_015243.2(VPS13B):c.710G>A (p.Arg237His)
NM_015243.2(VPS13B):c.723A>C (p.Thr241=) rs778049327
NM_015243.2(VPS13B):c.78A>G (p.Leu26=) rs745980143
NM_015243.2(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725
NM_015243.2(VPS13B):c.886G>A (p.Glu296Lys) rs886062535
NM_015243.2(VPS13B):c.983A>G (p.His328Arg) rs181625846
NM_017890.4(VPS13B):c.*1105_*1108dupTGAT rs543048641
NM_017890.4(VPS13B):c.*1106_*1108dupGAT rs765534822
NM_017890.4(VPS13B):c.*1207G>C rs182082022
NM_017890.4(VPS13B):c.*1345C>T rs778566330
NM_017890.4(VPS13B):c.*1355T>G rs562826355
NM_017890.4(VPS13B):c.*140G>A rs535987441
NM_017890.4(VPS13B):c.*1483C>A rs886062558
NM_017890.4(VPS13B):c.*1504_*1507dupCTTT rs747583708
NM_017890.4(VPS13B):c.*1540T>C rs148026916
NM_017890.4(VPS13B):c.*202T>A rs201566966
NM_017890.4(VPS13B):c.*270C>T rs886062550
NM_017890.4(VPS13B):c.*305G>A rs149912942
NM_017890.4(VPS13B):c.*705T>C rs886062554
NM_017890.4(VPS13B):c.*733A>T rs886062555
NM_017890.4(VPS13B):c.*740G>C rs886062556
NM_017890.4(VPS13B):c.*743T>G rs144603951
NM_017890.4(VPS13B):c.10017+4A>G
NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) rs116746734
NM_017890.4(VPS13B):c.10018G>T (p.Val3340Phe) rs116746734
NM_017890.4(VPS13B):c.10034G>T (p.Gly3345Val) rs1563506534
NM_017890.4(VPS13B):c.10086C>G (p.Ile3362Met) rs542986432
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10144G>A (p.Glu3382Lys) rs1563509434
NM_017890.4(VPS13B):c.10175C>A (p.Thr3392Asn) rs759636784
NM_017890.4(VPS13B):c.10204C>T (p.Leu3402Phe) rs535553836
NM_017890.4(VPS13B):c.10244C>T (p.Thr3415Ile) rs767783667
NM_017890.4(VPS13B):c.10250_10252ACA[1] (p.Asn3418del) rs1554581280
NM_017890.4(VPS13B):c.10274C>T (p.Pro3425Leu) rs368041601
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.10427_10429del (p.Ala3476del) rs1554581420
NM_017890.4(VPS13B):c.10459C>T (p.Leu3487Phe) rs761972356
NM_017890.4(VPS13B):c.10501T>C (p.Cys3501Arg) rs886062549
NM_017890.4(VPS13B):c.10543A>G (p.Ile3515Val) rs398124325
NM_017890.4(VPS13B):c.10553A>G (p.Asp3518Gly) rs587780497
NM_017890.4(VPS13B):c.10588C>T (p.Arg3530Trp)
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.10597G>A (p.Val3533Met) rs142957181
NM_017890.4(VPS13B):c.10615T>C (p.Tyr3539His)
NM_017890.4(VPS13B):c.10620C>A (p.Tyr3540Ter) rs758842658
NM_017890.4(VPS13B):c.10624A>G (p.Lys3542Glu) rs143187571
NM_017890.4(VPS13B):c.10631T>C (p.Leu3544Ser) rs1563510051
NM_017890.4(VPS13B):c.10640C>T (p.Thr3547Ile) rs781253026
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.10701G>A (p.Val3567=) rs139227281
NM_017890.4(VPS13B):c.10718C>T (p.Thr3573Ile)
NM_017890.4(VPS13B):c.10738G>A (p.Val3580Met) rs745866775
NM_017890.4(VPS13B):c.10756C>T (p.Arg3586Trp)
NM_017890.4(VPS13B):c.10757G>A (p.Arg3586Gln) rs549125520
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.10830C>T (p.Asp3610=) rs145950999
NM_017890.4(VPS13B):c.10920C>T (p.Ala3640=) rs781485612
NM_017890.4(VPS13B):c.10960_10962del (p.Leu3654del) rs1554583497
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11007C>T (p.Asn3669=) rs745337140
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11014G>A (p.Ala3672Thr)
NM_017890.4(VPS13B):c.11017G>A (p.Asp3673Asn)
NM_017890.4(VPS13B):c.11053G>A (p.Gly3685Ser)
NM_017890.4(VPS13B):c.11119+5C>T
NM_017890.4(VPS13B):c.11119+6G>A
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11153G>C (p.Ser3718Thr) rs398124327
NM_017890.4(VPS13B):c.11162G>A (p.Arg3721Gln) rs757726642
NM_017890.4(VPS13B):c.11189A>T (p.Glu3730Val) rs376308074
NM_017890.4(VPS13B):c.11209_11211GAG[1] (p.Glu3738del) rs781133717
NM_017890.4(VPS13B):c.11218C>T (p.Arg3740Trp) rs772640414
NM_017890.4(VPS13B):c.11221C>T (p.Arg3741Trp)
NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) rs150393340
NM_017890.4(VPS13B):c.11245G>A (p.Glu3749Lys)
NM_017890.4(VPS13B):c.11255G>A (p.Arg3752Gln) rs913075497
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11293G>A (p.Ala3765Thr)
NM_017890.4(VPS13B):c.11298T>G (p.Ile3766Met) rs267601674
NM_017890.4(VPS13B):c.11350C>G (p.Gln3784Glu) rs797046093
NM_017890.4(VPS13B):c.11387C>T (p.Ser3796Leu) rs142516047
NM_017890.4(VPS13B):c.11413G>T (p.Val3805Leu) rs138565077
NM_017890.4(VPS13B):c.11513A>G (p.His3838Arg) rs549702100
NM_017890.4(VPS13B):c.11549A>G (p.Asn3850Ser) rs199741560
NM_017890.4(VPS13B):c.11566_11568dup (p.Val3856dup) rs1554588147
NM_017890.4(VPS13B):c.11570+4A>G rs1563519738
NM_017890.4(VPS13B):c.11570+6A>G rs116546060
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
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.11807C>T (p.Ala3936Val)
NM_017890.4(VPS13B):c.11820+4C>T rs751045565
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.11858_11860ACA[1] (p.Asn3954del) rs1554590369
NM_017890.4(VPS13B):c.11862C>T (p.Asn3954=) rs147710096
NM_017890.4(VPS13B):c.11889_11891dup (p.Ser3964dup) rs1236948038
NM_017890.4(VPS13B):c.11906C>A (p.Pro3969His) rs1010334738
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.11927T>C (p.Ile3976Thr) rs73273219
NM_017890.4(VPS13B):c.11959C>G (p.Pro3987Ala) rs201483764
NM_017890.4(VPS13B):c.11960C>G (p.Pro3987Arg) rs531619892
NM_017890.4(VPS13B):c.11967_11970dup (p.Lys3991delinsCysTer) rs1554590486
NM_017890.4(VPS13B):c.11972A>T (p.Lys3991Ile) rs117934093
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.2518G>A (p.Val840Met)
NM_017890.4(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530
NM_017890.4(VPS13B):c.2569G>C (p.Glu857Gln) rs886042520
NM_017890.4(VPS13B):c.2579_2584dup (p.Ser862_Thr863insAsnCys) rs1554706171
NM_017890.4(VPS13B):c.2583C>T (p.Cys861=) rs199868590
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2609C>T (p.Ser870Phe)
NM_017890.4(VPS13B):c.2617A>G (p.Met873Val)
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2651-10T>G rs398124330
NM_017890.4(VPS13B):c.2651-12A>G rs886062538
NM_017890.4(VPS13B):c.2673G>T (p.Leu891Phe) rs770484465
NM_017890.4(VPS13B):c.2677C>A (p.Pro893Thr)
NM_017890.4(VPS13B):c.2687A>G (p.Gln896Arg)
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.2752T>C (p.Ser918Pro) rs886062539
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2764C>T (p.Pro922Ser) rs371120818
NM_017890.4(VPS13B):c.2765C>T (p.Pro922Leu) rs1378379268
NM_017890.4(VPS13B):c.2785A>G (p.Ile929Val) rs1222718209
NM_017890.4(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_017890.4(VPS13B):c.2823C>T (p.Ser941=) rs199881514
NM_017890.4(VPS13B):c.2825-4T>A rs201354177
NM_017890.4(VPS13B):c.2830G>T (p.Val944Leu) rs753607562
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.2880A>T (p.Leu960Phe)
NM_017890.4(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332
NM_017890.4(VPS13B):c.2917A>G (p.Ser973Gly)
NM_017890.4(VPS13B):c.2935-4C>T rs207469601
NM_017890.4(VPS13B):c.2993T>G (p.Val998Gly)
NM_017890.4(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3083-8G>A rs201973611
NM_017890.4(VPS13B):c.3083-9C>T rs376659281
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3118T>A (p.Leu1040Met)
NM_017890.4(VPS13B):c.3148G>A (p.Glu1050Lys) rs794727363
NM_017890.4(VPS13B):c.3200T>C (p.Leu1067Pro) rs1563727071
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=)
NM_017890.4(VPS13B):c.3211-11T>C rs77129176
NM_017890.4(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) rs34961653
NM_017890.4(VPS13B):c.3249T>G (p.Asp1083Glu) rs1196083061
NM_017890.4(VPS13B):c.3255G>A (p.Leu1085=) rs371674854
NM_017890.4(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494
NM_017890.4(VPS13B):c.3297A>C (p.Thr1099=) rs200982547
NM_017890.4(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208
NM_017890.4(VPS13B):c.3366G>C (p.Lys1122Asn) rs752453891
NM_017890.4(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) rs1554793589
NM_017890.4(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_017890.4(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701
NM_017890.4(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_017890.4(VPS13B):c.3482T>G (p.Phe1161Cys) rs1563746308
NM_017890.4(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) rs1554806874
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.3662C>A (p.Pro1221His) rs757707584
NM_017890.4(VPS13B):c.3667-5C>G rs886062540
NM_017890.4(VPS13B):c.3690T>C (p.Thr1230=) rs751715193
NM_017890.4(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278
NM_017890.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_017890.4(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_017890.4(VPS13B):c.3784A>G (p.Thr1262Ala)
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.3813A>G (p.Thr1271=) rs775071483
NM_017890.4(VPS13B):c.3839G>T (p.Ser1280Ile)
NM_017890.4(VPS13B):c.3860C>G (p.Thr1287Ser) rs966120122
NM_017890.4(VPS13B):c.3865A>G (p.Thr1289Ala) rs752808333
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
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.4200C>T (p.Val1400=) rs398124333
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.4300-6G>A rs199755508
NM_017890.4(VPS13B):c.4329T>G (p.His1443Gln) rs201349007
NM_017890.4(VPS13B):c.4337A>G (p.His1446Arg) rs371961155
NM_017890.4(VPS13B):c.4377_4379dup (p.Lys1459dup)
NM_017890.4(VPS13B):c.4385G>A (p.Arg1462His)
NM_017890.4(VPS13B):c.4431A>T (p.Leu1477Phe)
NM_017890.4(VPS13B):c.4469A>T (p.His1490Leu)
NM_017890.4(VPS13B):c.4499_4504del (p.Asp1500_Ile1501del) rs1554826499
NM_017890.4(VPS13B):c.4592G>A (p.Gly1531Asp) rs140797231
NM_017890.4(VPS13B):c.4626C>G (p.Arg1542=) rs150376603
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.4708+8C>G rs1554826671
NM_017890.4(VPS13B):c.4720G>A (p.Ala1574Thr)
NM_017890.4(VPS13B):c.4762A>G (p.Met1588Val) rs886062541
NM_017890.4(VPS13B):c.4786C>T (p.Leu1596Phe)
NM_017890.4(VPS13B):c.4821-7T>C rs201136777
NM_017890.4(VPS13B):c.4832A>G (p.Asn1611Ser) rs147342579
NM_017890.4(VPS13B):c.4847G>A (p.Arg1616Gln) rs754267693
NM_017890.4(VPS13B):c.4876C>G (p.Gln1626Glu)
NM_017890.4(VPS13B):c.4916C>A (p.Ala1639Glu)
NM_017890.4(VPS13B):c.4936C>T (p.Pro1646Ser) rs563705133
NM_017890.4(VPS13B):c.4949G>T (p.Ser1650Ile) rs1014154776
NM_017890.4(VPS13B):c.4951G>A (p.Val1651Ile)
NM_017890.4(VPS13B):c.4962G>T (p.Gly1654=)
NM_017890.4(VPS13B):c.5025-2dup rs1554852944
NM_017890.4(VPS13B):c.5025-9A>G rs373474658
NM_017890.4(VPS13B):c.5030G>A (p.Arg1677Gln) rs138148013
NM_017890.4(VPS13B):c.5046_5048del (p.Arg1683del) rs770497996
NM_017890.4(VPS13B):c.5087G>A (p.Arg1696Gln)
NM_017890.4(VPS13B):c.5150A>G (p.Glu1717Gly)
NM_017890.4(VPS13B):c.5152-13G>A rs376055963
NM_017890.4(VPS13B):c.5162T>C (p.Val1721Ala) rs878852995
NM_017890.4(VPS13B):c.5168G>T (p.Gly1723Val) rs368362777
NM_017890.4(VPS13B):c.5281A>G (p.Asn1761Asp)
NM_017890.4(VPS13B):c.5287G>C (p.Ala1763Pro)
NM_017890.4(VPS13B):c.5323G>A (p.Asp1775Asn) rs1241714095
NM_017890.4(VPS13B):c.5324A>G (p.Asp1775Gly)
NM_017890.4(VPS13B):c.5344G>A (p.Ala1782Thr) rs146540735
NM_017890.4(VPS13B):c.5360G>A (p.Arg1787His) rs587780498
NM_017890.4(VPS13B):c.5401G>T (p.Val1801Phe) rs547179338
NM_017890.4(VPS13B):c.5452C>T (p.Arg1818Cys) rs760207080
NM_017890.4(VPS13B):c.5453G>A (p.Arg1818His) rs763703607
NM_017890.4(VPS13B):c.5470C>T (p.Arg1824Cys)
NM_017890.4(VPS13B):c.5471G>A (p.Arg1824His) rs755227174
NM_017890.4(VPS13B):c.5513_5527del (p.Asp1838_Thr1842del) rs1057519183
NM_017890.4(VPS13B):c.5647G>A (p.Asp1883Asn) rs886062542
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.5687C>A (p.Thr1896Lys)
NM_017890.4(VPS13B):c.5738T>C (p.Ile1913Thr) rs779082817
NM_017890.4(VPS13B):c.5750C>T (p.Ser1917Phe)
NM_017890.4(VPS13B):c.5776A>G (p.Arg1926Gly)
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.5878T>G (p.Ser1960Ala) rs138930771
NM_017890.4(VPS13B):c.5890T>G (p.Leu1964Val) rs751559027
NM_017890.4(VPS13B):c.5959G>T (p.Val1987Leu) rs375399419
NM_017890.4(VPS13B):c.5965T>C (p.Ser1989Pro) rs148704031
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.5983+14A>C rs886062543
NM_017890.4(VPS13B):c.5983+2dupT rs587777381
NM_017890.4(VPS13B):c.6096G>T (p.Gln2032His) rs398124335
NM_017890.4(VPS13B):c.6122C>T (p.Ala2041Val)
NM_017890.4(VPS13B):c.6131A>G (p.Asn2044Ser)
NM_017890.4(VPS13B):c.6157G>C (p.Ala2053Pro)
NM_017890.4(VPS13B):c.6253A>G (p.Met2085Val)
NM_017890.4(VPS13B):c.6341G>T (p.Gly2114Val) rs398124336
NM_017890.4(VPS13B):c.6349A>C (p.Lys2117Gln) rs1422079821
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6512C>T (p.Ala2171Val)
NM_017890.4(VPS13B):c.6562A>G (p.Ile2188Val) rs794727599
NM_017890.4(VPS13B):c.6605G>A (p.Arg2202His)
NM_017890.4(VPS13B):c.6614T>C (p.Ile2205Thr)
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.6743G>A (p.Gly2248Asp) rs189948782
NM_017890.4(VPS13B):c.6751C>T (p.His2251Tyr) rs747340772
NM_017890.4(VPS13B):c.6773T>G (p.Leu2258Arg) rs776873589
NM_017890.4(VPS13B):c.6788A>G (p.Asn2263Ser)
NM_017890.4(VPS13B):c.7006A>G (p.Met2336Val) rs797046095
NM_017890.4(VPS13B):c.7115A>G (p.Asp2372Gly) rs1563881705
NM_017890.4(VPS13B):c.7126-1G>A rs930144563
NM_017890.4(VPS13B):c.7162A>C (p.Lys2388Gln) rs533701597
NM_017890.4(VPS13B):c.7163A>G (p.Lys2388Arg) rs778935189
NM_017890.4(VPS13B):c.7226C>T (p.Pro2409Leu) rs183874686
NM_017890.4(VPS13B):c.7270G>A (p.Asp2424Asn) rs1563907935
NM_017890.4(VPS13B):c.7322+9T>C rs545008110
NM_017890.4(VPS13B):c.7323C>T (p.Ser2441=) rs886043216
NM_017890.4(VPS13B):c.7337C>G (p.Ser2446Cys)
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.7547T>G (p.Met2516Arg)
NM_017890.4(VPS13B):c.7551A>G (p.Pro2517=) rs913138802
NM_017890.4(VPS13B):c.7654G>A (p.Ala2552Thr)
NM_017890.4(VPS13B):c.7722C>T (p.Phe2574=) rs112634620
NM_017890.4(VPS13B):c.7735G>C (p.Val2579Leu) rs202226215
NM_017890.4(VPS13B):c.7744G>A (p.Asp2582Asn)
NM_017890.4(VPS13B):c.7750G>T (p.Val2584Leu) rs144668374
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
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.7867G>A (p.Glu2623Lys)
NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) rs144350008
NM_017890.4(VPS13B):c.7925T>C (p.Leu2642Pro) rs1563916076
NM_017890.4(VPS13B):c.7928G>A (p.Arg2643Gln) rs569563358
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_017890.4(VPS13B):c.7955A>C (p.Asn2652Thr) rs886062544
NM_017890.4(VPS13B):c.7967C>T (p.Ala2656Val) rs768459862
NM_017890.4(VPS13B):c.7971T>A (p.Ser2657Arg) rs1563916146
NM_017890.4(VPS13B):c.7987T>C (p.Tyr2663His) rs761563766
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.8026A>G (p.Ile2676Val)
NM_017890.4(VPS13B):c.8044_8058del (p.Gly2682_Trp2686del) rs1554560677
NM_017890.4(VPS13B):c.8074G>A (p.Val2692Met) rs1250056053
NM_017890.4(VPS13B):c.8150A>C (p.Gln2717Pro)
NM_017890.4(VPS13B):c.8234T>C (p.Val2745Ala) rs369898130
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
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.8323A>G (p.Ile2775Val) rs1465869942
NM_017890.4(VPS13B):c.8327T>C (p.Leu2776Pro) rs1563488848
NM_017890.4(VPS13B):c.8330A>G (p.Glu2777Gly) rs1563488856
NM_017890.4(VPS13B):c.8356G>T (p.Val2786Leu) rs886062545
NM_017890.4(VPS13B):c.8395T>C (p.Cys2799Arg) rs1554565672
NM_017890.4(VPS13B):c.8428G>A (p.Val2810Ile)
NM_017890.4(VPS13B):c.8436+12C>T rs886062546
NM_017890.4(VPS13B):c.8465A>G (p.Tyr2822Cys) rs371325199
NM_017890.4(VPS13B):c.8498A>G (p.Asn2833Ser)
NM_017890.4(VPS13B):c.8501C>G (p.Ser2834Cys)
NM_017890.4(VPS13B):c.8524G>A (p.Val2842Met) rs1362379578
NM_017890.4(VPS13B):c.8572A>G (p.Ile2858Val) rs797046096
NM_017890.4(VPS13B):c.8573T>G (p.Ile2858Ser) rs1231452283
NM_017890.4(VPS13B):c.8574_8576del (p.Ile2859del) rs1554566693
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.8708A>T (p.Asp2903Val) rs1563490033
NM_017890.4(VPS13B):c.8714C>T (p.Ser2905Leu)
NM_017890.4(VPS13B):c.8755A>G (p.Ile2919Val)
NM_017890.4(VPS13B):c.8814G>T (p.Gly2938=) rs797046097
NM_017890.4(VPS13B):c.8825C>T (p.Ser2942Leu)
NM_017890.4(VPS13B):c.8826G>A (p.Ser2942=) rs775883776
NM_017890.4(VPS13B):c.8833C>T (p.Pro2945Ser) rs1554567542
NM_017890.4(VPS13B):c.8851_8853AAG[1] (p.Lys2952del) rs549810522
NM_017890.4(VPS13B):c.8868-12T>A rs189516672
NM_017890.4(VPS13B):c.8868-7G>A rs886062547
NM_017890.4(VPS13B):c.8868-7_8868-6delGGinsT rs756641209
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.9175G>A (p.Gly3059Ser) rs778256097
NM_017890.4(VPS13B):c.9206A>C (p.Glu3069Ala) rs376652526
NM_017890.4(VPS13B):c.9258+6A>G rs369495448
NM_017890.4(VPS13B):c.9295G>A (p.Gly3099Ser)
NM_017890.4(VPS13B):c.9320A>G (p.Asp3107Gly) rs1563492523
NM_017890.4(VPS13B):c.9342T>C (p.Asn3114=) rs886062548
NM_017890.4(VPS13B):c.9368_9370dup (p.Pro3123dup) rs1182385860
NM_017890.4(VPS13B):c.9414T>A (p.Arg3138=) rs78277780
NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) rs113671330
NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) rs745668942
NM_017890.4(VPS13B):c.9488G>A (p.Cys3163Tyr)
NM_017890.4(VPS13B):c.9500T>C (p.Met3167Thr)
NM_017890.4(VPS13B):c.9538C>T (p.Leu3180Phe)
NM_017890.4(VPS13B):c.9592C>T (p.Gln3198Ter) rs1554573990
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.9643G>C (p.Val3215Leu)
NM_017890.4(VPS13B):c.9658G>A (p.Gly3220Arg) rs772658121
NM_017890.4(VPS13B):c.9668G>A (p.Arg3223Gln) rs544366805
NM_017890.4(VPS13B):c.9678A>G (p.Gly3226=) rs564362618
NM_017890.4(VPS13B):c.9683G>A (p.Cys3228Tyr)
NM_017890.4(VPS13B):c.9689+8A>T rs1554574118
NM_017890.4(VPS13B):c.9698T>C (p.Val3233Ala) rs1563499365
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.9761G>A (p.Arg3254Gln) rs769856598
NM_017890.4(VPS13B):c.9859G>A (p.Glu3287Lys) rs756531043
NM_017890.4(VPS13B):c.9906G>A (p.Pro3302=) rs775601813
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.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_152564.4(VPS13B):c.6887T>C (p.Val2296Ala) rs727504218
NM_181661.2(VPS13B):c.1246T>C (p.Ter416Gln) rs1554625938

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.