ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 432
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00110
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00067
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00048
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00042
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile) rs376498106 0.00042
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) rs376308074 0.00027
NM_152564.5(VPS13B):c.6752T>C (p.Val2251Ala) rs147576864 0.00024
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly) rs143295587 0.00023
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00019
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00019
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00019
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00018
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00018
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) rs147099791 0.00016
NM_152564.5(VPS13B):c.4254T>G (p.His1418Gln) rs201349007 0.00015
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.8104A>T (p.Ile2702Phe) rs774565889 0.00014
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00013
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00013
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu) rs139732310 0.00013
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00013
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.4549C>T (p.Arg1517Cys) rs375652507 0.00011
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676 0.00011
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00010
NM_152564.5(VPS13B):c.3088C>T (p.Arg1030Cys) rs374072699 0.00010
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) rs374124369 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 0.00009
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys) rs180177372 0.00008
NM_152564.5(VPS13B):c.347C>G (p.Thr116Arg) rs762421764 0.00008
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) rs552843068 0.00008
NM_152564.5(VPS13B):c.560G>A (p.Arg187His) rs150941426 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00007
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00007
NM_152564.5(VPS13B):c.8177G>A (p.Gly2726Asp) rs376283724 0.00007
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His) rs150464408 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_152564.5(VPS13B):c.2137C>T (p.His713Tyr) rs796181999 0.00006
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670 0.00006
NM_152564.5(VPS13B):c.367C>T (p.Arg123Trp) rs551933357 0.00006
NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr) rs189689493 0.00006
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr) rs528991858 0.00005
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr) rs868118584 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.4121A>C (p.Lys1374Thr) rs748331172 0.00005
NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser) rs201363767 0.00005
NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser) rs764775015 0.00005
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu) rs183874686 0.00005
NM_152564.5(VPS13B):c.7623T>A (p.Ser2541Arg) rs754632431 0.00005
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) rs140061281 0.00005
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser) rs368357351 0.00005
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00005
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln) rs544366805 0.00005
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr) rs149659649 0.00004
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) rs370172252 0.00004
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) rs369891888 0.00004
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys) rs747131665 0.00004
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser) rs370336663 0.00004
NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu) rs576973103 0.00004
NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe) rs61754112 0.00004
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly) rs1288339042 0.00004
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile) rs529286193 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys) rs774677234 0.00004
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) rs374298481 0.00004
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) rs369932118 0.00004
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp) rs781460252 0.00004
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) rs750125340 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys) rs371325199 0.00004
NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg) rs373773690 0.00003
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile) rs781253026 0.00003
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu) rs781672013 0.00003
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile) rs750693109 0.00003
NM_152564.5(VPS13B):c.10670C>T (p.Pro3557Leu) rs866169695 0.00003
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) rs116951775 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_152564.5(VPS13B):c.11086C>T (p.Arg3696Trp) rs147891367 0.00003
NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro) rs138012121 0.00003
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly) rs112858205 0.00003
NM_152564.5(VPS13B):c.2628A>G (p.Ile876Met) rs1198845715 0.00003
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met) rs750709127 0.00003
NM_152564.5(VPS13B):c.3128C>A (p.Ser1043Tyr) rs376330680 0.00003
NM_152564.5(VPS13B):c.3211C>T (p.Leu1071Phe) rs547144228 0.00003
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208 0.00003
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His) rs200229383 0.00003
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val) rs578203757 0.00003
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln) rs751699219 0.00003
NM_152564.5(VPS13B):c.5660A>C (p.Lys1887Thr) rs757219665 0.00003
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 0.00003
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) rs1226670439 0.00003
NM_152564.5(VPS13B):c.7529G>A (p.Arg2510Gln) rs146092684 0.00003
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00003
NM_152564.5(VPS13B):c.8710G>A (p.Val2904Ile) rs750349908 0.00003
NM_152564.5(VPS13B):c.9827A>G (p.Tyr3276Cys) rs563162284 0.00003
NM_152564.5(VPS13B):c.9917T>C (p.Ile3306Thr) rs139575184 0.00003
NM_152564.5(VPS13B):c.10135C>T (p.His3379Tyr) rs377394274 0.00002
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn) rs748727467 0.00002
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) rs549702100 0.00002
NM_152564.5(VPS13B):c.11463C>G (p.Asp3821Glu) rs766279618 0.00002
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr) rs768721417 0.00002
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530 0.00002
NM_152564.5(VPS13B):c.3673C>G (p.Leu1225Val) rs1343599639 0.00002
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924 0.00002
NM_152564.5(VPS13B):c.4045G>T (p.Val1349Phe) rs780981868 0.00002
NM_152564.5(VPS13B):c.4224+620_4224+622del rs758324072 0.00002
NM_152564.5(VPS13B):c.4325C>T (p.Ser1442Leu) rs751646100 0.00002
NM_152564.5(VPS13B):c.4777C>A (p.Pro1593Thr) rs954564707 0.00002
NM_152564.5(VPS13B):c.5120C>T (p.Thr1707Ile) rs1430604594 0.00002
NM_152564.5(VPS13B):c.5235A>C (p.Glu1745Asp) rs751179813 0.00002
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys) rs751912986 0.00002
NM_152564.5(VPS13B):c.5740C>T (p.Arg1914Trp) rs141608582 0.00002
NM_152564.5(VPS13B):c.6507A>C (p.Lys2169Asn) rs1367000031 0.00002
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg) rs778935189 0.00002
NM_152564.5(VPS13B):c.725A>T (p.Tyr242Phe) rs749404997 0.00002
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg) rs780332587 0.00002
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu) rs760166376 0.00002
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr) rs748030120 0.00002
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00002
NM_152564.5(VPS13B):c.9788G>A (p.Cys3263Tyr) rs749573516 0.00002
NM_017890.5(VPS13B):c.4243G>C (p.Val1415Leu) rs1216652778 0.00001
NM_152564.5(VPS13B):c.-2A>G rs550982475 0.00001
NM_152564.5(VPS13B):c.10190G>C (p.Cys3397Ser) rs1032791315 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His) rs773013716 0.00001
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met) rs745866775 0.00001
NM_152564.5(VPS13B):c.10681C>T (p.Arg3561Trp) rs200232124 0.00001
NM_152564.5(VPS13B):c.10710G>T (p.Leu3570Phe) rs753058180 0.00001
NM_152564.5(VPS13B):c.10825G>A (p.Ala3609Thr) rs769606496 0.00001
NM_152564.5(VPS13B):c.11047A>G (p.Thr3683Ala) rs1253597480 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp) rs772640414 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.11302G>C (p.Gly3768Arg) rs760922656 0.00001
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) rs529932207 0.00001
NM_152564.5(VPS13B):c.11542G>C (p.Asp3848His) rs558917637 0.00001
NM_152564.5(VPS13B):c.11545G>A (p.Val3849Met) rs781773703 0.00001
NM_152564.5(VPS13B):c.11644C>G (p.Gln3882Glu) rs1322613165 0.00001
NM_152564.5(VPS13B):c.1189G>T (p.Ala397Ser) rs763839770 0.00001
NM_152564.5(VPS13B):c.11925T>G (p.His3975Gln) rs896542627 0.00001
NM_152564.5(VPS13B):c.1229G>A (p.Ser410Asn) rs1465978289 0.00001
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu) rs774113287 0.00001
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr) rs1431957435 0.00001
NM_152564.5(VPS13B):c.147+3A>G rs772550162 0.00001
NM_152564.5(VPS13B):c.149A>C (p.Glu50Ala) rs1432079296 0.00001
NM_152564.5(VPS13B):c.1558C>G (p.His520Asp) rs925201237 0.00001
NM_152564.5(VPS13B):c.1586G>A (p.Gly529Glu) rs750429731 0.00001
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536 0.00001
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys) rs769956475 0.00001
NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala) rs753616467 0.00001
NM_152564.5(VPS13B):c.1925G>A (p.Ser642Asn) rs1007410442 0.00001
NM_152564.5(VPS13B):c.2006G>A (p.Gly669Glu) rs768668368 0.00001
NM_152564.5(VPS13B):c.2156C>T (p.Thr719Ile) rs756035999 0.00001
NM_152564.5(VPS13B):c.2289C>A (p.Phe763Leu) rs755882379 0.00001
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala) rs779218452 0.00001
NM_152564.5(VPS13B):c.2383A>G (p.Asn795Asp) rs781012935 0.00001
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg) rs1229393575 0.00001
NM_152564.5(VPS13B):c.2542A>G (p.Thr848Ala) rs745738175 0.00001
NM_152564.5(VPS13B):c.2765C>T (p.Pro922Leu) rs1378379268 0.00001
NM_152564.5(VPS13B):c.2797C>G (p.Gln933Glu) rs773412105 0.00001
NM_152564.5(VPS13B):c.3082+5G>A rs753290752 0.00001
NM_152564.5(VPS13B):c.3106G>A (p.Val1036Ile) rs745742179 0.00001
NM_152564.5(VPS13B):c.3271A>G (p.Ile1091Val) rs780930460 0.00001
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys) rs368290618 0.00001
NM_152564.5(VPS13B):c.3366G>C (p.Lys1122Asn) rs752453891 0.00001
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln) rs1279523650 0.00001
NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser) rs527263178 0.00001
NM_152564.5(VPS13B):c.386C>T (p.Ala129Val) rs753598906 0.00001
NM_152564.5(VPS13B):c.4015G>T (p.Ala1339Ser) rs746316940 0.00001
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser) rs757950339 0.00001
NM_152564.5(VPS13B):c.4379C>T (p.Ser1460Phe) rs763285164 0.00001
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile) rs1457753544 0.00001
NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His) rs760899771 0.00001
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr) rs750053756 0.00001
NM_152564.5(VPS13B):c.4841C>A (p.Ala1614Glu) rs1002672196 0.00001
NM_152564.5(VPS13B):c.4889T>C (p.Val1630Ala) rs769608908 0.00001
NM_152564.5(VPS13B):c.4946G>A (p.Ser1649Asn) rs953169134 0.00001
NM_152564.5(VPS13B):c.5076+5G>C rs202238341 0.00001
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr) rs200878381 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 0.00001
NM_152564.5(VPS13B):c.5212G>C (p.Ala1738Pro) rs572817378 0.00001
NM_152564.5(VPS13B):c.5249A>G (p.Asp1750Gly) rs767031340 0.00001
NM_152564.5(VPS13B):c.5251A>G (p.Ile1751Val) rs757833793 0.00001
NM_152564.5(VPS13B):c.5422A>C (p.Asn1808His) rs891967669 0.00001
NM_152564.5(VPS13B):c.572A>G (p.Asp191Gly) rs780314838 0.00001
NM_152564.5(VPS13B):c.5818C>G (p.Leu1940Val) rs781154165 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.5968C>G (p.Pro1990Ala) rs1182628111 0.00001
NM_152564.5(VPS13B):c.6154G>A (p.Ala2052Thr) rs765025227 0.00001
NM_152564.5(VPS13B):c.6168G>C (p.Glu2056Asp) rs751094528 0.00001
NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val) rs200711677 0.00001
NM_152564.5(VPS13B):c.6190A>G (p.Met2064Val) rs200554315 0.00001
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn) rs1056435586 0.00001
NM_152564.5(VPS13B):c.6268G>A (p.Val2090Met) rs773027253 0.00001
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile) rs766003681 0.00001
NM_152564.5(VPS13B):c.6527G>A (p.Ser2176Asn) rs767664311 0.00001
NM_152564.5(VPS13B):c.6556A>G (p.Thr2186Ala) rs532297738 0.00001
NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg) rs768005455 0.00001
NM_152564.5(VPS13B):c.6569A>G (p.Glu2190Gly) rs2491562155 0.00001
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg) rs148385830 0.00001
NM_152564.5(VPS13B):c.7262C>G (p.Ser2421Cys) rs1016168403 0.00001
NM_152564.5(VPS13B):c.7519A>G (p.Met2507Val) rs1467331063 0.00001
NM_152564.5(VPS13B):c.7622G>T (p.Ser2541Ile) rs762137925 0.00001
NM_152564.5(VPS13B):c.7688T>G (p.Leu2563Arg) rs759385151 0.00001
NM_152564.5(VPS13B):c.7945T>G (p.Leu2649Val) rs533426135 0.00001
NM_152564.5(VPS13B):c.8023A>G (p.Arg2675Gly) rs770879393 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val) rs1465869942 0.00001
NM_152564.5(VPS13B):c.825T>G (p.Ile275Met) rs769413380 0.00001
NM_152564.5(VPS13B):c.8264A>C (p.Glu2755Ala) rs1444225206 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.8293G>A (p.Gly2765Arg) rs750963582 0.00001
NM_152564.5(VPS13B):c.8294G>A (p.Gly2765Glu) rs372979537 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_152564.5(VPS13B):c.8449G>A (p.Val2817Met) rs1362379578 0.00001
NM_152564.5(VPS13B):c.8529G>C (p.Leu2843Phe) rs1814196490 0.00001
NM_152564.5(VPS13B):c.8630A>G (p.Tyr2877Cys) rs769457013 0.00001
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) rs1272294316 0.00001
NM_152564.5(VPS13B):c.8737G>T (p.Gly2913Trp) rs772913211 0.00001
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr) rs1305759367 0.00001
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) rs376291996 0.00001
NM_152564.5(VPS13B):c.9253A>G (p.Thr3085Ala) rs767105242 0.00001
NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr) rs1815134599 0.00001
NM_152564.5(VPS13B):c.9475A>G (p.Ile3159Val) rs905882677 0.00001
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) rs772361332 0.00001
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln) rs769856598 0.00001
NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg) rs558911841 0.00001
NM_017890.5(VPS13B):c.4166A>G (p.Glu1389Gly) rs2490496698
NM_017890.5(VPS13B):c.4172G>A (p.Cys1391Tyr) rs1192215872
NM_152564.5(VPS13B):c.10013C>A (p.Thr3338Asn)
NM_152564.5(VPS13B):c.10055C>T (p.Thr3352Ile) rs1816115927
NM_152564.5(VPS13B):c.10133C>T (p.Thr3378Ile) rs1374537964
NM_152564.5(VPS13B):c.10307A>C (p.Lys3436Thr) rs1816407508
NM_152564.5(VPS13B):c.10382G>A (p.Ser3461Asn) rs1816412271
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val) rs398124325
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu) rs781420614
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.10556T>C (p.Leu3519Ser) rs1563510051
NM_152564.5(VPS13B):c.10585T>G (p.Leu3529Val) rs772049732
NM_152564.5(VPS13B):c.1061C>T (p.Pro354Leu) rs1274673849
NM_152564.5(VPS13B):c.10634T>A (p.Met3545Lys) rs1816426749
NM_152564.5(VPS13B):c.10720A>C (p.Ile3574Leu) rs1816431236
NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr) rs779069069
NM_152564.5(VPS13B):c.10775C>T (p.Ser3592Leu) rs2492240729
NM_152564.5(VPS13B):c.10778T>G (p.Val3593Gly) rs2492240769
NM_152564.5(VPS13B):c.10961A>G (p.Tyr3654Cys) rs774678400
NM_152564.5(VPS13B):c.10976G>T (p.Arg3659Leu) rs370507425
NM_152564.5(VPS13B):c.11084C>G (p.Ala3695Gly) rs2492299562
NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln) rs750753561
NM_152564.5(VPS13B):c.11219C>T (p.Ala3740Val)
NM_152564.5(VPS13B):c.11401C>T (p.His3801Tyr) rs1817365541
NM_152564.5(VPS13B):c.11495+4A>G rs1563519738
NM_152564.5(VPS13B):c.11500A>G (p.Met3834Val) rs2492375959
NM_152564.5(VPS13B):c.11581G>A (p.Gly3861Arg) rs774369930
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11707G>C (p.Val3903Leu)
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11773G>C (p.Glu3925Gln) rs2492411173
NM_152564.5(VPS13B):c.11890A>G (p.Thr3964Ala)
NM_152564.5(VPS13B):c.11934G>C (p.Gln3978His) rs1012733827
NM_152564.5(VPS13B):c.1327T>G (p.Phe443Val) rs2488760151
NM_152564.5(VPS13B):c.1363A>G (p.Met455Val)
NM_152564.5(VPS13B):c.1367G>A (p.Cys456Tyr)
NM_152564.5(VPS13B):c.1436T>A (p.Phe479Tyr) rs2488762507
NM_152564.5(VPS13B):c.1580T>G (p.Ile527Arg) rs1810086193
NM_152564.5(VPS13B):c.1711_1713del (p.Glu571del) rs777176713
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr) rs1027919525
NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly) rs1294611505
NM_152564.5(VPS13B):c.2033A>G (p.Asn678Ser) rs751669595
NM_152564.5(VPS13B):c.2035A>G (p.Thr679Ala) rs755151137
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg) rs372585253
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.2078T>C (p.Ile693Thr) rs1811378539
NM_152564.5(VPS13B):c.2168A>G (p.Asp723Gly)
NM_152564.5(VPS13B):c.2213T>C (p.Phe738Ser) rs2488877291
NM_152564.5(VPS13B):c.2378T>C (p.Leu793Pro) rs2488954660
NM_152564.5(VPS13B):c.2396A>G (p.Gln799Arg) rs2488954793
NM_152564.5(VPS13B):c.2404A>G (p.Arg802Gly) rs1312204061
NM_152564.5(VPS13B):c.2431A>G (p.Ile811Val) rs370570714
NM_152564.5(VPS13B):c.2519T>G (p.Val840Gly)
NM_152564.5(VPS13B):c.2555C>T (p.Ser852Leu) rs147682334
NM_152564.5(VPS13B):c.2815C>T (p.His939Tyr)
NM_152564.5(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_152564.5(VPS13B):c.2878T>G (p.Leu960Val)
NM_152564.5(VPS13B):c.2889G>T (p.Trp963Cys) rs386834078
NM_152564.5(VPS13B):c.2987A>T (p.Asp996Val) rs1486878522
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His) rs771021187
NM_152564.5(VPS13B):c.3050C>T (p.Ala1017Val)
NM_152564.5(VPS13B):c.3058C>A (p.Pro1020Thr) rs917905889
NM_152564.5(VPS13B):c.3137G>T (p.Cys1046Phe) rs1460416841
NM_152564.5(VPS13B):c.3202A>C (p.Thr1068Pro) rs2490099703
NM_152564.5(VPS13B):c.3211-3T>C rs1817719182
NM_152564.5(VPS13B):c.3249T>A (p.Asp1083Glu) rs1196083061
NM_152564.5(VPS13B):c.3249T>G (p.Asp1083Glu) rs1196083061
NM_152564.5(VPS13B):c.3266G>A (p.Ser1089Asn) rs1588384694
NM_152564.5(VPS13B):c.3272T>C (p.Ile1091Thr)
NM_152564.5(VPS13B):c.329G>T (p.Arg110Leu)
NM_152564.5(VPS13B):c.3307T>C (p.Trp1103Arg) rs747406522
NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_152564.5(VPS13B):c.3511G>T (p.Val1171Leu)
NM_152564.5(VPS13B):c.3538G>A (p.Gly1180Ser) rs995313030
NM_152564.5(VPS13B):c.35G>A (p.Ser12Asn) rs2488083735
NM_152564.5(VPS13B):c.3672G>C (p.Gln1224His)
NM_152564.5(VPS13B):c.3769G>C (p.Ala1257Pro) rs1437011084
NM_152564.5(VPS13B):c.3788C>T (p.Ser1263Phe)
NM_152564.5(VPS13B):c.3829A>G (p.Ser1277Gly) rs2490354989
NM_152564.5(VPS13B):c.3994A>G (p.Lys1332Glu) rs2490448677
NM_152564.5(VPS13B):c.4042+5A>G rs2490448982
NM_152564.5(VPS13B):c.4076G>A (p.Ser1359Asn) rs1821316658
NM_152564.5(VPS13B):c.4111G>C (p.Val1371Leu) rs1220750873
NM_152564.5(VPS13B):c.4142A>T (p.Asp1381Val) rs2490459863
NM_152564.5(VPS13B):c.4294G>A (p.Val1432Ile) rs1821771897
NM_152564.5(VPS13B):c.4348C>G (p.His1450Asp) rs770616277
NM_152564.5(VPS13B):c.4379C>G (p.Ser1460Cys) rs763285164
NM_152564.5(VPS13B):c.4465A>G (p.Ile1489Val) rs753676801
NM_152564.5(VPS13B):c.4519C>A (p.Gln1507Lys) rs1178400279
NM_152564.5(VPS13B):c.4705A>C (p.Asn1569His)
NM_152564.5(VPS13B):c.4947C>A (p.Ser1649Arg) rs985853073
NM_152564.5(VPS13B):c.5179G>A (p.Ala1727Thr)
NM_152564.5(VPS13B):c.5182A>C (p.Asn1728His)
NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val) rs1825837144
NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala) rs1426875703
NM_152564.5(VPS13B):c.5312T>C (p.Ile1771Thr) rs769873252
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe) rs547179338
NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly) rs905918713
NM_152564.5(VPS13B):c.545G>C (p.Gly182Ala) rs2488637500
NM_152564.5(VPS13B):c.5486T>A (p.Met1829Lys) rs774940710
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly) rs1829392467
NM_152564.5(VPS13B):c.5498A>G (p.Lys1833Arg) rs776334193
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val) rs141211386
NM_152564.5(VPS13B):c.5668G>A (p.Val1890Ile)
NM_152564.5(VPS13B):c.5747C>G (p.Pro1916Arg) rs2491208340
NM_152564.5(VPS13B):c.5775G>C (p.Gln1925His) rs1829404696
NM_152564.5(VPS13B):c.584C>T (p.Thr195Ile) rs770738729
NM_152564.5(VPS13B):c.5875C>A (p.Leu1959Ile)
NM_152564.5(VPS13B):c.5885T>C (p.Val1962Ala) rs149408318
NM_152564.5(VPS13B):c.5924T>G (p.Leu1975Arg) rs766541661
NM_152564.5(VPS13B):c.5978T>C (p.Ile1993Thr) rs1426789840
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn) rs1563849907
NM_152564.5(VPS13B):c.5986A>C (p.Lys1996Gln) rs2491290130
NM_152564.5(VPS13B):c.5993G>A (p.Gly1998Asp) rs2491290170
NM_152564.5(VPS13B):c.603G>T (p.Lys201Asn)
NM_152564.5(VPS13B):c.6091A>G (p.Ser2031Gly) rs2491483468
NM_152564.5(VPS13B):c.6118C>G (p.Leu2040Val)
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His) rs747116389
NM_152564.5(VPS13B):c.6386C>T (p.Pro2129Leu)
NM_152564.5(VPS13B):c.6412C>T (p.Leu2138Phe) rs2491484956
NM_152564.5(VPS13B):c.6457A>T (p.Ile2153Leu) rs771918634
NM_152564.5(VPS13B):c.6493G>A (p.Asp2165Asn) rs763541177
NM_152564.5(VPS13B):c.6518A>C (p.Lys2173Thr)
NM_152564.5(VPS13B):c.703A>G (p.Arg235Gly)
NM_152564.5(VPS13B):c.7040A>G (p.Asp2347Gly) rs1563881705
NM_152564.5(VPS13B):c.7051-3dup rs2491773855
NM_152564.5(VPS13B):c.7145A>G (p.Gln2382Arg)
NM_152564.5(VPS13B):c.7145A>T (p.Gln2382Leu) rs780959088
NM_152564.5(VPS13B):c.7193C>T (p.Ser2398Leu) rs2491774644
NM_152564.5(VPS13B):c.7195G>A (p.Asp2399Asn) rs1563907935
NM_152564.5(VPS13B):c.7223G>C (p.Ser2408Thr)
NM_152564.5(VPS13B):c.725A>G (p.Tyr242Cys)
NM_152564.5(VPS13B):c.73G>A (p.Asp25Asn) rs1841449150
NM_152564.5(VPS13B):c.7490A>T (p.Tyr2497Phe) rs2491842051
NM_152564.5(VPS13B):c.7664C>T (p.Ser2555Phe)
NM_152564.5(VPS13B):c.7696A>G (p.Thr2566Ala) rs200302943
NM_152564.5(VPS13B):c.7779+5G>T rs1454252779
NM_152564.5(VPS13B):c.7874A>T (p.Asp2625Val)
NM_152564.5(VPS13B):c.7896T>A (p.Ser2632Arg) rs1563916146
NM_152564.5(VPS13B):c.7902C>A (p.His2634Gln) rs1440015080
NM_152564.5(VPS13B):c.794C>G (p.Ser265Cys) rs2488689247
NM_152564.5(VPS13B):c.7999G>A (p.Val2667Met) rs1250056053
NM_152564.5(VPS13B):c.8050G>T (p.Ala2684Ser) rs1241516602
NM_152564.5(VPS13B):c.8056C>T (p.Leu2686Phe)
NM_152564.5(VPS13B):c.8062A>G (p.Ile2688Val) rs2491976972
NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe) rs984666923
NM_152564.5(VPS13B):c.8318T>C (p.Val2773Ala) rs2492006248
NM_152564.5(VPS13B):c.8383A>G (p.Ile2795Val) rs768899813
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.8491C>A (p.Pro2831Thr) rs1225650820
NM_152564.5(VPS13B):c.8584G>A (p.Glu2862Lys) rs2492010827
NM_152564.5(VPS13B):c.8725G>A (p.Asp2909Asn) rs2492014021
NM_152564.5(VPS13B):c.8778G>C (p.Lys2926Asn)
NM_152564.5(VPS13B):c.8779A>G (p.Lys2927Glu) rs2492014247
NM_152564.5(VPS13B):c.8828G>T (p.Arg2943Leu) rs777528760
NM_152564.5(VPS13B):c.8912A>C (p.Lys2971Thr)
NM_152564.5(VPS13B):c.895G>A (p.Asp299Asn) rs758289182
NM_152564.5(VPS13B):c.908A>G (p.His303Arg) rs1157527106
NM_152564.5(VPS13B):c.9148G>A (p.Glu3050Lys) rs1178024733
NM_152564.5(VPS13B):c.9210G>T (p.Met3070Ile) rs2492027494
NM_152564.5(VPS13B):c.9232A>G (p.Ile3078Val)
NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly) rs1563492523
NM_152564.5(VPS13B):c.9251C>G (p.Thr3084Ser) rs2492027625
NM_152564.5(VPS13B):c.9355A>G (p.Thr3119Ala) rs749275008
NM_152564.5(VPS13B):c.9361A>G (p.Ser3121Gly) rs1290851612
NM_152564.5(VPS13B):c.9388G>C (p.Ala3130Pro) rs2130858010
NM_152564.5(VPS13B):c.9409C>G (p.Pro3137Ala) rs553756124
NM_152564.5(VPS13B):c.9503G>T (p.Gly3168Val) rs1815137954
NM_152564.5(VPS13B):c.9515C>T (p.Ser3172Leu)
NM_152564.5(VPS13B):c.9519G>T (p.Gln3173His) rs747662530
NM_152564.5(VPS13B):c.9521G>T (p.Cys3174Phe) rs2492094704
NM_152564.5(VPS13B):c.9615-3C>T rs2492119368
NM_152564.5(VPS13B):c.9646G>C (p.Gly3216Arg)
NM_152564.5(VPS13B):c.973C>T (p.Pro325Ser) rs1161857930
NM_152564.5(VPS13B):c.9756T>A (p.Phe3252Leu) rs758710347
NM_152564.5(VPS13B):c.9808T>C (p.Tyr3270His) rs2492123571
NM_152564.5(VPS13B):c.9942+4A>G rs772319548
NM_152564.5(VPS13B):c.9959G>T (p.Gly3320Val) rs1563506534
NM_152564.5(VPS13B):c.9973T>G (p.Tyr3325Asp)

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.