ClinVar Miner

List of variants in gene VPS13B reported as pathogenic for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 600
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter) rs1361356353 0.00003
NM_152564.5(VPS13B):c.1079del (p.Asp360fs) rs767518464 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter) rs1451352816 0.00001
NM_152564.5(VPS13B):c.11216-1G>C rs1057517441 0.00001
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs) rs1485428182 0.00001
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter) rs774376104 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter) rs567092790 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4745+1G>A rs1469729130 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs) rs1829394659 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783 0.00001
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter) rs1293372026 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.7429+1G>A rs386834106 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter) rs766484806 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
GRCh37/hg19 8q22.2(chr8:100067471-100156392)
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
GRCh37/hg19 8q22.2(chr8:100168626-100298366)
GRCh37/hg19 8q22.2(chr8:100232749-100493790)
GRCh37/hg19 8q22.2(chr8:100274176-100477297)
GRCh37/hg19 8q22.2(chr8:100479441-100545102)
GRCh37/hg19 8q22.2(chr8:100587642-100712137)
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NC_000008.10:g.(?_100025484)_(100026173_?)del
NC_000008.10:g.(?_100026017)_(100026183_?)del
NC_000008.10:g.(?_100026017)_(100887894_?)del
NC_000008.10:g.(?_100050631)_(100115368_?)del
NC_000008.10:g.(?_100108530)_(100128112_?)del
NC_000008.10:g.(?_100108530)_(100155403_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)del
NC_000008.10:g.(?_100108530)_(100205295_?)del
NC_000008.10:g.(?_100108530)_(100287492_?)del
NC_000008.10:g.(?_100108530)_(100494040_?)del
NC_000008.10:g.(?_100123306)_(100182411_?)del
NC_000008.10:g.(?_100123306)_(100403952_?)del
NC_000008.10:g.(?_100123316)_(100123517_?)del
NC_000008.10:g.(?_100133395)_(100134000_?)del
NC_000008.10:g.(?_100146850)_(100221906_?)del
NC_000008.10:g.(?_100146850)_(100287492_?)del
NC_000008.10:g.(?_100146850)_(100533248_?)del
NC_000008.10:g.(?_100147223)_(100155413_?)del
NC_000008.10:g.(?_100155192)_(100287492_?)del
NC_000008.10:g.(?_100160049)_(100160258_?)del
NC_000008.10:g.(?_100160049)_(100168991_?)del
NC_000008.10:g.(?_100182257)_(100221906_?)del
NC_000008.10:g.(?_100182257)_(100479872_?)del
NC_000008.10:g.(?_100205084)_(100454883_?)del
NC_000008.10:g.(?_100205094)_(100287492_?)del
NC_000008.10:g.(?_100205094)_(100733285_?)del
NC_000008.10:g.(?_100286406)_(100494050_?)del
NC_000008.10:g.(?_100286406)_(100520159_?)del
NC_000008.10:g.(?_100286406)_(100523760_?)del
NC_000008.10:g.(?_100286406)_(100874194_?)del
NC_000008.10:g.(?_100286416)_(100454873_?)del
NC_000008.10:g.(?_100286416)_(100568891_?)del
NC_000008.10:g.(?_100286416)_(100673729_?)del
NC_000008.10:g.(?_100286416)_(100821768_?)del
NC_000008.10:g.(?_100396416)_(100396565_?)del
NC_000008.10:g.(?_100396416)_(100443912_?)del
NC_000008.10:g.(?_100396426)_(100403942_?)del
NC_000008.10:g.(?_100396426)_(100454873_?)del
NC_000008.10:g.(?_100396426)_(100523750_?)del
NC_000008.10:g.(?_100396426)_(100589871_?)del
NC_000008.10:g.(?_100403765)_(100403952_?)del
NC_000008.10:g.(?_100443745)_(100443912_?)del
NC_000008.10:g.(?_100443745)_(100589881_?)del
NC_000008.10:g.(?_100443755)_(100568891_?)del
NC_000008.10:g.(?_100454619)_(100533248_?)del
NC_000008.10:g.(?_100454619)_(100673729_?)del
NC_000008.10:g.(?_100479622)_(100533258_?)del
NC_000008.10:g.(?_100479622)_(100589881_?)del
NC_000008.10:g.(?_100479632)_(100494040_?)del
NC_000008.10:g.(?_100493807)_(100533258_?)del
NC_000008.10:g.(?_100493807)_(100729621_?)del
NC_000008.10:g.(?_100493817)_(100588022_?)del
NC_000008.10:g.(?_100513905)_(100514096_?)del
NC_000008.10:g.(?_100533107)_(100588032_?)del
NC_000008.10:g.(?_100533107)_(100733295_?)del
NC_000008.10:g.(?_100533117)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100654736_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)del
NC_000008.10:g.(?_100587866)_(100589881_?)dup
NC_000008.10:g.(?_100654019)_(100673739_?)del
NC_000008.10:g.(?_100654029)_(100654736_?)del
NC_000008.10:g.(?_100654029)_(100673729_?)del
NC_000008.10:g.(?_100654029)_(100712170_?)del
NC_000008.10:g.(?_100654029)_(100733285_?)del
NC_000008.10:g.(?_100711733)_(100796724_?)del
NC_000008.10:g.(?_100778992)_(100779208_?)del
NC_000008.10:g.(?_100830669)_(100833720_?)del
NC_000008.10:g.(?_100860984)_(100866504_?)del
NC_000008.10:g.(?_100883666)_(100883935_?)del
NC_000008.10:g.100246250_100460500del
NC_000008.11:g.(?_99013769)_(99209688_?)del
NC_000008.11:g.(?_99096292)_(99193077_?)del
NC_000008.11:g.(?_99096302)_(99136762_?)del
NC_000008.11:g.(?_99096302)_(99556663_?)del
NC_000008.11:g.(?_99102953)_(99170163_?)del
NC_000008.11:g.(?_99111088)_(99170173_?)del
NC_000008.11:g.(?_99115680)_(99193077_?)del
NC_000008.11:g.(?_99121157)_(99193077_?)del
NC_000008.11:g.(?_99121167)_(99721057_?)del
NC_000008.11:g.(?_99134612)_(99136772_?)del
NC_000008.11:g.(?_99135005)_(99143175_?)del
NC_000008.11:g.(?_99135015)_(99143165_?)del
NC_000008.11:g.(?_99170039)_(99170163_?)del
NC_000008.11:g.(?_99209572)_(99391724_?)del
NC_000008.11:g.(?_99384188)_(99511532_?)del
NC_000008.11:g.(?_99391537)_(99521030_?)del
NC_000008.11:g.(?_99391557)_(99556653_?)del
NC_000008.11:g.(?_99467404)_(99521020_?)del
NC_000008.11:g.(?_99481579)_(99721067_?)del
NC_000008.11:g.(?_99501677)_(99502960_?)del
NC_000008.11:g.(?_99520889)_(99521020_?)del
NC_000008.11:g.(?_99520899)_(99584089_?)del
NC_000008.11:g.(?_99556430)_(99577653_?)del
NC_000008.11:g.(?_99556430)_(99642518_?)del
NC_000008.11:g.(?_99661334)_(99661511_?)del
NC_000008.11:g.(?_99661344)_(99784486_?)del
NG_007098.2:g.(809539_810185)_(813218_815566)del
NG_007098.2:g.(94856_102832)_(161899_184610)del
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter)
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter)
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs)
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs) rs2133626786
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs) rs2130902516
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs)
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter) rs1816395005
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter) rs1014479884
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs)
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs) rs875989882
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs)
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs)
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter)
NM_152564.5(VPS13B):c.10327del (p.Val3443fs) rs1816408985
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter)
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644
NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter) rs2132516120
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter)
NM_152564.5(VPS13B):c.10557del (p.Leu3519fs) rs1816422602
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter)
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter) rs2130918298
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs)
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs)
NM_152564.5(VPS13B):c.10936del (p.Val3646fs) rs2130933596
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs) rs1816713664
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs) rs2130933734
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+2T>C rs587777382
NM_152564.5(VPS13B):c.11047del (p.Thr3683fs) rs2130941591
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs)
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter) rs2130941863
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter)
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter)
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.1122del (p.Met375fs)
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs) rs2130962934
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter)
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs)
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs)
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs)
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs) rs1588810676
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs)
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs)
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter) rs2130972411
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) rs1588810695
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter)
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs) rs2130972502
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs)
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs) rs2130972632
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter)
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs)
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs)
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter)
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs) rs2130975687
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter)
NM_152564.5(VPS13B):c.11655del (p.Val3886fs) rs1212294259
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs) rs2130976122
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs) rs2130976129
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs) rs755827237
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter)
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs) rs1263684271
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs)
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs) rs1371736348
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs)
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs)
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs) rs1817657601
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs)
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs)
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter) rs1809977682
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter)
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter)
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter)
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter)
NM_152564.5(VPS13B):c.1366del (p.Cys456fs) rs2132555225
NM_152564.5(VPS13B):c.1378del (p.Ile460fs) rs1810006084
NM_152564.5(VPS13B):c.1406del (p.Asn469fs)
NM_152564.5(VPS13B):c.1418del (p.Ser473fs)
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter)
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs)
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter) rs2132125704
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter)
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs)
NM_152564.5(VPS13B):c.1527del (p.Arg510fs) rs2132556766
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter)
NM_152564.5(VPS13B):c.1604del (p.Ala535fs) rs1810088202
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs)
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1732del (p.Val578fs) rs2132581182
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs) rs1810518393
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter) rs2132581276
NM_152564.5(VPS13B):c.1762del (p.Ser588fs) rs2132581325
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter)
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter)
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs)
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs)
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs) rs1811379645
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter)
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
NM_152564.5(VPS13B):c.2274del (p.Val759fs)
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs) rs2132663525
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter) rs2132727940
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs) rs1813682416
NM_152564.5(VPS13B):c.2381del (p.Pro794fs) rs2132728101
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs) rs2132728144
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter) rs869312923
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter) rs2132728269
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter)
NM_152564.5(VPS13B):c.2507del (p.Leu836fs)
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs) rs2132728587
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter)
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs) rs1818768251
NM_152564.5(VPS13B):c.2536del (p.Leu846fs) rs1818768394
NM_152564.5(VPS13B):c.2558del (p.Ile853fs)
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter) rs2132994876
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter) rs199868590
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2723del (p.Lys908fs)
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs)
NM_152564.5(VPS13B):c.276del (p.Lys93fs)
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer)
NM_152564.5(VPS13B):c.2778del (p.Phe927fs) rs1818830393
NM_152564.5(VPS13B):c.285dup (p.Ile96fs)
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter) rs775378782
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter) rs2133295344
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter)
NM_152564.5(VPS13B):c.2963dup (p.Met988fs)
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs) rs2133312597
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter) rs2133312718
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs)
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs) rs2133312827
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter) rs2133412405
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs) rs2133412472
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs)
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter)
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs)
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter)
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter)
NM_152564.5(VPS13B):c.3446-23T>G rs2133510569
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter) rs2133510708
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs) rs2133510772
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs)
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs)
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter)
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter)
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs)
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter) rs2133511511
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter)
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs) rs1820043726
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs) rs2133609624
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter) rs2133609831
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs)
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs)
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs) rs1821315647
NM_152564.5(VPS13B):c.412+1G>T rs1057517295
NM_152564.5(VPS13B):c.413-2A>G rs2132453775
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs)
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs)
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs) rs2133637853
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs) rs1057518939
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs) rs1554826615
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter)
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs) rs1588038825
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter) rs1822355402
NM_152564.5(VPS13B):c.4745+1G>C
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter) rs2133764725
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)
NM_152564.5(VPS13B):c.483del (p.Lys161fs) rs2132453991
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs) rs1588491595
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter)
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter)
NM_152564.5(VPS13B):c.4949+2T>G
NM_152564.5(VPS13B):c.4959del (p.His1654fs) rs1166814614
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs) rs2133808512
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs)
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs) rs1563806122
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5163dup (p.His1722fs)
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer) rs1434257397
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs)
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter)
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs) rs1588579347
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs) rs1829386577
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs)
NM_152564.5(VPS13B):c.541dup (p.Val181fs)
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs)
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter) rs1227284058
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter)
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter)
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs) rs1176397159
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs) rs386834095
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs)
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs)
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs)
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs)
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter)
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer)
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter)
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs)
NM_152564.5(VPS13B):c.572del (p.Asp191fs) rs1588038976
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs) rs2133932364
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs) rs2133932487
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs) rs2129763497
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs) rs2129763561
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter)
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter) rs1554892040
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter)
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter)
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs)
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs) rs2130179621
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs) rs2130179734
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs) rs1588635717
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs)
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs) rs2130180236
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs)
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter)
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs)
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs) rs1554911731
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg) rs2130180694
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter) rs2130181003
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs)
NM_152564.5(VPS13B):c.6330del (p.Val2111fs)
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs)
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter) rs2130181483
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs)
NM_152564.5(VPS13B):c.6447del (p.Val2150fs) rs2130181658
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter)
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg) rs120074149
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs)
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs)
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs) rs1554922054
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs) rs2130317561
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs)
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter) rs2132481787
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6657+2T>C rs1832966881
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer)
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs)
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs) rs1833089251
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs)
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_152564.5(VPS13B):c.6865+1G>T rs202046738
NM_152564.5(VPS13B):c.6882del (p.Val2296fs)
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer)
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs) rs1833108141
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs) rs1554948192
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs)
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs) rs2130621458
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter)
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter)
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs)
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs) rs1811255718
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter) rs980463746
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs)
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter)
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter) rs2130678821
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs)
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter)
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter) rs1811869155
NM_152564.5(VPS13B):c.763-2118G>T
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs) rs771308343
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter)
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs) rs2130679794
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs) rs2130680017
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs) rs1812158350
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.7864del (p.Val2622fs)
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter) rs2130702734
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter) rs2130785617
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter)
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter) rs1813585665
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs)
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter)
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs) rs1813589674
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter)
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter)
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs) rs2130810644
NM_152564.5(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_152564.5(VPS13B):c.817_818del (p.Met273fs) rs2132497770
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer)
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs)
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs)
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter) rs2130810847
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs)
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs) rs1554565645
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter)
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) rs1379711249
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs)
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs)
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs)
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs) rs1588743576
NM_152564.5(VPS13B):c.8430del (p.Val2811fs) rs2130813174
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter) rs2130813187
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs) rs2130813849
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs) rs2130813916
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs) rs2130813918
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer) rs2130813950
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs)
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter) rs1256482530
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter) rs2130814064
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer) rs2132497933
NM_152564.5(VPS13B):c.8710del (p.Val2904fs)
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs)
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter)
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter) rs2130816341
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs) rs2130817575
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter) rs2130817608
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter) rs797046098
NM_152564.5(VPS13B):c.896del (p.Asp299fs) rs2132498049
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter)
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter)
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter)
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>C rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
NM_152564.5(VPS13B):c.9331-2A>G rs74485751
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter) rs1563497733
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter) rs1563497844
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs)
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter) rs2130858310
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs) rs2130858335
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs) rs2130858386
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs)
NM_152564.5(VPS13B):c.95del (p.Gly32fs)
NM_152564.5(VPS13B):c.9615-1G>A rs2130865334
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) rs1563499381
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs)
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs)
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter)
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs)
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter) rs1205613982
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs) rs2130866580
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs) rs2130866708
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter) rs2130866735
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs)
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9943-1G>A
NM_152564.5(VPS13B):c.9943-2A>G rs1816111137
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]

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.