ClinVar Miner

List of variants in gene VPS13B reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 740
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.9331-2A>G rs74485751 0.00005
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00004
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
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_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.10189del (p.Cys3397fs) rs777336157 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.11602G>T (p.Glu3868Ter) rs1817415840 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.142G>T (p.Glu48Ter) rs533575514 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527 0.00001
NM_152564.5(VPS13B):c.2788C>T (p.Gln930Ter) rs372949456 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.4259del (p.Gln1420fs) rs386834084 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.5153_5154insC (p.Gln1719fs) rs1563806122 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.5705C>A (p.Ser1902Ter) rs1829401940 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00001
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter) rs1293372026 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs) rs1833089251 0.00001
NM_152564.5(VPS13B):c.6865+1G>T rs202046738 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7939C>T (p.Gln2647Ter) rs753282248 0.00001
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter) rs766484806 0.00001
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735 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.8440C>T (p.Arg2814Ter) rs386834113 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219 0.00001
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter) rs1814523509 0.00001
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter) rs1243094816 0.00001
GRCh37/hg19 8q22.2(chr8:100067471-100156392)
GRCh37/hg19 8q22.2(chr8:100091912-100198780)x1
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
GRCh37/hg19 8q22.2(chr8:100120427-100423020)x1
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(chr8:100523332-100523740)x1
GRCh37/hg19 8q22.2(chr8:100539842-100759027)x1
GRCh37/hg19 8q22.2(chr8:100587642-100712137)
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
GRCh37/hg19 8q22.2(chr8:99991771-100220890)x1
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NC_000008.10:g.(100568882_100587885)_(100789185_100790909)del
NC_000008.10:g.(100568882_100587885)_(100791260_100796542)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.(?_100050631)_(100155413_?)del
NC_000008.10:g.(?_100050631)_(100205305_?)del
NC_000008.10:g.(?_100108520)_(100108680_?)del
NC_000008.10:g.(?_100108520)_(100115368_?)del
NC_000008.10:g.(?_100108520)_(100155413_?)dup
NC_000008.10:g.(?_100108520)_(100403952_?)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.(?_100115161)_(100123527_?)del
NC_000008.10:g.(?_100115944)_(100711757_?)del
NC_000008.10:g.(?_100123306)_(100168991_?)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.(?_100127908)_(100287502_?)del
NC_000008.10:g.(?_100133385)_(100133693_?)del
NC_000008.10:g.(?_100133395)_(100134000_?)del
NC_000008.10:g.(?_100146840)_(100403952_?)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.(?_100168757)_(100205305_?)del
NC_000008.10:g.(?_100182247)_(100403952_?)del
NC_000008.10:g.(?_100182247)_(100589881_?)del
NC_000008.10:g.(?_100182257)_(100221906_?)del
NC_000008.10:g.(?_100182257)_(100287492_?)del
NC_000008.10:g.(?_100182257)_(100479872_?)del
NC_000008.10:g.(?_100205084)_(100205305_?)del
NC_000008.10:g.(?_100205084)_(100454883_?)del
NC_000008.10:g.(?_100205084)_(100589881_?)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)_(100515198_?)del
NC_000008.10:g.(?_100286406)_(100520159_?)del
NC_000008.10:g.(?_100286406)_(100523760_?)del
NC_000008.10:g.(?_100286406)_(100533258_?)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.(?_100396416)_(100479882_?)del
NC_000008.10:g.(?_100396416)_(100515198_?)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.(?_100454609)_(100589881_?)del
NC_000008.10:g.(?_100454619)_(100533248_?)del
NC_000008.10:g.(?_100454619)_(100673729_?)del
NC_000008.10:g.(?_100479619)_(100533258_?)del
NC_000008.10:g.(?_100479622)_(100479882_?)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.(?_100523312)_(100779218_?)del
NC_000008.10:g.(?_100533107)_(100588032_?)del
NC_000008.10:g.(?_100533107)_(100589881_?)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_?)del
NC_000008.10:g.(?_100587866)_(100589881_?)dup
NC_000008.10:g.(?_100587866)_(100712180_?)del
NC_000008.10:g.(?_100654019)_(100673739_?)del
NC_000008.10:g.(?_100654019)_(100887894_?)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.(?_100711743)_(100733285_?)del
NC_000008.10:g.(?_100778992)_(100779208_?)del
NC_000008.10:g.(?_100788983)_(100791279_?)del
NC_000008.10:g.(?_100830669)_(100833720_?)del
NC_000008.10:g.(?_100860984)_(100866504_?)del
NC_000008.10:g.(?_100880497)_(100887894_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)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_017890.4(VPS13B):c.[3582delT];[6370_6371delAT]
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter) rs1821577573
NM_017890.5(VPS13B):c.4168G>T (p.Glu1390Ter)
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter) rs2490496771
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs) rs1436874013
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) rs778380938
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) rs2492236593
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.10209dup (p.Pro3404fs) rs2492236950
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter) rs2492237494
NM_152564.5(VPS13B):c.10281del (p.Gln3428fs)
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter) rs2492237648
NM_152564.5(VPS13B):c.10327del (p.Val3443fs) rs1816408985
NM_152564.5(VPS13B):c.10334del (p.Val3445fs) rs2492237807
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter) rs2488710351
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10401del (p.Glu3468fs)
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.10498G>T (p.Glu3500Ter)
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter) rs2492239255
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) rs758842658
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) rs1672138655
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter) rs2492239989
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) rs2492241039
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs) rs2492277833
NM_152564.5(VPS13B):c.10936del (p.Val3646fs) rs2130933596
NM_152564.5(VPS13B):c.10964_10979del (p.Glu3655fs)
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) rs2492278870
NM_152564.5(VPS13B):c.11029_11030del (p.Lys3677fs) rs2492279007
NM_152564.5(VPS13B):c.11044+1G>A rs2492279185
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) rs751118731
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter) rs2130941863
NM_152564.5(VPS13B):c.11124_11125delinsT (p.Asn3709fs) rs1064793747
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter) rs150393340
NM_152564.5(VPS13B):c.11170G>T (p.Glu3724Ter) rs180177372
NM_152564.5(VPS13B):c.11171_11174dup (p.Leu3726fs) rs1057518228
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter) rs1432822705
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.1122del (p.Met375fs) rs2488710723
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) rs797046093
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs) rs2492346869
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs) rs2492347008
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs) rs2492347312
NM_152564.5(VPS13B):c.11378C>G (p.Ser3793Ter) rs794727771
NM_152564.5(VPS13B):c.11393-2A>C rs1554588038
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs) rs1588810676
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs) rs2492368169
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs) rs2492368181
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.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter) rs1269999933
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs) rs2130972502
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs) rs2492368462
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs) rs2130972632
NM_152564.5(VPS13B):c.11489_11490del (p.Tyr3830fs) rs180177373
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) rs2492375934
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs) rs2492375984
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) rs2492376150
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) rs147315245
NM_152564.5(VPS13B):c.11641C>T (p.Gln3881Ter) rs2492377397
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.11768_11771dup (p.Glu3925fs)
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs) rs755827237
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter) rs2492411190
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) rs2492411438
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs) rs1371736348
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs) rs2492411482
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) rs180177374
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) rs1817660485
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) rs1554590486
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs) rs2492412154
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter) rs1809977682
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter) rs942483537
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter) rs2488758091
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter) rs2488758180
NM_152564.5(VPS13B):c.1279G>T (p.Glu427Ter) rs1809981172
NM_152564.5(VPS13B):c.1297del (p.Val433fs)
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter) rs1320106244
NM_152564.5(VPS13B):c.1336C>T (p.Gln446Ter) rs1554634138
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) rs2488760578
NM_152564.5(VPS13B):c.1418del (p.Ser473fs) rs1563560592
NM_152564.5(VPS13B):c.142del (p.Glu48fs)
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs) rs2488762498
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter) rs2132125704
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter) rs751986362
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs) rs2488762701
NM_152564.5(VPS13B):c.1527del (p.Arg510fs) rs2132556766
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter) rs776456971
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1604del (p.Ala535fs) rs1810088202
NM_152564.5(VPS13B):c.1609del (p.Tyr537fs)
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs) rs2488267195
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1666C>T (p.Gln556Ter)
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.1766_1775del (p.Ser589fs)
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter) rs2488267313
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter) rs2488786625
NM_152564.5(VPS13B):c.1829del (p.Ser610fs)
NM_152564.5(VPS13B):c.1950C>A (p.Cys650Ter) rs1810830776
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs) rs769834845
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs) rs2488803969
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
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) rs2488834482
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter) rs2488834482
NM_152564.5(VPS13B):c.2274del (p.Val759fs) rs2488877642
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.2362G>T (p.Glu788Ter) rs1554666009
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) rs1452649119
NM_152564.5(VPS13B):c.2448_2449dup (p.His817fs)
NM_152564.5(VPS13B):c.2507del (p.Leu836fs) rs2488955455
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs) rs2132728587
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter) rs2489222997
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs) rs1818768251
NM_152564.5(VPS13B):c.2536del (p.Leu846fs) rs1818768394
NM_152564.5(VPS13B):c.2557del (p.Ile853fs)
NM_152564.5(VPS13B):c.2558del (p.Ile853fs) rs2489223096
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.259del (p.Glu87fs) rs2488267977
NM_152564.5(VPS13B):c.2640dup (p.Lys881fs)
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2723del (p.Lys908fs) rs2489226644
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2743A>T (p.Lys915Ter)
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs) rs2489226781
NM_152564.5(VPS13B):c.276del (p.Lys93fs) rs1185329868
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer) rs2489226859
NM_152564.5(VPS13B):c.2778del (p.Phe927fs) rs1818830393
NM_152564.5(VPS13B):c.285dup (p.Ile96fs) rs2488268134
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.292-1G>A rs1057520768
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter) rs2489874915
NM_152564.5(VPS13B):c.2963dup (p.Met988fs) rs2489875061
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) rs2489875713
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs) rs2133312827
NM_152564.5(VPS13B):c.3142del (p.Ser1048fs)
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) rs2490099762
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter) rs1370204743
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs) rs2490161693
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs) rs2490162265
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter) rs2490162291
NM_152564.5(VPS13B):c.3344_3354del (p.Val1115fs)
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.3369dup (p.Ile1124fs)
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter) rs2490163240
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter) rs2490163288
NM_152564.5(VPS13B):c.3400dup (p.Leu1134fs)
NM_152564.5(VPS13B):c.3445+1G>A
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) rs2490281130
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs) rs2490281178
NM_152564.5(VPS13B):c.351del (p.Lys117fs) rs2488605060
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter) rs772078846
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter) rs1819174200
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs) rs2490281771
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) rs2490354235
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) rs2490448712
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs) rs2490448759
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
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.4267_4273del (p.Phe1423fs) rs2490520787
NM_152564.5(VPS13B):c.4325C>G (p.Ser1442Ter) rs751646100
NM_152564.5(VPS13B):c.4341_4342insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATGAGCGAAGA (p.Ser1448delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer)
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs) rs2490521936
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.4618C>T (p.Gln1540Ter)
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter) rs2490585434
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 rs1469729130
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.478_481del (p.Leu160fs)
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter) rs2133764725
NM_152564.5(VPS13B):c.4812del (p.Ile1604fs)
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn) rs2490789575
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.4880C>G (p.Ser1627Ter) rs180177361
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter) rs2490790026
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter) rs2490790158
NM_152564.5(VPS13B):c.4949+2T>G rs761273297
NM_152564.5(VPS13B):c.4959del (p.His1654fs) rs1166814614
NM_152564.5(VPS13B):c.4989dup (p.Val1664fs)
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs) rs2133808512
NM_152564.5(VPS13B):c.5005dup (p.Ser1669fs) rs886042930
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs) rs2490909925
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5163dup (p.His1722fs) rs2490910434
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer) rs1434257397
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs) rs2490910717
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs) rs2490910717
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter) rs1279522825
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.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5387_5390dup (p.Arg1799fs) rs1554884733
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs) rs1166294561
NM_152564.5(VPS13B):c.541dup (p.Val181fs) rs2488637479
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs) rs2491206880
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter) rs1227284058
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter) rs2491207258
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter) rs2491207289
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) rs2491207478
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs) rs1829396059
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs) rs2491207553
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs) rs1829396950
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter) rs774677234
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer) rs2491207743
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs) rs2491208206
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.5772dup (p.Gln1925fs) rs754016783
NM_152564.5(VPS13B):c.5793C>G (p.Tyr1931Ter)
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs) rs2133932487
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-2A>T rs1554892004
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) rs2491289899
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter) rs1554892040
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter) rs2491289979
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs) rs1830219226
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter) rs755870553
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter) rs2491483344
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs) rs2491483375
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) rs2491483952
NM_152564.5(VPS13B):c.6198_6202dup (p.Asp2068fs)
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs) rs2130180236
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs) rs2491484177
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter) rs2491484187
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs) rs2491484424
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.6309_6310del (p.Ser2104fs) rs1064796925
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter) rs2130181003
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs) rs2491484630
NM_152564.5(VPS13B):c.6330del (p.Val2111fs) rs2491484645
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs) rs2491484828
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter) rs2130181483
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs) rs2491484950
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) rs1057516494
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) rs2491561874
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs) rs2491562057
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs) rs1554922054
NM_152564.5(VPS13B):c.6610C>T (p.Gln2204Ter)
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs) rs2130317561
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs) rs2491562436
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) rs2491577146
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs) rs2491577168
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter)
NM_152564.5(VPS13B):c.6748C>T (p.Gln2250Ter) rs1014496937
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs) rs2491577873
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_152564.5(VPS13B):c.6882del (p.Val2296fs) rs2491580027
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer) rs2491580504
NM_152564.5(VPS13B):c.7004_7005del (p.Thr2335fs)
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.7078G>T (p.Glu2360Ter) rs180177368
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs) rs1554948192
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs) rs2488672432
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs) rs2130621458
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter) rs2491774358
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter) rs2491774546
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter) rs2491774580
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs) rs2491774628
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.7247_7247+1delinsATGGAGC rs180177367
NM_152564.5(VPS13B):c.726T>G (p.Tyr242Ter)
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7429+1G>A rs386834106
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter) rs980463746
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs) rs2491842094
NM_152564.5(VPS13B):c.7552_7555del (p.Cys2518fs) rs886041587
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter) rs2491842475
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter) rs2130678821
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs) rs2491842486
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter) rs2491842520
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter) rs1811869155
NM_152564.5(VPS13B):c.763-2118G>T rs2488680476
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7657_7672del (p.Met2552_Ala2553insTer)
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs) rs771308343
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter) rs1230710158
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs) rs2130679794
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs) rs2130680017
NM_152564.5(VPS13B):c.7809del (p.Phe2604fs)
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs) rs1812158350
NM_152564.5(VPS13B):c.7840C>T (p.Gln2614Ter)
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.7864del (p.Val2622fs) rs2491873704
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) rs2491976646
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter) rs1813585665
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs) rs2491976835
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter) rs2491976875
NM_152564.5(VPS13B):c.8037C>G (p.Tyr2679Ter) rs777019428
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs) rs1813589674
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter) rs373542052
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter) rs1166109240
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs) rs2130810644
NM_152564.5(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_152564.5(VPS13B):c.8172C>G (p.Tyr2724Ter)
NM_152564.5(VPS13B):c.8179C>T (p.Gln2727Ter) rs886041678
NM_152564.5(VPS13B):c.817_818del (p.Met273fs) rs2132497770
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer) rs2492005762
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs) rs2492005783
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs) rs2492005812
NM_152564.5(VPS13B):c.8217C>A (p.Cys2739Ter) rs180177369
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter) rs2130810847
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs) rs2492006068
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs) rs1554565645
NM_152564.5(VPS13B):c.8309C>A (p.Ser2770Ter)
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter) rs1563488907
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) rs1379711249
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs) rs2492006345
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs) rs2492009076
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs) rs2492009169
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.8512_8516del (p.Lys2838fs) rs1814195897
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs) rs2492010569
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) rs2492013977
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs) rs2492014077
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter) rs139732310
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter) rs2130816341
NM_152564.5(VPS13B):c.8800C>T (p.Gln2934Ter) rs2492015710
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.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) rs151159090
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter) rs1814359696
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.9226C>T (p.Gln3076Ter)
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs) rs2492027730
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
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 rs2492092129
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) rs2492093854
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9515C>G (p.Ser3172Ter)
NM_152564.5(VPS13B):c.9517del (p.Gln3173fs)
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) rs2492095273
NM_152564.5(VPS13B):c.95del (p.Gly32fs) rs2488084191
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) rs1815323043
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs) rs2492120101
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs) rs2492123085
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.9906G>A (p.Trp3302Ter) rs1815354949
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs) rs2492124610
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9943-1G>A rs2492202628
NM_152564.5(VPS13B):c.9943-2A>G rs1816111137
NM_152564.5(VPS13B):c.9967dup (p.Tyr3323fs)
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.