ClinVar Miner

List of variants in gene VPS13B reported as likely pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 451
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
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.7248-1G>A rs763079458 0.00003
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_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 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.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3082+2T>C rs1188811827 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4746-1G>C rs768342041 0.00001
NM_152564.5(VPS13B):c.4949+2T>C rs761273297 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.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.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 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.7780-2A>C rs1378196300 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NC_000008.10:g.(?_100050631)_(100128122_?)dup
NC_000008.10:g.(?_100050631)_(100287502_?)dup
NC_000008.10:g.(?_100050713)_(100057034_?)del
NC_000008.10:g.(?_100108520)_(100205305_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)dup
NC_000008.10:g.(?_100123306)_(100133735_?)dup
NC_000008.10:g.(?_100133385)_(100160258_?)dup
NC_000008.10:g.(?_100157931)_(100160219_?)del
NC_000008.10:g.(?_100162579)_(100168929_?)del
NC_000008.10:g.(?_100205094)_(100205295_?)dup
NC_000008.10:g.(?_100205094)_(100287492_?)dup
NC_000008.10:g.(?_100286406)_(100287502_?)del
NC_000008.10:g.(?_100396426)_(100479872_?)dup
NC_000008.10:g.(?_100403765)_(100403952_?)dup
NC_000008.10:g.(?_100443745)_(100533258_?)dup
NC_000008.10:g.(?_100443755)_(100443902_?)dup
NC_000008.10:g.(?_100479254)_(100479653_?)del
NC_000008.10:g.(?_100515082)_(100516199_?)del
NC_000008.10:g.(?_100515082)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)dup
NC_000008.10:g.(?_100654029)_(100654736_?)dup
NC_000008.10:g.(?_100673562)_(100847986_?)dup
NC_000008.10:g.(?_100711743)_(100712170_?)del
NC_000008.10:g.(?_100778144)_(100779154_?)del
NC_000008.10:g.(?_100781239)_(100789156_?)del
NC_000008.10:g.(?_100790890)_(100836226_?)dup
NC_000008.10:g.(?_100821583)_(100821778_?)del
NC_000008.10:g.(?_100821603)_(100821758_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)dup
NC_000008.11:g.(?_99134631)_(99511512_?)dup
NC_000008.11:g.(?_99192876)_(99209768_?)dup
NC_000008.11:g.(?_99209582)_(99275264_?)del
NM_017890.4(VPS13B):c.10018_10021delGTTG rs1554579522
NM_017890.4(VPS13B):c.6733_6748del16
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4:c.3542_3543ins5
NM_017890.4:c.7128_7129ins5
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10062-2A>G rs1554581156
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) rs1057516437
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) rs1554581430
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) rs1057516971
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.10555_10556del (p.Leu3519fs) rs1554581632
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) rs1554581676
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) rs1057517137
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) rs1554625693
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs) rs386834056
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) rs1057516274
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) rs1554561356
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10868-2A>C rs745404712
NM_152564.5(VPS13B):c.10868-2A>G
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) rs1057517202
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) rs1057517376
NM_152564.5(VPS13B):c.11181_11215+10del
NM_152564.5(VPS13B):c.11216-1G>A rs1057517441
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) rs1554586972
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) rs1554586994
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>A rs747363890
NM_152564.5(VPS13B):c.11393-1G>C
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) rs1057516284
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs) rs386834063
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
NM_152564.5(VPS13B):c.11495+1G>A
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
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.11523del (p.Glu3842fs) rs386834065
NM_152564.5(VPS13B):c.11575del (p.His3859fs) rs1057516651
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) rs1057517438
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) rs1057517385
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) rs1554588477
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) rs1554588489
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_11709delinsAA (p.Thr3902_Val3903delinsLys) rs386834067
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) rs1554590314
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
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.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) rs1554625872
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
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.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs) rs1057517319
NM_152564.5(VPS13B):c.1563+1G>A rs1057516923
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) rs1057517283
NM_152564.5(VPS13B):c.1843+1G>A
NM_152564.5(VPS13B):c.1844-2A>G rs386834073
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) rs1057517338
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) rs2132624625
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_152564.5(VPS13B):c.2209-2A>G
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter)
NM_152564.5(VPS13B):c.2268del (p.Val757fs) rs1057516532
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2333+2T>C rs1554652265
NM_152564.5(VPS13B):c.2334-2A>G rs1554665974
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) rs1554706149
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2650+1G>A rs1554706285
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) rs1554706662
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) rs1057517255
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) rs1554765173
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) rs1563700124
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
NM_152564.5(VPS13B):c.291+1G>A rs1057516857
NM_152564.5(VPS13B):c.291+2T>A
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.292-7A>G rs1554612610
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2934+2T>A
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) rs1554767735
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) rs1057516834
NM_152564.5(VPS13B):c.3082+1G>A
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) rs1554788238
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) rs1057516926
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) rs1057517447
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) rs1554793521
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
NM_152564.5(VPS13B):c.3445+1G>T rs1034855385
NM_152564.5(VPS13B):c.3445+2T>A
NM_152564.5(VPS13B):c.3446-1G>A
NM_152564.5(VPS13B):c.3446-382_3463del rs1588410519
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter) rs386834081
NM_152564.5(VPS13B):c.3666+1G>T rs1554807146
NM_152564.5(VPS13B):c.3666+2T>A rs386834082
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) rs1554814271
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.4042+2T>C rs1554822819
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
NM_152564.5(VPS13B):c.412+1G>A rs1057517295
NM_152564.5(VPS13B):c.412+1G>C rs1057517295
NM_152564.5(VPS13B):c.412+2T>C
NM_152564.5(VPS13B):c.4157+2T>G
NM_152564.5(VPS13B):c.4225-1G>A rs2133637043
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs) rs386834085
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs) rs386834087
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs) rs386834089
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
NM_152564.5(VPS13B):c.4633+1G>A
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4746-2A>T rs1554843814
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) rs1588491546
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) rs1554843942
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.4950-2A>G
NM_152564.5(VPS13B):c.5076+1G>C
NM_152564.5(VPS13B):c.5076+1G>T
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) rs1554853676
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs) rs1829386213
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter) rs1554884838
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) rs1554884932
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs) rs386834097
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_152564.5(VPS13B):c.580+2T>C
NM_152564.5(VPS13B):c.581-1G>A
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-1G>T rs1057516694
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.6047-1G>A rs750092574
NM_152564.5(VPS13B):c.6047-5_6047del rs1057516841
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) rs1554911430
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs) rs386834101
NM_152564.5(VPS13B):c.6454+1G>C rs1235993153
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs) rs386834102
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) rs1057516663
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6658-2A>G rs386834103
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) rs1057516302
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) rs1554924412
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) rs1057516660
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) rs1554952467
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7396del (p.His2466fs) rs1554952554
NM_152564.5(VPS13B):c.7429+2T>C rs1057517393
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val) rs1811867338
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter) rs386834108
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
NM_152564.5(VPS13B):c.762+1G>A
NM_152564.5(VPS13B):c.762+2T>C rs1588048848
NM_152564.5(VPS13B):c.763-1G>T
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7779+1G>C
NM_152564.5(VPS13B):c.7779+1G>T
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs) rs386834109
NM_152564.5(VPS13B):c.7941+1G>A rs1554955952
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) rs1554560668
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
NM_152564.5(VPS13B):c.803del (p.Asp268fs) rs1554622622
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) rs1554565537
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) rs1554565558
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer) rs386834111
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8362-1G>C
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8445+1G>C
NM_152564.5(VPS13B):c.8445+2T>C rs1554566396
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs) rs386834114
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.8621+2T>G rs1057517236
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_152564.5(VPS13B):c.8793-2A>G
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) rs1057516845
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) rs1554622718
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) rs1057516558
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) rs1057516276
NM_152564.5(VPS13B):c.8995-1G>A
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.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9183+1G>A rs2130822351
NM_152564.5(VPS13B):c.9183+2T>G
NM_152564.5(VPS13B):c.9184-1G>A
NM_152564.5(VPS13B):c.9184-2A>G
NM_152564.5(VPS13B):c.9184-2_9184del rs1057516807
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9330+1G>A
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_152564.5(VPS13B):c.937+1G>A
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9614+1G>T rs1057517168
NM_152564.5(VPS13B):c.9615-2A>C rs386834120
NM_152564.5(VPS13B):c.9615-2A>G rs386834120
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs) rs386834121
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs) rs386834122
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) rs2130865566
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
NM_152564.5(VPS13B):c.9742+1G>A
NM_152564.5(VPS13B):c.9742+1G>T rs759374475
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9743-2A>C rs1815345770
NM_152564.5(VPS13B):c.9743-5_9744del
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs) rs768801125
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) rs1057516568
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) rs1057516614
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) rs1554575679
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063

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.