ClinVar Miner

List of variants in gene VPS13B studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP
GRCh37/hg19 8q22.2(chr8:100032341-100088337)x1
GRCh37/hg19 8q22.2(chr8:100032844-100528645)x3
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
GRCh37/hg19 8q22.2(chr8:100091912-100198780)x1
GRCh37/hg19 8q22.2(chr8:100111153-100351288)x3
GRCh37/hg19 8q22.2(chr8:100111153-100371704)x3
GRCh37/hg19 8q22.2(chr8:100111153-100544470)x3
GRCh37/hg19 8q22.2(chr8:100120427-100423020)x1
GRCh37/hg19 8q22.2(chr8:100121961-100331982)x1
GRCh37/hg19 8q22.2(chr8:100205147-100252754)x3
GRCh37/hg19 8q22.2(chr8:100242018-100515757)x1
GRCh37/hg19 8q22.2(chr8:100356422-100777020)x1
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
GRCh37/hg19 8q22.2(chr8:99991771-100220890)x1
NM_015243.2(VPS13B):c.1002T>G (p.Tyr334Ter) rs1057519182
NM_015243.2(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_015243.2(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216
NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_015243.2(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_015243.2(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_015243.2(VPS13B):c.1296A>G (p.Thr432=) rs765163542
NM_015243.2(VPS13B):c.1336C>T (p.Gln446Ter) rs1554634138
NM_015243.2(VPS13B):c.1440C>T (p.Phe480=) rs141324814
NM_015243.2(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_015243.2(VPS13B):c.1464G>A (p.Thr488=) rs727504217
NM_015243.2(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354
NM_015243.2(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291
NM_015243.2(VPS13B):c.1529G>A (p.Arg510His) rs771667880
NM_015243.2(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_015243.2(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_015243.2(VPS13B):c.1567A>G (p.Thr523Ala) rs146659631
NM_015243.2(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091
NM_015243.2(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568
NM_015243.2(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_015243.2(VPS13B):c.1754G>A (p.Arg585His) rs773472945
NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_015243.2(VPS13B):c.1770G>A (p.Ala590=) rs760564848
NM_015243.2(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_015243.2(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329
NM_015243.2(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_015243.2(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616
NM_015243.2(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_015243.2(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632
NM_015243.2(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_015243.2(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701
NM_015243.2(VPS13B):c.2124T>C (p.Ala708=) rs201650333
NM_015243.2(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_015243.2(VPS13B):c.2356A>G (p.Ile786Val) rs202052403
NM_015243.2(VPS13B):c.2377C>G (p.Leu793Val) rs141638933
NM_015243.2(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274
NM_015243.2(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141
NM_015243.2(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159
NM_015243.2(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_015243.2(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788
NM_015243.2(VPS13B):c.292-1G>A rs1057520768
NM_015243.2(VPS13B):c.502G>A (p.Val168Ile) rs750201290
NM_015243.2(VPS13B):c.524C>G (p.Ser175Cys) rs398124334
NM_015243.2(VPS13B):c.560G>A (p.Arg187His) rs150941426
NM_015243.2(VPS13B):c.56A>G (p.Lys19Arg) rs200327756
NM_015243.2(VPS13B):c.581-9dup rs60664170
NM_015243.2(VPS13B):c.78A>G (p.Leu26=) rs745980143
NM_015243.2(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_015243.2(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725
NM_015243.2(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_015243.2(VPS13B):c.983A>G (p.His328Arg) rs181625846
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10140G>T (p.Ala3380=) rs61753726
NM_017890.4(VPS13B):c.10274C>T (p.Pro3425Leu) rs368041601
NM_017890.4(VPS13B):c.10310C>T (p.Ala3437Val) rs112045467
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.10388A>G (p.Asn3463Ser) rs146460917
NM_017890.4(VPS13B):c.10454_10455AG[1] (p.Leu3487fs) rs180177371
NM_017890.4(VPS13B):c.10543A>G (p.Ile3515Val) rs398124325
NM_017890.4(VPS13B):c.10553A>G (p.Asp3518Gly) rs587780497
NM_017890.4(VPS13B):c.10593A>T (p.Leu3531Phe) rs759427770
NM_017890.4(VPS13B):c.10596C>T (p.Tyr3532=) rs767239312
NM_017890.4(VPS13B):c.10624A>G (p.Lys3542Glu) rs143187571
NM_017890.4(VPS13B):c.10643A>G (p.Tyr3548Cys) rs398124326
NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) rs150767461
NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter) rs1057520769
NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val) rs145547375
NM_017890.4(VPS13B):c.10828G>A (p.Asp3610Asn) rs1311421082
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11016C>T (p.Ala3672=)
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11153G>C (p.Ser3718Thr) rs398124327
NM_017890.4(VPS13B):c.11162G>A (p.Arg3721Gln) rs757726642
NM_017890.4(VPS13B):c.11199_11200delinsT (p.Asn3734fs) rs1064793747
NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) rs150393340
NM_017890.4(VPS13B):c.11245G>T (p.Glu3749Ter) rs180177372
NM_017890.4(VPS13B):c.11246_11249dup (p.Leu3751fs) rs1057518228
NM_017890.4(VPS13B):c.11255G>A (p.Arg3752Gln) rs913075497
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11334del (p.Thr3780fs) rs1064795251
NM_017890.4(VPS13B):c.11413G>T (p.Val3805Leu) rs138565077
NM_017890.4(VPS13B):c.11453C>G (p.Ser3818Ter) rs794727771
NM_017890.4(VPS13B):c.11468-2A>C rs1554588038
NM_017890.4(VPS13B):c.11513A>G (p.His3838Arg) rs549702100
NM_017890.4(VPS13B):c.11562_11563AT[1] (p.Tyr3855fs) rs180177373
NM_017890.4(VPS13B):c.11571-2A>G rs1554588353
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11695_11698del (p.Ser3901fs) rs386834066
NM_017890.4(VPS13B):c.11731G>A (p.Val3911Ile) rs141793014
NM_017890.4(VPS13B):c.11777_11780del (p.Leu3926fs) rs1161589003
NM_017890.4(VPS13B):c.11785C>G (p.Gln3929Glu) rs545957190
NM_017890.4(VPS13B):c.11820+4C>T rs751045565
NM_017890.4(VPS13B):c.11820+5G>A rs398124328
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.11834G>A (p.Arg3945Gln) rs147907236
NM_017890.4(VPS13B):c.11906_11916delinsG (p.Pro3969fs) rs786204456
NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs) rs180177374
NM_017890.4(VPS13B):c.11927T>C (p.Ile3976Thr) rs73273219
NM_017890.4(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530
NM_017890.4(VPS13B):c.2569G>C (p.Glu857Gln) rs886042520
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2617A>G (p.Met873Val)
NM_017890.4(VPS13B):c.2651-10T>G rs398124330
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2788C>T (p.Gln930Ter) rs372949456
NM_017890.4(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_017890.4(VPS13B):c.2825-4T>A rs201354177
NM_017890.4(VPS13B):c.2847A>G (p.Ile949Met) rs398124331
NM_017890.4(VPS13B):c.2852G>T (p.Gly951Val) rs770406179
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332
NM_017890.4(VPS13B):c.2934+1_2934+2del rs180177358
NM_017890.4(VPS13B):c.3083-1G>A rs1563726973
NM_017890.4(VPS13B):c.3148G>A (p.Glu1050Lys) rs794727363
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) rs34961653
NM_017890.4(VPS13B):c.3255G>A (p.Leu1085=) rs371674854
NM_017890.4(VPS13B):c.3346_3347CT[1] (p.Cys1117fs) rs180177327
NM_017890.4(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.3559G>A (p.Val1187Ile)
NM_017890.4(VPS13B):c.3595A>G (p.Thr1199Ala) rs1563746444
NM_017890.4(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201
NM_017890.4(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421
NM_017890.4(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021
NM_017890.4(VPS13B):c.3662C>A (p.Pro1221His) rs757707584
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.3690T>C (p.Thr1230=) rs751715193
NM_017890.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_017890.4(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.4200C>T (p.Val1400=) rs398124333
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.4300-6G>A rs199755508
NM_017890.4(VPS13B):c.4337A>G (p.His1446Arg) rs371961155
NM_017890.4(VPS13B):c.4645G>T (p.Val1549Phe) rs200774003
NM_017890.4(VPS13B):c.4697C>T (p.Pro1566Leu) rs552843068
NM_017890.4(VPS13B):c.4748T>A (p.Ile1583Asn) rs138417551
NM_017890.4(VPS13B):c.4832A>G (p.Asn1611Ser) rs147342579
NM_017890.4(VPS13B):c.4878_4880dup (p.Tyr1627Ter) rs180177359
NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter) rs180177360
NM_017890.4(VPS13B):c.4955C>G (p.Ser1652Ter) rs180177361
NM_017890.4(VPS13B):c.5025-9A>G rs373474658
NM_017890.4(VPS13B):c.5030G>A (p.Arg1677Gln) rs138148013
NM_017890.4(VPS13B):c.5080dup (p.Ser1694fs) rs886042930
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5162T>C (p.Val1721Ala) rs878852995
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5360G>A (p.Arg1787His) rs587780498
NM_017890.4(VPS13B):c.5424_5425AG[3] (p.Gln1810fs) rs180177363
NM_017890.4(VPS13B):c.5435G>T (p.Ser1812Ile) rs1085307957
NM_017890.4(VPS13B):c.5461dup (p.Arg1821fs) rs180177364
NM_017890.4(VPS13B):c.5471G>A (p.Arg1824His) rs755227174
NM_017890.4(VPS13B):c.5513_5527del (p.Asp1838_Thr1842del) rs1057519183
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5753_5754del (p.Leu1918fs) rs886041586
NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) rs150272676
NM_017890.4(VPS13B):c.5836A>G (p.Thr1946Ala) rs112749780
NM_017890.4(VPS13B):c.5878T>G (p.Ser1960Ala) rs138930771
NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter) rs180177365
NM_017890.4(VPS13B):c.5965T>C (p.Ser1989Pro) rs148704031
NM_017890.4(VPS13B):c.5984-2A>T rs1554892004
NM_017890.4(VPS13B):c.5996_5997CT[1] (p.Leu2000fs) rs886041323
NM_017890.4(VPS13B):c.6002del (p.Pro2001fs) rs755125969
NM_017890.4(VPS13B):c.6030G>A (p.Trp2010Ter) rs1554892040
NM_017890.4(VPS13B):c.6096G>T (p.Gln2032His) rs398124335
NM_017890.4(VPS13B):c.6200T>A (p.Leu2067Ter) rs371364257
NM_017890.4(VPS13B):c.6341G>T (p.Gly2114Val) rs398124336
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.6384_6385del (p.Ser2129fs) rs1064796925
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6562A>G (p.Ile2188Val) rs794727599
NM_017890.4(VPS13B):c.6706A>C (p.Ile2236Leu) rs369932118
NM_017890.4(VPS13B):c.6729A>G (p.Leu2243=) rs1046756662
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) rs146960401
NM_017890.4(VPS13B):c.6932A>G (p.Gln2311Arg) rs200713917
NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) rs61754113
NM_017890.4(VPS13B):c.7123C>T (p.Gln2375Ter) rs767858119
NM_017890.4(VPS13B):c.7153G>T (p.Glu2385Ter) rs180177368
NM_017890.4(VPS13B):c.7162A>C (p.Lys2388Gln) rs533701597
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7292del (p.Asn2431fs) rs886041184
NM_017890.4(VPS13B):c.7322_7322+1delinsATGGAGC rs180177367
NM_017890.4(VPS13B):c.7323C>T (p.Ser2441=) rs886043216
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.7522C>T (p.Gln2508Ter) rs980463746
NM_017890.4(VPS13B):c.7623_7626TGTC[1] (p.Cys2543fs) rs886041587
NM_017890.4(VPS13B):c.7654G>A (p.Ala2552Thr)
NM_017890.4(VPS13B):c.7722C>T (p.Phe2574=) rs112634620
NM_017890.4(VPS13B):c.7735G>C (p.Val2579Leu) rs202226215
NM_017890.4(VPS13B):c.7744G>A (p.Asp2582Asn)
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) rs145208175
NM_017890.4(VPS13B):c.7855-19C>T rs199981958
NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) rs144350008
NM_017890.4(VPS13B):c.7967C>T (p.Ala2656Val) rs768459862
NM_017890.4(VPS13B):c.7997G>A (p.Arg2666His) rs398124338
NM_017890.4(VPS13B):c.8014C>T (p.Gln2672Ter) rs753282248
NM_017890.4(VPS13B):c.8025C>T (p.His2675=) rs61754503
NM_017890.4(VPS13B):c.8173-1G>C rs1554565484
NM_017890.4(VPS13B):c.8234T>C (p.Val2745Ala) rs369898130
NM_017890.4(VPS13B):c.8248A>G (p.Ile2750Val) rs201127443
NM_017890.4(VPS13B):c.8254C>T (p.Gln2752Ter) rs886041678
NM_017890.4(VPS13B):c.8260G>A (p.Gly2754Arg) rs794727679
NM_017890.4(VPS13B):c.8276G>A (p.Arg2759Gln) rs370701337
NM_017890.4(VPS13B):c.8292C>A (p.Cys2764Ter) rs180177369
NM_017890.4(VPS13B):c.8318C>T (p.Ser2773Leu) rs180177370
NM_017890.4(VPS13B):c.8319G>A (p.Ser2773=)
NM_017890.4(VPS13B):c.8327T>C (p.Leu2776Pro) rs1563488848
NM_017890.4(VPS13B):c.8362del (p.Ala2788fs) rs1554565645
NM_017890.4(VPS13B):c.8504A>C (p.Gln2835Pro) rs769551176
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.8755A>G (p.Ile2919Val)
NM_017890.4(VPS13B):c.8826G>A (p.Ser2942=) rs775883776
NM_017890.4(VPS13B):c.8851_8853AAG[1] (p.Lys2952del) rs549810522
NM_017890.4(VPS13B):c.8868-12T>A rs189516672
NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter) rs727504219
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.9206A>C (p.Glu3069Ala) rs376652526
NM_017890.4(VPS13B):c.9258+6A>G rs369495448
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9405+1G>C rs756013171
NM_017890.4(VPS13B):c.9405+2T>C rs1554570388
NM_017890.4(VPS13B):c.9605T>C (p.Leu3202Pro) rs199559979
NM_017890.4(VPS13B):c.9626A>G (p.Glu3209Gly) rs772361332
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.9709C>T (p.Gln3237Ter) rs1563499381
NM_017890.4(VPS13B):c.9720C>T (p.Leu3240=) rs373968888
NM_017890.4(VPS13B):c.9721G>A (p.Gly3241Arg) rs758775003
NM_017890.4(VPS13B):c.9793dup (p.Met3265fs) rs886041185
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4(VPS13B):c.9978G>A (p.Glu3326=) rs150573530
NM_152564.4(VPS13B):c.11885C>A (p.Pro3962His) rs531619892
NM_152564.4(VPS13B):c.6887T>C (p.Val2296Ala) rs727504218

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