ClinVar Miner

List of variants in gene VPS13B reported as likely benign for Cohen syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP
NM_015243.2(VPS13B):c.1206+19_1206+34del rs750619814
NM_017890.4(VPS13B):c.*1207G>C rs182082022
NM_017890.4(VPS13B):c.*250_*252dup rs71274940
NM_017890.4(VPS13B):c.*305G>A rs149912942
NM_017890.4(VPS13B):c.*336_*353dup rs554420171
NM_017890.4(VPS13B):c.*33_*36dup rs373852425
NM_017890.4(VPS13B):c.*597_*598dup rs397791669
NM_017890.4(VPS13B):c.*702dup rs200421894
NM_017890.4(VPS13B):c.10017+9G>T rs942110632
NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile) rs111353525
NM_017890.4(VPS13B):c.10137-7C>T rs1588785807
NM_017890.4(VPS13B):c.10248G>A (p.Leu3416=) rs1588786090
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.10333G>A (p.Val3445Met) rs191174682
NM_017890.4(VPS13B):c.10385C>T (p.Ser3462Phe) rs200268089
NM_017890.4(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_017890.4(VPS13B):c.10596C>T (p.Tyr3532=) rs767239312
NM_017890.4(VPS13B):c.10602A>G (p.Glu3534=) rs113120767
NM_017890.4(VPS13B):c.10623C>A (p.Ile3541=) rs780558517
NM_017890.4(VPS13B):c.10701G>A (p.Val3567=) rs139227281
NM_017890.4(VPS13B):c.10725C>T (p.His3575=) rs372367817
NM_017890.4(VPS13B):c.1077T>C (p.Tyr359=) rs541332942
NM_017890.4(VPS13B):c.10788C>T (p.Leu3596=) rs756468150
NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val) rs145547375
NM_017890.4(VPS13B):c.10884G>A (p.Ala3628=) rs768029540
NM_017890.4(VPS13B):c.10899C>T (p.His3633=) rs114818249
NM_017890.4(VPS13B):c.10943-7G>A rs376141593
NM_017890.4(VPS13B):c.10965T>C (p.Asp3655=) rs773474909
NM_017890.4(VPS13B):c.10971T>C (p.Leu3657=) rs774248863
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11001C>A (p.Ile3667=) rs753373848
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11034G>A (p.Pro3678=) rs771022240
NM_017890.4(VPS13B):c.11055C>T (p.Gly3685=) rs142939294
NM_017890.4(VPS13B):c.11067C>T (p.Phe3689=) rs575051014
NM_017890.4(VPS13B):c.11097G>A (p.Ser3699=) rs375676564
NM_017890.4(VPS13B):c.11115C>T (p.Ser3705=) rs199748413
NM_017890.4(VPS13B):c.11120-4T>C rs1588797519
NM_017890.4(VPS13B):c.11127C>G (p.Leu3709=) rs373428916
NM_017890.4(VPS13B):c.11133C>T (p.Ser3711=) rs1242117872
NM_017890.4(VPS13B):c.11145C>T (p.Leu3715=) rs185477101
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) rs150393340
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11570+6A>G rs116546060
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11691G>A (p.Val3897=) rs760377055
NM_017890.4(VPS13B):c.11694G>C (p.Val3898=) rs113454700
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.11862C>T (p.Asn3954=) rs147710096
NM_017890.4(VPS13B):c.11927T>C (p.Ile3976Thr) rs73273219
NM_017890.4(VPS13B):c.11959C>G (p.Pro3987Ala) rs201483764
NM_017890.4(VPS13B):c.11972A>T (p.Lys3991Ile) rs117934093
NM_017890.4(VPS13B):c.1206+23T>A rs745316537
NM_017890.4(VPS13B):c.1209C>T (p.Leu403=) rs756539595
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.1293T>A (p.Thr431=) rs77759532
NM_017890.4(VPS13B):c.1303-9G>A rs370251445
NM_017890.4(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_017890.4(VPS13B):c.1530C>T (p.Arg510=) rs149919865
NM_017890.4(VPS13B):c.1551A>C (p.Ser517=) rs200635121
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568
NM_017890.4(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_017890.4(VPS13B):c.1770G>A (p.Ala590=) rs760564848
NM_017890.4(VPS13B):c.1825T>C (p.Tyr609His) rs138171489
NM_017890.4(VPS13B):c.1843+10T>C rs371154826
NM_017890.4(VPS13B):c.1844-8_1844-4del rs745701200
NM_017890.4(VPS13B):c.2124T>C (p.Ala708=) rs201650333
NM_017890.4(VPS13B):c.2244T>C (p.Asp748=) rs146450992
NM_017890.4(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_017890.4(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274
NM_017890.4(VPS13B):c.2472C>T (p.Ser824=) rs766373133
NM_017890.4(VPS13B):c.2515+16596_2515+16608del rs1554674064
NM_017890.4(VPS13B):c.2515+16609T>G rs1554674081
NM_017890.4(VPS13B):c.2515+37177T>C rs207469599
NM_017890.4(VPS13B):c.2535C>T (p.Pro845=) rs1241992024
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2651-10T>G rs398124330
NM_017890.4(VPS13B):c.2651-8C>A rs201628860
NM_017890.4(VPS13B):c.2655T>C (p.Asp885=) rs769466569
NM_017890.4(VPS13B):c.2685T>A (p.Leu895=) rs762130581
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.2748A>G (p.Pro916=) rs144830924
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2886G>A (p.Thr962=) rs753837683
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3082+9C>G rs529476662
NM_017890.4(VPS13B):c.3083-8G>A rs201973611
NM_017890.4(VPS13B):c.3083-9C>T rs376659281
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=) rs140090983
NM_017890.4(VPS13B):c.3297A>C (p.Thr1099=) rs200982547
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_017890.4(VPS13B):c.345C>T (p.Ser115=) rs372489158
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.358A>G (p.Ile120Val) rs201147123
NM_017890.4(VPS13B):c.3621C>T (p.Leu1207=) rs373889030
NM_017890.4(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021
NM_017890.4(VPS13B):c.365C>T (p.Pro122Leu) rs201723380
NM_017890.4(VPS13B):c.366G>A (p.Pro122=) rs373340298
NM_017890.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.3827C>T (p.Thr1276Ile) rs567003932
NM_017890.4(VPS13B):c.3831C>T (p.Ser1277=) rs1183777904
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.3873A>G (p.Gly1291=) rs772263007
NM_017890.4(VPS13B):c.3948A>G (p.Gly1316=) rs975356010
NM_017890.4(VPS13B):c.4158-561A>G rs1173901763
NM_017890.4(VPS13B):c.4158-633G>A rs1554824647
NM_017890.4(VPS13B):c.4158-649A>C rs1554824637
NM_017890.4(VPS13B):c.4194A>T (p.Gly1398=) rs1554824934
NM_017890.4(VPS13B):c.4197T>C (p.Gly1399=) rs149796549
NM_017890.4(VPS13B):c.420G>T (p.Val140=) rs1379154568
NM_017890.4(VPS13B):c.4215T>G (p.Thr1405=) rs1455372294
NM_017890.4(VPS13B):c.4248A>G (p.Arg1416=) rs1554825004
NM_017890.4(VPS13B):c.4299+17A>T rs1554825046
NM_017890.4(VPS13B):c.4300-6G>A rs199755508
NM_017890.4(VPS13B):c.4315C>T (p.Leu1439=) rs754939057
NM_017890.4(VPS13B):c.4821-14C>T rs112780006
NM_017890.4(VPS13B):c.4821-7T>C rs201136777
NM_017890.4(VPS13B):c.4936C>T (p.Pro1646Ser) rs563705133
NM_017890.4(VPS13B):c.4965G>A (p.Val1655=) rs144069822
NM_017890.4(VPS13B):c.4983G>A (p.Arg1661=) rs765924507
NM_017890.4(VPS13B):c.5025-9A>G rs373474658
NM_017890.4(VPS13B):c.5061C>T (p.Thr1687=) rs148773425
NM_017890.4(VPS13B):c.5064C>A (p.Pro1688=) rs142380266
NM_017890.4(VPS13B):c.510C>T (p.Ser170=) rs749836132
NM_017890.4(VPS13B):c.5295+8T>C rs78899648
NM_017890.4(VPS13B):c.5514C>T (p.Asp1838=) rs1588579468
NM_017890.4(VPS13B):c.5544A>G (p.Leu1848=) rs774190999
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
NM_017890.4(VPS13B):c.5577G>A (p.Ser1859=) rs143115716
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) rs150272676
NM_017890.4(VPS13B):c.5871T>C (p.Phe1957=) rs765209957
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.6063A>G (p.Lys2021=) rs767548464
NM_017890.4(VPS13B):c.6507C>A (p.Val2169=) rs1399379580
NM_017890.4(VPS13B):c.6530-4dup rs398124337
NM_017890.4(VPS13B):c.6639T>C (p.Asn2213=) rs746691768
NM_017890.4(VPS13B):c.6720A>C (p.Gly2240=) rs147817990
NM_017890.4(VPS13B):c.672C>T (p.Tyr224=) rs760171272
NM_017890.4(VPS13B):c.6954G>A (p.Leu2318=) rs753494412
NM_017890.4(VPS13B):c.711T>C (p.Arg237=) rs140808736
NM_017890.4(VPS13B):c.7122A>G (p.Leu2374=) rs201133836
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.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.7509A>G (p.Ala2503=) rs373550277
NM_017890.4(VPS13B):c.7722C>T (p.Phe2574=) rs112634620
NM_017890.4(VPS13B):c.7743C>T (p.Ser2581=) rs370903187
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.7968G>A (p.Ala2656=) rs145460276
NM_017890.4(VPS13B):c.8016+20_8016+42del rs769286340
NM_017890.4(VPS13B):c.8025C>T (p.His2675=) rs61754503
NM_017890.4(VPS13B):c.8040T>C (p.Gly2680=) rs758430817
NM_017890.4(VPS13B):c.8085C>T (p.Ala2695=) rs376062743
NM_017890.4(VPS13B):c.8193G>A (p.Gln2731=) rs752661758
NM_017890.4(VPS13B):c.8319G>A (p.Ser2773=) rs182347753
NM_017890.4(VPS13B):c.8436+12C>T rs886062546
NM_017890.4(VPS13B):c.8520+50del rs761647040
NM_017890.4(VPS13B):c.8523T>C (p.Ile2841=) rs763701016
NM_017890.4(VPS13B):c.8778A>G (p.Gly2926=) rs1588744960
NM_017890.4(VPS13B):c.8802C>T (p.Asp2934=) rs201517365
NM_017890.4(VPS13B):c.8826G>A (p.Ser2942=) rs775883776
NM_017890.4(VPS13B):c.885C>T (p.Gly295=) rs143112539
NM_017890.4(VPS13B):c.8868-6G>T rs773442324
NM_017890.4(VPS13B):c.8868-6del rs756641209
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9406-2_9406-1del rs764288792
NM_017890.4(VPS13B):c.9412_9413del (p.Arg3138fs) rs754443525
NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) rs745668942
NM_017890.4(VPS13B):c.9523C>T (p.Leu3175=) rs1383239374
NM_017890.4(VPS13B):c.9648A>G (p.Ala3216=) rs189680814
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.9678A>G (p.Gly3226=) rs564362618
NM_017890.4(VPS13B):c.9684T>C (p.Cys3228=) rs533207610
NM_017890.4(VPS13B):c.9720C>T (p.Leu3240=) rs373968888
NM_017890.4(VPS13B):c.975T>G (p.Pro325=) rs1554625544
NM_017890.4(VPS13B):c.9858C>T (p.Ser3286=) rs147242148
NM_017890.4(VPS13B):c.9906G>A (p.Pro3302=) rs775601813
NM_017890.4(VPS13B):c.9951T>G (p.Val3317=) rs143728471
NM_017890.4(VPS13B):c.9978G>A (p.Glu3326=) rs150573530
NM_017890.5(VPS13B):c.*924A>C
NM_017890.5(VPS13B):c.2651-15A>C
NM_017890.5(VPS13B):c.4821-15T>C
NM_152564.4(VPS13B):c.*1212_*1213TC[4] rs1258731393
NM_152564.4(VPS13B):c.*1932T>G rs10106711
NM_152564.4(VPS13B):c.*374_*377ATTT[1] rs374440758
NM_152564.4(VPS13B):c.9384G>A (p.Gln3128=) rs267601673

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.