ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_017890.4(VPS13B):c.*1212_*1215dupTCTC rs1258731393
NM_017890.4(VPS13B):c.*250_*252dupACA rs71274940
NM_017890.4(VPS13B):c.*33_*36dupGATT rs373852425
NM_017890.4(VPS13B):c.*378_*381delATTT rs374440758
NM_017890.4(VPS13B):c.*597_*598dupTT rs397791669
NM_017890.4(VPS13B):c.*702dupT rs200421894
NM_017890.4(VPS13B):c.10017+9G>T rs942110632
NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) rs115369860
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.10896G>A (p.Val3632=) rs1554581864
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.11119+13G>A rs116819080
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) rs138667007
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) rs7844645
NM_017890.4(VPS13B):c.1206+19_1206+34del16 rs750619814
NM_017890.4(VPS13B):c.1206+23T>A rs745316537
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_017890.4(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.1776T>C (p.His592=) rs756818683
NM_017890.4(VPS13B):c.2124T>C (p.Ala708=) rs201650333
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_017890.4(VPS13B):c.2472C>T (p.Ser824=) rs766373133
NM_017890.4(VPS13B):c.2515+16596_2515+16608del13 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.2655T>C (p.Asp885=) rs769466569
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.2934+14A>T rs187151724
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3297A>C (p.Thr1099=) rs200982547
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.366G>A (p.Pro122=) rs373340298
NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=) rs16897391
NM_017890.4(VPS13B):c.3827C>T (p.Thr1276Ile) rs567003932
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) rs34941871
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
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.4215T>G (p.Thr1405=) rs1455372294
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
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.4803T>C (p.Leu1601=) rs1158360713
NM_017890.4(VPS13B):c.4821-14C>T rs112780006
NM_017890.4(VPS13B):c.4821-7T>C rs201136777
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.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.6530-4dupT rs398124337
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
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.7722C>T (p.Phe2574=) rs112634620
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.7855-19C>T rs199981958
NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) rs144350008
NM_017890.4(VPS13B):c.8016+20_8016+42del23 rs769286340
NM_017890.4(VPS13B):c.8025C>T (p.His2675=) rs61754503
NM_017890.4(VPS13B):c.8436+12C>T rs886062546
NM_017890.4(VPS13B):c.8520+50delT rs761647040
NM_017890.4(VPS13B):c.8802C>T (p.Asp2934=) rs201517365
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) rs113671330
NM_017890.4(VPS13B):c.9459G>A (p.Gln3153=) rs267601673
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.975T>G (p.Pro325=) rs1554625544
NM_152564.4(VPS13B):c.*1932T>G rs10106711
NM_152564.4(VPS13B):c.*336_*353dup rs554420171

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