ClinVar Miner

List of variants in gene VPS13B reported as pathogenic for Cohen syndrome

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Gene type:
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Total variants: 73
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HGVS dbSNP
NC_000008.10:g.(?_100108520)_(100205305_?)del
NC_000008.10:g.(?_100127908)_(100205305_?)del
NC_000008.10:g.(?_100146840)_(100149000_?)del
NC_000008.10:g.(?_100221800)_(100403952_?)del
NC_000008.10:g.(?_100396416)_(100523760_?)del
NC_000008.10:g.(?_100403765)_(100533258_?)del
NC_000008.10:g.(?_100568658)_(100589881_?)del
NC_000008.10:g.(?_100568658)_(100654746_?)del
NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_015243.2(VPS13B):c.1418del (p.Ser473fs) rs1563560592
NM_015243.2(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354
NM_015243.2(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_015243.2(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_015243.2(VPS13B):c.572del (p.Asp191fs)
NM_015243.2(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_017890.4(VPS13B):c.10240_10282del (p.Leu3414fs) rs875989882
NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter) rs1057520769
NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter) rs120074154
NM_017890.4(VPS13B):c.11119+2T>C rs587777382
NM_017890.4(VPS13B):c.11125del (p.Leu3709fs) rs386834058
NM_017890.4(VPS13B):c.11486dup (p.Leu3830fs)
NM_017890.4(VPS13B):c.11571-2A>G rs1554588353
NM_017890.4(VPS13B):c.11595del (p.Arg3865fs) rs747217399
NM_017890.4(VPS13B):c.11695_11698del (p.Ser3901fs) rs386834066
NM_017890.4(VPS13B):c.11780_11784delinsAGAA (p.Thr3927fs) rs386834067
NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152
NM_017890.4(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_017890.4(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_017890.4(VPS13B):c.3346_3347CT[1] (p.Cys1117fs) rs180177327
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) rs120074151
NM_017890.4(VPS13B):c.4684_4685del (p.Glu1562fs) rs1554826615
NM_017890.4(VPS13B):c.4820+2T>C rs386834091
NM_017890.4(VPS13B):c.4949_4950GT[1] (p.Val1651fs)
NM_017890.4(VPS13B):c.5246del (p.Gln1748_Leu1749insTer)
NM_017890.4(VPS13B):c.5590C>T (p.Gln1864Ter) rs1057516633
NM_017890.4(VPS13B):c.5608dup (p.Thr1870fs)
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) rs386834099
NM_017890.4(VPS13B):c.5983+2dup rs587777381
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.6084del (p.Phe2028fs) rs1357171752
NM_017890.4(VPS13B):c.6218_6219CA[2] (p.His2074fs)
NM_017890.4(VPS13B):c.6374_6383del (p.Trp2125fs) rs1554911731
NM_017890.4(VPS13B):c.6578T>G (p.Leu2193Arg) rs120074149
NM_017890.4(VPS13B):c.6653_6654insTA (p.Trp2218fs) rs1554922054
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) rs146960401
NM_017890.4(VPS13B):c.7051C>T (p.Arg2351Ter) rs120074150
NM_017890.4(VPS13B):c.7174del (p.Ala2392fs) rs1554948192
NM_017890.4(VPS13B):c.7322+2T>C rs1563908020
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_017890.4(VPS13B):c.8117_8118del (p.Gly2706fs) rs1554560735
NM_017890.4(VPS13B):c.8459T>C (p.Ile2820Thr) rs120074155
NM_017890.4(VPS13B):c.8496del (p.Asn2833fs)
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8521-1G>T rs1554566596
NM_017890.4(VPS13B):c.8902C>T (p.Arg2968Ter)
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.8990G>A (p.Trp2997Ter) rs797046098
NM_017890.4(VPS13B):c.9070-2A>G rs1554569259
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9406-1G>C rs386834119
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_017890.4(VPS13B):c.9491G>A (p.Trp3164Ter) rs1563497844
NM_017890.4(VPS13B):c.9760C>T (p.Arg3254Ter) rs941969577
Single allele
VPS13B, 1-BP DEL, 11564A
VPS13B, EX46-50DEL
VPS13B, EX6-16DEL

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