ClinVar Miner

List of variants in gene VPS13B reported as likely pathogenic by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP
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.1269_1273del (p.Cys425fs) rs386834072
NM_015243.2(VPS13B):c.1844-2A>G rs386834073
NM_015243.2(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_015243.2(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_015243.2(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_015243.2(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_015243.2(VPS13B):c.292-2A>G rs386834079
NM_015243.2(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_015243.2(VPS13B):c.463_466ATAA[1] (p.Asn156fs) rs386834090
NM_015243.2(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_017890.4(VPS13B):c.10074_10075CA[1] (p.Thr3359fs) rs386834054
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_017890.4(VPS13B):c.10839_10840TC[1] (p.Leu3614fs) rs386834056
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11125del (p.Leu3709fs) rs386834058
NM_017890.4(VPS13B):c.11169_11172dup (p.Arg3725fs) rs386834059
NM_017890.4(VPS13B):c.11216G>A (p.Trp3739Ter) rs386834060
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11505del (p.Lys3835fs) rs386834062
NM_017890.4(VPS13B):c.11556dup (p.Val3853fs) rs386834063
NM_017890.4(VPS13B):c.11564del (p.Tyr3855fs) rs386834064
NM_017890.4(VPS13B):c.11598del (p.Glu3867fs) rs386834065
NM_017890.4(VPS13B):c.11695_11698del (p.Ser3901fs) rs386834066
NM_017890.4(VPS13B):c.11780_11784delinsAA (p.Thr3927_Val3928delinsLys) rs386834067
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.11906_11915del (p.Pro3969fs) rs386834069
NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs) rs180177374
NM_017890.4(VPS13B):c.2651-1G>A rs386834077
NM_017890.4(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.2934+1_2934+2delGT rs180177358
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.3618T>A (p.Cys1206Ter) rs386834081
NM_017890.4(VPS13B):c.3666+2T>C rs386834082
NM_017890.4(VPS13B):c.4334del (p.Gln1445fs) rs386834084
NM_017890.4(VPS13B):c.4396dup (p.Thr1466fs) rs386834085
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.4474del (p.Ile1492fs) rs386834087
NM_017890.4(VPS13B):c.4477_4479CTT[1] (p.Leu1494del) rs386834088
NM_017890.4(VPS13B):c.4572dup (p.Glu1525fs) rs386834089
NM_017890.4(VPS13B):c.4820+2T>C rs386834091
NM_017890.4(VPS13B):c.4878_4880dup (p.Tyr1627Ter) rs180177359
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5331dup (p.Asp1778Ter) rs386834094
NM_017890.4(VPS13B):c.5424_5425AG[3] (p.Gln1810fs) rs180177363
NM_017890.4(VPS13B):c.5461dup (p.Arg1821fs) rs180177364
NM_017890.4(VPS13B):c.5613_5614insT (p.Lys1872Ter) rs1554884838
NM_017890.4(VPS13B):c.5737dup (p.Ile1913fs) rs386834096
NM_017890.4(VPS13B):c.5750del (p.Ser1917fs) rs386834097
NM_017890.4(VPS13B):c.5809_5810del (p.Ile1937fs) rs386834098
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) rs386834099
NM_017890.4(VPS13B):c.6420_6421del (p.Gln2140fs) rs386834101
NM_017890.4(VPS13B):c.6687del (p.Gln2229fs) rs386834102
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.7022A>G (p.Tyr2341Cys) rs386834104
NM_017890.4(VPS13B):c.7221del (p.Gln2407fs) rs386834105
NM_017890.4(VPS13B):c.7504+1G>A rs386834106
NM_017890.4(VPS13B):c.7603C>T (p.Arg2535Ter) rs386834107
NM_017890.4(VPS13B):c.7610G>A (p.Trp2537Ter) rs386834108
NM_017890.4(VPS13B):c.7936del (p.Gln2646fs) rs386834109
NM_017890.4(VPS13B):c.8119C>T (p.Arg2707Ter) rs386834110
NM_017890.4(VPS13B):c.8341del (p.Glu2780_Leu2781insTer) rs386834111
NM_017890.4(VPS13B):c.8472G>A (p.Trp2824Ter) rs386834112
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8611del (p.Thr2871fs) rs386834114
NM_017890.4(VPS13B):c.8697-2A>G rs386834115
NM_017890.4(VPS13B):c.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_017890.4(VPS13B):c.9690-2A>G rs386834120
NM_017890.4(VPS13B):c.9706del (p.Tyr3236fs) rs386834121
NM_017890.4(VPS13B):c.9731del (p.Tyr3244fs) rs386834122

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.