ClinVar Miner

List of variants in gene VPS13B reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP
GRCh37/hg19 8q22.2(chr8:100091912-100198780)x1
GRCh37/hg19 8q22.2(chr8:100120427-100423020)x1
GRCh37/hg19 8q22.2(chr8:99991771-100220890)x1
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.1225G>T (p.Glu409Ter) rs386834071
NM_015243.2(VPS13B):c.1336C>T (p.Gln446Ter) rs1554634138
NM_015243.2(VPS13B):c.1418del (p.Ser473fs) rs1563560592
NM_015243.2(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354
NM_015243.2(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_015243.2(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_015243.2(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
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.2410C>T (p.Gln804Ter) rs869312923
NM_015243.2(VPS13B):c.292-1G>A rs1057520768
NM_015243.2(VPS13B):c.572del (p.Asp191fs)
NM_015243.2(VPS13B):c.816dup (p.Met273fs) rs1554622647
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.10454_10455AG[1] (p.Leu3487fs) rs180177371
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.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11119+2T>C rs587777382
NM_017890.4(VPS13B):c.11125del (p.Leu3709fs) rs386834058
NM_017890.4(VPS13B):c.11199_11200delinsT (p.Asn3734fs) rs1064793747
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.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11453C>G (p.Ser3818Ter) rs794727771
NM_017890.4(VPS13B):c.11468-2A>C rs1554588038
NM_017890.4(VPS13B):c.11486dup (p.Leu3830fs)
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.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.11907dup (p.Ser3970fs) rs180177374
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_017890.4(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_017890.4(VPS13B):c.2788C>T (p.Gln930Ter) rs372949456
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
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.2934+1_2934+2del rs180177358
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.4620del (p.Ser1541fs) rs1057518939
NM_017890.4(VPS13B):c.4684_4685del (p.Glu1562fs) rs1554826615
NM_017890.4(VPS13B):c.4820+2T>C rs386834091
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.4949_4950GT[1] (p.Val1651fs)
NM_017890.4(VPS13B):c.4955C>G (p.Ser1652Ter) rs180177361
NM_017890.4(VPS13B):c.5080dup (p.Ser1694fs) rs886042930
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.5246del (p.Gln1748_Leu1749insTer)
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.5462_5465dup (p.Arg1824fs) rs1554884733
NM_017890.4(VPS13B):c.5590C>T (p.Gln1864Ter) rs1057516633
NM_017890.4(VPS13B):c.5608dup (p.Thr1870fs)
NM_017890.4(VPS13B):c.5753_5754del (p.Leu1918fs) rs886041586
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) rs386834099
NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter) rs180177365
NM_017890.4(VPS13B):c.5983+2dup rs587777381
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.6084del (p.Phe2028fs) rs1357171752
NM_017890.4(VPS13B):c.6200T>A (p.Leu2067Ter) rs371364257
NM_017890.4(VPS13B):c.6218_6219CA[2] (p.His2074fs)
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.6374_6383del (p.Trp2125fs) rs1554911731
NM_017890.4(VPS13B):c.6384_6385del (p.Ser2129fs) rs1064796925
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.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) rs146960401
NM_017890.4(VPS13B):c.6823C>T (p.Gln2275Ter)
NM_017890.4(VPS13B):c.7051C>T (p.Arg2351Ter) rs120074150
NM_017890.4(VPS13B):c.7153G>T (p.Glu2385Ter) rs180177368
NM_017890.4(VPS13B):c.7174del (p.Ala2392fs) rs1554948192
NM_017890.4(VPS13B):c.7292del (p.Asn2431fs) rs886041184
NM_017890.4(VPS13B):c.7322+2T>C rs1563908020
NM_017890.4(VPS13B):c.7322_7322+1delinsATGGAGC rs180177367
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.7934G>A (p.Gly2645Asp) rs120074153
NM_017890.4(VPS13B):c.8014C>T (p.Gln2672Ter) rs753282248
NM_017890.4(VPS13B):c.8117_8118del (p.Gly2706fs) rs1554560735
NM_017890.4(VPS13B):c.8254C>T (p.Gln2752Ter) rs886041678
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.8362del (p.Ala2788fs) rs1554565645
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.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.8902C>T (p.Arg2968Ter)
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.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.9405+1G>C rs756013171
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.9547C>T (p.Gln3183Ter) rs753770252
NM_017890.4(VPS13B):c.9709C>T (p.Gln3237Ter) rs1563499381
NM_017890.4(VPS13B):c.9760C>T (p.Arg3254Ter) rs941969577
NM_017890.4(VPS13B):c.9793dup (p.Met3265fs) rs886041185
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4(VPS13B):c.[3582delT];[6370_6371delAT]
Single allele
VPS13B, 1-BP DEL, 11564A
VPS13B, EX46-50DEL
VPS13B, EX6-16DEL

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