ClinVar Miner

List of variants in gene VPS13A reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter) rs764376151 0.00005
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) rs200280742 0.00004
NM_033305.3(VPS13A):c.9367del (p.Val3123fs) rs1358293369 0.00004
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter) rs771943305 0.00002
NM_033305.3(VPS13A):c.6340C>T (p.Arg2114Ter) rs1417854249 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_033305.3(VPS13A):c.2149C>T (p.Gln717Ter) rs1825075709 0.00001
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter) rs1827161118 0.00001
NM_033305.3(VPS13A):c.4242+1G>T rs754245019 0.00001
NM_033305.3(VPS13A):c.4969_5011del (p.Ile1657fs) rs1469144732 0.00001
NM_033305.3(VPS13A):c.5881C>T (p.Arg1961Ter) rs1286714220 0.00001
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) rs771004767 0.00001
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) rs148173878 0.00001
NC_000009.11:g.(?_79792611)_(79792730_?)del
NC_000009.11:g.(?_79792611)_(80030932_?)del
NC_000009.11:g.(?_79814841)_(79867288_?)del
NC_000009.11:g.(?_79851768)_79854605del
NC_000009.11:g.(?_79952161)_(79959207_?)del
NC_000009.11:g.(?_79959059)_(79960068_?)del
NC_000009.11:g.(?_79982961)_(79999609_?)del
NC_000009.11:g.(?_79996872)_(80022543_?)del
NC_000009.11:g.(?_79996872)_(80030922_?)del
NC_000009.11:g.(?_80018142)_(80030932_?)del
NC_000009.12:g.(?_77209413)_(77276231_?)del
NC_000009.12:g.(?_77212959)_(77213324_?)del
NC_000009.12:g.(?_77250087)_(77252362_?)del
NC_000009.12:g.(?_77280149)_(77295856_?)del
NC_000009.12:g.77337257_77337282del rs1174858706
NC_000009.12:g.77345010_77345025del
NM_033305.3(VPS13A):c.1032C>A (p.Cys344Ter) rs2131179725
NM_033305.3(VPS13A):c.1052C>A (p.Ser351Ter)
NM_033305.3(VPS13A):c.1078C>T (p.Gln360Ter)
NM_033305.3(VPS13A):c.1095T>G (p.Tyr365Ter) rs2131179937
NM_033305.3(VPS13A):c.1099G>T (p.Glu367Ter) rs2131179950
NM_033305.3(VPS13A):c.1108A>T (p.Lys370Ter) rs1587358566
NM_033305.3(VPS13A):c.1115del (p.Lys372fs)
NM_033305.3(VPS13A):c.1115dup (p.Leu373fs)
NM_033305.3(VPS13A):c.1125_1128del (p.Ser375fs) rs748999076
NM_033305.3(VPS13A):c.1162G>T (p.Glu388Ter) rs2131193680
NM_033305.3(VPS13A):c.1290G>A (p.Trp430Ter) rs1238782647
NM_033305.3(VPS13A):c.1304_1313del (p.Leu434_Trp435insTer) rs2131195627
NM_033305.3(VPS13A):c.1305del (p.Trp435fs) rs1564645568
NM_033305.3(VPS13A):c.1313C>G (p.Ser438Ter) rs2131195653
NM_033305.3(VPS13A):c.1321_1322del (p.Asn441fs) rs2131195691
NM_033305.3(VPS13A):c.135_139del (p.Glu45fs)
NM_033305.3(VPS13A):c.1400_1401del (p.Leu466_Tyr467insTer) rs1823578716
NM_033305.3(VPS13A):c.145-2A>T rs1447002141
NM_033305.3(VPS13A):c.1528dup (p.Leu510fs)
NM_033305.3(VPS13A):c.1562T>G (p.Leu521Ter)
NM_033305.3(VPS13A):c.1596-1G>C
NM_033305.3(VPS13A):c.1596-2A>G rs2131230395
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
NM_033305.3(VPS13A):c.165del (p.Phe55fs)
NM_033305.3(VPS13A):c.1797_1798dup (p.Ser600fs)
NM_033305.3(VPS13A):c.1807G>T (p.Glu603Ter)
NM_033305.3(VPS13A):c.1869del (p.Lys623fs) rs2131231475
NM_033305.3(VPS13A):c.187+1dup
NM_033305.3(VPS13A):c.1881dup (p.Arg628fs) rs2131231500
NM_033305.3(VPS13A):c.1978C>T (p.Gln660Ter)
NM_033305.3(VPS13A):c.209del (p.Pro70fs) rs2131122992
NM_033305.3(VPS13A):c.2102_2103del (p.Ile701fs)
NM_033305.3(VPS13A):c.2140dup (p.Thr714fs) rs2131267421
NM_033305.3(VPS13A):c.217_218del (p.Asn73fs)
NM_033305.3(VPS13A):c.218del (p.Asn73fs) rs1825576567
NM_033305.3(VPS13A):c.2200dup (p.Ser734fs)
NM_033305.3(VPS13A):c.2250_2253del (p.Ser751fs)
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) rs1825188183
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) rs1417246536
NM_033305.3(VPS13A):c.2336dup (p.Asp779fs) rs2131293113
NM_033305.3(VPS13A):c.2343del (p.Lys781fs)
NM_033305.3(VPS13A):c.2343dup (p.Leu782fs)
NM_033305.3(VPS13A):c.2405del (p.Ser802fs) rs2131293274
NM_033305.3(VPS13A):c.2412del (p.Val805fs) rs2131293320
NM_033305.3(VPS13A):c.2456C>G (p.Ser819Ter) rs762390488
NM_033305.3(VPS13A):c.2458_2462del (p.Gln820fs)
NM_033305.3(VPS13A):c.2484_2485del (p.Leu829fs) rs1826458502
NM_033305.3(VPS13A):c.2500del (p.Val834fs) rs2131325474
NM_033305.3(VPS13A):c.2516C>A (p.Ser839Ter)
NM_033305.3(VPS13A):c.2593C>T (p.Arg865Ter) rs766404788
NM_033305.3(VPS13A):c.261_264del (p.Leu88_Leu89insTer) rs1589994032
NM_033305.3(VPS13A):c.2624C>G (p.Ser875Ter)
NM_033305.3(VPS13A):c.263del (p.Leu88fs) rs2131123226
NM_033305.3(VPS13A):c.2716del (p.Val905_Val906insTer) rs1185750493
NM_033305.3(VPS13A):c.2741del (p.Gly914fs) rs2131332519
NM_033305.3(VPS13A):c.2757del (p.Arg920fs)
NM_033305.3(VPS13A):c.2765dup (p.Tyr922Ter) rs762247401
NM_033305.3(VPS13A):c.2789dup (p.Leu930fs)
NM_033305.3(VPS13A):c.2824+1G>A
NM_033305.3(VPS13A):c.2833A>T (p.Lys945Ter)
NM_033305.3(VPS13A):c.2903dup (p.Ala969fs)
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter) rs1827048548
NM_033305.3(VPS13A):c.302_306del (p.Pro100_Leu101insTer) rs2131125631
NM_033305.3(VPS13A):c.3051dup (p.Glu1018fs)
NM_033305.3(VPS13A):c.3052del (p.Glu1018fs) rs2131347192
NM_033305.3(VPS13A):c.308_309del (p.Glu103fs)
NM_033305.3(VPS13A):c.3091del (p.Asp1031fs)
NM_033305.3(VPS13A):c.3157C>T (p.Gln1053Ter) rs766694176
NM_033305.3(VPS13A):c.3184C>T (p.Gln1062Ter) rs1827159007
NM_033305.3(VPS13A):c.3200_3201insCC (p.Gln1068fs)
NM_033305.3(VPS13A):c.3227del (p.Lys1076fs) rs1406208410
NM_033305.3(VPS13A):c.3304del (p.Val1102fs)
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter) rs780664594
NM_033305.3(VPS13A):c.3394del (p.Asp1132fs) rs756830060
NM_033305.3(VPS13A):c.3421_3422del (p.Asp1141fs)
NM_033305.3(VPS13A):c.3456_3459del (p.Ile1152fs) rs2131371963
NM_033305.3(VPS13A):c.3459del (p.Gly1154fs) rs2131371975
NM_033305.3(VPS13A):c.3480dup (p.Val1161fs)
NM_033305.3(VPS13A):c.3481dup (p.Val1161fs) rs2131372034
NM_033305.3(VPS13A):c.3513dup (p.Ile1172fs)
NM_033305.3(VPS13A):c.3562C>T (p.Gln1188Ter)
NM_033305.3(VPS13A):c.3574_3575del (p.Met1192fs)
NM_033305.3(VPS13A):c.3597_3598insT (p.Leu1200fs)
NM_033305.3(VPS13A):c.3664C>T (p.Gln1222Ter)
NM_033305.3(VPS13A):c.3748C>T (p.Gln1250Ter)
NM_033305.3(VPS13A):c.3761dup (p.Pro1255fs) rs2131376583
NM_033305.3(VPS13A):c.3769del (p.Ile1257fs)
NM_033305.3(VPS13A):c.3802C>T (p.Arg1268Ter)
NM_033305.3(VPS13A):c.3817C>T (p.Arg1273Ter) rs756096368
NM_033305.3(VPS13A):c.3841del (p.Glu1281fs)
NM_033305.3(VPS13A):c.3866dup (p.Leu1289fs) rs2131394444
NM_033305.3(VPS13A):c.3909G>A (p.Trp1303Ter)
NM_033305.3(VPS13A):c.3913C>T (p.Gln1305Ter) rs2131394544
NM_033305.3(VPS13A):c.3943C>T (p.Gln1315Ter)
NM_033305.3(VPS13A):c.3996del (p.Phe1332fs)
NM_033305.3(VPS13A):c.4054del (p.Thr1352fs)
NM_033305.3(VPS13A):c.4072_4073del (p.Ala1358fs)
NM_033305.3(VPS13A):c.4205_4208del (p.Asp1402fs)
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) rs2131427489
NM_033305.3(VPS13A):c.4284del (p.Glu1429fs) rs2131427592
NM_033305.3(VPS13A):c.4326T>A (p.Tyr1442Ter)
NM_033305.3(VPS13A):c.4367_4368del (p.Cys1456fs)
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) rs1193250444
NM_033305.3(VPS13A):c.4428_4431del (p.Gly1478fs) rs1417219341
NM_033305.3(VPS13A):c.4446dup (p.Asp1483fs) rs1829322194
NM_033305.3(VPS13A):c.4455_4458del (p.Met1485fs)
NM_033305.3(VPS13A):c.4498dup (p.Ala1500fs) rs1564721202
NM_033305.3(VPS13A):c.4692_4693del (p.Phe1565fs) rs1296924903
NM_033305.3(VPS13A):c.4715dup (p.Asn1572fs)
NM_033305.3(VPS13A):c.4749_4750del (p.Cys1583_Glu1584delinsTer)
NM_033305.3(VPS13A):c.4879_4880dup (p.Asp1627fs)
NM_033305.3(VPS13A):c.4900C>T (p.Gln1634Ter)
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) rs1829478568
NM_033305.3(VPS13A):c.4956+1G>A rs1085307823
NM_033305.3(VPS13A):c.49dup (p.Asp17fs) rs2131030113
NM_033305.3(VPS13A):c.5024dup (p.Glu1677fs) rs2131439491
NM_033305.3(VPS13A):c.5032del (p.Glu1678fs)
NM_033305.3(VPS13A):c.5051del (p.Ala1684fs)
NM_033305.3(VPS13A):c.5057del (p.Leu1686fs)
NM_033305.3(VPS13A):c.5075_5076del (p.Thr1692fs) rs2131439679
NM_033305.3(VPS13A):c.5125dup (p.Ile1709fs) rs2131439817
NM_033305.3(VPS13A):c.5219_5222dup (p.Val1742fs)
NM_033305.3(VPS13A):c.5345G>A (p.Trp1782Ter)
NM_033305.3(VPS13A):c.5367dup (p.Glu1790fs)
NM_033305.3(VPS13A):c.5370_5371insT (p.Ile1791fs) rs2131443885
NM_033305.3(VPS13A):c.5425_5428del (p.Lys1809fs)
NM_033305.3(VPS13A):c.5480del (p.Pro1827fs) rs1829725848
NM_033305.3(VPS13A):c.5494_5495del (p.Val1832fs)
NM_033305.3(VPS13A):c.5496_5497insT (p.Ile1833fs)
NM_033305.3(VPS13A):c.551_554del (p.Met184fs) rs1825930993
NM_033305.3(VPS13A):c.5522T>A (p.Leu1841Ter)
NM_033305.3(VPS13A):c.5553_5557dup (p.Leu1853Ter)
NM_033305.3(VPS13A):c.5567T>A (p.Leu1856Ter)
NM_033305.3(VPS13A):c.5574+1del
NM_033305.3(VPS13A):c.5658del (p.Thr1887fs)
NM_033305.3(VPS13A):c.5696_5700del (p.Leu1899fs) rs1829753665
NM_033305.3(VPS13A):c.5761C>T (p.Arg1921Ter) rs1369905878
NM_033305.3(VPS13A):c.5904_5907del (p.His1968fs) rs2131454714
NM_033305.3(VPS13A):c.5905dup (p.Arg1969fs)
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs) rs1251833565
NM_033305.3(VPS13A):c.5935dup (p.Cys1979fs)
NM_033305.3(VPS13A):c.5989C>T (p.Gln1997Ter) rs2131455014
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.6160G>T (p.Glu2054Ter)
NM_033305.3(VPS13A):c.6272dup (p.Ser2092fs)
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs) rs1587612257
NM_033305.3(VPS13A):c.6284C>G (p.Ser2095Ter)
NM_033305.3(VPS13A):c.6357C>A (p.Tyr2119Ter) rs2131499119
NM_033305.3(VPS13A):c.6392C>A (p.Ser2131Ter) rs1394368004
NM_033305.3(VPS13A):c.647G>A (p.Trp216Ter) rs2131153571
NM_033305.3(VPS13A):c.6482_6483del (p.Leu2161fs) rs2131505194
NM_033305.3(VPS13A):c.6555T>A (p.Cys2185Ter)
NM_033305.3(VPS13A):c.6581T>G (p.Leu2194Ter) rs1830715603
NM_033305.3(VPS13A):c.6606del (p.Thr2201_Tyr2202insTer)
NM_033305.3(VPS13A):c.6616C>T (p.Gln2206Ter)
NM_033305.3(VPS13A):c.6617_6618insTA (p.Gln2206fs)
NM_033305.3(VPS13A):c.6633dup (p.His2212fs) rs2131505712
NM_033305.3(VPS13A):c.6700C>T (p.Arg2234Ter)
NM_033305.3(VPS13A):c.6725del (p.Lys2242fs)
NM_033305.3(VPS13A):c.6741_6745del (p.Phe2248fs)
NM_033305.3(VPS13A):c.6792_6799dup (p.Glu2267fs)
NM_033305.3(VPS13A):c.6841G>T (p.Gly2281Ter) rs1409058629
NM_033305.3(VPS13A):c.6876_6877del (p.Tyr2292_Gln2293delinsTer)
NM_033305.3(VPS13A):c.6877C>T (p.Gln2293Ter) rs2131507600
NM_033305.3(VPS13A):c.6915del (p.Thr2306fs)
NM_033305.3(VPS13A):c.6969C>A (p.Tyr2323Ter)
NM_033305.3(VPS13A):c.6978_6981dup (p.Ala2328fs)
NM_033305.3(VPS13A):c.7005G>A (p.Trp2335Ter) rs1563939611
NM_033305.3(VPS13A):c.7012_7013del (p.Ser2337_Leu2338insTer) rs1563939617
NM_033305.3(VPS13A):c.7035del (p.Trp2347fs)
NM_033305.3(VPS13A):c.7072C>T (p.Gln2358Ter) rs981025037
NM_033305.3(VPS13A):c.7078G>T (p.Glu2360Ter)
NM_033305.3(VPS13A):c.7096_7112dup (p.Asn2372fs)
NM_033305.3(VPS13A):c.7154_7155insAGTA (p.Leu2386fs) rs778985780
NM_033305.3(VPS13A):c.7155+1del rs753100746
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
NM_033305.3(VPS13A):c.7253del (p.Asn2418fs)
NM_033305.3(VPS13A):c.72dup (p.Ser25fs) rs2131030226
NM_033305.3(VPS13A):c.7339dup (p.Tyr2447fs) rs1419127345
NM_033305.3(VPS13A):c.7347G>A (p.Trp2449Ter)
NM_033305.3(VPS13A):c.7369dup (p.Arg2457fs) rs1831457676
NM_033305.3(VPS13A):c.7486C>T (p.Gln2496Ter) rs1191270963
NM_033305.3(VPS13A):c.7535_7536del (p.Thr2511_Tyr2512insTer) rs2131546441
NM_033305.3(VPS13A):c.753dup (p.Val252fs)
NM_033305.3(VPS13A):c.7585del (p.Gln2529fs)
NM_033305.3(VPS13A):c.7638dup (p.Ile2547fs)
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.7806G>A (p.Pro2602=)
NM_033305.3(VPS13A):c.7811_7814dup (p.Thr2606fs) rs2131556360
NM_033305.3(VPS13A):c.78dup (p.Leu27fs) rs2131030277
NM_033305.3(VPS13A):c.8046_8049del (p.Phe2683fs)
NM_033305.3(VPS13A):c.8115dup (p.Val2706fs)
NM_033305.3(VPS13A):c.8243_8250del (p.Ala2747_Phe2748insTer)
NM_033305.3(VPS13A):c.8301del (p.Glu2767fs) rs2131577839
NM_033305.3(VPS13A):c.8302del (p.Tyr2768fs)
NM_033305.3(VPS13A):c.8341dup (p.Ser2781fs) rs2131580177
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) rs756865623
NM_033305.3(VPS13A):c.8390del (p.Gly2797fs) rs748941459
NM_033305.3(VPS13A):c.8494_8495insTT (p.Tyr2832fs)
NM_033305.3(VPS13A):c.854_858del (p.Asn285fs) rs1823102495
NM_033305.3(VPS13A):c.8563dup (p.Gln2855fs) rs1832616472
NM_033305.3(VPS13A):c.8613del (p.Gly2871_Leu2872insTer)
NM_033305.3(VPS13A):c.8653dup (p.Tyr2885fs)
NM_033305.3(VPS13A):c.8656G>T (p.Glu2886Ter)
NM_033305.3(VPS13A):c.8664C>A (p.Tyr2888Ter) rs1241810634
NM_033305.3(VPS13A):c.8724_8725dup (p.Leu2909fs)
NM_033305.3(VPS13A):c.8775del (p.Gly2926fs)
NM_033305.3(VPS13A):c.8848_8860del (p.Asn2950fs) rs1832691674
NM_033305.3(VPS13A):c.8939_8942del (p.Thr2980fs) rs1832712113
NM_033305.3(VPS13A):c.9068del (p.Gly3023fs) rs1480778616
NM_033305.3(VPS13A):c.9087_9088del (p.Glu3029fs)
NM_033305.3(VPS13A):c.9094G>T (p.Glu3032Ter) rs2131614102
NM_033305.3(VPS13A):c.9181_9182dup (p.Met3061fs)
NM_033305.3(VPS13A):c.9219C>G (p.Tyr3073Ter)
NM_033305.3(VPS13A):c.9251_9252del (p.Thr3084fs)
NM_033305.3(VPS13A):c.9253_9254del (p.Asp3085fs) rs2131647728
NM_033305.3(VPS13A):c.9276-2A>C
NM_033305.3(VPS13A):c.9276-2A>T
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610
NM_033305.3(VPS13A):c.9343G>T (p.Glu3115Ter)
NM_033305.3(VPS13A):c.9349_9383dup (p.Arg3129fs) rs2131654698
NM_033305.3(VPS13A):c.9353_9356dup (p.Pro3120fs)
NM_033305.3(VPS13A):c.9386_9387del (p.Arg3129fs)
NM_033305.3(VPS13A):c.9429_9432del (p.Arg3143fs) rs1085307750
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
NM_033305.3(VPS13A):c.952A>T (p.Lys318Ter) rs1823130291
NM_033305.3(VPS13A):c.994del (p.Ala332fs) rs1353432136
Single allele

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