ClinVar Miner

Variants in gene VPS13A with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
3592 246 0 80 36 1 2 106

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 19 1 1 1 1 1
likely pathogenic 18 0 1 0 0 0 0
uncertain significance 0 1 0 27 14 0 0
likely benign 0 0 27 0 61 0 0
benign 0 0 14 61 0 0 0

All variants with conflicting interpretations #

Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.615+20G>C rs17723908 0.07780
NM_033305.3(VPS13A):c.6379-7A>T rs759586753 0.07351
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala) rs78048112 0.01849
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276 0.01761
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) rs73467962 0.01369
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=) rs73654012 0.01345
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=) rs73449933 0.01319
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=) rs73466058 0.01287
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00867
NM_033305.3(VPS13A):c.6880-19G>C rs183040221 0.00852
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00850
NM_033305.3(VPS13A):c.1358-29A>G rs139845549 0.00710
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_033305.3(VPS13A):c.8472-12C>T rs115077471 0.00651
NM_033305.3(VPS13A):c.3813-15T>C rs145835861 0.00639
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_033305.3(VPS13A):c.6379-17T>G rs373072093 0.00577
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) rs114699935 0.00559
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00534
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00457
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00410
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00388
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=) rs73467954 0.00370
NM_033305.3(VPS13A):c.9190-20C>T rs140755181 0.00360
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=) rs73466090 0.00324
NM_033305.3(VPS13A):c.101-7T>C rs190684534 0.00311
NM_033305.3(VPS13A):c.2667+12G>A rs199995355 0.00310
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00253
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00197
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu) rs142058362 0.00180
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00172
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00172
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) rs141835897 0.00171
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) rs74983687 0.00164
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=) rs139115188 0.00115
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) rs145346590 0.00093
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00092
NM_033305.3(VPS13A):c.8016G>C (p.Lys2672Asn) rs77984203 0.00092
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.6096-7C>T rs190144287 0.00061
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) rs146574121 0.00053
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00047
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00032
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309 0.00030
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779 0.00029
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) rs146158125 0.00017
NM_033305.3(VPS13A):c.5439C>T (p.Ala1813=) rs117654083 0.00016
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=) rs552113529 0.00015
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591 0.00014
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00011
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) rs527418139 0.00010
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser) rs182495915 0.00009
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) rs200280742 0.00004
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter) rs919186738 0.00003
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00003
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser) rs768641511 0.00003
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala) rs368916151 0.00002
NM_033305.3(VPS13A):c.550A>G (p.Met184Val) rs1825931122 0.00001
NM_033305.3(VPS13A):c.555+4T>G rs753300394 0.00001
NM_033305.3(VPS13A):c.6700C>T (p.Arg2234Ter) rs748922513 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.8325+1G>A rs1459022689 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_033305.3(VPS13A):c.1596-1G>C rs2537666515
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter) rs758612012
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter) rs1827048548
NM_033305.3(VPS13A):c.3119-5del rs536731890
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_033305.3(VPS13A):c.555+1G>A rs1590003601
NM_033305.3(VPS13A):c.556-10dup rs767393485
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7155+14del rs747383490
NM_033305.3(VPS13A):c.7156-2A>T rs1587628060
NM_033305.3(VPS13A):c.755-1G>A rs2537595478
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.9068del (p.Gly3023fs) rs1480778616
NM_033305.3(VPS13A):c.9189+2545TGA[10] rs113052866
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9276-2A>T rs2538317743
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610
NM_033305.3(VPS13A):c.9351_9391dup (p.Glu3131fs)
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
Single allele

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