ClinVar Miner

Variants in gene SPG11 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:
ClinVar version:

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
1120 41 44 33 41 1 6 114

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 affects
pathogenic 44 8 6 0 0 0
likely pathogenic 8 0 1 0 0 0
uncertain significance 6 1 0 32 14 0
likely benign 0 0 32 0 25 0
benign 0 0 14 25 0 1
affects 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 114
Download table as spreadsheet
HGVS dbSNP
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.4(SPG11):c.1008-4C>T rs369112409
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys) rs3759875
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871
NM_025137.4(SPG11):c.1457-4A>G rs773844127
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs) rs312262730
NM_025137.4(SPG11):c.1605C>T (p.Ala535=) rs117683234
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440
NM_025137.4(SPG11):c.2082C>T (p.Ser694=) rs375179506
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2163dup (p.Ile722fs) rs312262738
NM_025137.4(SPG11):c.2169C>T (p.Gly723=) rs371338650
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) rs312262739
NM_025137.4(SPG11):c.2280C>T (p.Cys760=) rs567932275
NM_025137.4(SPG11):c.2316+1G>A rs312262740
NM_025137.4(SPG11):c.2444+1G>C rs312262743
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter) rs312262744
NM_025137.4(SPG11):c.257+13G>A rs201936649
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) rs312262748
NM_025137.4(SPG11):c.2834+1G>T rs312262749
NM_025137.4(SPG11):c.2887A>C (p.Arg963=) rs150689014
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=)
NM_025137.4(SPG11):c.3146-6T>G rs777849932
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val) rs114945876
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=) rs139532029
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter) rs312262711
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) rs312262755
NM_025137.4(SPG11):c.36C>T (p.Ser12=) rs368656047
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275
NM_025137.4(SPG11):c.4001+9G>T rs141177255
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=) rs139887370
NM_025137.4(SPG11):c.4162-10T>C rs765557765
NM_025137.4(SPG11):c.4162-4C>T rs777010404
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly) rs182535774
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=) rs145579121
NM_025137.4(SPG11):c.442+1G>C rs312262715
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=) rs151137503
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389
NM_025137.4(SPG11):c.4744-6T>C rs147550048
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter) rs764186203
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=) rs144951661
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu) rs148175530
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs) rs312262766
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292
NM_025137.4(SPG11):c.5703del (p.His1902fs) rs312262769
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5796T>C (p.His1932=) rs375350193
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848
NM_025137.4(SPG11):c.6021del (p.Tyr2008fs) rs886051179
NM_025137.4(SPG11):c.60G>C (p.Ala20=) rs544136842
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934
NM_025137.4(SPG11):c.6205+10C>G rs548551204
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser) rs185665930
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349
NM_025137.4(SPG11):c.642del (p.Phe214fs) rs312262717
NM_025137.4(SPG11):c.6451del (p.Ala2151fs) rs312262779
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His) rs144165094
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp) rs151317653
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val) rs147962000
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025137.4(SPG11):c.7000-3_7000-2insAGG rs312262787
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869
NM_025137.4(SPG11):c.7029dup (p.Val2344fs) rs312262788
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=) rs747227352
NM_025137.4(SPG11):c.7152-1G>C rs200079802
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) rs61732733
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025137.4(SPG11):c.869+1G>A rs312262721

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