ClinVar Miner

Variants with conflicting interpretations studied for Spastic paraplegia 11, autosomal recessive

Coded as:
Minimum review status of the submission for Spastic paraplegia 11, autosomal recessive: Y axis collection method of the submission for Spastic paraplegia 11, autosomal recessive:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
352 39 30 38 26 0 4 84

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.

All conditions
Spastic paraplegia 11, autosomal recessive pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 30 10 3 0 0
likely pathogenic 7 0 1 0 0
uncertain significance 3 2 0 4 0
likely benign 0 0 17 0 11
benign 0 0 10 27 0

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Spastic paraplegia 11, autosomal recessive 420 12 27 17 1 0 3 43
not provided 0 19 12 17 7 0 3 32
not specified 0 13 0 22 6 0 0 27
Spastic Paraplegia, Recessive 0 8 0 6 16 0 0 22
Amyotrophic lateral sclerosis type 5 0 0 6 1 0 0 0 6
Charcot-Marie-Tooth disease, axonal type 2X 0 1 3 1 0 0 0 4
Hereditary spastic paraplegia 0 0 1 1 1 0 0 2
Abnormality of brain morphology 0 0 0 1 0 0 0 1
Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 84
Download table as spreadsheet
HGVS dbSNP
NM_001160227.1(SPG11):c.5175delA (p.Ala1726Glnfs) rs1060499768
NM_025137.3(SPG11):c.1108G>A (p.Glu370Lys) rs77697105
NM_025137.3(SPG11):c.1126A>G (p.Asn376Asp) rs199765540
NM_025137.3(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.3(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.3(SPG11):c.1347C>T (p.Thr449=) rs3759874
NM_025137.3(SPG11):c.1348A>G (p.Ile450Val) rs3759873
NM_025137.3(SPG11):c.1388T>C (p.Phe463Ser) rs3759871
NM_025137.3(SPG11):c.1550_1551delTT (p.Cys518Serfs) rs312262730
NM_025137.3(SPG11):c.1698T>G (p.Asp566Glu) rs79708848
NM_025137.3(SPG11):c.16G>A (p.Gly6Arg) rs200573434
NM_025137.3(SPG11):c.1735+3_1735+6delAAGT rs312262734
NM_025137.3(SPG11):c.176C>T (p.Ala59Val) rs552320263
NM_025137.3(SPG11):c.1801C>A (p.Pro601Thr) rs775799559
NM_025137.3(SPG11):c.1951C>T (p.Arg651Ter) rs199588440
NM_025137.3(SPG11):c.2083G>A (p.Ala695Thr) rs78183930
NM_025137.3(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.3(SPG11):c.2163dupT (p.Ile722Tyrfs) rs312262738
NM_025137.3(SPG11):c.2169C>T (p.Gly723=) rs371338650
NM_025137.3(SPG11):c.2198T>G (p.Leu733Ter) rs312262739
NM_025137.3(SPG11):c.2316+1G>A rs312262740
NM_025137.3(SPG11):c.2472_2473insT (p.Lys825Terfs) rs312262744
NM_025137.3(SPG11):c.257+13G>A rs201936649
NM_025137.3(SPG11):c.258-6delT rs373234269
NM_025137.3(SPG11):c.2621-8dupT rs577083743
NM_025137.3(SPG11):c.2656T>C (p.Tyr886His) rs139687202
NM_025137.3(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.3(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_025137.3(SPG11):c.3146-6T>G rs777849932
NM_025137.3(SPG11):c.3420G>A (p.Leu1140=) rs36014111
NM_025137.3(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.3(SPG11):c.395G>A (p.Ser132Asn) rs145132275
NM_025137.3(SPG11):c.4001+9G>T rs141177255
NM_025137.3(SPG11):c.4307_4308delAA (p.Gln1436Argfs) rs312262759
NM_025137.3(SPG11):c.442+1G>C rs312262715
NM_025137.3(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389
NM_025137.3(SPG11):c.4744-6T>C rs147550048
NM_025137.3(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842
NM_025137.3(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102
NM_025137.3(SPG11):c.5158C>T (p.Gln1720Ter) rs1060501173
NM_025137.3(SPG11):c.529_533delATATT (p.Ile177Serfs) rs312262716
NM_025137.3(SPG11):c.5410_5411delTG (p.Cys1804Profs) rs312262766
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.3(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767
NM_025137.3(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292
NM_025137.3(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464
NM_025137.3(SPG11):c.6010T>G (p.Leu2004Val) rs200220848
NM_025137.3(SPG11):c.60G>C (p.Ala20=) rs544136842
NM_025137.3(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025137.3(SPG11):c.6157G>A (p.Val2053Met) rs149003934
NM_025137.3(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.3(SPG11):c.6258G>T (p.Leu2086=) rs150761878
NM_025137.3(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_025137.3(SPG11):c.6330G>A (p.Gly2110=) rs35932349
NM_025137.3(SPG11):c.642delT (p.Phe214Leufs) rs312262717
NM_025137.3(SPG11):c.6451delG (p.Ala2151Profs) rs312262779
NM_025137.3(SPG11):c.6477+13delC rs574960359
NM_025137.3(SPG11):c.64A>G (p.Met22Val) rs34255962
NM_025137.3(SPG11):c.6632G>A (p.Arg2211His) rs144165094
NM_025137.3(SPG11):c.6737_6740delTTGA (p.Ile2246Serfs) rs312262781
NM_025137.3(SPG11):c.6739_6742delGAGT (p.Glu2247Leufs) rs312262782
NM_025137.3(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132
NM_025137.3(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785
NM_025137.3(SPG11):c.6877C>T (p.Arg2293Trp) rs151317653
NM_025137.3(SPG11):c.6892A>G (p.Ile2298Val) rs147962000
NM_025137.3(SPG11):c.6898_6899delCT (p.Leu2300Alafs) rs312262786
NM_025137.3(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506
NM_025137.3(SPG11):c.7023C>T (p.Tyr2341=) rs80338869
NM_025137.3(SPG11):c.7029dupT (p.Val2344Cysfs) rs312262788
NM_025137.3(SPG11):c.704_705delAT (p.His235Argfs) rs312262719
NM_025137.3(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167
NM_025137.3(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352
NM_025137.3(SPG11):c.7146C>T (p.Ser2382=) rs747227352
NM_025137.3(SPG11):c.7152-1G>C rs200079802
NM_025137.3(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_025137.3(SPG11):c.7161A>T (p.Gln2387His) rs201918221
NM_025137.3(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949
NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs) rs312262720
NM_025137.3(SPG11):c.808G>A (p.Val270Ile) rs80338868
NM_025137.3(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025137.3(SPG11):c.869+1G>A rs312262721
NM_025137.3(SPG11):c.993C>T (p.Ser331=) rs76823973
NM_025137.4(SPG11):c.3068dup (p.Glu1026Argfs) rs312262752
NM_025137.4(SPG11):c.3291+1G>T rs312262753

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