ClinVar Miner

Variants in gene SACS 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
1244 114 0 68 78 0 7 132

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
pathogenic 0 17 4 2 1
likely pathogenic 17 0 4 0 1
uncertain significance 4 4 0 61 28
likely benign 2 0 61 0 51
benign 1 1 28 51 0

All variants with conflicting interpretations #

Total variants: 132
Download table as spreadsheet
HGVS dbSNP
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.171+6C>T rs3751368
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528

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