ClinVar Miner

Variants with conflicting interpretations studied for Dystonia

Coded as:
Minimum review status of the submission for Dystonia: Y axis collection method of the submission for Dystonia:
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
173 86 1 36 21 1 1 54

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
Dystonia pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 1 2 0 0 0 0
likely pathogenic 2 0 1 0 0 0
uncertain significance 0 0 0 4 2 0
likely benign 0 0 11 0 16 1
benign 0 0 5 16 0 0

Condition to condition summary #

Total conditions: 17
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
not specified 0 24 0 16 8 0 0 23
Segawa syndrome, autosomal recessive 0 4 1 12 7 0 0 19
GLUT1 deficiency syndrome 1, autosomal recessive 0 7 0 6 2 0 0 8
Leukodystrophy, hypomyelinating, 6 0 20 0 5 0 0 0 5
not provided 0 12 0 0 5 0 0 5
Nonsyndromic Hearing Loss, Recessive 0 0 0 4 0 0 0 4
History of neurodevelopmental disorder 0 8 0 3 0 0 0 3
Maturity onset diabetes mellitus in young 0 0 0 3 0 0 0 3
Transient Neonatal Diabetes, Dominant/Recessive 0 0 0 3 0 0 0 3
Dystonia 1 0 0 0 2 0 0 0 2
GLUT1 deficiency syndrome 1 0 3 0 0 2 0 0 2
Dystonia 16 0 0 0 1 0 0 0 1
Dystonia 24 0 1 0 1 0 0 0 1
Dystonia 6, torsion 0 0 0 1 0 0 0 1
Dystonia, dopa-responsive 0 0 0 0 1 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1 1
cocaine response - Toxicity/ADR 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_000113.2(TOR1A):c.26G>C (p.Gly9Ala) rs200493208
NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000360.3(TH):c.1035G>T (p.Ala345=) rs11826260
NM_000360.3(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.3(TH):c.1278G>A (p.Thr426=) rs36097848
NM_000360.3(TH):c.1368C>T (p.Ser456=) rs45538536
NM_000360.3(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000360.3(TH):c.252G>A (p.Leu84=) rs758016812
NM_000360.3(TH):c.313-9C>T rs538345855
NM_000360.3(TH):c.363G>A (p.Pro121=) rs370429316
NM_000360.3(TH):c.897C>T (p.Phe299=) rs76719766
NM_000795.3(DRD2):c.423G>A (p.Leu141=) rs1800499
NM_000795.3(DRD2):c.811-83G>T rs1076560
NM_000795.3(DRD2):c.928C>T (p.Pro310Ser) rs1800496
NM_003124.4(SPR):c.112G>A (p.Val38Ile) rs146099322
NM_003124.4(SPR):c.369C>T (p.Tyr123=) rs146349901
NM_003124.4(SPR):c.628C>T (p.Arg210Trp) rs200845457
NM_003690.4(PRKRA):c.-24G>A rs62176113
NM_003690.4(PRKRA):c.1A>C (p.Met1Leu) rs9406386
NM_003690.4(PRKRA):c.22_23delGC (p.Ala8Argfs) rs141354030
NM_003690.4(PRKRA):c.32C>T (p.Pro11Leu) rs62176112
NM_003690.4(PRKRA):c.610-11_610-10delCT rs138320145
NM_006087.3(TUBB4A):c.1287G>A (p.Thr429=) rs61731566
NM_006087.3(TUBB4A):c.189G>A (p.Ala63=) rs150812047
NM_006087.3(TUBB4A):c.906G>A (p.Ala302=) rs144969662
NM_006087.3(TUBB4A):c.915G>A (p.Pro305=) rs149903666
NM_006087.3(TUBB4A):c.921C>T (p.His307=) rs118102196
NM_006516.2(SLC2A1):c.-26G>C rs375001117
NM_006516.2(SLC2A1):c.18+12G>T rs587781171
NM_006516.2(SLC2A1):c.972+7delC rs531385270
NM_006516.3(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554
NM_006516.3(SLC2A1):c.1170C>T (p.Ile390=) rs2236574
NM_006516.3(SLC2A1):c.1372C>A (p.Arg458=) rs13306758
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006516.3(SLC2A1):c.274C>A (p.Arg92=) rs202060209
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402
NM_006516.3(SLC2A1):c.313G>A (p.Val105Met) rs577667739
NM_006516.3(SLC2A1):c.417C>T (p.Phe139=) rs144538918
NM_006516.3(SLC2A1):c.679+7G>T rs13306757
NM_006516.3(SLC2A1):c.680-10G>T rs587784394
NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) rs78388808
NM_018105.2(THAP1):c.71+9C>A rs200209986
NM_031418.3(ANO3):c.1968C>T (p.Ile656=) rs149050831
NM_199292.2(TH):c.1234C>A (p.Gln412Lys) rs121917762
NM_199292.2(TH):c.1293+9C>T rs11564717
NM_199292.2(TH):c.1481C>T (p.Thr494Met) rs45471299
NM_199292.2(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_199292.2(TH):c.279G>A (p.Ser93=) rs34510659
NM_199292.2(TH):c.303T>C (p.Ala101=) rs7950050
NM_199292.2(TH):c.360G>A (p.Arg120=) rs76240471
NM_199292.2(TH):c.698G>A (p.Arg233His) rs80338892
NM_199292.2(TH):c.707T>C (p.Leu236Pro) rs121917763
NM_199292.2(TH):c.777G>A (p.Glu259=) rs11564716

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