ClinVar Miner

Variants with conflicting interpretations studied for Distal spinal muscular atrophy

Coded as:
Minimum review status of the submission for Distal spinal muscular atrophy: Y axis collection method of the submission for Distal spinal muscular atrophy:
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
59 48 0 21 29 0 2 52

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
Distal spinal muscular atrophy pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 2 2 0 21 8
likely benign 0 0 4 0 20
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 12
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 20 0 17 18 0 0 35
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 0 8 0 7 19 0 0 26
not provided 0 16 0 9 5 0 2 16
Charcot-Marie-Tooth disease, type 2 0 42 0 7 3 0 0 10
Inborn genetic diseases 0 0 0 0 0 0 2 2
Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, axonal, type 2S 0 0 0 0 0 0 1 1
Dysarthria; Gait ataxia; Cerebral cortical atrophy; Spastic paraparesis 0 0 0 0 0 0 1 1
Hereditary spastic paraplegia 0 0 0 0 0 0 1 1
Seizures; Memory impairment; Gait ataxia; Spastic paraplegia 0 0 0 0 0 0 1 1
Spastic paraplegia 7 0 0 0 0 0 0 1 1
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_002047.2(GARS):c.302G>A (p.Arg101His) rs200887429
NM_002047.2(GARS):c.882-15T>G rs199741850
NM_002047.3(GARS):c.1031+14T>G rs189589556
NM_002047.3(GARS):c.1100A>G (p.Asn367Ser) rs192443850
NM_002047.3(GARS):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.3(GARS):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.3(GARS):c.1420C>A (p.Arg474=) rs113958280
NM_002047.3(GARS):c.1716G>A (p.Pro572=) rs370608239
NM_002047.3(GARS):c.1761G>A (p.Thr587=) rs3886641
NM_002047.3(GARS):c.1962C>T (p.Ile654=) rs201927627
NM_002047.3(GARS):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.3(GARS):c.270C>T (p.Asp90=) rs369898799
NM_002047.3(GARS):c.699C>T (p.Val233=) rs187937286
NM_002047.3(GARS):c.747T>C (p.Tyr249=) rs7808770
NM_002047.3(GARS):c.764C>T (p.Ala255Val) rs765478968
NM_002047.3(GARS):c.765G>A (p.Ala255=) rs201447520
NM_002047.3(GARS):c.803C>T (p.Thr268Ile) rs2230310
NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs) rs724159994
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_020631.4(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.4(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.4(PLEKHG5):c.2163_2168dupGGAGGA (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.4(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.4(PLEKHG5):c.2166_2168delGGA (p.Glu723del) rs113541584
NM_020631.4(PLEKHG5):c.2166_2168dupGGA (p.Glu723_Gly724insGlu) rs113541584
NM_020631.4(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150
NM_020631.4(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272
NM_020631.4(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443
NM_020631.4(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876
NM_020631.4(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.4(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.4(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.4(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.4(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.4(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.4(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639
NM_020631.4(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.4(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.4(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.4(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.4(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.4(PLEKHG5):c.439+12C>G rs778853521
NM_020631.4(PLEKHG5):c.440-10C>T rs201656051
NM_020631.4(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.4(PLEKHG5):c.495G>A (p.Lys165=) rs150772386
NM_020631.4(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.4(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.4(PLEKHG5):c.795+8G>A rs114275646
NM_020631.4(PLEKHG5):c.882C>T (p.Phe294=) rs370572859
NM_020631.4(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.4(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020631.4(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399

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