ClinVar Miner

Variants with conflicting interpretations studied for Amyotrophic Lateral Sclerosis, Dominant

Coded as:
Minimum review status of the submission for Amyotrophic Lateral Sclerosis, Dominant: Y axis collection method of the submission for Amyotrophic Lateral Sclerosis, Dominant:
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
110 292 0 56 12 0 2 66

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
Amyotrophic Lateral Sclerosis, Dominant pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 0 0 0 6 0
likely benign 2 1 6 0 49
benign 0 0 0 7 0

Condition to condition summary #

Total conditions: 15
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 25 0 39 5 0 0 44
not provided 0 15 0 17 5 0 1 21
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 0 5 0 12 1 0 0 13
Charcot-Marie-Tooth disease type 4 0 29 0 7 3 0 0 10
Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 0 0 0 5 0 0 0 5
Fanconi anemia 0 1 0 5 1 0 0 5
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 0 1 0 5 0 0 0 5
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 0 0 0 2 0 0 0 2
Amyotrophic lateral sclerosis type 1 0 0 0 1 1 0 1 2
Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease, type 4J 0 1 0 2 0 0 0 2
Amyotrophic lateral sclerosis 1, autosomal recessive 0 0 0 0 0 0 1 1
Amyotrophic lateral sclerosis type 10 0 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 0 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 8; Spinal muscular atrophy, late-onset, finkel type 0 2 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 9 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_000454.4(SOD1):c.-109A>G rs7277748
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000454.4(SOD1):c.423T>A (p.Ala141=) rs143100660
NM_001145.4(ANG):c.122A>T (p.Lys41Ile) rs121909536
NM_001145.4(ANG):c.250A>G (p.Lys84Glu) rs17560
NM_001145.4(ANG):c.330T>G (p.Gly110=) rs11701
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) rs17885240
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.640C>T (p.Arg214Cys) rs61757385
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004738.4(VAPB):c.574-4G>A rs201798741
NM_004960.3(FUS):c.*41G>A rs80301724
NM_004960.3(FUS):c.1156C>A (p.Arg386=) rs61733965
NM_004960.3(FUS):c.153C>T (p.Gly51=) rs61733962
NM_004960.3(FUS):c.190+9T>C rs73530283
NM_004960.3(FUS):c.524-5C>T rs73530287
NM_004960.3(FUS):c.684_686dupCGG (p.Gly231_Tyr232insGly) rs72550890
NM_007126.4(VCP):c.*4G>T rs201091341
NM_007126.4(VCP):c.1092C>T (p.Asp364=) rs61752947
NM_007126.4(VCP):c.1360-14C>G rs144304208
NM_007126.4(VCP):c.1704A>G (p.Gln568=) rs142577424
NM_007126.4(VCP):c.18-5T>C rs114256093
NM_007126.4(VCP):c.2214A>G (p.Glu738=) rs374391034
NM_007126.4(VCP):c.927C>T (p.Ile309=) rs34097935
NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) rs148325203
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) rs61730366
NM_013444.3(UBQLN2):c.1383G>A (p.Gly461=) rs142250604
NM_013444.3(UBQLN2):c.1461C>A (p.Thr487=) rs45559331
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_015046.5(SETX):c.1077T>C (p.Tyr359=) rs9411449
NM_015046.5(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.5(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.5(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.5(SETX):c.3147C>T (p.His1049=) rs3739921
NM_015046.5(SETX):c.3310C>G (p.Gln1104Glu) rs113831637
NM_015046.5(SETX):c.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.5(SETX):c.3576T>G (p.Asp1192Glu) rs1185193
NM_015046.5(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.5(SETX):c.4156A>G (p.Ile1386Val) rs543573
NM_015046.5(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.5(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.5(SETX):c.4755T>G (p.Pro1585=) rs151237267
NM_015046.5(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.5(SETX):c.5563A>G (p.Thr1855Ala) rs2296871
NM_015046.5(SETX):c.5811T>C (p.Asp1937=) rs2296869
NM_015046.5(SETX):c.59G>A (p.Arg20His) rs79740039
NM_015046.5(SETX):c.6106+14G>A rs73661157
NM_015046.5(SETX):c.6507G>A (p.Gly2169=) rs34073320
NM_015046.5(SETX):c.6935+8T>C rs17148873
NM_015046.5(SETX):c.7114G>A (p.Asp2372Asn) rs150673589
NM_015046.5(SETX):c.7371T>C (p.His2457=) rs113071480
NM_015046.5(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.5(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015046.5(SETX):c.7759A>G (p.Ile2587Val) rs1056899

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