ClinVar Miner

Variants in gene ALS2 with conflicting interpretations

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
326 20 13 4 10 0 1 24

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 13 1 0 0 0
likely pathogenic 1 0 1 0 1
uncertain significance 0 1 0 8 4
likely benign 0 0 8 0 3
benign 0 1 4 3 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG rs387906316
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) rs386134175
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs) rs386134176
NM_020919.4(ALS2):c.1640+10A>G rs755148474
NM_020919.4(ALS2):c.1816-8C>T rs185911369
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) rs386134181
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) rs121908139
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) rs386134183
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=) rs181782027
NM_020919.4(ALS2):c.2912+8C>T rs528131651
NM_020919.4(ALS2):c.2980-2A>G rs386134184
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) rs121908137
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) rs386134187
NM_020919.4(ALS2):c.396G>A (p.Pro132=) rs374978798
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) rs200202953
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.4721del (p.Val1574fs) rs386134188
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174

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