ClinVar Miner

Variants in gene ALS2 with conflicting interpretations

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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
901 38 13 20 14 0 4 44

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 6 2 0 0
likely pathogenic 6 0 2 0 0
uncertain significance 2 2 0 14 5
likely benign 0 0 14 0 14
benign 0 0 5 14 0

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.2841+48del rs141560438 0.03404
NM_020919.4(ALS2):c.*105A>C rs141509107 0.00995
NM_020919.4(ALS2):c.4581-7A>G rs114458388 0.00827
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363 0.00184
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) rs41308840 0.00099
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) rs200202953 0.00056
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) rs367640165 0.00026
NM_020919.4(ALS2):c.1578A>G (p.Thr526=) rs147284131 0.00016
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00010
NM_020919.4(ALS2):c.-60-2A>G rs532217889 0.00006
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) rs765049503 0.00004
NM_020919.4(ALS2):c.1640+10A>G rs755148474 0.00001
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) rs386134181 0.00001
NM_020919.4(ALS2):c.2171-7G>A rs376270303 0.00001
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro) rs1355321952 0.00001
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) rs121908137 0.00001
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu) rs778003334 0.00001
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG rs387906316
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) rs386134175
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
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+1G>A rs2106074229
NM_020919.4(ALS2):c.1816-10G>T rs191447972
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) rs121908139
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) rs773628251
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) rs386134183
NM_020919.4(ALS2):c.2980-2A>G rs386134184
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) rs386134187
NM_020919.4(ALS2):c.3703-2A>G rs1690532210
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.4721del (p.Val1574fs) rs386134188
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) rs1689578912
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174

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