ClinVar Miner

Variants in gene ASL 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 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
106 11 2 16 5 0 6 28

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 2 8 3 0 0
likely pathogenic 8 0 3 0 0
uncertain significance 3 3 0 4 1
likely benign 0 0 4 0 8
benign 0 0 1 8 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000048.3(ASL):c.-31G>A rs766867890
NM_000048.3(ASL):c.-44+9G>A rs558890925
NM_000048.3(ASL):c.1026G>C (p.Val342=) rs768461888
NM_000048.3(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.3(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.3(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.3(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.3(ASL):c.1278C>T (p.Cys426=) rs140770112
NM_000048.3(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.3(ASL):c.183C>T (p.Asp61=) rs73374672
NM_000048.3(ASL):c.299T>C (p.Ile100Thr) rs202142867
NM_000048.3(ASL):c.309G>A (p.Thr103=) rs142448820
NM_000048.3(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.3(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.3(ASL):c.392C>T (p.Thr131Met) rs143793815
NM_000048.3(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000048.3(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000048.3(ASL):c.576G>A (p.Lys192=) rs115468878
NM_000048.3(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000048.3(ASL):c.602+13C>T rs12536292
NM_000048.3(ASL):c.656-5C>A rs201814807
NM_000048.3(ASL):c.718+14A>T rs117035302
NM_000048.3(ASL):c.718+5G>A rs869312990
NM_000048.3(ASL):c.839G>A (p.Gly280Glu) rs1085307952
NM_001024943.1(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_001024943.1(ASL):c.280C>T (p.Arg94Cys) rs374304304
NM_001024943.1(ASL):c.602+1G>A rs398123127
NM_001024943.1(ASL):c.918+5G>A rs781331391

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