ClinVar Miner

Variants in gene ALG6 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
187 16 0 12 9 0 3 23

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

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_013339.4(ALG6):c.1127+8A>C
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304
NM_013339.4(ALG6):c.1452C>T (p.Phe484=) rs150298974
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049
NM_013339.4(ALG6):c.167+7T>C rs374146302
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.257+2dup rs745426479
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716
NM_013339.4(ALG6):c.648C>G (p.Gly216=)
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
NM_013339.4(ALG6):c.908_910del (p.Cys303del) rs1057517952
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833

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