ClinVar Miner

Variants in gene GALK1 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
116 11 0 9 13 0 3 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 0 5 2 1 0
likely pathogenic 5 0 1 0 0
uncertain significance 2 1 0 10 3
likely benign 1 0 10 0 4
benign 0 0 3 4 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.611+9C>T rs370204015
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171

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