ClinVar Miner

Variants in gene GALNS with conflicting interpretations

See also:
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
240 33 2 10 8 0 1 21

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 3 0 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 0 1 0 5 3
likely benign 0 0 5 0 7
benign 0 0 3 7 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000512.5(GALNS):c.1002+17C>T rs78494153
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
NM_000512.5(GALNS):c.633+22T>C rs201579340
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446

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