ClinVar Miner

Variants in gene GALE 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
314 14 0 12 15 2 7 30

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 other
pathogenic 0 7 4 2 1 0
likely pathogenic 7 0 2 0 0 0
uncertain significance 4 2 0 14 2 2
likely benign 2 0 14 0 5 1
benign 1 0 2 5 0 1
other 0 0 2 1 1 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_001008216.2(GALE):c.529-12C>T rs369293480 0.00169
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_001008216.2(GALE):c.873+13_873+14insA rs765063773 0.00050
NM_001008216.2(GALE):c.369G>A (p.Gly123=) rs138148991 0.00029
NM_001008216.2(GALE):c.423C>T (p.Tyr141=) rs138518245 0.00024
NM_001008216.2(GALE):c.447C>G (p.Pro149=) rs571625657 0.00017
NM_001008216.2(GALE):c.874-9G>A rs764448821 0.00004
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001008216.2(GALE):c.988+7G>A rs200182186 0.00003
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001008216.2(GALE):c.192G>A (p.Glu64=) rs748354696 0.00001
NM_001008216.2(GALE):c.238-6C>T rs751079525 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001008216.2(GALE):c.648G>A (p.Ala216=) rs144723215 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) rs28940883
NM_001008216.2(GALE):c.330C>T (p.Thr110=) rs377557637
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008216.2(GALE):c.450G>A (p.Thr150=) rs566884215
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.989-13C>T rs199622680

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