ClinVar Miner

Variants in gene combination GALK1, ITGB4 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
418 25 0 12 6 0 1 18

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 0 1 0
uncertain significance 0 0 6 1
likely benign 1 6 0 12
benign 0 1 12 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.3976+15G>C rs2603499 0.02476
NM_000213.5(ITGB4):c.5053+14C>T rs78884789 0.00949
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln) rs80224547 0.00477
NM_000213.5(ITGB4):c.5367C>T (p.Gly1789=) rs200199740 0.00332
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00269
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=) rs3191773 0.00241
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=) rs145351926 0.00213
NM_000213.5(ITGB4):c.4489C>T (p.Arg1497Cys) rs148205043 0.00141
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His) rs151053969 0.00069
NM_000213.5(ITGB4):c.5219-3C>T rs200010813 0.00044
NM_000213.5(ITGB4):c.5301C>T (p.His1767=) rs963564866 0.00002
NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)
NM_000213.5(ITGB4):c.3977-30_3977-17del rs1064795468
NM_000213.5(ITGB4):c.4709-8C>A rs371797130
NM_000213.5(ITGB4):c.4902C>G (p.Ser1634=) rs57812564
NM_000213.5(ITGB4):c.5055G>A (p.Gly1685=) rs148658410
NM_000213.5(ITGB4):c.5219-15A>G rs142184100

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