ClinVar Miner

Variants in gene UNC80 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
189 7 0 13 3 0 1 17

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 8 0 0 0
likely pathogenic 8 0 1 0 0
uncertain significance 0 1 0 2 1
likely benign 0 0 2 0 5
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_001371986.1(UNC80):c.765T>C (p.Cys255=) rs145935313
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631
NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479
NM_032504.1(UNC80):c.1653_1654dup (p.Asp552fs) rs1553527439
NM_032504.1(UNC80):c.1806G>C (p.Gln602His) rs200473652
NM_032504.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_032504.1(UNC80):c.3256+3A>G rs144170692
NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) rs864321622
NM_032504.1(UNC80):c.404C>T (p.Thr135Ile) rs146163378
NM_032504.1(UNC80):c.4147C>G (p.Pro1383Ala) rs192242889
NM_032504.1(UNC80):c.5098C>T (p.Pro1700Ser) rs869025316
NM_032504.1(UNC80):c.7607G>C (p.Arg2536Thr) rs869025317
NM_032504.1(UNC80):c.7757T>A (p.Leu2586Ter) rs869025319
NM_032504.1(UNC80):c.8058+2T>G rs1575179679
NM_032504.1(UNC80):c.8330C>T (p.Ala2777Val) rs199561408
NM_032504.1(UNC80):c.9305C>T (p.Pro3102Leu) rs61271372
NM_032504.1(UNC80):c.9554C>G (p.Thr3185Arg) rs59504201

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