ClinVar Miner

Variants in gene PYGL 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
127 24 6 5 4 0 7 20

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 6 1 7 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 7 0 0 4 0
likely benign 0 0 4 0 4
benign 0 0 0 4 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1620+1G>A rs113993981
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315
NM_002863.5(PYGL):c.1758G>A (p.Thr586=) rs755485474
NM_002863.5(PYGL):c.1768+1G>A rs113993982
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.2178-33dup rs11414268
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973
NM_002863.5(PYGL):c.424+6T>A rs146741789
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975

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