ClinVar Miner

Variants in gene PYGL 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
256 42 0 13 15 0 2 29

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 5 2 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 2 0 0 13 3
likely benign 0 0 13 0 8
benign 0 0 3 8 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563 0.00878
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932 0.00108
NM_002863.5(PYGL):c.147C>T (p.Thr49=) rs139338050 0.00044
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) rs140296036 0.00041
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) rs144989341 0.00029
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112 0.00020
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315 0.00010
NM_002863.5(PYGL):c.1617G>A (p.Lys539=) rs17721570 0.00006
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_002863.5(PYGL):c.1758G>A (p.Thr586=) rs755485474 0.00006
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397 0.00006
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108 0.00005
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_002863.5(PYGL):c.1519-15C>A rs372886463 0.00004
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) rs760187622 0.00004
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_002863.5(PYGL):c.1768+10C>T rs780893472
NM_002863.5(PYGL):c.1970-7C>G
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.2178-33dup rs11414268
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)

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