ClinVar Miner

Variants with conflicting interpretations studied for Glycogen storage disease, type IV

Coded as:
Minimum review status of the submission for Glycogen storage disease, type IV: Y axis collection method of the submission for Glycogen storage disease, type IV:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
4 31 13 7 2 0 4 23

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.

All conditions
Glycogen storage disease, type IV pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 13 2 3 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 2 0 0 2 0
likely benign 0 0 0 0 5

Condition to condition summary #

Total conditions: 15
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not provided 0 7 3 4 0 0 1 8
not specified 0 4 0 5 2 0 0 7
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 0 3 1 4 0 0 0 5
Glycogen storage disease IV, congenital neuromuscular 0 0 4 0 0 0 0 4
Adult polyglucosan body neuropathy 0 0 3 1 0 0 0 3
Glycogen storage disease IV, classic hepatic 0 0 3 0 0 0 0 3
Glycogen storage disease, type IV 51 4 0 2 0 0 1 3
Glycogen storage disease IV, childhood neuromuscular 0 0 2 0 0 0 1 2
Glycogen storage disease IV, fatal perinatal neuromuscular 0 0 2 0 0 0 0 2
Glycogen storage disease IV, nonprogressive hepatic 0 0 2 1 0 0 0 2
Inborn genetic diseases 0 0 1 0 0 0 1 2
GBE1-Related Disorders 0 1 1 0 0 0 0 1
Glycogen storage disease IV, combined hepatic and myopathic 0 0 1 0 0 0 0 1
Polyglucosan body disease, adult 0 32 0 0 0 0 1 1
Polyglucosan body disease, adult; Glycogen storage disease, type IV 0 3 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000158.3(GBE1):c.993-?_1618+?del
NM_000158.4(GBE1):c.1237-15C>T rs376809475
NM_000158.4(GBE1):c.143+10G>T rs9820490
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) rs137852890
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545

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