ClinVar Miner

Variants in gene GDAP1 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
443 18 0 13 5 0 24 34

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 11 19 0 0
likely pathogenic 11 0 9 0 0
uncertain significance 19 9 0 3 2
likely benign 0 0 3 0 2
benign 0 0 2 2 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.*1489del rs34856543 0.04395
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_018972.4(GDAP1):c.-51_-49del rs201803887
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly) rs2131496131
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.558del (p.Ile186fs) rs770658701
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) rs397515443

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