ClinVar Miner

Variants with conflicting interpretations studied for Brody myopathy

Coded as:
Minimum review status of the submission for Brody myopathy: Collection method of the submission for Brody myopathy:
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 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
602 86 0 5 19 0 5 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.

All conditions
Brody myopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 4 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 4 1 0 15 4
likely benign 0 0 15 0 3
benign 0 0 4 3 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Brody myopathy 602 86 0 5 19 0 5 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.1764+6del rs66716803 0.06704
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388 0.00255
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350 0.00069
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=) rs138565447 0.00054
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His) rs150068594 0.00052
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808 0.00051
NM_004320.6(ATP2A1):c.1185-11C>T rs780795453 0.00032
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=) rs376915313 0.00020
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=) rs7192781 0.00017
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=) rs145043756 0.00015
NM_004320.6(ATP2A1):c.870C>T (p.Arg290=) rs201786788 0.00012
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp) rs117350233 0.00011
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met) rs200285714 0.00009
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=) rs754620899 0.00006
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=) rs199557273 0.00004
NM_004320.6(ATP2A1):c.220-11C>T rs369161791 0.00004
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=) rs200531611 0.00004
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=) rs773807881 0.00003
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=) rs757274362 0.00002
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=) rs749931257 0.00002
NM_004320.6(ATP2A1):c.1184+1G>A rs551660089 0.00001
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=) rs200596448 0.00001
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=) rs781369773 0.00001
NM_004320.6(ATP2A1):c.2284C>T (p.Arg762Cys) rs758893778
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys) rs538702357

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