ClinVar Miner

Variants with conflicting interpretations studied for Brody myopathy

Coded as:
Minimum review status of the submission for Brody myopathy: Y axis 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 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
107 19 0 13 7 0 3 22

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 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 3 0 0 5 0
likely benign 0 0 2 0 4
benign 0 0 2 10 0

Condition to condition summary #

Total conditions: 3
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 specified 0 9 0 10 4 0 0 14
not provided 0 12 0 3 2 0 3 8
Brody myopathy 138 4 0 4 2 0 0 6

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_004320.5(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558
NM_004320.5(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388
NM_004320.5(ATP2A1):c.1184+1G>A rs551660089
NM_004320.5(ATP2A1):c.1329A>G (p.Thr443=) rs376915313
NM_004320.5(ATP2A1):c.1560C>T (p.Gly520=) rs138565447
NM_004320.5(ATP2A1):c.1614G>A (p.Thr538=) rs12596913
NM_004320.5(ATP2A1):c.1722G>A (p.Glu574=) rs145043756
NM_004320.5(ATP2A1):c.1764+6del rs66716803
NM_004320.5(ATP2A1):c.1809G>A (p.Pro603=) rs151309999
NM_004320.5(ATP2A1):c.1935C>T (p.Asn645=) rs754620899
NM_004320.5(ATP2A1):c.1948G>A (p.Asp650Asn) rs74573581
NM_004320.5(ATP2A1):c.1974C>T (p.Phe658=) rs61626938
NM_004320.5(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.5(ATP2A1):c.2524+3G>T rs2071341
NM_004320.5(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808
NM_004320.5(ATP2A1):c.2595del (p.Asn866fs) rs398124554
NM_004320.5(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304
NM_004320.5(ATP2A1):c.2774dup (p.Met925fs) rs398124555
NM_004320.5(ATP2A1):c.450C>T (p.Ile150=) rs781369773
NM_004320.5(ATP2A1):c.663C>G (p.Gly221=) rs113803159
NM_004320.5(ATP2A1):c.839A>G (p.Asn280Ser) rs143777158
NM_004320.5(ATP2A1):c.870C>T (p.Arg290=) rs201786788

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