ClinVar Miner

Variants in gene MYO6 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
629 71 0 27 12 0 5 38

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 3 0 0
likely pathogenic 5 0 3 0 0
uncertain significance 3 3 0 12 4
likely benign 0 0 12 0 22
benign 0 0 4 22 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_004999.4(MYO6):c.2078-19T>C rs188730005 0.00105
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) rs148735953 0.00093
NM_004999.4(MYO6):c.2175A>G (p.Lys725=) rs116571790 0.00088
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_004999.4(MYO6):c.1546+6T>C rs199999513 0.00052
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) rs139174622 0.00024
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_004999.4(MYO6):c.262-12T>G rs368072756 0.00017
NM_004999.4(MYO6):c.2665A>G (p.Met889Val) rs727505098 0.00014
NM_004999.4(MYO6):c.553+10A>G rs188959117 0.00005
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter) rs766700803 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_004999.4(MYO6):c.*4113dup rs138193115
NM_004999.4(MYO6):c.*4423AATT[1] rs10547766
NM_004999.4(MYO6):c.1078+19dup rs144408691
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_004999.4(MYO6):c.1983+1G>A rs2149321922
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.3137+1G>A rs200713129
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp) rs876657911
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.