ClinVar Miner

Variants in gene MEGF10 with conflicting interpretations

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
919 41 0 13 42 0 2 51

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 0 2 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 2 1 0 24 18
likely benign 0 0 24 0 13
benign 0 0 18 13 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256545.2(MEGF10):c.3162G>A (p.Pro1054=) rs17164938 0.03315
NM_001256545.2(MEGF10):c.2199C>T (p.Cys733=) rs35591368 0.02614
NM_001256545.2(MEGF10):c.2076C>T (p.Pro692=) rs115309591 0.01810
NM_001256545.2(MEGF10):c.984C>T (p.Asn328=) rs35550094 0.01638
NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=) rs56157640 0.01628
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=) rs113794264 0.00845
NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His) rs78847357 0.00577
NM_001256545.2(MEGF10):c.489C>T (p.Ile163=) rs34649270 0.00577
NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=) rs36061366 0.00492
NM_001256545.2(MEGF10):c.303C>T (p.Ser101=) rs77203884 0.00260
NM_001256545.2(MEGF10):c.218+17C>G rs72786483 0.00257
NM_001256545.2(MEGF10):c.1002C>T (p.His334=) rs142947482 0.00254
NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=) rs146075981 0.00243
NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=) rs139929890 0.00229
NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu) rs116500162 0.00227
NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=) rs35159176 0.00207
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg) rs140563851 0.00178
NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser) rs75783175 0.00171
NM_001256545.2(MEGF10):c.2034C>T (p.Asn678=) rs117124929 0.00145
NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=) rs146902993 0.00129
NM_001256545.2(MEGF10):c.2857-8T>G rs201148765 0.00117
NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=) rs114704569 0.00116
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820 0.00098
NM_001256545.2(MEGF10):c.117-5_117-4insC rs538399152 0.00081
NM_001256545.2(MEGF10):c.1975+10G>A rs148814585 0.00080
NM_001256545.2(MEGF10):c.1130+3G>A rs115184652 0.00076
NM_001256545.2(MEGF10):c.1841-5T>C rs372378202 0.00032
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) rs145733370 0.00023
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr) rs139884665 0.00016
NM_001256545.2(MEGF10):c.2980+14A>G rs370563737 0.00014
NM_001256545.2(MEGF10):c.2157T>C (p.His719=) rs374544972 0.00009
NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=) rs151316424 0.00009
NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=) rs370850456 0.00009
NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=) rs371253627 0.00009
NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=) rs558369303 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001256545.2(MEGF10):c.417C>T (p.Cys139=) rs148349018 0.00006
NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=) rs751813170 0.00005
NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=) rs144450528 0.00005
NM_001256545.2(MEGF10):c.522G>A (p.Arg174=) rs201076330 0.00005
NM_001256545.2(MEGF10):c.1800C>T (p.Cys600=) rs528654275 0.00004
NM_001256545.2(MEGF10):c.781-15T>C rs767842462 0.00003
NM_001256545.2(MEGF10):c.2919G>A (p.Val973=) rs770936974 0.00002
NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=) rs145815113 0.00001
NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=) rs781762135 0.00001
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter) rs989552169 0.00001
NM_001256545.2(MEGF10):c.789G>A (p.Val263=) rs1188804374 0.00001
NM_001256545.2(MEGF10):c.951C>T (p.Gly317=) rs145870973 0.00001
NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu) rs182243856
NM_001256545.2(MEGF10):c.3215_3216delinsAC (p.Arg1072Asn) rs386692223
NM_001256545.2(MEGF10):c.954T>C (p.Val318=) rs1580833127

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.