ClinVar Miner

Variants with conflicting interpretations studied for Combined oxidative phosphorylation deficiency

Coded as:
Minimum review status of the submission for Combined oxidative phosphorylation deficiency: Y axis collection method of the submission for Combined oxidative phosphorylation deficiency:
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
254 23 0 22 36 0 3 61

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
Combined oxidative phosphorylation deficiency likely pathogenic likely benign benign
uncertain significance 3 24 16
likely benign 0 0 22

Condition to condition summary #

Total conditions: 4
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 6 0 20 34 0 0 54
not provided 0 27 0 5 6 0 1 12
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 0 3 0 3 1 0 0 4
Combined oxidative phosphorylation deficiency 8 0 0 0 0 0 0 2 2

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP
NM_001083614.1(EARS2):c.1317G>A (p.Ser439=) rs74014932
NM_001083614.1(EARS2):c.280A>G (p.Met94Val) rs200139797
NM_001083614.1(EARS2):c.667G>A (p.Asp223Asn) rs746087016
NM_001172696.1(TSFM):c.361-12T>G rs368313488
NM_001172696.1(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_001172696.1(TSFM):c.69T>A (p.Leu23=) rs147317818
NM_001172696.1(TSFM):c.817G>A (p.Val273Ile) rs114694283
NM_001172696.1(TSFM):c.859C>A (p.Leu287Ile) rs62000432
NM_003321.4(TUFM):c.198C>T (p.Ile66=) rs11542257
NM_003321.4(TUFM):c.519+15G>A rs758912548
NM_003321.4(TUFM):c.520-13C>G rs115691896
NM_003321.4(TUFM):c.684+8C>T rs117782882
NM_003321.4(TUFM):c.759C>T (p.Pro253=) rs185379779
NM_004208.3(AIFM1):c.103C>T (p.Pro35Ser) rs61730896
NM_004208.3(AIFM1):c.1047C>T (p.Ser349=) rs781350745
NM_004208.3(AIFM1):c.1329C>T (p.Tyr443=) rs143792929
NM_004208.3(AIFM1):c.366A>G (p.Glu122=) rs756883753
NM_004208.3(AIFM1):c.606-15C>T rs191297808
NM_004208.3(AIFM1):c.72C>T (p.Cys24=) rs373609902
NM_016065.3(MRPS16):c.-8G>C rs2271909
NM_016065.3(MRPS16):c.112C>A (p.His38Asn) rs116157972
NM_016065.3(MRPS16):c.14-12G>A rs11594611
NM_016065.3(MRPS16):c.34T>C (p.Tyr12His) rs7905009
NM_016065.3(MRPS16):c.389C>G (p.Thr130Arg) rs117510230
NM_016065.3(MRPS16):c.63T>C (p.Leu21=) rs376338190
NM_020191.2(MRPS22):c.283A>C (p.Ile95Leu) rs73866065
NM_020191.2(MRPS22):c.340-14T>A rs377459479
NM_020191.2(MRPS22):c.90G>A (p.Gln30=) rs772766573
NM_020191.2(MRPS22):c.987+15delT rs372892045
NM_020745.3(AARS2):c.*9C>T rs772455600
NM_020745.3(AARS2):c.1189-16_1189-14delTCT rs144914586
NM_020745.3(AARS2):c.1192G>A (p.Ala398Thr) rs202171981
NM_020745.3(AARS2):c.1196A>G (p.Asn399Ser) rs113433939
NM_020745.3(AARS2):c.1534G>C (p.Asp512His) rs146512155
NM_020745.3(AARS2):c.1752G>A (p.Glu584=) rs78525157
NM_020745.3(AARS2):c.1753-13T>C rs80339975
NM_020745.3(AARS2):c.2007+8C>T rs150125794
NM_020745.3(AARS2):c.2188G>A (p.Val730Met) rs35623954
NM_020745.3(AARS2):c.2426T>A (p.Leu809Gln) rs35967387
NM_020745.3(AARS2):c.2440G>A (p.Val814Met) rs111325758
NM_020745.3(AARS2):c.2548A>G (p.Met850Val) rs35783144
NM_020745.3(AARS2):c.268G>C (p.Val90Leu) rs863223860
NM_020745.3(AARS2):c.420G>A (p.Gly140=) rs75506489
NM_020745.3(AARS2):c.861C>A (p.Asp287Glu) rs115815965
NM_020745.3(AARS2):c.985C>T (p.Arg329Cys) rs200187887
NM_024996.5(GFM1):c.-11C>T rs112860155
NM_024996.5(GFM1):c.-31A>G rs28372853
NM_024996.5(GFM1):c.-38C>T rs377352238
NM_024996.5(GFM1):c.1032C>T (p.Asn344=) rs373952002
NM_024996.5(GFM1):c.1083+6T>G rs142919829
NM_024996.5(GFM1):c.127A>G (p.Asn43Asp) rs35942089
NM_024996.5(GFM1):c.1324-15T>A rs375168014
NM_024996.5(GFM1):c.1601+9G>C rs77186707
NM_024996.5(GFM1):c.1990G>A (p.Val664Ile) rs62288347
NM_024996.5(GFM1):c.2190C>T (p.Asp730=) rs149049400
NM_024996.5(GFM1):c.235-14G>A rs201304690
NM_024996.5(GFM1):c.476A>G (p.Asn159Ser) rs34297061
NM_024996.5(GFM1):c.568A>C (p.Met190Leu) rs75450876
NM_024996.5(GFM1):c.77A>G (p.Lys26Arg) rs574200635
NM_024996.5(GFM1):c.960A>C (p.Pro320=) rs145970222
NM_152269.4(C12orf65):c.273C>T (p.Ile91=) rs2280424

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