ClinVar Miner

Variants in gene OPA1 with conflicting interpretations

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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
365 43 2 17 12 1 4 27

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 drug response protective other
pathogenic 2 5 2 2 1 1 1 1
likely pathogenic 4 0 3 1 0 0 0 0
uncertain significance 1 3 0 11 6 0 0 0
likely benign 1 1 11 0 12 0 0 0
benign 0 0 6 12 0 0 0 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_015560.2(OPA1):c.1137T>G (p.Pro379=) rs139861334
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1212+10T>C rs200114656
NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) rs1553877946
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
NM_015560.2(OPA1):c.1923G>A (p.Ala641=) rs138114609
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2276-4dup rs761286590
NM_015560.2(OPA1):c.2355+13A>G rs371943802
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2715A>G (p.Arg905=) rs144898877
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.2826del (p.Arg943fs) rs80356531
NM_015560.2(OPA1):c.557-668G>A rs983041061
NM_015560.2(OPA1):c.625-4T>A rs374509936
NM_015560.2(OPA1):c.625-5451G>A rs143918255
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438
NM_015560.2(OPA1):c.756C>T (p.Asp252=) rs147242797
NM_015560.2(OPA1):c.85C>G (p.Pro29Ala) rs145565705
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
Single allele

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