ClinVar Miner

Variants in gene UNC13D 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
396 42 0 8 27 0 0 33

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.

uncertain significance likely benign benign
uncertain significance 0 18 11
likely benign 18 0 8
benign 11 8 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_199242.2(UNC13D):c.114G>A (p.Pro38=) rs755103812
NM_199242.2(UNC13D):c.1215C>T (p.Tyr405=) rs143184345
NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419
NM_199242.2(UNC13D):c.154-8T>A rs369433391
NM_199242.2(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116
NM_199242.2(UNC13D):c.175G>A (p.Ala59Thr) rs9904366
NM_199242.2(UNC13D):c.1890G>A (p.Ala630=) rs753021453
NM_199242.2(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910
NM_199242.2(UNC13D):c.2052C>G (p.Leu684=) rs150861045
NM_199242.2(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615
NM_199242.2(UNC13D):c.2241C>T (p.Ser747=) rs372453702
NM_199242.2(UNC13D):c.227C>T (p.Thr76Met) rs78028658
NM_199242.2(UNC13D):c.2341G>A (p.Val781Ile) rs149871493
NM_199242.2(UNC13D):c.2368-5C>T rs180768962
NM_199242.2(UNC13D):c.24G>A (p.Pro8=) rs143320460
NM_199242.2(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313
NM_199242.2(UNC13D):c.2553+5C>G rs201930023
NM_199242.2(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929
NM_199242.2(UNC13D):c.273G>A (p.Val91=) rs149494974
NM_199242.2(UNC13D):c.2830+7G>A rs201023196
NM_199242.2(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.2(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432
NM_199242.2(UNC13D):c.3033C>T (p.Ala1011=) rs144730861
NM_199242.2(UNC13D):c.3078C>T (p.Pro1026=) rs372034111
NM_199242.2(UNC13D):c.444G>A (p.Gly148=) rs373551579
NM_199242.2(UNC13D):c.610A>G (p.Met204Val) rs144722609
NM_199242.2(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.2(UNC13D):c.753+3G>A rs116229331
NM_199242.2(UNC13D):c.811C>T (p.Pro271Ser) rs139564938
NM_199242.2(UNC13D):c.847A>G (p.Ile283Val) rs61754871
NM_199242.2(UNC13D):c.972C>T (p.Asp324=) rs368990813
NM_199242.2(UNC13D):c.99G>A (p.Pro33=) rs147886860
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754

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