ClinVar Miner

Variants with conflicting interpretations studied for Familial hemophagocytic lymphohistiocytosis 3

Coded as:
Minimum review status of the submission for Familial hemophagocytic lymphohistiocytosis 3: Collection method of the submission for Familial hemophagocytic lymphohistiocytosis 3:
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 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
1326 73 0 20 47 0 4 69

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
Familial hemophagocytic lymphohistiocytosis 3 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 3 0 0
likely pathogenic 10 0 2 0 0
uncertain significance 3 2 0 28 20
likely benign 0 0 28 0 10
benign 0 0 20 10 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Familial hemophagocytic lymphohistiocytosis 3 1326 73 0 20 47 0 4 69

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_199242.3(UNC13D):c.2298+15C>T rs112341334 0.00741
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_199242.3(UNC13D):c.2955-14G>C rs138462345 0.00196
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_199242.3(UNC13D):c.24G>A (p.Pro8=) rs143320460 0.00095
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00090
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_199242.3(UNC13D):c.1389+12G>A rs199536082 0.00070
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=) rs150861045 0.00070
NM_199242.3(UNC13D):c.858+12A>C rs191712530 0.00063
NM_199242.3(UNC13D):c.1174-15C>G rs374069629 0.00059
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00057
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_199242.3(UNC13D):c.2368-5C>T rs180768962 0.00045
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=) rs143184345 0.00034
NM_199242.3(UNC13D):c.444G>A (p.Gly148=) rs373551579 0.00034
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_199242.3(UNC13D):c.2830+7G>A rs201023196 0.00029
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_199242.3(UNC13D):c.2709+6G>T rs199529082 0.00014
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_199242.3(UNC13D):c.2553+12G>A rs560520169 0.00009
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=) rs372453702 0.00007
NM_199242.3(UNC13D):c.273G>A (p.Val91=) rs149494974 0.00007
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=) rs763343306 0.00004
NM_199242.3(UNC13D):c.2554-13A>G rs533490795 0.00004
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys) rs140599939 0.00004
NM_199242.3(UNC13D):c.569+10C>T rs368069154 0.00004
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=) rs753021453 0.00002
NM_199242.3(UNC13D):c.1055+1G>A rs754205110 0.00001
NM_199242.3(UNC13D):c.156G>T (p.Arg52=) rs111728477 0.00001
NM_199242.3(UNC13D):c.1727+1G>A rs754882266 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys) rs558726483 0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NM_199242.3(UNC13D):c.118-307G>A rs1019391145
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=) rs568125844
NM_199242.3(UNC13D):c.147C>G (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.147C>T (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.1728-13C>T rs745855631
NM_199242.3(UNC13D):c.1758C>T (p.His586=) rs759891490
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.2136C>G (p.Ile712Met) rs112245411
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NM_199242.3(UNC13D):c.2709+1G>A rs1555600214
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352

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.