ClinVar Miner

Variants with conflicting interpretations studied for Familial hemophagocytic lymphohistiocytosis

Coded as:
Minimum review status of the submission for Familial hemophagocytic lymphohistiocytosis: Y axis collection method of the submission for Familial hemophagocytic lymphohistiocytosis:
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
151 27 0 17 20 0 2 36

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 pathogenic uncertain significance likely benign benign
uncertain significance 0 0 11 13
likely benign 2 1 0 17
benign 0 1 0 0

Condition to condition summary #

Total conditions: 9
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 11 0 15 12 0 0 27
Hemophagocytic lymphohistiocytosis, familial, 3 0 12 0 5 8 0 0 13
Hemophagocytic lymphohistiocytosis, familial, 5 0 4 0 3 3 0 0 6
not provided 0 2 0 3 1 0 1 4
Hemophagocytic lymphohistiocytosis, familial, 2 0 4 0 1 2 0 0 3
Hemophagocytic lymphohistiocytosis, familial, 4 0 5 0 2 1 0 0 3
Aplastic anemia 0 0 0 0 0 0 1 1
Familial hemophagocytic lymphohistiocytosis 213 0 0 0 1 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083116.3(PRF1):c.462A>G (p.Ala154=) rs116554195
NM_001083116.3(PRF1):c.630C>T (p.Pro210=) rs144004164
NM_001083116.3(PRF1):c.822C>T (p.Ala274=) rs885821
NM_003764.4(STX11):c.*1221dup rs397725572
NM_003764.4(STX11):c.146G>A (p.Arg49Gln) rs17073498
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718
NM_003764.4(STX11):c.829A>G (p.Thr277Ala) rs9496891
NM_006949.4(STXBP2):c.*12G>A rs28464386
NM_006949.4(STXBP2):c.1247-10C>T rs61407177
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592
NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419
NM_199242.2(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116
NM_199242.2(UNC13D):c.1744C>T (p.Leu582=) rs75853379
NM_199242.2(UNC13D):c.1977C>T (p.Thr659=) rs2290770
NM_199242.2(UNC13D):c.1992+5G>A rs17581728
NM_199242.2(UNC13D):c.2052C>G (p.Leu684=) rs150861045
NM_199242.2(UNC13D):c.2298+15C>T rs112341334
NM_199242.2(UNC13D):c.2341G>A (p.Val781Ile) rs149871493
NM_199242.2(UNC13D):c.24G>A (p.Pro8=) rs143320460
NM_199242.2(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984
NM_199242.2(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199242.2(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.2(UNC13D):c.2943G>A (p.Glu981=) rs35628234
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.3252T>C (p.His1084=) rs61753922
NM_199242.2(UNC13D):c.444G>A (p.Gly148=) rs373551579
NM_199242.2(UNC13D):c.904C>T (p.Leu302Phe) rs55661958
NM_199242.2(UNC13D):c.951+13T>G rs140758914
NM_199242.2(UNC13D):c.99G>A (p.Pro33=) rs147886860

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