ClinVar Miner

Variants in gene HLCS with conflicting interpretations

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 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
159 15 0 20 9 0 3 29

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
pathogenic 0 6 1 0 0
likely pathogenic 6 0 3 0 0
uncertain significance 1 3 0 8 3
likely benign 0 0 8 0 14
benign 0 0 3 14 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000411.6(HLCS):c.-254C>T rs149104163
NM_000411.6(HLCS):c.-257-10T>A rs181989786
NM_000411.6(HLCS):c.-373A>T rs191115811
NM_000411.6(HLCS):c.1179+7delT rs140568778
NM_000411.6(HLCS):c.1180-12T>C rs367728041
NM_000411.6(HLCS):c.1254C>T (p.Leu418=) rs138209330
NM_000411.6(HLCS):c.126G>T (p.Glu42Asp) rs61732504
NM_000411.6(HLCS):c.1528G>A (p.Gly510Arg) rs75867009
NM_000411.6(HLCS):c.1533dupT (p.Val512Cysfs) rs767533946
NM_000411.6(HLCS):c.1648G>A (p.Val550Met) rs119103231
NM_000411.6(HLCS):c.1672G>A (p.Glu558Lys) rs149736764
NM_000411.6(HLCS):c.2174G>A (p.Arg725Gln) rs147474255
NM_000411.6(HLCS):c.286G>A (p.Val96Ile) rs61732502
NM_000411.6(HLCS):c.424G>A (p.Val142Ile) rs149291867
NM_000411.6(HLCS):c.473C>T (p.Thr158Met) rs112176097
NM_000411.6(HLCS):c.53-17_53-16delTC rs146532042
NM_000411.6(HLCS):c.632C>T (p.Thr211Met) rs142524025
NM_000411.6(HLCS):c.647T>G (p.Leu216Arg) rs28934602
NM_000411.6(HLCS):c.710T>C (p.Leu237Pro) rs119103227
NM_000411.6(HLCS):c.834C>T (p.Ser278=) rs1065758
NM_000411.7(HLCS):c.-393+11G>T rs557368288
NM_000411.7(HLCS):c.1135C>T (p.Gln379Ter) rs1393866282
NM_000411.7(HLCS):c.1176G>A (p.Ala392=) rs111603166
NM_000411.7(HLCS):c.1519+5G>A rs753887925
NM_000411.7(HLCS):c.1680+1G>A rs1175936807
NM_000411.7(HLCS):c.1920C>T (p.Val640=) rs61732507
NM_000411.7(HLCS):c.1921G>A (p.Val641Met) rs150665851
NM_000411.7(HLCS):c.2142C>T (p.Phe714=) rs532108774
NM_001242785.2(HLCS):c.1711G>A (p.Asp571Asn) rs119103228

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