ClinVar Miner

Variants in gene HUWE1 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 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
247 18 0 23 9 0 2 31

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 4 1 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 1 1 0 6 6
likely benign 0 0 6 0 19
benign 0 0 6 19 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val) rs781928056
NM_031407.7(HUWE1):c.10278C>T (p.Leu3426=) rs146554767
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217
NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=) rs191407530
NM_031407.7(HUWE1):c.11625G>A (p.Ala3875=) rs782743763
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290
NM_031407.7(HUWE1):c.11910A>G (p.Leu3970=) rs150043212
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968
NM_031407.7(HUWE1):c.12650-6C>T rs374227391
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.1470A>G (p.Glu490=) rs145143264
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065
NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=) rs140959967
NM_031407.7(HUWE1):c.411C>G (p.Leu137=) rs138967897
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=) rs144449744
NM_031407.7(HUWE1):c.4983A>G (p.Gln1661=) rs376523271
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977
NM_031407.7(HUWE1):c.5716+5G>A rs139135300
NM_031407.7(HUWE1):c.6031-4T>A rs139283158
NM_031407.7(HUWE1):c.654T>C (p.Ser218=) rs148129382
NM_031407.7(HUWE1):c.8298A>G (p.Gln2766=) rs202214456
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595

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