ClinVar Miner

Variants with conflicting interpretations studied for Tyrosinemia type I

Coded as:
Minimum review status of the submission for Tyrosinemia type I: Y axis collection method of the submission for Tyrosinemia type I:
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
53 7 7 12 1 1 4 22

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
Tyrosinemia type I pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 7 7 1 0 0 1
likely pathogenic 6 0 2 0 0 0
uncertain significance 1 3 0 0 0 0
likely benign 0 0 0 0 1 0
benign 0 0 1 4 0 0
other 1 0 0 0 0 0

Condition to condition summary #

Total conditions: 5
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
Tyrosinemia type I 66 2 6 6 0 1 3 14
not provided 0 3 4 4 0 1 1 9
Hypertyrosinemia 0 1 0 4 1 0 0 5
Fumarylacetoacetase pseudodeficiency 0 0 1 0 0 1 0 1
not specified 0 8 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000137.3(FAH):c.1027G>T (p.Gly343Trp)
NM_000137.3(FAH):c.1062+5G>A rs80338901
NM_000137.3(FAH):c.1069G>T (p.Glu357Ter) rs121965075
NM_000137.3(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.3(FAH):c.1180+4A>G rs60585303
NM_000137.3(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000137.3(FAH):c.139A>G (p.Lys47Glu) rs34749737
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.267G>C (p.Leu89=) rs33929922
NM_000137.3(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.3(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.607-6T>G rs80338896
NM_000137.3(FAH):c.696C>T (p.Asn232=) rs533540262
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.786G>A (p.Trp262Ter) rs80338899
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000137.3(FAH):c.855G>A (p.Pro285=) rs73481171
NM_000137.3(FAH):c.921A>G (p.Gly307=) rs76338717

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