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 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
124 21 6 15 12 1 6 35

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 6 13 2 1 1 1
likely pathogenic 13 0 4 0 0 0
uncertain significance 2 4 0 10 2 0
likely benign 1 0 10 0 2 1
benign 1 0 2 2 0 1
other 1 0 0 1 1 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
Tyrosinemia type I 124 21 6 15 12 1 6 35

All variants with conflicting interpretations #

Total variants: 35
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>A (p.Gly343Arg) rs970505762
NM_000137.3(FAH):c.1141A>G (p.Arg381Gly) rs121965077
NM_000137.3(FAH):c.1205G>A (p.Arg402His) rs147796599
NM_000137.3(FAH):c.150T>C (p.Phe50=) rs186471906
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.1A>G (p.Met1Val) rs1057517972
NM_000137.3(FAH):c.243G>A (p.Ala81=) rs36122289
NM_000137.3(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.3(FAH):c.398A>T (p.His133Leu) rs775152764
NM_000137.3(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.3(FAH):c.455+9T>C rs531129429
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.553+10C>T rs201051426
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.565G>A (p.Val189Ile) rs145389125
NM_000137.3(FAH):c.607-6T>G rs80338896
NM_000137.3(FAH):c.648C>A (p.Ile216=) rs147016995
NM_000137.3(FAH):c.696C>T (p.Asn232=) rs533540262
NM_000137.3(FAH):c.706+2T>G rs1555441597
NM_000137.3(FAH):c.707-7_707-5del rs779284513
NM_000137.3(FAH):c.747A>G (p.Pro249=) rs138757552
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.974C>T (p.Thr325Met) rs770713168
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) rs1567118987
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627

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