ClinVar Miner

Variants in gene GAMT with conflicting interpretations

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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
121 27 2 8 12 0 1 21

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 2 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 11 3
likely benign 0 0 11 0 7
benign 0 0 3 7 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000156.6(GAMT):c.*11C>T rs149268921
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886
NM_000156.6(GAMT):c.312A>G (p.Pro104=) rs779679242
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln) rs148838075
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735
NM_000156.6(GAMT):c.328-10C>T rs371511930
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209
NM_000156.6(GAMT):c.392-7C>T rs192416474
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835
NM_000156.6(GAMT):c.471T>G (p.Phe157Leu) rs372260609
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.587C>T (p.Ala196Val) rs565109128
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734
NM_000156.6(GAMT):c.600C>T (p.Ala200=) rs200679529
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) rs753228876
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152

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