ClinVar Miner

Variants in gene ABCG8 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 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
208 15 0 4 14 0 0 17

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 12 3
likely benign 0 0 12 0 3
benign 0 0 3 3 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_022437.3(ABCG8):c.-15A>C rs72647315
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) rs140778634
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=) rs371968769
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=) rs369131115
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355
NM_022437.3(ABCG8):c.1386C>T (p.Asn462=) rs371163697
NM_022437.3(ABCG8):c.1411+8T>A rs201991639
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030
NM_022437.3(ABCG8):c.165+10C>T rs574722652
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) rs145482605

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