ClinVar Miner

Variants in gene PNPLA2 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
226 24 0 4 22 0 0 24

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.

uncertain significance likely benign benign
uncertain significance 0 21 1
likely benign 21 0 4
benign 1 4 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp) rs577421006
NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe) rs202081894
NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser) rs140634178
NM_020376.4(PNPLA2):c.1430C>G (p.Pro477Arg) rs142588621
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) rs142588621
NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=) rs1434319423
NM_020376.4(PNPLA2):c.165G>T (p.Ala55=) rs761885395
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) rs139576982
NM_020376.4(PNPLA2):c.369C>T (p.Asp123=) rs142174851
NM_020376.4(PNPLA2):c.399C>T (p.Asn133=) rs143992505
NM_020376.4(PNPLA2):c.487-7G>A
NM_020376.4(PNPLA2):c.487-7G>C rs372342635
NM_020376.4(PNPLA2):c.487-8C>T rs201418203
NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=) rs147314508
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=) rs200897893
NM_020376.4(PNPLA2):c.597C>T (p.Ser199=) rs552415591
NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=) rs144220751
NM_020376.4(PNPLA2):c.747G>A (p.Leu249=) rs140959695
NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) rs140201358
NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu) rs201894536
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=) rs141190104
NM_020376.4(PNPLA2):c.912C>A (p.Leu304=) rs886048710
NM_020376.4(PNPLA2):c.919+4C>T rs148314086
NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe) rs137866968

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