ClinVar Miner

Variants in gene PNPLA6 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
315 14 0 15 15 0 2 30

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 uncertain significance likely benign benign
pathogenic 0 2 0 0
uncertain significance 2 0 11 5
likely benign 0 11 0 15
benign 0 5 15 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=) rs199903577
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=) rs200310048
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=) rs62111288
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=) rs757870828
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) rs553088930
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=) rs522776
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala) rs201902695
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=) rs367675784
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=) rs35770729
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=) rs112133109
NM_001166114.2(PNPLA6):c.3699+9G>A rs201144113
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=) rs149871062
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) rs34030828
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=) rs143060121
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=) rs375424103
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040
NM_001166114.2(PNPLA6):c.976C>T (p.Leu326=) rs559393431
NM_006702.5(PNPLA6):c.2271C>T (p.His757=) rs143914980
NM_006702.5(PNPLA6):c.3946C>T (p.Leu1316=) rs150392453

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