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 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
131 16 0 11 9 0 2 20

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 2 0 0
uncertain significance 2 0 5 6
likely benign 0 5 0 11
benign 0 6 11 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_001166111.1(PNPLA6):c.2389G>A (p.Val797Met) rs145988230
NM_001166111.1(PNPLA6):c.4075C>T (p.Arg1359Trp) rs374434303
NM_006702.4(PNPLA6):c.1090G>C (p.Ala364Pro) rs17854645
NM_006702.4(PNPLA6):c.1136-6C>T rs574930
NM_006702.4(PNPLA6):c.1340C>T (p.Pro447Leu) rs145191932
NM_006702.4(PNPLA6):c.1563C>T (p.Asp521=) rs761103593
NM_006702.4(PNPLA6):c.1954-15C>T rs7250363
NM_006702.4(PNPLA6):c.1977G>A (p.Pro659=) rs8107538
NM_006702.4(PNPLA6):c.198+13C>T rs200676307
NM_006702.4(PNPLA6):c.2704-4C>T rs533705093
NM_006702.4(PNPLA6):c.3381C>T (p.Ser1127=) rs138837774
NM_006702.4(PNPLA6):c.3404G>A (p.Arg1135Gln) rs1057517802
NM_006702.4(PNPLA6):c.3435T>C (p.Val1145=) rs35770729
NM_006702.4(PNPLA6):c.3489G>A (p.Gln1163=) rs112133109
NM_006702.4(PNPLA6):c.3798C>T (p.Asp1266=) rs149871062
NM_006702.4(PNPLA6):c.3840C>T (p.Ala1280=) rs34030828
NM_006702.4(PNPLA6):c.3946C>T (p.Leu1316=) rs150392453
NM_006702.4(PNPLA6):c.3964G>A (p.Gly1322Ser) rs145178162
NM_006702.4(PNPLA6):c.54A>C (p.Gly18=) rs140825810
NM_006702.4(PNPLA6):c.648C>T (p.Asn216=) rs591040

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