ClinVar Miner

Variants in gene PRICKLE1 with conflicting interpretations

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
157 21 3 17 13 0 5 29

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 3 1 3 1 1
likely pathogenic 1 0 1 0 0
uncertain significance 3 1 0 9 10
likely benign 1 0 9 0 16
benign 1 0 10 16 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_153026.2(PRICKLE1):c.-40G>A rs370363439
NM_153026.2(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236
NM_153026.2(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.2(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619
NM_153026.2(PRICKLE1):c.114G>A (p.Pro38=) rs141743294
NM_153026.2(PRICKLE1):c.1176T>C (p.Phe392=) rs571386763
NM_153026.2(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153026.2(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.2(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.2(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.2(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563
NM_153026.2(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562
NM_153026.2(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604
NM_153026.2(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.2(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522
NM_153026.2(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104
NM_153026.2(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.2(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.2(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_153026.2(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153026.2(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068
NM_153026.2(PRICKLE1):c.431G>A (p.Arg144His) rs281865563
NM_153026.2(PRICKLE1):c.435G>A (p.Ala145=) rs146650383
NM_153026.2(PRICKLE1):c.471C>T (p.Val157=) rs201613485
NM_153026.2(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.2(PRICKLE1):c.744G>A (p.Ala248=) rs34778200
NM_153026.2(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153026.2(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.2(PRICKLE1):c.954C>T (p.Ser318=) rs139421676

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