ClinVar Miner

Variants in gene AP4E1 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 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
141 15 0 11 6 0 0 16

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 6 1
likely benign 6 0 11
benign 1 11 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326
NM_007347.5(AP4E1):c.1177-9T>C rs145851652
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu) rs148817957
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu) rs142762839
NM_007347.5(AP4E1):c.2346+10C>T rs112190952
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=) rs143624283
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375
NM_007347.5(AP4E1):c.2905-8A>G rs56813592
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser) rs141278078
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser) rs145541719
NM_007347.5(AP4E1):c.822A>G (p.Gln274=) rs991693986

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