ClinVar Miner

Variants in gene CPT1A 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
124 15 13 6 4 0 5 23

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 13 5 3 0 2
likely pathogenic 5 0 0 0 0
uncertain significance 3 0 0 4 0
likely benign 0 0 4 0 1
benign 2 0 0 1 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_001031847.2(CPT1A):c.1575+533_1575+534del rs1169875761
NM_001031847.2(CPT1A):c.948delG (p.Ile317Serfs) rs80356800
NM_001876.3(CPT1A):c.(?_1744)_2107del (p.(?))
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly) rs80356787
NM_001876.4(CPT1A):c.1163+1G>A rs148059333
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly) rs80356778
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=) rs61731905
NM_001876.4(CPT1A):c.1876-1G>A rs80356798
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu) rs28936374
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780
NM_001876.4(CPT1A):c.2142+8C>T rs147563740
NM_001876.4(CPT1A):c.2142G>A (p.Pro714=) rs150792109
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) rs398123654
NM_001876.4(CPT1A):c.2235+4T>C rs755308448
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) rs80356775
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=) rs139789100
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796

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