ClinVar Miner

Variants in gene CPT2 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
344 46 0 12 22 1 5 39

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 other
pathogenic 0 7 3 0 0 0
likely pathogenic 7 0 2 0 0 0
uncertain significance 3 2 0 20 3 0
likely benign 0 0 20 0 5 0
benign 0 0 3 5 0 1
other 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile)
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000098.3(CPT2):c.1404G>A (p.Gln468=) rs140771069
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296
NM_000098.3(CPT2):c.1536C>T (p.Cys512=) rs199573389
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) rs78266699
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser)
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln) rs369369333
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly)
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) rs145237292
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr) rs750191719

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