ClinVar Miner

Variants in gene CPT2 with conflicting interpretations

See also:
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
144 38 0 19 9 1 6 32

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 11 4 0 1 1
likely pathogenic 11 0 2 0 0 0
uncertain significance 4 2 0 6 4 1
likely benign 0 0 6 0 8 0
benign 1 0 4 8 0 1
other 1 0 1 0 1 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000098.2(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.2(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000098.2(CPT2):c.1369A>T (p.Lys457Ter) rs756931329
NM_000098.2(CPT2):c.1372A>C (p.Lys458Gln) rs147276580
NM_000098.2(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000098.2(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000098.2(CPT2):c.1507C>T (p.Arg503Cys) rs74315296
NM_000098.2(CPT2):c.1512G>T (p.Pro504=) rs150953507
NM_000098.2(CPT2):c.1578T>C (p.Gly526=) rs113493395
NM_000098.2(CPT2):c.1598T>C (p.Val533Ala) rs144703247
NM_000098.2(CPT2):c.1634A>C (p.Glu545Ala) rs17848485
NM_000098.2(CPT2):c.1646G>A (p.Gly549Asp) rs186044004
NM_000098.2(CPT2):c.1657G>A (p.Asp553Asn) rs28936376
NM_000098.2(CPT2):c.1763C>G (p.Ser588Cys) rs1871748
NM_000098.2(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000098.2(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.2(CPT2):c.1939A>G (p.Met647Val) rs1799822
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.2(CPT2):c.353A>G (p.Asp118Gly) rs148035648
NM_000098.2(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.2(CPT2):c.365C>T (p.Ser122Phe) rs192275019
NM_000098.2(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000098.2(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.2(CPT2):c.452G>A (p.Arg151Gln) rs515726177
NM_000098.2(CPT2):c.511C>T (p.Leu171=) rs2229292
NM_000098.2(CPT2):c.520G>A (p.Glu174Lys) rs28936674
NM_000098.2(CPT2):c.534_558del25insT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.2(CPT2):c.588T>C (p.Pro196=) rs140853350
NM_000098.2(CPT2):c.680C>T (p.Pro227Leu) rs74315298
NM_000098.2(CPT2):c.886C>T (p.Arg296Ter) rs727503887
NM_000098.2(CPT2):c.932A>G (p.Asn311Ser) rs142790440

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