Table 2. [CPT2 Variants Discussed in This GeneReview]. - GeneReviews®

Variant Classification	DNA Nucleotide Change	Predicted Protein Change (Alias ¹)	Reference Sequences
Benign	c.1055T>G ²	p.Phe352Cys	NM_000098.2 NP_000089.1
c.1102G>A	p.Val368Ile
c.1939A>G	p.Met647Val
Pathogenic	c.149C>A	p.Pro50His
c.338C>T	p.Ser113Leu
c.359A>G	p.Tyr120Cys
c.520G>A	p.Glu174Lys
c.534_558del25insT	p.Leu178_Ile186delinsPhe
c.641T>C	p.Met214Thr
c.680C>T	p.Pro227Leu
c.983A>G	p.Asp328Gly
c.1145G>A	p.Arg382Lys
c.1148T>A	p.Phe282Tyr
c.1238_1239delAG	p.Lys414ThrfsTer7 (Gln413fs)
c.[1238_1239del;1342T>C]	p.[Lys414ThrfsTer7;Phe448Leu] ³ (Gln413fs/Phe448Leu)
c.1342T>C	p.Phe448Leu
c.1507C>T	p.Arg503Cys
c.452G>A	p.Arg151Gln
c.1646G>A	p.Gly549Asp
c.1737delC	p.Tyr579Ter
c.1883A>C	p.Tyr628Ser
c.1891C>T	p.Arg631Cys
c.1923_1935del	p.Lys642ThrfsTer6 (Glu641fs) ⁴

Variant Classification

DNA Nucleotide Change

Predicted Protein Change
(Alias ¹)

Reference Sequences

Benign

c.1055T>G ²

p.Phe352Cys

NM_000098.2
NP_000089.1

c.1102G>A

p.Val368Ile

c.1939A>G

p.Met647Val

Pathogenic

c.149C>A

p.Pro50His

c.338C>T

p.Ser113Leu

c.359A>G

p.Tyr120Cys

c.520G>A

p.Glu174Lys

c.534_558del25insT

p.Leu178_Ile186delinsPhe

c.641T>C

p.Met214Thr

c.680C>T

p.Pro227Leu

c.983A>G

p.Asp328Gly

c.1145G>A

p.Arg382Lys

c.1148T>A

p.Phe282Tyr

c.1238_1239delAG

p.Lys414ThrfsTer7
(Gln413fs)

c.[1238_1239del;1342T>C]

p.[Lys414ThrfsTer7;Phe448Leu] ³
(Gln413fs/Phe448Leu)

c.1342T>C

p.Phe448Leu

c.1507C>T

p.Arg503Cys

c.452G>A

p.Arg151Gln

c.1646G>A

p.Gly549Asp

c.1737delC

p.Tyr579Ter

c.1883A>C

p.Tyr628Ser

c.1891C>T

p.Arg631Cys

c.1923_1935del

p.Lys642ThrfsTer6
(Glu641fs) ⁴

From: Carnitine Palmitoyltransferase II Deficiency

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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