Full data view for gene CPT2

Information The variants shown are described using the NM_000098.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.53668099C>T g.53202427C>T CPT2(NM_000098.3):c.338C>T (p.(Ser113Leu), p.S113L) - CPT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338C>T r.(?) p.(Ser113Leu) Parent #2 - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - - - - Germline - - - - - DNA SEQ-NG-IT - - carnitine palmitoyltransferase II deficiency, late-onset - - - F - Spain - - - - - 1 Jorge Docampo Cordeiro
?/. - c.338C>T r.(?) p.(Ser113Leu) Parent #1 - VUS g.53668099C>T g.53202427C>T - - CPT2_000015 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74315294 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - - - rs74315294 Germline - - - - - DNA SEQ-NG - - CPT II deficiency, infantile - - 2 affected sisters F ? Greece - - - - - 2 Helen Latsoudis
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - - - rs74315294 Germline - - - - - DNA SEQ-NG - - CPT II deficiency, infantile - - 2 affected siblings (1M, 1F) M no Greece - 17y - - - 2 Helen Latsoudis
+?/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - likely pathogenic g.53668099C>T g.53202427C>T - - CPT2_000015 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.53668099C>T - CPT2(NM_000098.3):c.338C>T (p.(Ser113Leu), p.S113L) - CPT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.53668099C>T - CPT2(NM_000098.3):c.338C>T (p.(Ser113Leu), p.S113L) - CPT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Diekman 2014 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Diekman 2014 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Diekman 2014 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Diekman 2014 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Parent #1 - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Diekman 2014 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Diekman 2014 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.53668099C>T - CPT2(NM_000098.3):c.338C>T (p.(Ser113Leu), p.S113L) - CPT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.53668099C>T - - - CPT2_000015 - - - rs74315294 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - likely pathogenic g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Mohamed 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - rhabdomyolysis panel ? Pat1 PubMed: Mohamed 2026 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) ACMG pathogenic g.53668099C>T g.53202427C>T - - CPT2_000015 ACMG PS3, PS4, PM3_VS, PP3 PubMed: Molaei 2025 SCV001755398 - Germline - - - - - DNA SEQ - - MYOP Fam9609806Pat1207 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - 1 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) ACMG pathogenic g.53668099C>T g.53202427C>T - - CPT2_000015 ACMG PS3, PS4, PM3_VS, PP3 PubMed: Molaei 2025 SCV001755398 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam9803414Pat1362 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - 1 Johan den Dunnen
+?/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - likely pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Rubegni 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 78-gene panel hCK Pat17 PubMed: Rubegni 2019 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.338C>T r.(?) p.(Ser113Leu) Parent #1 - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? MW70 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 3 c.338C>T r.(?) p.(Ser113Leu) Parent #1 - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? SS71 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 3 c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 464-gene panel ? DP1133 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 3 c.338C>T r.(?) p.(Ser113Leu) Parent #1 - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? KW72 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 3 c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? AL73 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 ACMG PA2, PS3, PS4, PM3, PP3, PP5, BS1, BS2 PubMed: Zaganas 2020 - rs74315294 Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat5 PubMed: Zaganas 2020 2-generation family, 2 affected sisters/father/paternal siblings F - Greece - - - - - 2 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic (recessive) g.53668099C>T g.53202427C>T - - CPT2_000015 ACMG PA2, PS3, PS4, PM3, PP3, PP5, BS1, BS2 PubMed: Zaganas 2020 - rs74315294 Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat6 PubMed: Zaganas 2020 2-generation family, affected brother/sister M - Greece - - - - - 2 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Both (homozygous) - pathogenic g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat15 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.338C>T r.(?) p.(Ser113Leu) Unknown - pathogenic g.53668099C>T g.53202427C>T - - CPT2_000015 - PubMed: Kostoulas 2026 - rs74315294 Germline - 3/276 unrelated individuals - - - DNA SEQ-NG - WES Healthy/Control - PubMed: Kostoulas 2026 analysis 276 unrelated individuals (carrier screening) - - Greece - - - - - 3 Johan den Dunnen
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