Full data view for gene CPT2

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

93 entries on 1 page. Showing entries 1 - 93.
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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.149C>A r.(?) p.(Pro50His) Unknown - pathogenic g.53662764C>A - CPT2(NM_000098.3):c.149C>A (p.P50H) - CPT2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.152+7C>T r.(=) p.(=) Unknown - likely benign g.53662774C>T g.53197102C>T - - CPT2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.152+56C>A r.(=) p.(=) Parent #1 - benign g.53662823C>A g.53197151C>A - - CPT2_000003 - - - rs72673121 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.233+2T>C r.spl? p.? Unknown - pathogenic g.53666473T>C - CPT2(NM_000098.3):c.233+2T>C - CPT2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234-98T>G r.(=) p.(=) Unknown - benign g.53667897T>G g.53202225T>G CPT2(NM_000098.3):c.234-98T>G - CPT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236A>C r.(?) p.(Lys79Thr) Unknown - VUS g.53667997A>C g.53202325A>C CPT2(NM_000098.2):c.236A>C (p.K79T), CPT2(NM_000098.3):c.236A>C (p.K79T) - CPT2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236A>C r.(?) p.(Lys79Thr) Unknown - likely benign g.53667997A>C g.53202325A>C CPT2(NM_000098.2):c.236A>C (p.K79T), CPT2(NM_000098.3):c.236A>C (p.K79T) - CPT2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.302C>T r.(?) p.(Ala101Val) Unknown - likely benign g.53668063C>T - CPT2(NM_000098.3):c.302C>T (p.A101V) - CPT2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321A>G r.(?) p.(=) Unknown - likely benign g.53668082A>G - CPT2(NM_000098.3):c.321A>G (p.K107=) - CPT2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - 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.370C>T r.(?) p.(Arg124Ter) Unknown - pathogenic g.53675716C>T g.53210044C>T CPT2(NM_000098.3):c.370C>T (p.R124*) - CPT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.370C>T r.(?) p.(Arg124Ter) Unknown - pathogenic g.53675716C>T g.53210044C>T CPT2(NM_000098.3):c.370C>T (p.R124*) - CPT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.371C>T r.(?) p.(Arg124Ter) Parent #2 - pathogenic (recessive) g.53675716C>T g.53210044C>T 371C>T (Arg124Val) - CPT2_000016 - PubMed: Diekman 2014 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Diekman 2014 - M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.448A>G r.(?) p.(Thr150Ala) Unknown - VUS g.53675794A>G - CPT2(NM_000098.3):c.448A>G (p.T150A) - CPT2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.451C>T r.(?) p.(Arg151Trp) Unknown - pathogenic g.53675797C>T g.53210125C>T - - CPT2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500G>A r.(?) p.(Arg167Gln) Unknown - VUS g.53675846G>A - CPT2(NM_000098.3):c.500G>A (p.R167Q) - CPT2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.502_503del r.(?) p.(Ala168TrpfsTer16) Unknown - likely pathogenic g.53675848_53675849del - CPT2(NM_000098.2):c.502_503delGC (p.A168Wfs*16) - CPT2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.505_508del r.(?) p.(Gly169PhefsTer9) Unknown - likely pathogenic g.53675851_53675854del - CPT2(NM_000098.2):c.505_508delGGCC (p.G169Ffs*9) - CPT2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520G>C r.(?) p.(Glu174Gln) Unknown - VUS g.53675866G>C - CPT2(NM_000098.2):c.520G>C (p.(Glu174Gln)) - CPT2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.534_558delinsT r.(?) p.(Leu178_Ile186delinsPhe) Parent #1 - pathogenic g.53675880_53675904delinsT g.53210208_53210232delinsT - - CPT2_000001 c.338C>T, p.(Ser113Leu) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.577C>G r.(?) p.(Arg193Gly) Unknown - VUS g.53675923C>G - CPT2(NM_000098.2):c.577C>G (p.R193G), CPT2(NM_000098.3):c.577C>G (p.R193G) - CPT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.577C>G r.(?) p.(Arg193Gly) Unknown - VUS g.53675923C>G - CPT2(NM_000098.2):c.577C>G (p.R193G), CPT2(NM_000098.3):c.577C>G (p.R193G) - CPT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.577C>T r.(?) p.(Arg193Cys) Unknown - likely pathogenic g.53675923C>T g.53210251C>T CPT2(NM_000098.3):c.577C>T (p.R193C) - CPT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.577C>T r.(?) p.(Arg193Cys) Unknown - likely pathogenic g.53675923C>T g.53210251C>T CPT2(NM_000098.3):c.577C>T (p.R193C) - CPT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.577C>T r.(?) p.(Arg193Cys) Unknown - likely pathogenic g.53675923C>T - CPT2(NM_000098.3):c.577C>T (p.R193C) - CPT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.673C>T r.(?) p.(Arg225Cys) Unknown - likely pathogenic g.53676019C>T g.53210347C>T - - CPT2_000042 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.689G>T r.(?) p.(Ser230Ile) Unknown - likely benign g.53676035G>T g.53210363G>T CPT2(NM_000098.2):c.689G>T (p.S230I) - CPT2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.751T>G r.(?) p.(Phe251Val) Unknown - VUS g.53676097T>G - - - CPT2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.755A>G r.(?) p.(Tyr252Cys) Unknown - VUS g.53676101A>G g.53210429A>G CPT2(NM_000098.2):c.755A>G (p.Y252C), CPT2(NM_000098.3):c.755A>G (p.(Tyr252Cys)) - CPT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.755A>G r.(?) p.(Tyr252Cys) Unknown - VUS g.53676101A>G - CPT2(NM_000098.2):c.755A>G (p.Y252C), CPT2(NM_000098.3):c.755A>G (p.(Tyr252Cys)) - CPT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800C>T r.(?) p.(Ser267Leu) Unknown - VUS g.53676146C>T - CPT2(NM_000098.3):c.800C>T (p.S267L) - CPT2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.877A>G r.(?) p.(Ser293Gly) Unknown - VUS g.53676223A>G - CPT2(NM_000098.2):c.877A>G (p.S293G), CPT2(NM_000098.3):c.877A>G (p.S293G) - CPT2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.877A>G r.(?) p.(Ser293Gly) Unknown - likely benign g.53676223A>G - CPT2(NM_000098.2):c.877A>G (p.S293G), CPT2(NM_000098.3):c.877A>G (p.S293G) - CPT2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.886C>T r.(?) p.(Arg296*) Parent #1 - likely pathogenic g.53676232C>T g.53210560C>T - - CPT2_000032 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs727503887 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.912G>T r.(?) p.(Gln304His) Unknown - VUS g.53676258G>T g.53210586G>T CPT2(NM_000098.3):c.912G>T (p.Q304H) - CPT2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.919A>C r.(?) p.(Met307Leu) Unknown - likely benign g.53676265A>C g.53210593A>C CPT2(NM_000098.3):c.919A>C (p.M307L) - CPT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932A>G r.(?) p.(Asn311Ser) Unknown - likely benign g.53676278A>G - CPT2(NM_000098.3):c.932A>G (p.N311S) - CPT2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932A>G r.(?) p.(Asn311Ser) Unknown - likely benign g.53676278A>G - CPT2(NM_000098.3):c.932A>G (p.N311S) - CPT2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.969_970del r.(?) p.(Phe323LeufsTer6) Unknown - pathogenic g.53676315_53676316del - CPT2(NM_000098.3):c.969_970delCT (p.F323Lfs*6) - CPT2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1025T>C r.(?) p.(Met342Thr) Unknown - VUS g.53676371T>C - CPT2(NM_000098.3):c.1025T>C (p.(Met342Thr), p.M342T) - CPT2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1025T>C r.(?) p.(Met342Thr) Unknown - VUS g.53676371T>C - CPT2(NM_000098.3):c.1025T>C (p.(Met342Thr), p.M342T) - CPT2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1043C>G r.(?) p.(Thr348Arg) Unknown - VUS g.53676389C>G - CPT2(NM_000098.2):c.1043C>G (p.T348R) - CPT2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1048C>T r.(?) p.(Arg350Cys) Unknown - likely pathogenic g.53676394C>T g.53210722C>T CPT2(NM_000098.3):c.1048C>T (p.R350C) - CPT2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1048C>T r.(?) p.(Arg350Cys) Unknown - VUS g.53676394C>T - CPT2(NM_000098.3):c.1048C>T (p.R350C) - CPT2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1054T>C r.(?) p.(Phe352Leu) Unknown - VUS g.53676400T>C g.53210728T>C CPT2(NM_000098.3):c.1054T>C (p.F352L) - CPT2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1055T>G r.(?) p.(Phe352Cys) Unknown - benign g.53676401T>G g.53210729T>G CPT2(NM_000098.2):c.1055T>G (p.(Phe352Cys)), CPT2(NM_000098.3):c.1055T>G (p.F352C) - CPT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1055T>G r.(?) p.(Phe352Cys) Parent #1 - likely benign g.53676401T>G g.53210729T>G - - CPT2_000009 133 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229291 Germline - 133/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 133 Mohammed Faruq
-?/. - c.1055T>G r.(?) p.(Phe352Cys) Both (homozygous) - likely benign g.53676401T>G g.53210729T>G - - CPT2_000009 17 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229291 Germline - 17/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
-?/. - c.1055T>G r.(?) p.(Phe352Cys) Unknown - likely benign g.53676401T>G - CPT2(NM_000098.2):c.1055T>G (p.(Phe352Cys)), CPT2(NM_000098.3):c.1055T>G (p.F352C) - CPT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Ile) Unknown - benign g.53676448G>A g.53210776G>A CPT2(NM_000098.3):c.1102G>A (p.V368I) - CPT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Ile) Unknown - benign g.53676448G>A g.53210776G>A CPT2(NM_000098.3):c.1102G>A (p.V368I) - CPT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.1117T>C r.(?) p.(Ser373Pro) Paternal (confirmed) - likely pathogenic g.53676463T>C g.53210791T>C - - CPT2_000005 SIFT: deleteterious, mutation taster: disease causing, Polyphen: probably damaging - - - Germline - - - - - DNA SEQ - - carnitine palmitoyltransferase II deficiency, late-onset - - - - - - - - - - - 1 Daniela Avila-Smirnow
+?/. - c.1148T>A r.(?) p.(Phe383Tyr) Parent #1 - likely pathogenic (recessive) g.53676494T>A g.53210822T>A - - CPT2_000031 variant not associated with phenotype PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat157 PubMed: Park 2017 - M - Korea - - - - - 1 Johan den Dunnen
?/. - c.1232C>T r.(?) p.(Thr411Met) Unknown - VUS g.53676578C>T g.53210906C>T - - CPT2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1284A>T r.(?) p.(Thr428=) Unknown - likely benign g.53676630A>T - CPT2(NM_000098.2):c.1284A>T (p.T428=) - CPT2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1342T>C r.(?) p.(Phe448Leu) Unknown - pathogenic g.53676688T>C g.53211016T>C CPT2(NM_000098.3):c.1342T>C (p.F448L) - CPT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1397T>C r.(?) p.(Val466Ala) Unknown - VUS g.53676743T>C - CPT2(NM_000098.3):c.1397T>C (p.(Val466Ala)) - CPT2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1436A>G r.(?) p.(Tyr479Cys) Unknown - VUS g.53676782A>G g.53211110A>G CPT2(NM_000098.2):c.1436A>G (p.Y479C), CPT2(NM_000098.3):c.1436A>G (p.(Tyr479Cys), p.Y479C) - CPT2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1436A>G r.(?) p.(Tyr479Cys) Unknown - VUS g.53676782A>G - CPT2(NM_000098.2):c.1436A>G (p.Y479C), CPT2(NM_000098.3):c.1436A>G (p.(Tyr479Cys), p.Y479C) - CPT2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1436A>G r.(?) p.(Tyr479Cys) Unknown - likely pathogenic g.53676782A>G - CPT2(NM_000098.2):c.1436A>G (p.Y479C), CPT2(NM_000098.3):c.1436A>G (p.(Tyr479Cys), p.Y479C) - CPT2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1436A>T r.(?) p.(Tyr479Phe) Parent #1 - VUS g.53676782A>T g.53211110A>T - - CPT2_000002 Polyphen: benign; SIFT, MutationTaster: path. - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1438G>A r.(?) p.(Gly480Arg) Unknown - VUS g.53676784G>A - CPT2(NM_000098.2):c.1438G>A (p.G480R) - CPT2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1438G>A r.(?) p.(Gly480Arg) Unknown - VUS g.53676784G>A g.53211112G>A - - CPT2_000028 no segregation analysis PubMed: Westra 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES NMD Pat142 PubMed: Westra 2019 - M - - - - - - - 1 Johan den Dunnen
-/. - c.1519G>A r.(?) p.(Val507Ile) Unknown - benign g.53676865G>A g.53211193G>A CPT2(NM_000098.3):c.1519G>A (p.V507I) - CPT2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1578T>C r.(?) p.(Gly526=) Unknown - likely benign g.53676924T>C - CPT2(NM_000098.2):c.1578T>C (p.G526=), CPT2(NM_000098.3):c.1578T>C (p.G526=) - CPT2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1578T>C r.(?) p.(Gly526=) Unknown - likely benign g.53676924T>C - CPT2(NM_000098.2):c.1578T>C (p.G526=), CPT2(NM_000098.3):c.1578T>C (p.G526=) - CPT2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1602G>A r.(?) p.(Glu534=) Unknown - likely benign g.53676948G>A g.53211276G>A CPT2(NM_000098.2):c.1602G>A (p.E534=), CPT2(NM_000098.3):c.1602G>A (p.E534=) - CPT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1602G>A r.(?) p.(Glu534=) Unknown - likely benign g.53676948G>A g.53211276G>A CPT2(NM_000098.2):c.1602G>A (p.E534=), CPT2(NM_000098.3):c.1602G>A (p.E534=) - CPT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.1634A>C r.(?) p.(Glu545Ala) Unknown - VUS g.53676980A>C g.53211308A>C - - CPT2_000004 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs17848485 Unknown ? - - - - DNA SEQ-NG-I - - SIDS SIDS001 PubMed: Neubauer 2017, Journal: Neubauer 2017 - F ? Switzerland Europe 00y09m - - - 1 Cordula Haas
?/. - c.1634A>C r.(?) p.(Glu545Ala) Parent #1 - VUS g.53676980A>C g.53211308A>C - - CPT2_000004 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17848485 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.1634A>C r.(?) p.(Glu545Ala) Unknown - VUS g.53676980A>C g.53211308A>C CPT2(NM_000098.2):c.1634A>C (p.E545A) - CPT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1657G>A r.(?) p.(Asp553Asn) Parent #1 - VUS g.53678947G>A g.53213275G>A - - CPT2_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28936376 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1670T>C r.(?) p.(Phe557Ser) Unknown - VUS g.53678960T>C - CPT2(NM_000098.2):c.1670T>C (p.F557S) - CPT2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1776G>A r.(?) p.(Leu592=) Unknown - likely benign g.53679066G>A g.53213394G>A CPT2(NM_000098.3):c.1776G>A (p.L592=) - CPT2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1806T>C r.(?) p.(Phe602=) Unknown - benign g.53679096T>C g.53213424T>C CPT2(NM_000098.2):c.1806T>C (p.F602=), CPT2(NM_000098.3):c.1806T>C (p.F602=) - CPT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1806T>C r.(?) p.(Phe602=) Unknown - likely benign g.53679096T>C - CPT2(NM_000098.2):c.1806T>C (p.F602=), CPT2(NM_000098.3):c.1806T>C (p.F602=) - CPT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1806T>C r.(?) p.(Phe602=) Unknown - likely benign g.53679096T>C - CPT2(NM_000098.2):c.1806T>C (p.F602=), CPT2(NM_000098.3):c.1806T>C (p.F602=) - CPT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1811_1812del r.(?) p.(Pro604Argfs*4) Parent #1 - likely pathogenic g.53679101_53679102del g.53213429_53213430del 1811_1812delCT - CPT2_000022 - - - - Germline - - - - - DNA SEQ-NG-IT - - carnitine palmitoyltransferase II deficiency, late-onset - - - F - Spain - - - - - 1 Jorge Docampo Cordeiro
?/. - c.1892G>A r.(?) p.(Arg631His) Unknown - VUS g.53679182G>A g.53213510G>A - - CPT2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1939A>G r.(?) p.(Met647Val) Unknown - benign g.53679229A>G g.53213557A>G - - CPT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1941G>A r.(?) p.(Met647Ile) Unknown - VUS g.53679231G>A - CPT2(NM_000098.3):c.1941G>A (p.(Met647Ile)) - CPT2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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