| NM_000098.3(CPT2):c.1858T>C (p.Trp620Arg) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003451151]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003451152]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003451150]|Carnitine palmitoyltransferase II deficiency [RCV000530360]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003451153]|Inborn genetic diseases [RCV002527740] |
Chr1:53213476 [GRCh38]
Chr1:53679148 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003451165]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003451166]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002497101]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003451164]|Carnitine palmitoyltransferase II deficiency [RCV000525082]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456090] |
Chr1:53210507 [GRCh38]
Chr1:53676179 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.984T>A (p.Asp328Glu) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV002535029]|not provided [RCV000722289] |
Chr1:53210658 [GRCh38]
Chr1:53676330 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.960G>A (p.Ser320=) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV001500528] |
Chr1:53210634 [GRCh38]
Chr1:53676306 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000415574]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000009508]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002476950]|Carnitine palmitoyltransferase II deficiency [RCV000202472]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003473062]|not provided [RCV001781211] |
Chr1:53213509 [GRCh38]
Chr1:53679181 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) |
single nucleotide variant |
Abnormality of the musculature [RCV001813968]|Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000009510]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000194764]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000515252]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000576571]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001004157]|Carnitine palmitoyltransferase II deficiency [RCV000202499]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003137507]|Inborn genetic diseases [RCV000624845]|Rhabdomyolysis [RCV000662284]|not provided [RCV000185836] |
Chr1:53202427 [GRCh38]
Chr1:53668099 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000098.3(CPT2):c.149C>A (p.Pro50His) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000009511]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000009512]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000762941]|Carnitine palmitoyltransferase II deficiency [RCV000202440]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003473063]|Pancytopenia [RCV000735345]|not provided [RCV000440440] |
Chr1:53197092 [GRCh38]
Chr1:53662764 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000009513]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000675130] |
Chr1:53213275 [GRCh38]
Chr1:53678947 [GRCh37]
Chr1:1p32.3 |
pathogenic|uncertain significance |
| NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000415611]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000009514]|Carnitine palmitoyltransferase II deficiency [RCV000202449] |
Chr1:53213501 [GRCh38]
Chr1:53679173 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic|not provided |
| NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000009516]|Carnitine palmitoyltransferase II deficiency [RCV000202437]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003473064] |
Chr1:53210194 [GRCh38]
Chr1:53675866 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000009518]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000411002]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000009517]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000762943]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001004159]|Carnitine palmitoyltransferase II deficiency [RCV000202462]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003473065]|Seizure [RCV001270097] |
Chr1:53210822 [GRCh38]
Chr1:53676494 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000009519]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001004160]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002490348]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003450624]|Carnitine palmitoyltransferase II deficiency [RCV000202513]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003473066]|not provided [RCV003317032] |
Chr1:53211181 [GRCh38]
Chr1:53676853 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| CPT2, 1-BP INS/25-BP DEL, NT534 |
indel |
Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000009523] |
Chr1:1p32 |
pathogenic |
| NM_000098.3(CPT2):c.234-1G>A |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000009524] |
Chr1:53202322 [GRCh38]
Chr1:53667994 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| CPT2, 11-BP DUP, NT997 |
duplication |
Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000009525] |
Chr1:1p32 |
pathogenic |
| NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) |
single nucleotide variant |
CPT2-related disorder [RCV003934818]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000009526]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000576348]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002496314]|Carnitine palmitoyltransferase II deficiency [RCV000202466]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003473067]|not provided [RCV000185840] |
Chr1:53210354 [GRCh38]
Chr1:53676026 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic|uncertain significance |
| CPT2, 3-BP DEL/5-BP INS, NT109 |
indel |
Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000009527] |
Chr1:1p32 |
pathogenic |
| NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000009528]|Carnitine palmitoyltransferase II deficiency [RCV001851765] |
Chr1:53211034 [GRCh38]
Chr1:53676706 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_000098.3(CPT2):c.638A>G (p.Asp213Gly) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000009529]|Carnitine palmitoyltransferase II deficiency [RCV003581557] |
Chr1:53210312 [GRCh38]
Chr1:53675984 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000409888]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000408956]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000009530]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000762942]|Carnitine palmitoyltransferase II deficiency [RCV000202546]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003473068]|not provided [RCV001781212] |
Chr1:53210033 [GRCh38]
Chr1:53675705 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000098.3(CPT2):c.1080C>T (p.Ile360=) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003451701]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003451702]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002488215]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003451700]|Carnitine palmitoyltransferase II deficiency [RCV001394458]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003451703] |
Chr1:53210754 [GRCh38]
Chr1:53676426 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_000098.3(CPT2):c.1654T>C (p.Phe552Leu) |
single nucleotide variant |
not provided [RCV000722790] |
Chr1:53213272 [GRCh38]
Chr1:53678944 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.365C>T (p.Ser122Phe) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000536664]|not provided [RCV001532537]|not specified [RCV000518089] |
Chr1:53210039 [GRCh38]
Chr1:53675711 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_000098.3(CPT2):c.1675C>G (p.Leu559Val) |
single nucleotide variant |
not provided [RCV000722483] |
Chr1:53213293 [GRCh38]
Chr1:53678965 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000545256] |
Chr1:53213559 [GRCh38]
Chr1:53679231 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_000098.3(CPT2):c.1718T>G (p.Leu573Arg) |
single nucleotide variant |
not provided [RCV000723110] |
Chr1:53213336 [GRCh38]
Chr1:53679008 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003449550]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003449551]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000672447]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000763963]|Carnitine palmitoyltransferase II deficiency [RCV000527595]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456088]|not provided [RCV003144325] |
Chr1:53213297 [GRCh38]
Chr1:53678969 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.1806T>C (p.Phe602=) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, neonatal form [RCV001449948]|Carnitine palmitoyltransferase II deficiency [RCV001082115]|not provided [RCV000596578]|not specified [RCV001264437] |
Chr1:53213424 [GRCh38]
Chr1:53679096 [GRCh37]
Chr1:1p32.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NC_000001.11:g.(?_53200699)_(53200819_?)del |
deletion |
Carnitine palmitoyltransferase II deficiency [RCV000544302] |
Chr1:53200699..53200819 [GRCh38]
Chr1:53666371..53666491 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.932A>G (p.Asn311Ser) |
single nucleotide variant |
CPT2-related disorder [RCV003962430]|Carnitine palmitoyltransferase II deficiency [RCV000549753]|not specified [RCV000517266] |
Chr1:53210606 [GRCh38]
Chr1:53676278 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_000098.3(CPT2):c.1372A>C (p.Lys458Gln) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001334222]|Carnitine palmitoyltransferase II deficiency [RCV001085292]|not provided [RCV000521689] |
Chr1:53211046 [GRCh38]
Chr1:53676718 [GRCh37]
Chr1:1p32.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] |
Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3 |
pathogenic |
| GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 |
copy number gain |
See cases [RCV000051822] |
Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1 |
pathogenic |
| NM_000098.2(CPT2):c.1680G>A (p.Arg560=) |
single nucleotide variant |
Malignant melanoma [RCV000064817] |
Chr1:53213298 [GRCh38]
Chr1:53678970 [GRCh37]
Chr1:53451558 [NCBI36]
Chr1:1p32.3 |
not provided |
| NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) |
single nucleotide variant |
CPT2-related disorder [RCV003982874]|Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003453000]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003453001]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000578014]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003452999]|Carnitine palmitoyltransferase II deficiency [RCV000202443]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456002]|not provided [RCV000444353]|not specified [RCV000078115] |
Chr1:53210729 [GRCh38]
Chr1:53210729..53210730 [GRCh38]
Chr1:53676401 [GRCh37]
Chr1:53676401..53676402 [GRCh37]
Chr1:1p32.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000098.3(CPT2):c.1102G>A (p.Val368Ile) |
single nucleotide variant |
CPT2-related disorder [RCV003974955]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV001533572]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001533571]|Carnitine palmitoyltransferase II deficiency [RCV000202483]|not provided [RCV000711317]|not specified [RCV000078116] |
Chr1:53210776 [GRCh38]
Chr1:53676448 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) |
deletion |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV002225079]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000576522]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002490673]|Carnitine palmitoyltransferase II deficiency [RCV000202516]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003474675]|not provided [RCV000185837] |
Chr1:53210912..53210913 [GRCh38]
Chr1:53676584..53676585 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_000098.3(CPT2):c.1547T>C (p.Phe516Ser) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV001854372]|not provided [RCV000078118] |
Chr1:53211221 [GRCh38]
Chr1:53676893 [GRCh37]
Chr1:1p32.3 |
likely pathogenic|uncertain significance |
| NM_000098.3(CPT2):c.1767G>A (p.Thr589=) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003453003]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003453004]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002498374]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003453002]|Carnitine palmitoyltransferase II deficiency [RCV000553368]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456003]|not provided [RCV003656100]|not specified [RCV000078119] |
Chr1:53213385 [GRCh38]
Chr1:53679057 [GRCh37]
Chr1:1p32.3 |
benign|likely benign |
| NM_000098.3(CPT2):c.1939A>G (p.Met647Val) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, neonatal form [RCV001533573]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000578093]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000986323]|Carnitine palmitoyltransferase II deficiency [RCV000202533]|not provided [RCV001811357]|not specified [RCV000078120] |
Chr1:53213557 [GRCh38]
Chr1:53213557..53213558 [GRCh38]
Chr1:53679229 [GRCh37]
Chr1:53679229..53679230 [GRCh37]
Chr1:1p32.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000098.3(CPT2):c.341-16T>C |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV002055091]|not provided [RCV000078122] |
Chr1:53209999 [GRCh38]
Chr1:53675671 [GRCh37]
Chr1:1p32.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.302C>T (p.Ala101Val) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003453055]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003453056]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000986322]|Carnitine palmitoyltransferase II deficiency [RCV000544913]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456004]|not provided [RCV001704048]|not specified [RCV000124603] |
Chr1:53202391 [GRCh38]
Chr1:53668063 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) |
indel |
CPT2-related disorder [RCV003398720]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV002274921]|Carnitine palmitoyltransferase II deficiency [RCV000202494]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003474723]|not provided [RCV000414700] |
Chr1:53210208..53210232 [GRCh38]
Chr1:53675880..53675904 [GRCh37]
Chr1:1p32.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.511C>T (p.Leu171=) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003454456]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003454457]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003454455]|Carnitine palmitoyltransferase II deficiency [RCV000385074]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003454458]|not provided [RCV001706139]|not specified [RCV000178037] |
Chr1:53210185 [GRCh38]
Chr1:53675857 [GRCh37]
Chr1:1p32.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000098.3(CPT2):c.143G>A (p.Ser48Asn) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV001348111] |
Chr1:53197086 [GRCh38]
Chr1:53662758 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 |
copy number gain |
See cases [RCV000141758] |
Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3 |
likely pathogenic |
| NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003453045]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003453046]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003453044]|Carnitine palmitoyltransferase II deficiency [RCV000202475]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003453047]|not provided [RCV000591616] |
Chr1:53213264 [GRCh38]
Chr1:53678936 [GRCh37]
Chr1:1p32.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.983A>G (p.Asp328Gly) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000202505] |
Chr1:53210657 [GRCh38]
Chr1:53676329 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic|not provided |
| NM_000098.3(CPT2):c.1925_1937del (p.Lys642fs) |
deletion |
Carnitine palmitoyltransferase II deficiency [RCV000202522] |
Chr1:53213540..53213552 [GRCh38]
Chr1:53679212..53679224 [GRCh37]
Chr1:1p32.3 |
pathogenic|not provided |
| NM_000098.3(CPT2):c.1737del (p.Ala578_Tyr579insTer) |
deletion |
Carnitine palmitoyltransferase II deficiency [RCV000202525] |
Chr1:53213355 [GRCh38]
Chr1:53679027 [GRCh37]
Chr1:1p32.3 |
pathogenic|not provided |
| NM_000098.3(CPT2):c.1145G>A (p.Arg382Lys) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000202539] |
Chr1:53210819 [GRCh38]
Chr1:53676491 [GRCh37]
Chr1:1p32.3 |
pathogenic|not provided |
| NM_000098.3(CPT2):c.641T>C (p.Met214Thr) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000202541] |
Chr1:53210315 [GRCh38]
Chr1:53675987 [GRCh37]
Chr1:1p32.3 |
pathogenic|not provided |
| NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000984253]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002477298]|Carnitine palmitoyltransferase II deficiency [RCV000202567]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003474724]|not provided [RCV000492874] |
Chr1:53210126 [GRCh38]
Chr1:53675798 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003989332]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000169096]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002498726]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV004554716]|Carnitine palmitoyltransferase II deficiency [RCV000539401]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003474808]|not provided [RCV000153105] |
Chr1:53210560 [GRCh38]
Chr1:53676232 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.3(CPT2):c.953T>G (p.Val318Gly) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003453145]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003453146]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002483326]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003453144]|Carnitine palmitoyltransferase II deficiency [RCV001850089]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003453147]|not provided [RCV000153106] |
Chr1:53210627 [GRCh38]
Chr1:53676299 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) |
single nucleotide variant |
CPT2-related disorder [RCV003952745]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000669380]|Carnitine palmitoyltransferase II deficiency [RCV001085202]|not provided [RCV000723709] |
Chr1:53211308 [GRCh38]
Chr1:53676980 [GRCh37]
Chr1:1p32.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) |
single nucleotide variant |
CPT2-related disorder [RCV003947445]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000169067]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000762944]|Carnitine palmitoyltransferase II deficiency [RCV000689502]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003474897]|not provided [RCV001567590] |
Chr1:53211043 [GRCh38]
Chr1:53676715 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000169371]|Carnitine palmitoyltransferase II deficiency [RCV001850399] |
Chr1:53211022 [GRCh38]
Chr1:53676694 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.3(CPT2):c.38del (p.Gly13fs) |
deletion |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000169434]|Carnitine palmitoyltransferase II deficiency [RCV002515200] |
Chr1:53196978 [GRCh38]
Chr1:53662650 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003454460]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003454461]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003454459]|Carnitine palmitoyltransferase II deficiency [RCV001345861]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456006]|not provided [RCV000178038] |
Chr1:53210261 [GRCh38]
Chr1:53675933 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| Single allele |
indel |
not provided [RCV000178039] |
Chr1:53675880..53675904 [GRCh37] |
uncertain significance |
| NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001810398]|Carnitine palmitoyltransferase II deficiency [RCV000202478]|not provided [RCV000178040]|not specified [RCV000430397] |
Chr1:53211016 [GRCh38]
Chr1:53676688 [GRCh37]
Chr1:1p32.3 |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other|not provided |
| NM_000098.3(CPT2):c.674G>A (p.Arg225His) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV001563785]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV001563784]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001563783]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002478590]|Carnitine palmitoyltransferase II deficiency [RCV001852205]|not provided [RCV000178041] |
Chr1:53210348 [GRCh38]
Chr1:53676020 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV001056377]|not provided [RCV000178042] |
Chr1:53211134 [GRCh38]
Chr1:53676806 [GRCh37]
Chr1:1p32.3 |
pathogenic|uncertain significance |
| NM_000098.3(CPT2):c.1336G>A (p.Val446Ile) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000635372] |
Chr1:53211010 [GRCh38]
Chr1:53676682 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) |
single nucleotide variant |
CPT2-related disorder [RCV003917702]|Carnitine palmitoyltransferase II deficiency [RCV001080230]|not provided [RCV000711322]|not specified [RCV000185827] |
Chr1:53211272 [GRCh38]
Chr1:53676944 [GRCh37]
Chr1:1p32.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV001322809]|Inborn genetic diseases [RCV004020250]|not specified [RCV000185828] |
Chr1:53213582 [GRCh38]
Chr1:53679254 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_000098.2(CPT2):c.1789G>C (p.Val597Leu) |
single nucleotide variant |
not specified [RCV000185835] |
Chr1:53213407 [GRCh38]
Chr1:53679079 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) |
single nucleotide variant |
CPT2-related disorder [RCV003947559]|Carnitine palmitoyltransferase II deficiency [RCV001085585]|not provided [RCV000440638]|not specified [RCV001804920] |
Chr1:53210027 [GRCh38]
Chr1:53675699 [GRCh37]
Chr1:1p32.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.852C>T (p.Pro284=) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000404930] |
Chr1:53210526 [GRCh38]
Chr1:53676198 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.1158A>C (p.Glu386Asp) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000405294] |
Chr1:53210832 [GRCh38]
Chr1:53676504 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV000411770]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV000410924]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000409811]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001004158]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002500569]|Carnitine palmitoyltransferase II deficiency [RCV000707179]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003474939]|not provided [RCV000185829] |
Chr1:53210044 [GRCh38]
Chr1:53675716 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.2(CPT2):c.631C>A (p.Pro211Thr) |
single nucleotide variant |
not provided [RCV000185830] |
Chr1:53210305 [GRCh38]
Chr1:53675977 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) |
single nucleotide variant |
CPT2-related disorder [RCV003927721]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000674663]|Carnitine palmitoyltransferase II deficiency [RCV000796802]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003474940]|not provided [RCV001092683]|not specified [RCV003230439] |
Chr1:53210365 [GRCh38]
Chr1:53676037 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003454482]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003454483]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003454481]|Carnitine palmitoyltransferase II deficiency [RCV000635369]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003454484]|Inborn genetic diseases [RCV002516964]|not provided [RCV000656840] |
Chr1:53210722 [GRCh38]
Chr1:53676394 [GRCh37]
Chr1:1p32.3 |
likely pathogenic|uncertain significance |
| NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003454485]|Carnitine palmitoyltransferase II deficiency [RCV000778986]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003474941]|not provided [RCV003144149] |
Chr1:53211185 [GRCh38]
Chr1:53676857 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) |
single nucleotide variant |
CPT2-related disorder [RCV003927722]|Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003454487]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003454488]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003454486]|Carnitine palmitoyltransferase II deficiency [RCV000538455]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456007]|Inborn genetic diseases [RCV002516965]|not provided [RCV003736627]|not specified [RCV000594905] |
Chr1:53213381 [GRCh38]
Chr1:53679053 [GRCh37]
Chr1:1p32.3 |
pathogenic|benign|likely benign |
| NM_000098.3(CPT2):c.719C>T (p.Ala240Val) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV002609003] |
Chr1:53210393 [GRCh38]
Chr1:53676065 [GRCh37]
Chr1:1p32.3 |
likely pathogenic|uncertain significance |
| NM_000098.3(CPT2):c.1578T>C (p.Gly526=) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003449028]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003449029]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002487317]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003449027]|Carnitine palmitoyltransferase II deficiency [RCV000262532]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456066]|not provided [RCV001729515]|not specified [RCV000614451] |
Chr1:53211252 [GRCh38]
Chr1:53676924 [GRCh37]
Chr1:1p32.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000098.3(CPT2):c.588T>C (p.Pro196=) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003449025]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003449026]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003449024]|Carnitine palmitoyltransferase II deficiency [RCV000290783]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456065]|not specified [RCV000419277] |
Chr1:53210262 [GRCh38]
Chr1:53675934 [GRCh37]
Chr1:1p32.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_000098.3(CPT2):c.1608dup (p.Lys537fs) |
duplication |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000669311]|Carnitine palmitoyltransferase II deficiency [RCV001215229]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV004568523] |
Chr1:53211280..53211281 [GRCh38]
Chr1:53676952..53676953 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_000098.3(CPT2):c.401_404del (p.Phe134fs) |
deletion |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000670602] |
Chr1:53210073..53210076 [GRCh38]
Chr1:53675745..53675748 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_000098.3(CPT2):c.1508G>A (p.Arg503His) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000357481] |
Chr1:53211182 [GRCh38]
Chr1:53676854 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.3(CPT2):c.1952T>G (p.Leu651Ter) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000670407] |
Chr1:53213570 [GRCh38]
Chr1:53679242 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.1375C>T (p.Gln459Ter) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000670434] |
Chr1:53211049 [GRCh38]
Chr1:53676721 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_000098.3(CPT2):c.1383G>A (p.Leu461=) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV001503653] |
Chr1:53211057 [GRCh38]
Chr1:53676729 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_000098.3(CPT2):c.1335C>T (p.Cys445=) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000311919] |
Chr1:53211009 [GRCh38]
Chr1:53676681 [GRCh37]
Chr1:1p32.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000098.2(CPT2):c.-242G>C |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000273378] |
Chr1:53196702 [GRCh38]
Chr1:53662374 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.757A>G (p.Ile253Val) |
single nucleotide variant |
not specified [RCV000516342] |
Chr1:53210431 [GRCh38]
Chr1:53676103 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.2(CPT2):c.-285C>A |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000277039] |
Chr1:53196659 [GRCh38]
Chr1:53662331 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.2(CPT2):c.-461T>C |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000362496] |
Chr1:53196483 [GRCh38]
Chr1:53662155 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.2(CPT2):c.-477C>T |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000307837] |
Chr1:53196467 [GRCh38]
Chr1:53662139 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_000098.2(CPT2):c.-242G>A |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000368164]|not provided [RCV004710789] |
Chr1:53196702 [GRCh38]
Chr1:53662374 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000635374]|not provided [RCV001508866]|not specified [RCV000305853] |
Chr1:53210251 [GRCh38]
Chr1:53675923 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_000098.3(CPT2):c.-117G>T |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000260538] |
Chr1:53196827 [GRCh38]
Chr1:53662499 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.853G>A (p.Glu285Lys) |
single nucleotide variant |
CPT2-related disorder [RCV003967801]|Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003454830]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003454831]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002502152]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003454829]|Carnitine palmitoyltransferase II deficiency [RCV000813356]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456048]|not provided [RCV000310684] |
Chr1:53210527 [GRCh38]
Chr1:53676199 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_017887.3(CZIB):c.*462_*464dup |
duplication |
Carnitine palmitoyltransferase II deficiency [RCV000268466] |
Chr1:53214194..53214195 [GRCh38]
Chr1:53679866..53679867 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.1559C>T (p.Pro520Leu) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003454818]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003454819]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003454817]|Carnitine palmitoyltransferase II deficiency [RCV001096808]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456047]|not provided [RCV000333706] |
Chr1:53211233 [GRCh38]
Chr1:53676905 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.1712C>G (p.Pro571Arg) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, neonatal form [RCV002283688] |
Chr1:53213330 [GRCh38]
Chr1:53679002 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.683A>G (p.Lys228Arg) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000345825] |
Chr1:53210357 [GRCh38]
Chr1:53676029 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.-101C>A |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000315815] |
Chr1:53196843 [GRCh38]
Chr1:53662515 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003449474]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003449475]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000669097]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV000763960]|Carnitine palmitoyltransferase II deficiency [RCV000635370]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456084]|Inborn genetic diseases [RCV004023502]|not provided [RCV003488648]|not specified [RCV000517111] |
Chr1:53211112 [GRCh38]
Chr1:53676784 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.2(CPT2):c.-229G>T |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000319362] |
Chr1:53196715 [GRCh38]
Chr1:53662387 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.388A>C (p.Asn130His) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000284790] |
Chr1:53210062 [GRCh38]
Chr1:53675734 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_017887.3(CZIB):c.*453A>G |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000354722]|not provided [RCV004715129] |
Chr1:53214206 [GRCh38]
Chr1:53679878 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_000098.3(CPT2):c.1839G>T (p.Gly613=) |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000551928] |
Chr1:53213457 [GRCh38]
Chr1:53679129 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_000098.3(CPT2):c.236A>C (p.Lys79Thr) |
single nucleotide variant |
CPT2-related disorder [RCV003403273]|Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003451158]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003451159]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV001449651]|Carnitine palmitoyltransferase II deficiency [RCV000530003]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003456089]|Genu valgum [RCV000626610]|Inborn genetic diseases [RCV004023832]|not provided [RCV001571245] |
Chr1:53202325 [GRCh38]
Chr1:53667997 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.*439T>C |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000353884] |
Chr1:53214034 [GRCh38]
Chr1:53679706 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.2(CPT2):c.-216A>G |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000373970] |
Chr1:53196728 [GRCh38]
Chr1:53662400 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.2(CPT2):c.-282C>T |
single nucleotide variant |
Carnitine palmitoyl transferase II deficiency, myopathic form [RCV003445911]|Carnitine palmitoyl transferase II deficiency, neonatal form [RCV003445912]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV002487316]|Carnitine palmitoyl transferase II deficiency, severe infantile form [RCV003445910]|Carnitine palmitoyltransferase II deficiency [RCV000313432]|Encephalopathy, acute, infection-induced, susceptibility to, 4 [RCV003445913] |
Chr1:53196662 [GRCh38]
Chr1:53662334 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_000098.3(CPT2):c.152+3G>A |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000379295] |
Chr1:53197098 [GRCh38]
Chr1:53662770 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_017887.3(CZIB):c.*457C>A |
single nucleotide variant |
Carnitine palmitoyltransferase II deficiency [RCV000299911] |
Chr1:53214202 [GRCh38]
Chr1:53679874 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_000098.3( |
