CPT2 — 1054 ClinVar variants

Pathogenic 76

• p.Arg151Trp Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form
• p.Arg631Cys Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Gln33fs Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Gln581Ter Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Gln68Ter Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Glu487Ter Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form
• p.Leu178_Pro180delinsPhe Multiple submitters Acute rhabdomyolysis
• p.Leu556fs Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form
• p.Phe516fs Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Pro571Thr Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Thr425fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Thr482fs Multiple submitters carnitine palmitoyltransferase II deficiency
• c.1152_1153insSVAelement Single submitter carnitine palmitoyltransferase II deficiency
• c.1444_1645+364del Single submitter carnitine palmitoyltransferase II deficiency
• c.1645+2T>C Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala101fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala15fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala181_Ile186del Single submitter Acute rhabdomyolysis
• p.Ala465fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala603_Phe610del Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala643fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg241Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg518fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg63Ile Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg8fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn250fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp363fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp435Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp608Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln270Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln468Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln478_Tyr479insTer Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Gln481Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu432fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu454Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly249Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly451fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly600Arg Single submitter carnitine palmitoyltransferase II deficiency
• p.His108fs Single submitter carnitine palmitoyltransferase II deficiency
• p.His555Gln Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile186fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile263_Val264insTer Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile263fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu277_Ser278insTer Single submitter
• p.Leu327_Asp328delinsHisHis Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu415fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu72Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys107fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys305fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys453fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys69fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Met214fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe330fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe384fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro196fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro227fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro399fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro55fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro629fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser22fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser267fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser267Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Thr80fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Trp201Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Trp299Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr205fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr252fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr34Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr45Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr538fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr579Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Val100fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Val16fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Val175fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Val322fs Single submitter carnitine palmitoyltransferase II deficiency
• c.234-1G>A No assertion criteria carnitine palmitoyl transferase II deficiency, neonatal form

Pathogenic/Likely pathogenic 55

• c.340+1G>C Multiple submitters CPT2-related disorder
• c.341-2A>G Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Ala643_Leu644insTer Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Arg124Ter Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Arg151Gln Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Arg296Ter Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Arg303fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Arg382fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Arg450Ter Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Arg503Cys Multiple submitters CPT2-related disorder
• p.Arg554Ter Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Asn349fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Asp213Gly Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Asp279fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Asp576fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Cys326fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Gln216Ter Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Gln447Ter Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Gln449Ter Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Gln472Ter Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Glu174Ter Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Glu285fs Multiple submitters Acute rhabdomyolysis
• p.His523fs Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Ile502Thr Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form
• p.Leu199fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Leu592fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Leu72fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Lys414fs Multiple submitters Acute rhabdomyolysis
• p.Lys457Ter Multiple submitters Inborn genetic diseases
• p.Lys510fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Lys537fs Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Phe117fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Phe383Tyr Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Phe602fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Pro211fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Pro227Leu Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Pro504Leu Multiple submitters Autosomal recessive CPT2-related disorders
• p.Pro50His Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Pro595fs Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Ser113Leu Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Ser26fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Ser38fs Multiple submitters Inborn genetic diseases
• p.Ser408fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Ser590fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Ser86fs Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Thr224fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Thr442fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Trp10Ter Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Trp116Ter Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form
• p.Tyr120Cys Multiple submitters CPT2-related disorder
• p.Tyr479Cys Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Tyr479Ter Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Tyr628Ser Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Val605Leu Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Val606fs Multiple submitters carnitine palmitoyltransferase II deficiency

Likely pathogenic 69

• c.340+5G>A Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Ala67Gly Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Asn341fs Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Asp553Asn Multiple submitters carnitine palmitoyltransferase II deficiency
• p.His242fs Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Leu575fs Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Val466fs Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• c.152+1G>T Single submitter carnitine palmitoyltransferase II deficiency
• c.1642_1645+1dup Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-2A>T Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form
• c.340+1G>A Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala168fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala367fs Single submitter
• p.Arg124Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg296Gly Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg51fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg63Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn357Ter Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Asn416fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Asn585fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp213Ala Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp297fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp328Gly Single submitter carnitine palmitoyltransferase II deficiency
• p.Cys639fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln36fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Gln400fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Gln529Ter Single submitter
• p.Glu454fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu487fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Gly13fs Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Gly345Arg Single submitter carnitine palmitoyl transferase II deficiency, neonatal form
• p.Gly526fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Gly600Glu Single submitter carnitine palmitoyltransferase II deficiency
• p.His344fs Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Ile332fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Leu212fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu25fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys431fs Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Lys495fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Met532fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe254fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe557fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro50fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro50Ser Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser627fs Single submitter
• p.Thr187fs Single submitter carnitine palmitoyltransferase II deficiency
• p.Thr428fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Thr437delinsLysValTer Single submitter carnitine palmitoyltransferase II deficiency
• p.Trp374fs Single submitter
• p.Trp374Ter Single submitter
• p.Trp620Ter Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Tyr202Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr205Ter Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr290Ter Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Tyr614fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Tyr64Ter Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Val245Phe Single submitter carnitine palmitoyltransferase II deficiency
• p.Val483fs Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4
• c.1645+2T>G No assertion criteria carnitine palmitoyl transferase II deficiency, myopathic form
• p.Arg522fs No assertion criteria carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Gln459Ter No assertion criteria carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Gln478Ter No assertion criteria carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Glu645fs No assertion criteria carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Glu81fs No assertion criteria carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Gly32fs No assertion criteria carnitine palmitoyl transferase II deficiency, myopathic form
• p.Phe134fs No assertion criteria carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Ser293fs No assertion criteria carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Trp351Ter No assertion criteria carnitine palmitoyl transferase II deficiency, myopathic form
• p.Tyr538Ter No assertion criteria carnitine palmitoyl transferase II deficiency, severe infantile form

Conflicting classifications of pathogenicity 75

• c.152+5G>A Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form
• c.1645+15G>T Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-2A>G Single submitter carnitine palmitoyl transferase II deficiency, neonatal form
• c.341-16T>C Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala474= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala492= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala493Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg124Pro Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg161Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg161Trp Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Arg167Gln Single submitter Inborn genetic diseases ⚠
• p.Arg193Cys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg225His Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Arg231Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg231Trp Single submitter Inborn genetic diseases ⚠
• p.Arg241Gly Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg296Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg296Pro Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg477Trp Single submitter encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Arg498His Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Arg560Trp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg631His Single submitter Inborn genetic diseases ⚠
• p.Asn154Ser Single submitter ⚠
• p.Asn311Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asn416Ser Single submitter Inborn genetic diseases ⚠
• p.Asn73Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp118Gly Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp255Gly Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Asp329Tyr Single submitter Inborn genetic diseases ⚠
• p.Asp608His Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Cys445= Single submitter carnitine palmitoyltransferase II deficiency
• p.Cys623_Gly630del Single submitter carnitine palmitoyltransferase II deficiency
• p.Cys84Tyr Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Gln304His Single submitter Inborn genetic diseases ⚠
• p.Gln468= Single submitter carnitine palmitoyl transferase II deficiency, neonatal form
• p.Glu174Lys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu487Ala Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu487Lys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu534= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu545Ala Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly452Ser Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Gly549Asp Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.His372Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.His584Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu178_Ile186delinsPhe Single submitter CPT2-related disorder
• p.Leu212= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys107= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys458Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Lys79Thr Single submitter CPT2-related disorder ⚠
• p.Met307_Ser308delinsIle Single submitter carnitine palmitoyltransferase II deficiency
• p.Met342Thr Single submitter Inborn genetic diseases ⚠
• p.Met647Ile Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe516Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe602= Single submitter carnitine palmitoyl transferase II deficiency, neonatal form
• p.Phe648Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro211Ser Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Pro282= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro284= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro55Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro604Ser Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ser122Phe Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ser293Gly Single submitter Inborn genetic diseases ⚠
• p.Ser401Ile Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser590Asn Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser655Tyr Single submitter Inborn genetic diseases ⚠
• p.Thr150Ala Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Thr411= Single submitter carnitine palmitoyltransferase II deficiency
• p.Thr420Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Tyr111= Single submitter carnitine palmitoyltransferase II deficiency
• p.Tyr479Phe Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Tyr579= Single submitter carnitine palmitoyltransferase II deficiency
• p.Val397Ile Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Val410Ala Single submitter Inborn genetic diseases ⚠
• p.Val507Ile Single submitter Inborn genetic diseases ⚠
• p.Val533Ala Single submitter carnitine palmitoyltransferase II deficiency ⚠

Benign 12

• c.152+56C>A Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• c.340+120C>T Multiple submitters
• c.340+122T>A Multiple submitters
• c.341-155T>C Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form
• p.Leu171= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Val368Ile Multiple submitters carnitine palmitoyltransferase II deficiency
• c.153-283T>C Single submitter
• c.1645+292_1645+299del Single submitter
• c.340+121G>A Single submitter
• c.341-10dup Single submitter carnitine palmitoyltransferase II deficiency
• c.*22A>T Single submitter
• c.*75T>C Single submitter

Benign/Likely benign 7

• p.Ala101Val Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Ala515= Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form
• p.Gly526= Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.His617= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Phe352Cys Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Ser588Cys Multiple submitters Inborn genetic diseases
• p.Thr589= Multiple submitters carnitine palmitoyltransferase II deficiency

Likely benign 367

Showing the top 300 by review status; the full set is in the sitemap.

• c.1645+14G>T Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form
• c.1646-11G>A Multiple submitters
• c.340+18T>A Multiple submitters carnitine palmitoyltransferase II deficiency
• c.340+20G>A Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Ala430= Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form
• p.Ala67= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Arg151= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Arg503= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Asn349= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Asn585= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Asp421= Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Asp464= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Asp74= Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Cys512= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Gly580Arg Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.His372= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Ile360= Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Leu35= Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Leu5= Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Leu592= Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4
• p.Phe417= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Ser126= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Ser308= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Ser506= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Thr156= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Tyr202= Multiple submitters carnitine palmitoyltransferase II deficiency
• p.Tyr290= Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form
• p.Tyr45= Multiple submitters carnitine palmitoyltransferase II deficiency
• c.152+11C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.152+12C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.152+13T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.152+15C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.152+182C>T Single submitter
• c.152+7C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.153-10T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.153-11T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.153-16C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.153-20T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.153-4C>G Single submitter carnitine palmitoyltransferase II deficiency
• c.153-5C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.1645+10G>A Single submitter carnitine palmitoyltransferase II deficiency
• c.1645+128A>C Single submitter
• c.1645+12G>T Single submitter carnitine palmitoyltransferase II deficiency
• c.1645+20C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.1645+212G>A Single submitter
• c.1645+299dup Single submitter
• c.1645+6dup Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-13T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-14T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-4A>G Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-5C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-7C>A Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-9T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.1646-9T>G Single submitter carnitine palmitoyltransferase II deficiency
• c.233+13A>G Single submitter carnitine palmitoyltransferase II deficiency
• c.233+15C>A Single submitter carnitine palmitoyltransferase II deficiency
• c.233+17T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.233+18T>G Single submitter carnitine palmitoyltransferase II deficiency
• c.233+20G>A Single submitter carnitine palmitoyltransferase II deficiency
• c.233+20G>C Single submitter carnitine palmitoyltransferase II deficiency
• c.233+7A>G Single submitter carnitine palmitoyltransferase II deficiency
• c.233+9T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.234-11G>T Single submitter carnitine palmitoyltransferase II deficiency
• c.234-13T>A Single submitter carnitine palmitoyltransferase II deficiency
• c.234-16T>G Single submitter carnitine palmitoyltransferase II deficiency
• c.234-19C>A Single submitter carnitine palmitoyltransferase II deficiency
• c.234-21_234-17del Single submitter carnitine palmitoyltransferase II deficiency
• c.234-6T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.234-7G>A Single submitter carnitine palmitoyltransferase II deficiency
• c.234-7G>C Single submitter carnitine palmitoyltransferase II deficiency
• c.340+10C>G Single submitter carnitine palmitoyltransferase II deficiency
• c.340+13G>A Single submitter carnitine palmitoyltransferase II deficiency
• c.340+16dup Single submitter carnitine palmitoyltransferase II deficiency
• c.340+17G>A Single submitter carnitine palmitoyltransferase II deficiency
• c.340+18T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.340+20G>T Single submitter carnitine palmitoyltransferase II deficiency
• c.340+7A>G Single submitter carnitine palmitoyltransferase II deficiency
• c.340+8G>A Single submitter carnitine palmitoyltransferase II deficiency
• c.340+9G>C Single submitter carnitine palmitoyltransferase II deficiency
• c.340+9G>T Single submitter carnitine palmitoyltransferase II deficiency
• c.341-16dup Single submitter
• c.341-17T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.341-4T>G Single submitter carnitine palmitoyltransferase II deficiency
• c.341-7T>A Single submitter carnitine palmitoyltransferase II deficiency
• c.341-7T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.341-8T>A Single submitter carnitine palmitoyltransferase II deficiency
• c.341-8T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.341-9A>C Single submitter carnitine palmitoyltransferase II deficiency
• c.341-9del Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala136Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala15= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala168= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala20= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala204= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala209= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala271= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala283= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala289= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala321= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala367= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala379= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala396= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala404= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala467= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala505= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala547= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala558= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala596= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg12= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg124= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg219= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg23= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg231= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg241= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg296= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg303= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg37= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg450= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg511= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg522= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg554= Single submitter carnitine palmitoyltransferase II deficiency
• p.Arg634= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn138= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn179= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn208= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn262= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn311= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn357= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn385= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn416= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn583= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn619= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn624= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn632= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asn89= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp118= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp147= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp237= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp238= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp279= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp297= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp319= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp353= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp363= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp376= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp390= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp576= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp59= Single submitter carnitine palmitoyltransferase II deficiency
• p.Asp618= Single submitter carnitine palmitoyltransferase II deficiency
• p.Cys326= Single submitter carnitine palmitoyltransferase II deficiency
• p.Cys623= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln148= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln216= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln259= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln270= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln36= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln400= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln402= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln447= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln472= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln478= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln530= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln550= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln638= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln68= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gln82= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu144= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu301= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu312= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu313= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu454= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu519= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu527= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu58= Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu635= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly13= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly169= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly19= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly249= Single submitter
• p.Gly261= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly28= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly30= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly310= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly345= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly347= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly364= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly426= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly451= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly497= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly551= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly567= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly580= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly600= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly613= Single submitter carnitine palmitoyltransferase II deficiency
• p.Gly90= Single submitter carnitine palmitoyltransferase II deficiency
• p.His108= Single submitter carnitine palmitoyltransferase II deficiency
• p.His177= Single submitter carnitine palmitoyltransferase II deficiency
• p.His242= Single submitter carnitine palmitoyltransferase II deficiency
• p.His272= Single submitter carnitine palmitoyltransferase II deficiency
• p.His337= Single submitter carnitine palmitoyltransferase II deficiency
• p.His340= Single submitter carnitine palmitoyltransferase II deficiency
• p.His344= Single submitter carnitine palmitoyltransferase II deficiency
• p.His496= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile186= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile253= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile332= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile359= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile443= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ile502= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu121= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu129= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu149= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu163= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu178= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu191= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu199= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu226= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu243= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu246= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu25= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu257= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu273= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu277= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu291= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu302= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu315= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu325= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu335= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu338= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu343= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu358= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu381= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu415= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu419= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu423= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu441= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu456= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu461= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu476= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu49= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu542= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu559= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu575= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu599= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu651= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu7= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu71= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu95= Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu99= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys239= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys274= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys317= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys414= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys424= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys433= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys458= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys460= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys495= Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys537= Single submitter carnitine palmitoyltransferase II deficiency
• p.Met647Val Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe131= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe137= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe162= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe188= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe235= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe370= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe494= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe516= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe557= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe610= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe648= Single submitter carnitine palmitoyltransferase II deficiency
• p.Phe83= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro11= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro115= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro133= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro14= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro173= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro18= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro196= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro211= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro227= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro24= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro287= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro3= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro31= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro331= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro403= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro41= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro463= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro504= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro53= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro55= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro571= Single submitter carnitine palmitoyltransferase II deficiency
• p.Pro604= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser122= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser158= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser198= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser200= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser22= Single submitter carnitine palmitoyltransferase II deficiency
• p.Ser22Cys Single submitter Inborn genetic diseases

Uncertain significance 393

Showing the top 300 by review status; the full set is in the sitemap.

• c.1645+7C>T Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• c.-282C>T Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Ala123Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala152Gly Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Ala204Val Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Ala209Val Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ala361Thr Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Ala465Thr Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Ala470Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala470Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala484Gly Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Ala633Ser Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Arg167Trp Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Arg193His Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Arg219Gln Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Arg225Cys Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Arg247Trp Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Arg350Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg350Gly Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Arg350His Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Arg382Thr Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Arg477Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg498Cys Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Arg503His Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Arg554Gln Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Arg560Gln Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Arg634Gln Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Arg634Trp Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Arg63Lys Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Asn208Ser Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Asn222Ser Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Asn632Asp Multiple submitters Inborn genetic diseases ⚠
• p.Asn632Ser Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Asp435Ala Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Asp646Asn Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Cys326Tyr Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Cys445Arg Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Cys512Tyr Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Cys535Arg Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Gln33His Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Gln459Leu Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Gln468His Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Glu174Gln Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Glu285Lys Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Glu301Asp Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Glu652Lys Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Gly13del Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form
• p.Gly375Val Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Gly480Arg Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Gly497Ser Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Gly601Val Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Gly622Asp Multiple submitters Inborn genetic diseases ⚠
• p.His177Gln Multiple submitters Inborn genetic diseases ⚠
• p.His372Leu Multiple submitters carnitine palmitoyltransferase II deficiency
• p.His44Tyr Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.His584Gln Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.His617Arg Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.His617Tyr Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ile263Met Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ile276Thr Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Ile360Thr Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Leu206Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu243Phe Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Leu556Val Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Lys274Arg Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Met307Ile Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Met438Lys Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Met438Thr Multiple submitters Inborn genetic diseases ⚠
• p.Met438Val Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Met531Leu Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Met647Thr Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Phe455Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Phe475Tyr Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Pro115Ser Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Pro139Arg Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Pro18Leu Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Pro196Leu Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Pro21His Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Pro284Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro41Leu Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Pro520Leu Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Pro629Leu Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ser113= Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form
• p.Ser126Cys Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ser22Asn Multiple submitters Inborn genetic diseases ⚠
• p.Ser267Leu Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ser278Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ser293Ile Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Ser29Ala Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Ser339Phe Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Ser513Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Ser658Arg Multiple submitters Inborn genetic diseases ⚠
• p.Thr236Ile Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Thr405Ile Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Thr411Met Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Thr589Met Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Trp620Arg Multiple submitters Inborn genetic diseases ⚠
• p.Tyr202Cys Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Tyr252Cys Multiple submitters carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Tyr508Cys Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Val127Ile Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Val157Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val207Ile Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Val318Gly Multiple submitters encephalopathy, acute, infection-induced, susceptibility to, 4 ⚠
• p.Val410Ile Multiple submitters carnitine palmitoyltransferase II deficiency ⚠
• p.Val446Ile Multiple submitters carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Val466Ala Multiple submitters carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Val483Ala Multiple submitters Inborn genetic diseases ⚠
• c.152+3G>A Single submitter carnitine palmitoyltransferase II deficiency
• c.340+5_340+14del Single submitter carnitine palmitoyltransferase II deficiency
• c.340+6T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.-101C>A Single submitter carnitine palmitoyltransferase II deficiency
• c.-117G>T Single submitter carnitine palmitoyltransferase II deficiency
• c.*142T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.*223A>C Single submitter carnitine palmitoyltransferase II deficiency
• c.*361T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.*439T>C Single submitter carnitine palmitoyltransferase II deficiency
• c.*55C>T Single submitter carnitine palmitoyltransferase II deficiency
• c.*81C>T Single submitter carnitine palmitoyltransferase II deficiency
• p.Ala136Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala152Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala20Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala240Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala283Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala422Val Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ala430Gly Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala492Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala546Glu Single submitter Inborn genetic diseases ⚠
• p.Ala558Ser Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Ala564Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala596Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala633Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ala9Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg12Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg12Trp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg193Gly Single submitter Inborn genetic diseases ⚠
• p.Arg219Trp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg23Gly Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg23Trp Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Arg316Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg37Cys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg4= Single submitter
• p.Arg498Leu Single submitter ⚠
• p.Arg4Cys Single submitter ⚠
• p.Arg51Met Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Arg522Gly Single submitter Inborn genetic diseases ⚠
• p.Asn130His Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asn138Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asn146Asp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asn146Thr Single submitter ⚠
• p.Asn222Ile Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asn222Lys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asn583Lys Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Asn624Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp184Glu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp237Asn Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Asp237Gly Single submitter Inborn genetic diseases ⚠
• p.Asp238Val Single submitter Inborn genetic diseases ⚠
• p.Asp255His Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp255Tyr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp255Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp279Asn Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp319His Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp328Glu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Asp376Asn Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Asp376Gly Single submitter ⚠
• p.Asp407Asn Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Cys535Tyr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Cys84Trp Single submitter ⚠
• p.Gln105Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gln148Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gln148His Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gln270Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gln393Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gln413Lys Single submitter Inborn genetic diseases ⚠
• p.Gln529Pro Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gln541His Single submitter Inborn genetic diseases ⚠
• p.Gln82Glu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu144Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu233Gly Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu294Lys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu386Ala Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu386Asp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu418Lys Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Glu432Lys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu519Lys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu534Asp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu545del Single submitter carnitine palmitoyltransferase II deficiency
• p.Glu545Lys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu572Gly Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Glu58Gln Single submitter Inborn genetic diseases ⚠
• p.Glu81Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly17Cys Single submitter ⚠
• p.Gly19Ala Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Gly19Glu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly203Ala Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly28Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly30Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly30Glu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly30Trp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly345Trp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly375Asp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly375Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly377Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly451Arg Single submitter Inborn genetic diseases ⚠
• p.Gly526Ala Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Gly551Arg Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Gly551Ser Single submitter Inborn genetic diseases ⚠
• p.Gly567Trp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly601Asp Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly609Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly613Ala Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Gly613Glu Single submitter ⚠
• p.Gly90Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.His242Tyr Single submitter ⚠
• p.His44_Tyr45delinsProHis Single submitter carnitine palmitoyltransferase II deficiency
• p.His44Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.His584Tyr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ile186Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ile192Val Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ile253Val Single submitter ⚠
• p.Ile263Leu Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Ile263Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ile269Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ile332Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ile443Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ile54Val Single submitter ⚠
• p.Ile568Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ile621Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ile621Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu170Arg Single submitter Inborn genetic diseases ⚠
• p.Leu212Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu234Pro Single submitter ⚠
• p.Leu244del Single submitter carnitine palmitoyltransferase II deficiency
• p.Leu25Pro Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu277Val Single submitter ⚠
• p.Leu338Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu358Arg Single submitter ⚠
• p.Leu415Phe Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu441Arg Single submitter Inborn genetic diseases ⚠
• p.Leu441Phe Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu52Pro Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu57Pro Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Leu95Pro Single submitter ⚠
• p.Lys228Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Lys354Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Lys495Glu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Lys510Glu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Lys537Glu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Lys642del Single submitter carnitine palmitoyltransferase II deficiency
• p.Lys85Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Met307Leu Single submitter carnitine palmitoyl transferase II deficiency, severe infantile form ⚠
• p.Met43Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Met531Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Met548Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe131Leu Single submitter Inborn genetic diseases ⚠
• p.Phe137Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe218Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe221Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe235Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe251Val Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe330Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe352Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe352Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe417Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Phe557Tyr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro115Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro133Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro14Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro173Ser Single submitter ⚠
• p.Pro180Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro229Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro266Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro284Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro31Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro331Ala Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro3Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro41His Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro520His Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro55Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro571Arg Single submitter carnitine palmitoyl transferase II deficiency, neonatal form ⚠
• p.Pro595Ser Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Pro604Leu Single submitter ⚠
• p.Pro629Gln Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser200Cys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser22Ile Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser230Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser265Asn Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser267Pro Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser280Thr Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser293Asn Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser29Cys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser309Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser309Gly Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser314Arg Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser320Leu Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser355Cys Single submitter carnitine palmitoyltransferase II deficiency ⚠
• p.Ser365Phe Single submitter Inborn genetic diseases ⚠
• p.Ser401Arg Single submitter carnitine palmitoyl transferase II deficiency, myopathic form ⚠
• p.Ser488Pro Single submitter Inborn genetic diseases ⚠