NM_001330589.2:c.1697C>T NM_000098.3:c.1766C>T NG_008035.1:g.21956C>T NC_000001.11:g.53213384C>T
NC_000001.10:g.53679056C>T NP_001317518.1:p.Thr566Met NP_000089.1:p.Thr589Met More...
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12/18/2019 |
missense variant |
uncertain significance |
Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR; Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, late-onset; Carnitine palmitoyltransferase II deficiency, lethal neonatal; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL; CPT II DEFICIENCY, HEPATIC; CPT II deficiency, infantile; CPT II DEFICIENCY, LETHAL NEONATAL; CPT II DEFICIENCY, MYOPATHIC; CPT II deficiency, myopathic, stress-induced; CPT2 DEFICIENCY, INFANTILE; CPT2 DEFICIENCY, LATE-ONSET; CPT2 DEFICIENCY, LETHAL NEONATAL; Encephalopathy, acute, infection-induced, susceptibility to, 4; Kidney damage; Muscle disorders; none provided; Rhabdomyolysis; Rhabdomyolysis (disease) |