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Links from MedGen

Items: 1 to 100 of 226

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2
(A535S +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(G551R +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
Single nucleotide variant
(splice acceptor variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GLikely pathogenic
CPT2
(G526A)
Single nucleotide variant
(missense variant +1 more)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(V507L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(K431fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GLikely pathogenic
CPT2
(A422V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(E418K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(T409I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(T405I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(D376N)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(H344fs)
Duplication
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GLikely pathogenic
CPT2
(M307L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(Y290*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GLikely pathogenic
CPT2
(I263L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(D237N)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(I192V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2, LOC129930561
(R23W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
LOC129930561, CPT2
(G19A)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+3 more
GUncertain significance
CPT2
(P211S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CPT2, LOC129930561
(S22fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+3 more
GPathogenic/Likely pathogenic
CPT2
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GLikely pathogenic
CPT2
(P115S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GUncertain significance
CPT2
(Y202C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GUncertain significance
CPT2
(I276T)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GUncertain significance
CPT2
(H594Y +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GUncertain significance
CPT2
(R477Q)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+6 more
GUncertain significance
CPT2
(F602fs +1 more)
Deletion
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GPathogenic/Likely pathogenic
CPT2
(Y508C)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GUncertain significance
CPT2
(M531L)
Single nucleotide variant
(missense variant +1 more)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2, LOC129930561
(P50fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+2 more
GLikely pathogenic
CPT2
(R63*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase II deficiency, neonatal form
+2 more
GLikely pathogenic
CPT2, LOC129930561
(R51fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+2 more
GLikely pathogenic
CPT2
(S401R)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
GUncertain significance
CPT2
(S567N +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GUncertain significance
CPT2
Deletion
(inframe_indel)
Carnitine palmitoyl transferase II deficiency, myopathic form
GPathogenic
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely benign
CPT2
Single nucleotide variant
(intron variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GConflicting classifications of pathogenicity
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GLikely benign
CPT2, LOC129930561
(S29A)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(E174Q)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(Q447*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyltransferase II deficiency
+4 more
GPathogenic/Likely pathogenic
CPT2
(Q459L)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(G375V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
CPT2
(E301D)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(C512Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(M438T)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+5 more
GUncertain significance
CPT2
(A484G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2
(D585H +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+6 more
GConflicting classifications of pathogenicity
CPT2
(S126C)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(G601V +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(R382T)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(N222S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(P581S +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GConflicting classifications of pathogenicity
CPT2
(R151W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GPathogenic
CPT2
(V207I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(A152G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(A204V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+6 more
GUncertain significance
CPT2
(R350G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+5 more
GUncertain significance
LOC129930561, CPT2
(P41L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(E629K +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GUncertain significance
CPT2
Single nucleotide variant
(synonymous variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GLikely benign
CPT2
(N73S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+2 more
GConflicting classifications of pathogenicity
CPT2
Single nucleotide variant
(synonymous variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GConflicting classifications of pathogenicity
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely benign
CPT2
(R531* +1 more)
Single nucleotide variant
(nonsense)
Carnitine palmitoyltransferase II deficiency
+4 more
GPathogenic/Likely pathogenic
CPT2, LOC129930561
(W10*)
Insertion
(nonsense)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GPathogenic/Likely pathogenic
CPT2
(Y479C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely pathogenic
CPT2
(R531Q +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(P55R)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(N208S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CPT2, LOC129930561
(P18L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+5 more
GUncertain significance
CPT2
(F475Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2
(R225C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GUncertain significance
CPT2
(R498C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
CPT2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+5 more
GUncertain significance
CPT2
(R498H)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GUncertain significance
CPT2
(H594R +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(R63K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+5 more
GUncertain significance
CPT2
(R611Q +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+5 more
GUncertain significance
CPT2
(R611W +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2
(H584Q +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2, LOC129930561
(S22N)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(G497S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GUncertain significance
CPT2
(L243F)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(R296Q)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+5 more
GConflicting classifications of pathogenicity
CPT2
(H372R)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GConflicting classifications of pathogenicity
CPT2
Single nucleotide variant
(synonymous variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GConflicting classifications of pathogenicity
CPT2
(V127I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CPT2
(S339F)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GUncertain significance
CPT2
(V397I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
CPT2
(V583fs +1 more)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GPathogenic/Likely pathogenic
CPT2
Single nucleotide variant
(splice acceptor variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GPathogenic/Likely pathogenic
CPT2
(M438V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GUncertain significance
CPT2
(M438K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(R241G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GConflicting classifications of pathogenicity
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