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Links from MedGen

Items: 1 to 100 of 156

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2
(R477Q)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GUncertain significance
CPT2
(Y508C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+5 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)
not provided
+5 more
GUncertain significance
CPT2
Deletion
(inframe_indel)
Carnitine palmitoyl transferase II deficiency, myopathic form
GPathogenic
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GLikely benign
CPT2
Single nucleotide variant
(intron variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely benign
CPT2
(E174Q)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2
(Q459L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(G375V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+5 more
GUncertain significance
CPT2
(C512Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+5 more
GUncertain significance
CPT2
(M438T)
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)
not provided
+6 more
GConflicting classifications of pathogenicity
CPT2
(S126C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(R382T)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(P581S +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GConflicting classifications of pathogenicity
CPT2
(A204V)
Single nucleotide variant
(missense variant)
CPT2-related condition
+6 more
GUncertain significance
CPT2
(R350G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2, LOC129930561
(P41L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+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)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
not provided
+5 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, myopathic form
+4 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GLikely benign
CPT2
(P55R)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GUncertain significance
CPT2
(N208S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GUncertain significance
CPT2, LOC129930561
(P18L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(F475Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(R225C)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
CPT2
(R498C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
Single nucleotide variant
(intron variant)
CPT2-related condition
+6 more
GConflicting classifications of pathogenicity
CPT2
(R498H)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(H594R +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(R63K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(R611Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
CPT2
(R611W +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GUncertain significance
CPT2, LOC129930561
(S22N)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(G497S)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(R296Q)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GConflicting classifications of pathogenicity
CPT2
(V127I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GUncertain significance
CPT2
(S339F)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GUncertain significance
CPT2
(V397I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+6 more
GUncertain significance
CPT2
(V583fs +1 more)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic
CPT2
(M438V)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GUncertain significance
CPT2
(A209V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(T566M +1 more)
Single nucleotide variant
(missense variant)
Rhabdomyolysis
+7 more
GUncertain significance
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GLikely benign
LOC129930561, CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
CPT2-related condition
+6 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GLikely benign
CPT2
(R193H)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+5 more
GUncertain significance
CPT2
(A610S +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GUncertain significance
CPT2
(L533fs +1 more)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(R219Q)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(R167W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(R631H +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(T442fs)
Deletion
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GLikely pathogenic
CPT2, LOC129930561
(H44Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+6 more
GUncertain significance
CPT2
(I263M)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(R350H)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(R477W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(V466A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CPT2
(P629L +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+6 more
GUncertain significance
CPT2
(V410I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+6 more
GUncertain significance
CPT2
(S267L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(C535R)
Single nucleotide variant
(missense variant +1 more)
Carnitine palmitoyl transferase II deficiency, myopathic form
+4 more
GUncertain significance
CPT2
(I332fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GPathogenic/Likely pathogenic
CPT2, LOC129930561
(G13del)
Deletion
(inframe_deletion)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2, LOC129930561
(P21H)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2, LOC129930561
(Q33H)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(E487K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+3 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
Deletion
(inframe_deletion)
Carnitine palmitoyltransferase II deficiency
+4 more
GConflicting classifications of pathogenicity
CPT2
(R247W)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+3 more
GUncertain significance
CPT2
(Q468H)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
(S293G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
CPT2
(D646N +1 more)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GUncertain significance
CPT2
(A493T)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+6 more
GConflicting classifications of pathogenicity
CPT2
(V483A)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+6 more
GUncertain significance
CPT2
Single nucleotide variant
(synonymous variant)
CPT2-related condition
+5 more
GBenign/Likely benign
CPT2
(R167Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GLikely benign
CPT2
Single nucleotide variant
(intron variant)
not specified
+5 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+5 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+7 more
GBenign/Likely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GLikely benign
CPT2, LOC129930561
(Q33fs)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic
CPT2
(S278L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2
(P139R)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2
(K79T)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+13 more
GUncertain significance
CPT2
(S658R +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
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