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Links from MedGen

Items: 1 to 100 of 165

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
(S567N +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CPT2
(C326Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
GUncertain significance
CPT2
(P548R +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
GUncertain significance
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, LOC129930561
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+2 more
GBenign
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
(C84Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
GLikely pathogenic
CPT2
(E487*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyltransferase II deficiency
+1 more
GPathogenic
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
(L288fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
Gnot provided
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
(G345R)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
GLikely pathogenic
CPT2
(D255G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+1 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
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
(H523fs)
Microsatellite
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+3 more
GPathogenic/Likely pathogenic
CPT2
(R631H +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
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
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
(Y479F)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+10 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
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