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Items: 1 to 100 of 173

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2, LOC129930561
(Q36fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(T428fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(H242fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(N357*)
Duplication
(nonsense)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(Y64*)
Single nucleotide variant
(nonsense)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(T482fs)
Deletion
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GPathogenic
CPT2
(Q400fs)
Microsatellite
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(Y591fs +1 more)
Deletion
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(K495fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(R382fs)
Deletion
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GPathogenic/Likely pathogenic
CPT2, LOC129930561
(S22fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GPathogenic
CPT2
(E487fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2
(R477Q)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+6 more
GUncertain significance
CPT2
(F602fs +1 more)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GPathogenic/Likely pathogenic
CPT2
(Y508C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(S86fs)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GPathogenic/Likely pathogenic
CPT2
(Y479*)
Single nucleotide variant
(nonsense)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GPathogenic/Likely pathogenic
CPT2
(S567N +1 more)
Single nucleotide variant
(missense variant)
Hypoammonemia
+5 more
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
(R303fs)
Duplication
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GPathogenic/Likely pathogenic
CPT2
(Q459L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2
(L72fs)
Microsatellite
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GPathogenic/Likely pathogenic
CPT2
(G375V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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
(R151W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+2 more
GPathogenic
CPT2
(A204V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+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)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+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
(R531* +1 more)
Single nucleotide variant
(nonsense)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GPathogenic
CPT2
(F117fs)
Deletion
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GPathogenic/Likely pathogenic
CPT2, LOC129930561
(W10*)
Insertion
(nonsense)
Carnitine palmitoyltransferase II deficiency
+3 more
GPathogenic
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)
Carnitine palmitoyltransferase II deficiency
+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)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+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
(A67G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+3 more
GLikely pathogenic
CPT2
(V605L +1 more)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GPathogenic/Likely pathogenic
CPT2
(V583fs +1 more)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic
CPT2
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CPT2
(M438V)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GUncertain significance
CPT2
(E622fs +1 more)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+2 more
GPathogenic/Likely pathogenic
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, neonatal form
+4 more
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely benign
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+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)
not provided
+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
(T442fs)
Deletion
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+1 more
GLikely pathogenic
CPT2, LOC129930561
(H44Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+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
(P572fs +1 more)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+3 more
GPathogenic/Likely pathogenic
CPT2
(V466A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CPT2
(P629L +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+6 more
GUncertain significance
CPT2
(V410I)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+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
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+2 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
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