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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2, LOC129930561
(P50H)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+13 more
GPathogenic
CPT2
(S113L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+7 more
GPathogenic/Likely pathogenic
CPT2
(Y120C)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+5 more
GPathogenic/Likely pathogenic
CPT2
(R151Q)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic/Likely pathogenic
CPT2
(E174K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+2 more
GPathogenic/Likely pathogenic
CPT2
Indel
(inframe_indel)
CPT2-related condition
+3 more
GConflicting classifications of pathogenicity
CPT2
(M214T)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
Gnot provided
CPT2
(P227L)
Single nucleotide variant
(missense variant)
CPT2-related condition
+6 more
GPathogenic/Likely pathogenic
CPT2
(D328G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GLikely pathogenic
CPT2
(F352C)
Single nucleotide variant
(missense variant)
CPT2-related condition
+7 more
GBenign/Likely benign
CPT2
(V368I)
Single nucleotide variant
(missense variant)
CPT2-related condition
+5 more
GBenign
CPT2
(R382K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
Gnot provided
CPT2
(F383Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+6 more
GPathogenic/Likely pathogenic
CPT2
(K414fs)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic
CPT2
(F448L +1 more)
Single nucleotide variant
(missense variant +1 more)
Carnitine palmitoyltransferase II deficiency
+1 more
GPathogenic
CPT2
(F448L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GConflicting classifications of pathogenicity; other
CPT2
(R503C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic/Likely pathogenic
CPT2
(G549D +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GConflicting classifications of pathogenicity
CPT2
Deletion
(nonsense)
Carnitine palmitoyltransferase II deficiency
Gnot provided
CPT2
(Y628S +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
GPathogenic/Likely pathogenic
CPT2
(R631C +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic
CPT2
(K619fs +1 more)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
Gnot provided
CPT2
(M647V +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GBenign
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