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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CPT2, LOC129930561
(P50H)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+13 more
GPathogenic
CPT2
(A101V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+6 more
GBenign
CPT2
(S113L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+7 more
GPathogenic/Likely pathogenic
CPT2
Single nucleotide variant
(intron variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GConflicting classifications of pathogenicity
CPT2
(R124P)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GConflicting classifications of pathogenicity
CPT2
(N154S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CPT2
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
CPT2
Indel
(inframe_indel)
CPT2-related condition
+3 more
GConflicting classifications of pathogenicity
CPT2
(R193C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CPT2
(P196L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(R225H)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CPT2
(P227L)
Single nucleotide variant
(missense variant)
CPT2-related condition
+6 more
GPathogenic/Likely pathogenic
CPT2
(E285K)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+6 more
GUncertain significance
CPT2
(R296*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic/Likely pathogenic
CPT2
(V318G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+5 more
GUncertain significance
CPT2
(R350C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
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
(K414fs)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic
CPT2
(F448L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GConflicting classifications of pathogenicity; other
CPT2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CPT2
(E487A)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GConflicting classifications of pathogenicity
CPT2
(F516S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GConflicting classifications of pathogenicity
CPT2
(P520L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2
(E545A)
Single nucleotide variant
(missense variant +1 more)
Carnitine palmitoyltransferase II deficiency
+3 more
GConflicting classifications of pathogenicity
CPT2
(G549D +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GConflicting classifications of pathogenicity
CPT2
(S588C +1 more)
Single nucleotide variant
(missense variant)
CPT2-related condition
+8 more
GBenign/Likely benign
CPT2
Single nucleotide variant
(synonymous variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+6 more
GBenign/Likely benign
CPT2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CPT2
(M647V +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GBenign
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