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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2
(R193C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CPT2
Single nucleotide variant
(synonymous variant +1 more)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+6 more
GBenign/Likely benign
CPT2
Single nucleotide variant
(synonymous variant +1 more)
Carnitine palmitoyltransferase II deficiency
+2 more
GConflicting classifications of pathogenicity
CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+3 more
GConflicting classifications of pathogenicity
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