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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT1A
(G710E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CPT1A
(G709E)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
Deletion
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
Microsatellite
(splice donor variant)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
CPT1A
(Y579*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
CPT1A
Deletion
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
CPT1A
(Y498*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
CPT1A
(Y498C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GConflicting classifications of pathogenicity
CPT1A
(L484P)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
CPT1A
(P479L)
Single nucleotide variant
(missense variant)
CPT1A-related condition
+2 more
GConflicting classifications of pathogenicity
CPT1A
(W475*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(G465W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
CPT1A
(D454G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A, LOC126861244
(A414V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
(E360G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
(R357W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
(F343V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GConflicting classifications of pathogenicity
CPT1A
(I317fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
(R316G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
+1 more
GUncertain significance
CPT1A
(T314I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
(C304W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
CPT1A
(A275T)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
+1 more
GBenign/Likely benign
CPT1A
(R160*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
(R123C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CPT1A
(Q100*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
+1 more
GPathogenic/Likely pathogenic
CPT1A
(Y32*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
Gnot provided
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