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Links from MedGen

Items: 1 to 100 of 939

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT1A
(C659*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
Single nucleotide variant
(splice donor variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
Duplication
(splice donor variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
(Y231fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A, LOC126861244
(W391*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A, LOC126861244
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(Q688*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Microsatellite
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A, LOC126861244
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Duplication
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GBenign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(P510A)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GUncertain significance
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Deletion
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GBenign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A, LOC126861244
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(E590K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GUncertain significance
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(I762V)
Single nucleotide variant
(missense variant +1 more)
Carnitine palmitoyl transferase 1A deficiency
GUncertain significance
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(L347fs)
Duplication
(frameshift variant)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(G710R)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(Y239*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A, LOC126861244
(N404fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A, LOC126861244
Single nucleotide variant
(splice donor variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(Y74*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Duplication
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(intron variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely benign
CPT1A
(C613*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase 1A deficiency
GPathogenic
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