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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT1C
(A396E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CPT1C
(P451L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CPT1C
(S577L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CPT1C
(Q569R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CPT1C
(N698D +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 73
+1 more
GConflicting classifications of pathogenicity
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