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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAST, LOC101929710
+1 more
(L323P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CAST, LOC101929710
+1 more
(T138M +1 more)
Single nucleotide variant
(missense variant +1 more)
PCSK1-related condition
+1 more
GConflicting classifications of pathogenicity
LOC101929710, PCSK1
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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