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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB23
(G207S)
Single nucleotide variant
(missense variant +1 more)
RAB23-related Carpenter syndrome
+3 more
GBenign/Likely benign
RAB23
(S187fs)
Deletion
(frameshift variant +1 more)
RAB23-related Carpenter syndrome
GLikely pathogenic
RAB23
(S101A)
Single nucleotide variant
(missense variant)
RAB23-related Carpenter syndrome
+2 more
GConflicting classifications of pathogenicity
RAB23
(A73V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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