U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCH1
Single nucleotide variant
(splice acceptor variant +1 more)
Gorlin syndrome
GPathogenic
PTCH1
(D57fs)
Duplication
(frameshift variant +2 more)
PTCH1-related disorder
GLikely pathogenic