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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCH1
(K119* +3 more)
Single nucleotide variant
(nonsense +1 more)
Gorlin syndrome
GPathogenic
PTCH1
(N31fs +2 more)
Deletion
(frameshift variant +2 more)
Gorlin syndrome
GPathogenic