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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC100507346, PTCH1
(W693S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GLikely pathogenic
LOC100507346, PTCH1
(L605fs +4 more)
Deletion
(non-coding transcript variant +1 more)
PTCH1-related disorder
GLikely pathogenic