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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCHD1
(K181T)
Single nucleotide variant
(missense variant)
Autism, susceptibility to, X-linked 4
+1 more
GLikely pathogenic
PTCHD1
(Y478H)
Single nucleotide variant
(missense variant)
Autism, susceptibility to, X-linked 4
+1 more
GConflicting classifications of pathogenicity