"Baylor Genetics"[submitter] AND "PTCHD1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442059	NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)	PTCHD1 (I153T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4 +1 more	GUncertain significance
Select item 2582400	NM_173495.3(PTCHD1):c.1256C>G (p.Ser419Trp)	PTCHD1 (S419W)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic

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