C0162635[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974578	Single allele	GABRA5, NPAP1 +22 more	Deletion	Angelman syndrome	GPathogenic
Select item 974577	Single allele	ATP10A, CYFIP1 +26 more	Deletion	Angelman syndrome	GPathogenic
Select item 974576	Single allele	PWAR5, ATP10A +28 more	Deletion	Angelman syndrome	GPathogenic
Select item 11824	NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	MECP2 (R306C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11811	NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	MECP2 (T158M +2 more)	Single nucleotide variant (missense variant +1 more)	Autism, susceptibility to, X-linked 3 +9 more	GPathogenic/Likely pathogenic

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