"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 402177	NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter)	AP4B1-AS1, AP4B1 (E428* +2 more)	Single nucleotide variant (nonsense)	Abnormal brain morphology	GLikely pathogenic
Select item 402201	NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu)	AP4B1, AP4B1-AS1 (F319L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal brain morphology	GLikely pathogenic