C3279743[trait identifier] AND "OMIM"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30658	NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)	AP4S1 (R42*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 234925	NM_001128126.3(AP4S1):c.138+3_138+6del	AP4S1	Microsatellite (splice donor variant)	Intellectual disability +5 more	GPathogenic
Select item 234924	NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	AP4S1 (R97*)	Single nucleotide variant (nonsense)	Intellectual disability +3 more	GPathogenic/Likely pathogenic

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