C3279738[trait identifier] AND "Mendelics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623700	NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)	AP4B1, AP4B1-AS1 (Y519* +2 more)	Single nucleotide variant (nonsense)	AP4B1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 157718	NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)	AP4B1, AP4B1-AS1 (L480S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +3 more	GBenign