C5442121[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2052447	NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)	PAX1 (S53*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2143501	NM_001257096.2(PAX1):c.197dup (p.Ala67fs)	PAX1 (A67fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2434579	NM_001257096.2(PAX1):c.1117T>G (p.Ser373Ala)	PAX1 (S373A)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2	GUncertain significance

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