"Revvity Omics, Revvity"[submitter] AND "PHF3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538	NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	EYS, PHF3 (Y3156* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 647784	NM_001142800.2(EYS):c.9036del (p.Leu3013fs)	EYS, PHF3 (L3034fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 143115	NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	EYS, PHF3 (Y2935* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 281710	NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly)	EYS, PHF3 (D2930G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 550019	NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	EYS, PHF3 (T2883fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 552866	NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	EYS, PHF3 (T2805fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar