"Counsyl"[submitter] AND "PHF3"[gene] - ClinVar - NCBI

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Items: 13

	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)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 281809	NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)	EYS, PHF3 (V3116del +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 557700	NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	EYS, PHF3 (T3106fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 289906	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS, PHF3 (V3117fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 558109	NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)	EYS, PHF3 (I3056fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556940	NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)	EYS, PHF3 (R3027fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 552326	NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu)	EYS, PHF3 (F2954L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 550019	NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	EYS, PHF3 (T2883fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 438210	NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly)	EYS, PHF3 (D2873G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 287296	NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)	EYS, PHF3 (T2810I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 252538	NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)	EYS, PHF3 (A2808T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
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
Select item 438209	NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)	EYS, PHF3 (R2790G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity