"Blueprint Genetics"[submitter] AND "PHF3"[gene] - ClinVar - NCBI

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Items: 17

	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 25 +3 more	GPathogenic/Likely pathogenic
Select item 867058	NM_001142800.2(EYS):c.9392G>A (p.Gly3131Glu)	EYS, PHF3 (G3152E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 865915	NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)	EYS, PHF3 (K3128fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 802230	NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	EYS, PHF3 (T3100fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 289906	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS, PHF3 (V3117fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 866400	NM_001142800.2(EYS):c.9261dup (p.Gly3088fs)	EYS, PHF3 (G3109fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 289313	NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)	EYS, PHF3 (N3062fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
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 865822	NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)	EYS, PHF3 (W3044L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GLikely pathogenic
Select item 866842	NM_001142800.2(EYS):c.9083T>A (p.Ile3028Asn)	EYS, PHF3 (I3049N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 836062	NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)	EYS, PHF3 (G2945E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 624249	NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)	EYS, PHF3 (C2927R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
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 866841	NM_001142800.2(EYS):c.8620T>C (p.Cys2874Arg)	EYS, PHF3 (C2874R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866728	NM_001142800.2(EYS):c.8522_8525del (p.Pro2841fs)	EYS, PHF3 (P2841fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 93622	NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)	EYS, PHF3 (N2803fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic