"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812310	NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala)	PHF3, EYS (G3110A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely 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 812311	NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs)	EYS, PHF3 (N3096fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812312	NM_001370348.2(PHF3):c.8063_8068del	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 558485	NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	EYS (Q2744fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 812313	NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter)	EYS (Q2723* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 554682	NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	EYS (H2719fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812314	NM_001142800.2(EYS):c.8105del (p.Asn2702fs)	EYS (N2702fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 402227	NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)	EYS (R2326*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 236448	NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)	EYS (W2046*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 137257	NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)	EYS (V2040D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 802233	NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)	EYS (W1817*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 812316	NM_001142800.2(EYS):c.4361_4362delinsAG (p.Ser1454Ter)	EYS (S1454*)	Indel (nonsense)	Retinitis punctata albescens	GPathogenic
Select item 812317	NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter)	EYS (E1239*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 558511	NM_001142800.2(EYS):c.2259+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic
Select item 421249	NM_001142800.2(EYS):c.2137+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 812318	NM_001142800.2(EYS):c.1961dup (p.Asn654fs)	EYS (N654fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551873	NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)	EYS (G618S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 812319	NM_001142800.2(EYS):c.1558AAT[1] (p.Asn521del)	EYS (N521del)	Microsatellite (inframe_deletion)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 619215	NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	EYS (C436*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 636023	NM_001142800.2(EYS):c.1211dup (p.Asn404fs)	EYS (N404fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 812320	NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)	EYS (T135fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 812468	NC_000006.11:g.65376653_65743428del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 812467	NC_000006.11:g.64666416_66194230del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 812315	NC_000006.12:g.64349976_64426764del	EYS	Deletion	Retinitis pigmentosa	GPathogenic

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Items: 25