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

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Items: 36

	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 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)	Retinitis pigmentosa 25 +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)	Retinal dystrophy +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)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 853127	NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	EYS (E2703* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 2100506	NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)	EYS (Y2432*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 658881	NM_001142800.2(EYS):c.7228+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25 +2 more	GPathogenic
Select item 357695	NM_001142800.2(EYS):c.7034G>A (p.Arg2345His)	EYS (R2345H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2441312	NM_001142800.2(EYS):c.6904G>C (p.Val2302Leu)	EYS (V2302L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 281325	NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	EYS (P2265fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic
Select item 189230	NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	EYS (C2139Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1324359	NM_001142800.2(EYS):c.6286del (p.Ser2096fs)	EYS (S2096fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 961276	NM_001142800.2(EYS):c.6192-1G>T	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 560459	NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)	EYS (G2017V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 425384	NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)	EYS (S1915G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 1437069	NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs)	EYS (V1846fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2154762	NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)	EYS (S1648Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 195936	NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	EYS (I1451fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1324362	NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs)	EYS (P1385fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 624253	NM_001142800.2(EYS):c.3878-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25 +1 more	GLikely pathogenic
Select item 438196	NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)	EYS (Q1259*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 1069772	NM_001142800.2(EYS):c.3443+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 195665	NM_001142800.2(EYS):c.3443+1G>T	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 1324361	NM_001142800.2(EYS):c.3244-1G>C	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 236446	NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)	EYS (V944fs)	Deletion (frameshift variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 636026	NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	EYS (G843E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 421249	NM_001142800.2(EYS):c.2137+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 522342	NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)	EYS (W558*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 1324360	NM_001142800.2(EYS):c.1527del (p.Asp510fs)	EYS (D510fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 950186	NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter)	EYS (C493*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 236447	NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	EYS (C385*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 855639	NM_001142800.2(EYS):c.525_527del (p.Glu176del)	EYS (E176del)	Deletion (inframe_deletion)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 357750	NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)	EYS (E31K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 36