"DBGen Ocular Genomics"[submitter] AND "EYS"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1213989	NM_001142800.2(EYS):c.8959A>G (p.Ser2987Gly)	EYS, PHF3 (S2987G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1443051	NM_001142800.2(EYS):c.8616_8617del (p.Asp2873fs)	EYS, PHF3 (D2894fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 1065672	NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)	EYS, PHF3 (S2869* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 847608	NM_001142800.2(EYS):c.8598del (p.Gly2867fs)	EYS, PHF3 (G2888fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 862313	NM_001142800.2(EYS):c.7943del (p.Thr2648fs)	EYS (T2648fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1075992	NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)	EYS (T2271fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1053000	NM_001142800.2(EYS):c.6602T>C (p.Leu2201Pro)	EYS (L2201P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1213991	NM_001142800.2(EYS):c.6131_6134del (p.Asn2044fs)	EYS (N2044fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1213996	NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter)	EYS (Y1761*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 802235	NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)	EYS (E1551*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 1213992	NM_001142800.2(EYS):c.4523T>A (p.Leu1508Ter)	EYS (L1508*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 1213997	NM_001142800.2(EYS):c.3938T>A (p.Leu1313Ter)	EYS (L1313*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 1213990	NM_001142800.2(EYS):c.3089G>C (p.Cys1030Ser)	EYS (C1030S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1213994	NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg)	EYS (G843R)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1172713	NM_001142800.2(EYS):c.2287T>G (p.Trp763Gly)	EYS (W763G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636024	NM_001142800.2(EYS):c.2023+5G>T	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1213995	NM_001142800.2(EYS):c.910T>C (p.Trp304Arg)	EYS (W304R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 1213993	NM_001142800.2(EYS):c.514C>T (p.Gln172Ter)	EYS (Q172*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GPathogenic