"MGZ Medical Genetics Center"[submitter] AND "EYS"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 809963	NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)	EYS (R2604H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 357699	NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	EYS (I2239fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 1709961	NM_001142800.2(EYS):c.4306dup (p.Ile1436fs)	EYS (I1436fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 194357	NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	EYS (N745S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 866202	NM_001142800.2(EYS):c.32dup (p.Met12fs)	EYS (M12fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic