"Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthc - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599166	NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr)	EYS, PHF3 (N3061Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GUncertain significance
Select item 829886	NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr)	PHF3, EYS (M3019T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 599165	NM_001142800.2(EYS):c.8830del (p.Val2944fs)	EYS, PHF3 (V2944fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 493434	NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)	EYS, PHF3 (Q2952fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 635476	NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)	EYS (G2208E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 992432	NM_001142800.2(EYS):c.6461C>G (p.Ser2154Cys)	EYS (S2154C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 635417	NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter)	EYS (L1748*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 829892	NM_001142800.2(EYS):c.875_890delinsTTTCT (p.Glu292fs)	EYS (E292fs)	Indel (frameshift variant)	Retinitis pigmentosa 25	GPathogenic