"Clinical Genetics, Academic Medical Center"[submitter] AND "EYS"[gene - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 809963	NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)	EYS (R2604H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 357689	NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)	EYS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 744711	NM_001142800.2(EYS):c.7608C>T (p.Ile2536=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 658881	NM_001142800.2(EYS):c.7228+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 357701	NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp)	EYS (G2016D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 438200	NM_001142800.2(EYS):c.5928-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25 +3 more	GPathogenic
Select item 839972	NM_001142800.2(EYS):c.5615T>C (p.Ile1872Thr)	EYS (I1872T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 167051	NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)	EYS (D1662V)	Single nucleotide variant (missense variant)	EYS-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 357711	NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)	EYS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 195936	NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	EYS (I1451fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 137247	NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu)	EYS (K1365E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1070198	NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter)	EYS (Q1188*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 194931	NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)	EYS (L991F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 357727	NM_001142800.2(EYS):c.2613C>T (p.Asp871=)	EYS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 710846	NM_001142800.2(EYS):c.2598C>T (p.Cys866=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1284363	NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter)	EYS (Q770*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 516872	NM_001142800.2(EYS):c.2024-15dup	EYS	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 357739	NM_001142800.2(EYS):c.1899A>G (p.Gln633=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522342	NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)	EYS (W558*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +2 more	GPathogenic
Select item 754270	NM_001142800.2(EYS):c.1600-10G>A	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1144519	NM_001142800.2(EYS):c.1479C>T (p.Cys493=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725175	NM_001142800.2(EYS):c.1107C>T (p.Ser369=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438211	NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	EYS (S326N)	Single nucleotide variant (missense variant)	EYS-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1284396	NM_001142800.2(EYS):c.454dup (p.Met152fs)	EYS (M152fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 137260	NM_001142800.2(EYS):c.334G>A (p.Val112Ile)	EYS (V112I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 357749	NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)	EYS (P94Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 560453	NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)	EYS (Q35*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 27