C1858301[trait identifier] AND "Laboratory of Genetics in Ophthalmolog - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978445	NM_001122769.3(LCA5):c.1545dup (p.Glu516fs)	LCA5 (E516fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 978444	NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)	LCA5 (E496*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GPathogenic
Select item 978443	NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter)	LCA5 (E396*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GPathogenic
Select item 978442	NM_001122769.3(LCA5):c.858+1G>C	LCA5	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 968	NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	LCA5 (Q279*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5 +3 more	GPathogenic
Select item 978441	NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)	LCA5 (S249fs)	Deletion (frameshift variant)	Leber congenital amaurosis +1 more	GPathogenic
Select item 978440	NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter)	LCA5 (Q204*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GPathogenic
Select item 374516	NM_001122769.3(LCA5):c.574dup (p.Thr192fs)	LCA5 (T192fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 978439	NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs)	LCA5 (Q179fs)	Insertion (frameshift variant)	Leber congenital amaurosis 5	GPathogenic
Select item 978438	NM_001122769.3(LCA5):c.527_529del (p.Arg176del)	LCA5 (R176del)	Deletion (inframe_deletion)	Leber congenital amaurosis 5	GPathogenic
Select item 978437	NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly)	LCA5 (E132G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 844114	NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)	LCA5 (R35*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 978436	NM_001122769.3(LCA5):c.93del (p.Gln31fs)	LCA5 (Q31fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GPathogenic
Select item 2574661	NM_181714.4(LCA5):c.1569_1582del (p.His523fs)	LCA5 (H523fs)	Deletion	Leber congenital amaurosis 5	GLikely pathogenic