"Baylor Genetics"[submitter] AND "LCA5"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 199195	NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)	LCA5 (D676Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2676291	NM_001122769.3(LCA5):c.1860_1861dup (p.Ser621fs)	LCA5 (S621fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241817	NM_001122769.3(LCA5):c.1823del (p.Leu608fs)	LCA5 (L608fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GPathogenic
Select item 2136438	NM_001122769.3(LCA5):c.1819_1820del (p.Gln607fs)	LCA5 (Q607fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2676284	NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)	LCA5 (E599*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 961285	NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)	LCA5 (K586*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 2676290	NM_001122769.3(LCA5):c.1730dup (p.Leu577fs)	LCA5 (L577fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676281	NM_001122769.3(LCA5):c.1673dup (p.Ser559fs)	LCA5 (S559fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241822	NM_001122769.3(LCA5):c.1579del (p.Ile527fs)	LCA5 (I527fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676280	NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)	LCA5 (L518*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676279	NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs)	LCA5 (R517fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241825	NM_001122769.3(LCA5):c.1490C>G (p.Ser497Ter)	LCA5 (S497*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 864411	NM_001122769.3(LCA5):c.1466del (p.Leu489fs)	LCA5 (L489fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5 +1 more	GPathogenic
Select item 809973	NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)	LCA5 (R482*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 3241819	NM_001122769.3(LCA5):c.1426A>T (p.Arg476Ter)	LCA5 (R476*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 1073156	NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter)	LCA5 (E460*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 641484	NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter)	LCA5 (E415*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2676282	NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)	LCA5 (W412*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 966	NM_001122769.3(LCA5):c.1151del (p.Pro384fs)	LCA5 (P384fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5 +2 more	GPathogenic
Select item 2676286	NM_001122769.3(LCA5):c.1099-1G>A	LCA5	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 810630	NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer)	LCA5	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 287456	NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter)	LCA5 (Y354*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3241821	NM_001122769.3(LCA5):c.982del (p.Leu328fs)	LCA5 (L328fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676277	NM_001122769.3(LCA5):c.955+1G>A	LCA5	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 802243	NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)	LCA5 (A319T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 1452026	NM_001122769.3(LCA5):c.953dup (p.Asn318fs)	LCA5 (N318fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 2676287	NM_001122769.3(LCA5):c.887del (p.Asn296fs)	LCA5 (N296fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 1067727	NM_001122769.3(LCA5):c.859-2A>G	LCA5	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 5 +1 more	GLikely pathogenic
Select item 978442	NM_001122769.3(LCA5):c.858+1G>C	LCA5	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 5 +1 more	GLikely pathogenic
Select item 438153	NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	LCA5 (R280*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 968	NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	LCA5 (Q279*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 938300	NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter)	LCA5 (Y265*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 960517	NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)	LCA5 (R255*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5 +2 more	GPathogenic
Select item 1965177	NM_001122769.3(LCA5):c.753_754del (p.Asn251fs)	LCA5 (N251fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 978441	NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)	LCA5 (S249fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5 +2 more	GPathogenic
Select item 3241826	NM_001122769.3(LCA5):c.721-2A>T	LCA5	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241816	NM_001122769.3(LCA5):c.706G>T (p.Glu236Ter)	LCA5 (E236*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676283	NM_001122769.3(LCA5):c.686_687del (p.Glu229fs)	LCA5 (E229fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241824	NM_001122769.3(LCA5):c.680C>A (p.Ser227Ter)	LCA5 (S227*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 1068963	NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter)	LCA5 (R218*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3241820	NM_001122769.3(LCA5):c.604T>C (p.Ser202Pro)	LCA5 (S202P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 813188	NM_001122769.3(LCA5):c.516_519del (p.Lys172fs)	LCA5 (K172fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2199286	NM_001122769.3(LCA5):c.491A>G (p.His164Arg)	LCA5 (H164R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 2094552	NM_001122769.3(LCA5):c.407del (p.Ser135_Leu136insTer)	LCA5	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676285	NM_001122769.3(LCA5):c.400_403del (p.Lys134fs)	LCA5 (K134fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 662038	NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)	LCA5 (R80*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 639813	NM_001122769.3(LCA5):c.190+1G>A	LCA5	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 842687	NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter)	LCA5 (R48*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2676289	NM_001122769.3(LCA5):c.129dup (p.Ala44fs)	LCA5 (A44fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 2676288	NM_001122769.3(LCA5):c.122del (p.Ser41fs)	LCA5 (S41fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241823	NM_001122769.3(LCA5):c.69C>A (p.Tyr23Ter)	LCA5 (Y23*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GPathogenic
Select item 2136441	NM_001122769.3(LCA5):c.42_45del (p.Lys15fs)	LCA5 (K15fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2676278	NM_001122769.3(LCA5):c.41del (p.Arg14fs)	LCA5 (R14fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 855636	NM_001122769.3(LCA5):c.30dup (p.Asp11Ter)	LCA5 (D11*)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic

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Items: 55