ClinVar for MedGen (Select 388031) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068066	NM_001122769.3(LCA5):c.386del (p.Leu129fs)	LCA5 (L129fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
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 2676290	NM_001122769.3(LCA5):c.1730dup (p.Leu577fs)	LCA5 (L577fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5 +1 more	GPathogenic/Likely pathogenic
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 2676287	NM_001122769.3(LCA5):c.887del (p.Asn296fs)	LCA5 (N296fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
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 2676285	NM_001122769.3(LCA5):c.400_403del (p.Lys134fs)	LCA5 (K134fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
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 2676283	NM_001122769.3(LCA5):c.686_687del (p.Glu229fs)	LCA5 (E229fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
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 2676281	NM_001122769.3(LCA5):c.1673dup (p.Ser559fs)	LCA5 (S559fs)	Duplication (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 2676278	NM_001122769.3(LCA5):c.41del (p.Arg14fs)	LCA5 (R14fs)	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 2628020	NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)	LCA5 (Q116*)	Single nucleotide variant (nonsense)	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
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 2136441	NM_001122769.3(LCA5):c.42_45del (p.Lys15fs)	LCA5 (K15fs)	Microsatellite (frameshift variant)	not provided +1 more	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 1452026	NM_001122769.3(LCA5):c.953dup (p.Asn318fs)	LCA5 (N318fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323232	NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)	LCA5 (Y354*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1284340	NM_001122769.3(LCA5):c.137T>A (p.Val46Asp)	LCA5 (V46D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1172715	NM_001122769.3(LCA5):c.1368dup (p.Glu457fs)	LCA5 (E457fs)	Duplication (frameshift variant)	Leber congenital amaurosis 5 +1 more	GPathogenic
Select item 1169661	NM_001122769.3(LCA5):c.768G>A (p.Gln256=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1159829	NM_001122769.3(LCA5):c.1242A>G (p.Arg414=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1068963	NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter)	LCA5 (R218*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5 +1 more	GPathogenic/Likely 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 1054983	NM_001122769.3(LCA5):c.1990A>G (p.Ser664Gly)	LCA5 (S664G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051909	NM_001122769.3(LCA5):c.1415A>G (p.Asn472Ser)	LCA5 (N472S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051729	NM_001122769.3(LCA5):c.2057C>G (p.Ser686Cys)	LCA5 (S686C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050993	NM_001122769.3(LCA5):c.289A>G (p.Thr97Ala)	LCA5 (T97A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046354	NM_001122769.3(LCA5):c.551C>T (p.Ala184Val)	LCA5 (A184V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043380	NM_001122769.3(LCA5):c.1055T>C (p.Met352Thr)	LCA5 (M352T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034519	NM_001122769.3(LCA5):c.664G>C (p.Ala222Pro)	LCA5 (A222P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1024688	NM_001122769.3(LCA5):c.1952A>G (p.His651Arg)	LCA5 (H651R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021043	NM_001122769.3(LCA5):c.1654G>A (p.Ala552Thr)	LCA5 (A552T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018795	NM_001122769.3(LCA5):c.307C>T (p.Arg103Trp)	LCA5 (R103W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011980	NM_001122769.3(LCA5):c.520C>T (p.Arg174Cys)	LCA5 (R174C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010782	NM_001122769.3(LCA5):c.98C>T (p.Ser33Phe)	LCA5 (S33F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1005360	NM_001122769.3(LCA5):c.1523C>T (p.Thr508Ile)	LCA5 (T508I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005074	NM_001122769.3(LCA5):c.186C>G (p.His62Gln)	LCA5 (H62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002008	NM_001122769.3(LCA5):c.1085G>T (p.Gly362Val)	LCA5 (G362V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000386	NM_001122769.3(LCA5):c.956-5del	LCA5	Deletion (intron variant)	not provided	GLikely benign
Select item 999366	NM_001122769.3(LCA5):c.2047G>C (p.Ala683Pro)	LCA5 (A683P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 978441	NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)	LCA5 (S249fs)	Deletion (frameshift variant)	not provided +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 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 978436	NM_001122769.3(LCA5):c.93del (p.Gln31fs)	LCA5 (Q31fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GPathogenic
Select item 971860	NM_001122769.3(LCA5):c.1581C>G (p.Ile527Met)	LCA5 (I527M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970502	NM_001122769.3(LCA5):c.1157T>G (p.Met386Arg)	LCA5 (M386R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970318	NM_001122769.3(LCA5):c.181C>T (p.His61Tyr)	LCA5 (H61Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 968903	NM_001122769.3(LCA5):c.1727T>C (p.Phe576Ser)	LCA5 (F576S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 968001	NM_001122769.3(LCA5):c.1366G>A (p.Gly456Arg)	LCA5 (G456R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967272	NM_001122769.3(LCA5):c.685G>C (p.Glu229Gln)	LCA5 (E229Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966021	NM_001122769.3(LCA5):c.790G>T (p.Ala264Ser)	LCA5 (A264S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965938	NM_001122769.3(LCA5):c.2087T>C (p.Leu696Pro)	LCA5 (L696P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964665	NM_001122769.3(LCA5):c.1424A>G (p.Asp475Gly)	LCA5 (D475G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963761	NM_001122769.3(LCA5):c.839G>A (p.Arg280Gln)	LCA5 (R280Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 960517	NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)	LCA5 (R255*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 958312	NM_001122769.3(LCA5):c.497A>G (p.Asn166Ser)	LCA5 (N166S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 939526	NM_001122769.3(LCA5):c.687G>C (p.Glu229Asp)	LCA5 (E229D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 911432	NM_001122769.3(LCA5):c.19A>G (p.Ser7Gly)	LCA5 (S7G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +2 more	GUncertain significance
Select item 911431	NM_001122769.3(LCA5):c.108A>G (p.Ser36=)	LCA5	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 911364	NM_001122769.3(LCA5):c.1787C>T (p.Thr596Ile)	LCA5 (T596I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911363	NM_001122769.3(LCA5):c.1970T>C (p.Phe657Ser)	LCA5 (F657S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +1 more	GUncertain significance
Select item 911304	NM_001122769.3(LCA5):c.*1103T>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911303	NM_001122769.3(LCA5):c.*1191T>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911302	NM_001122769.3(LCA5):c.*1204A>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911301	NM_001122769.3(LCA5):c.*1232T>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911300	NM_001122769.3(LCA5):c.*1234A>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911232	NM_001122769.3(LCA5):c.488G>A (p.Arg163His)	LCA5 (R163H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +2 more	GUncertain significance
Select item 911231	NM_001122769.3(LCA5):c.650A>C (p.Glu217Ala)	LCA5 (E217A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +2 more	GUncertain significance
Select item 911230	NM_001122769.3(LCA5):c.859-12G>A	LCA5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911165	NM_001122769.3(LCA5):c.2033A>C (p.Lys678Thr)	LCA5 (K678T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911164	NM_001122769.3(LCA5):c.*29G>T	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911163	NM_001122769.3(LCA5):c.*91A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911162	NM_001122769.3(LCA5):c.*344T>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911161	NM_001122769.3(LCA5):c.*464C>T	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911097	NM_001122769.3(LCA5):c.*1261A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911096	NM_001122769.3(LCA5):c.*1292A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GBenign
Select item 911095	NM_001122769.3(LCA5):c.*1326A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911094	NM_001122769.3(LCA5):c.*1385T>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 911093	NM_001122769.3(LCA5):c.*1495G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GLikely benign
Select item 910197	NM_001122769.3(LCA5):c.*1777T>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 910196	NM_001122769.3(LCA5):c.*1851A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 909300	NM_001122769.3(LCA5):c.-400G>T	LCA5	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 909299	NM_001122769.3(LCA5):c.-398G>T	LCA5	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 909236	NM_001122769.3(LCA5):c.1062C>T (p.Tyr354=)	LCA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909166	NM_001122769.3(LCA5):c.*497G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance

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