LCA5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 155132	GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1	BCKDHB, ELOVL4 +27 more	Copy number loss	See cases	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 910197	NM_001122769.3(LCA5):c.*1777T>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358065	NM_001122769.3(LCA5):c.*1752G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358066	NM_001122769.3(LCA5):c.*1680C>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358067	NM_001122769.3(LCA5):c.*1577T>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358068	NM_001122769.3(LCA5):c.*1573A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358069	NM_001122769.3(LCA5):c.*1559T>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358070	NM_001122769.3(LCA5):c.*1543T>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358071	NM_001122769.3(LCA5):c.*1528G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5 +1 more	GLikely benign
Select item 911093	NM_001122769.3(LCA5):c.*1495G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5 +1 more	GLikely benign
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 911095	NM_001122769.3(LCA5):c.*1326A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358072	NM_001122769.3(LCA5):c.*1316C>T	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358073	NM_001122769.3(LCA5):c.*1300G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 911097	NM_001122769.3(LCA5):c.*1261A>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 911301	NM_001122769.3(LCA5):c.*1232T>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 911303	NM_001122769.3(LCA5):c.*1191T>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358074	NM_001122769.3(LCA5):c.*1137G>T	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 1879667	NM_001122769.3(LCA5):c.1114_1116del	LCA5	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 358075	NM_001122769.3(LCA5):c.*1113G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	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 358076	NM_001122769.3(LCA5):c.*1044A>C	LCA5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 908317	NM_001122769.3(LCA5):c.*1002A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 908318	NM_001122769.3(LCA5):c.*958G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358077	NM_001122769.3(LCA5):c.*903A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 908319	NM_001122769.3(LCA5):c.*892A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358078	NM_001122769.3(LCA5):c.*875A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358079	NM_001122769.3(LCA5):c.*874A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358080	NM_001122769.3(LCA5):c.*842A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 908320	NM_001122769.3(LCA5):c.*838C>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358081	NM_001122769.3(LCA5):c.*815A>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 909162	NM_001122769.3(LCA5):c.*763A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 909163	NM_001122769.3(LCA5):c.*719A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358082	NM_001122769.3(LCA5):c.*640T>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358083	NM_001122769.3(LCA5):c.*634A>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 909164	NM_001122769.3(LCA5):c.*628T>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 909165	NM_001122769.3(LCA5):c.*617T>C	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 909166	NM_001122769.3(LCA5):c.*497G>A	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GUncertain significance
Select item 358084	NM_001122769.3(LCA5):c.*473T>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 911162	NM_001122769.3(LCA5):c.*344T>C	LCA5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 358085	NM_001122769.3(LCA5):c.*223A>G	LCA5	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 5	GBenign
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 358086	NM_001122769.3(LCA5):c.*35del	LCA5	Deletion (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 911164	NM_001122769.3(LCA5):c.*29G>T	LCA5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 358087	NM_001122769.3(LCA5):c.*22dup	LCA5	Duplication (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 1965933	NM_001122769.3(LCA5):c.2091A>G (p.Arg697=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014991	NM_001122769.3(LCA5):c.2091A>C (p.Arg697Ser)	LCA5 (R697S)	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 2743102	NM_001122769.3(LCA5):c.2085A>G (p.Ala695=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 861637	NM_001122769.3(LCA5):c.2083G>A (p.Ala695Thr)	LCA5 (A695T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893726	NM_001122769.3(LCA5):c.2082A>G (p.Val694=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108730	NM_001122769.3(LCA5):c.2079A>G (p.Glu693=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103066	NM_001122769.3(LCA5):c.2076A>G (p.Glu692=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752676	NM_001122769.3(LCA5):c.2067T>C (p.Asp689=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164454	NM_001122769.3(LCA5):c.2066A>G (p.Asp689Gly)	LCA5 (D689G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405709	NM_001122769.3(LCA5):c.2066A>C (p.Asp689Ala)	LCA5 (D689A)	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 1468449	NM_001122769.3(LCA5):c.2051C>T (p.Ala684Val)	LCA5 (A684V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425108	NM_001122769.3(LCA5):c.2050G>C (p.Ala684Pro)	LCA5 (A684P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1553289	NM_001122769.3(LCA5):c.2043A>T (p.Val681=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1127593	NM_001122769.3(LCA5):c.2043A>G (p.Val681=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1154444	NM_001122769.3(LCA5):c.2040A>G (p.Ala680=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2051680	NM_001122769.3(LCA5):c.2029G>T (p.Asp677Tyr)	LCA5 (D677Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1360089	NM_001122769.3(LCA5):c.2029G>A (p.Asp677Asn)	LCA5 (D677N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 358088	NM_001122769.3(LCA5):c.2028C>T (p.Asp676=)	LCA5	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 5 +1 more	GConflicting classifications of pathogenicity
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 2754147	NM_001122769.3(LCA5):c.2025A>C (p.Ala675=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 844047	NM_001122769.3(LCA5):c.2020del (p.His674fs)	LCA5 (H674fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1157084	NM_001122769.3(LCA5):c.2019A>G (p.Lys673=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794846	NM_001122769.3(LCA5):c.2014T>C (p.Leu672=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399443	NM_001122769.3(LCA5):c.2010_2013del (p.His670_Arg671insTer)	LCA5	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1147293	NM_001122769.3(LCA5):c.2013A>C (p.Arg671=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329958	NM_001122769.3(LCA5):c.2012G>A (p.Arg671Gln)	LCA5 (R671Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 934993	NM_001122769.3(LCA5):c.2011C>T (p.Arg671Ter)	LCA5 (R671*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1110018	NM_001122769.3(LCA5):c.2010C>T (p.His670=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671088	NM_001122769.3(LCA5):c.2007G>A (p.Arg669=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 811180	NM_001122769.3(LCA5):c.2006G>A (p.Arg669Lys)	LCA5 (R669K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 358089	NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met)	LCA5 (R669M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +1 more	GUncertain significance
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 1668183	NM_001122769.3(LCA5):c.1983A>G (p.Glu661=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584214	NM_001122769.3(LCA5):c.1980T>C (p.Ser660=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961109	NM_001122769.3(LCA5):c.1979G>A (p.Ser660Asn)	LCA5 (S660N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705195	NM_001122769.3(LCA5):c.1979del (p.Ser660fs)	LCA5 (S660fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1109441	NM_001122769.3(LCA5):c.1977C>T (p.Leu659=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094415	NM_001122769.3(LCA5):c.1974C>T (p.Phe658=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 911363	NM_001122769.3(LCA5):c.1970T>C (p.Phe657Ser)	LCA5 (F657S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 167255	NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)	LCA5 (G656D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 5 +3 more	GBenign
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 1583658	NM_001122769.3(LCA5):c.1950A>G (p.Glu650=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774183	NM_001122769.3(LCA5):c.1947A>G (p.Gln649=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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