"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LCA5"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 more	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 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)	Leber congenital amaurosis 5 +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 934993	NM_001122769.3(LCA5):c.2011C>T (p.Arg671Ter)	LCA5 (R671*)	Single nucleotide variant (nonsense)	not specified +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)	Inborn genetic diseases +2 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 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 1 +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
Select item 2874267	NM_001122769.3(LCA5):c.1926G>A (p.Gly642=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139512	NM_001122769.3(LCA5):c.1920C>T (p.Leu640=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 847709	NM_001122769.3(LCA5):c.1912A>G (p.Asn638Asp)	LCA5 (N638D)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1141722	NM_001122769.3(LCA5):c.1905C>T (p.Asp635=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133103	NM_001122769.3(LCA5):c.1899C>T (p.Asp633=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785943	NM_001122769.3(LCA5):c.1896A>G (p.Gly632=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013387	NM_001122769.3(LCA5):c.1893A>G (p.Lys631=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711536	NM_001122769.3(LCA5):c.1884T>G (p.Ala628=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 863250	NM_001122769.3(LCA5):c.1882G>T (p.Ala628Ser)	LCA5 (A628S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853774	NM_001122769.3(LCA5):c.1862G>A (p.Ser621Asn)	LCA5 (S621N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1399794	NM_001122769.3(LCA5):c.1856C>T (p.Ser619Phe)	LCA5 (S619F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740800	NM_001122769.3(LCA5):c.1854C>T (p.Ser618=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026573	NM_001122769.3(LCA5):c.1853C>A (p.Ser618Tyr)	LCA5 (S618Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707613	NM_001122769.3(LCA5):c.1843A>G (p.Ser615Gly)	LCA5 (S615G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2033305	NM_001122769.3(LCA5):c.1839T>A (p.Gly613=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078731	NM_001122769.3(LCA5):c.1833C>T (p.Ala611=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989281	NM_001122769.3(LCA5):c.1830T>G (p.Gly610=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360140	NM_001122769.3(LCA5):c.1824_1826del (p.Leu608del)	LCA5 (L608del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 844889	NM_001122769.3(LCA5):c.1825T>C (p.Phe609Leu)	LCA5 (F609L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660617	NM_001122769.3(LCA5):c.1824A>G (p.Leu608=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432535	NM_001122769.3(LCA5):c.1821G>T (p.Gln607His)	LCA5 (Q607H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2046859	NM_001122769.3(LCA5):c.1812G>A (p.Leu604=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026557	NM_001122769.3(LCA5):c.1810T>C (p.Leu604=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774646	NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)	LCA5	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 1946387	NM_001122769.3(LCA5):c.1797G>A (p.Glu599=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014700	NM_001122769.3(LCA5):c.1790G>A (p.Arg597Lys)	LCA5 (R597K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006959	NM_001122769.3(LCA5):c.1788A>G (p.Thr596=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101823	NM_001122769.3(LCA5):c.1788A>C (p.Thr596=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 784908	NM_001122769.3(LCA5):c.1785T>A (p.Ile595=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2058285	NM_001122769.3(LCA5):c.1774G>A (p.Val592Ile)	LCA5 (V592I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175311	NM_001122769.3(LCA5):c.1771G>T (p.Gly591Cys)	LCA5 (G591C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358090	NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)	LCA5 (D590G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3002556	NM_001122769.3(LCA5):c.1764T>C (p.Ser588=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2702512	NM_001122769.3(LCA5):c.1753dup (p.Glu585fs)	LCA5 (E585fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1986769	NM_001122769.3(LCA5):c.1747A>T (p.Ser583Cys)	LCA5 (S583C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415599	NM_001122769.3(LCA5):c.1747A>G (p.Ser583Gly)	LCA5 (S583G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358091	NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)	LCA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2861401	NM_001122769.3(LCA5):c.1738C>T (p.Gln580Ter)	LCA5 (Q580*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2827884	NM_001122769.3(LCA5):c.1737C>T (p.Phe579=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 968903	NM_001122769.3(LCA5):c.1727T>C (p.Phe576Ser)	LCA5 (F576S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166737	NM_001122769.3(LCA5):c.1720A>G (p.Ser574Gly)	LCA5 (S574G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817931	NM_001122769.3(LCA5):c.1719A>G (p.Lys573=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801750	NM_001122769.3(LCA5):c.1714C>T (p.Gln572Ter)	LCA5 (Q572*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1977245	NM_001122769.3(LCA5):c.1712G>A (p.Ser571Asn)	LCA5 (S571N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080947	NM_001122769.3(LCA5):c.1707A>G (p.Pro569=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708897	NM_001122769.3(LCA5):c.1700C>A (p.Ser567Ter)	LCA5 (S567*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1942015	NM_001122769.3(LCA5):c.1698G>A (p.Arg566=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776596	NM_001122769.3(LCA5):c.1695G>A (p.Glu565=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604097	NM_001122769.3(LCA5):c.1692A>G (p.Ser564=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164632	NM_001122769.3(LCA5):c.1689A>G (p.Thr563=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729772	NM_001122769.3(LCA5):c.1677G>A (p.Ser559=)	LCA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2028370	NM_001122769.3(LCA5):c.1669_1673del (p.Val557fs)	LCA5 (V557fs)	Deletion (frameshift variant)	not provided	GPathogenic

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