ClinVar for Gene (Select 167691) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290231	NM_001122769.3(LCA5):c.1150C>G (p.Pro384Ala)	LCA5 (P384A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290229	NM_001122769.3(LCA5):c.34C>G (p.Gln12Glu)	LCA5 (Q12E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290228	NM_001122769.3(LCA5):c.575C>T (p.Thr192Ile)	LCA5 (T192I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251869	NM_001122769.3(LCA5):c.1322A>G (p.Tyr441Cys)	LCA5 (Y441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246249	NC_000006.11:g.(?_80202248)_(80203487_?)del	LCA5	Deletion	not provided	GPathogenic
Select item 3245949	NC_000006.11:g.(?_79650410)_(81053521_?)del	BCKDHB, ELOVL4 +6 more	Deletion	Maple syrup urine disease	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 3241825	NM_001122769.3(LCA5):c.1490C>G (p.Ser497Ter)	LCA5 (S497*)	Single nucleotide variant (nonsense)	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 3241823	NM_001122769.3(LCA5):c.69C>A (p.Tyr23Ter)	LCA5 (Y23*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GPathogenic
Select item 3241822	NM_001122769.3(LCA5):c.1579del (p.Ile527fs)	LCA5 (I527fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3241821	NM_001122769.3(LCA5):c.982del (p.Leu328fs)	LCA5 (L328fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely 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 3241819	NM_001122769.3(LCA5):c.1426A>T (p.Arg476Ter)	LCA5 (R476*)	Single nucleotide variant (nonsense)	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 3241816	NM_001122769.3(LCA5):c.706G>T (p.Glu236Ter)	LCA5 (E236*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3118011	NM_001122769.3(LCA5):c.1847C>T (p.Thr616Ile)	LCA5 (T616I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118010	NM_001122769.3(LCA5):c.1654G>C (p.Ala552Pro)	LCA5 (A552P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068066	NM_001122769.3(LCA5):c.386del (p.Leu129fs)	LCA5 (L129fs)	Deletion (frameshift variant)	Leber congenital amaurosis 5	GLikely pathogenic
Select item 3020680	NM_001122769.3(LCA5):c.720+13C>T	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018109	NM_001122769.3(LCA5):c.720+14A>G	LCA5	Single nucleotide variant (intron 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 3012636	NM_001122769.3(LCA5):c.1560T>C (p.Asn520=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010405	NM_001122769.3(LCA5):c.721-16G>A	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005667	NM_001122769.3(LCA5):c.190+16A>G	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004090	NM_001122769.3(LCA5):c.1233A>G (p.Glu411=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002556	NM_001122769.3(LCA5):c.1764T>C (p.Ser588=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996253	NM_001122769.3(LCA5):c.859-10T>A	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995998	NM_001122769.3(LCA5):c.858+11T>C	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992715	NM_001122769.3(LCA5):c.1275A>G (p.Ala425=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986713	NM_001122769.3(LCA5):c.429G>A (p.Gln143=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980964	NM_001122769.3(LCA5):c.858+19A>G	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979666	NM_001122769.3(LCA5):c.1099-12A>T	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976825	NM_001122769.3(LCA5):c.432G>A (p.Glu144=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964013	NM_001122769.3(LCA5):c.1231+13G>C	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961681	NM_001122769.3(LCA5):c.556G>A (p.Glu186Lys)	LCA5 (E186K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916028	NM_001122769.3(LCA5):c.816A>G (p.Lys272=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915648	NM_001122769.3(LCA5):c.1232-11A>G	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914914	NM_001122769.3(LCA5):c.190+16_190+17del	LCA5	Deletion (intron variant)	not provided	GLikely benign
Select item 2914809	NM_001122769.3(LCA5):c.190+14A>G	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907978	NM_001122769.3(LCA5):c.1232-12G>T	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906622	NM_001122769.3(LCA5):c.474A>T (p.Ser158=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905212	NM_001122769.3(LCA5):c.585A>G (p.Glu195=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903957	NM_001122769.3(LCA5):c.191-15C>A	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900182	NM_001122769.3(LCA5):c.726A>G (p.Leu242=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897479	NM_001122769.3(LCA5):c.387G>A (p.Leu129=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893726	NM_001122769.3(LCA5):c.2082A>G (p.Val694=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893046	NM_001122769.3(LCA5):c.829G>A (p.Glu277Lys)	LCA5 (E277K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890284	NM_001122769.3(LCA5):c.191-17T>C	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888661	NM_001122769.3(LCA5):c.1099-9G>T	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884417	NM_001122769.3(LCA5):c.858+18C>T	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882420	NM_001122769.3(LCA5):c.720+12A>G	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878749	NM_001122769.3(LCA5):c.858+3_858+7dup	LCA5	Duplication (intron variant)	not provided	GLikely benign
Select item 2877596	NM_001122769.3(LCA5):c.1602A>C (p.Gly534=)	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 2873141	NM_001122769.3(LCA5):c.666A>C (p.Ala222=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865347	NM_001122769.3(LCA5):c.191-7T>C	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864865	NM_001122769.3(LCA5):c.191-6T>C	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861401	NM_001122769.3(LCA5):c.1738C>T (p.Gln580Ter)	LCA5 (Q580*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2858740	NM_001122769.3(LCA5):c.956-7A>C	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854649	NM_001122769.3(LCA5):c.720+16C>T	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854185	NM_001122769.3(LCA5):c.167C>G (p.Ser56Ter)	LCA5 (S56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2852311	NM_001122769.3(LCA5):c.912G>A (p.Lys304=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851348	NM_001122769.3(LCA5):c.46del (p.Ala16fs)	LCA5 (A16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2846831	NM_001122769.3(LCA5):c.1122C>T (p.Asp374=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844697	NM_001122769.3(LCA5):c.669G>A (p.Lys223=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840426	NM_001122769.3(LCA5):c.1641C>G (p.Ser547=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839428	NM_001122769.3(LCA5):c.627C>T (p.Ile209=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837747	NM_001122769.3(LCA5):c.1545A>G (p.Ser515=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836601	NM_001122769.3(LCA5):c.1245_1248dup (p.Leu417fs)	LCA5 (L417fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2836298	NM_001122769.3(LCA5):c.1164A>G (p.Arg388=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835374	NM_001122769.3(LCA5):c.519A>G (p.Glu173=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835098	NM_001122769.3(LCA5):c.804T>C (p.His268=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833197	NM_001122769.3(LCA5):c.1231+14T>C	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831855	NM_001122769.3(LCA5):c.1053T>C (p.Ile351=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828427	NM_001122769.3(LCA5):c.411A>G (p.Lys137=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827884	NM_001122769.3(LCA5):c.1737C>T (p.Phe579=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825436	NM_001122769.3(LCA5):c.1596A>G (p.Pro532=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825073	NM_001122769.3(LCA5):c.1278T>G (p.Ser426=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822445	NM_001122769.3(LCA5):c.863del (p.Lys288fs)	LCA5 (K288fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2820982	NM_001122769.3(LCA5):c.195T>G (p.Pro65=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817931	NM_001122769.3(LCA5):c.1719A>G (p.Lys573=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817351	NM_001122769.3(LCA5):c.549G>T (p.Arg183=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812437	NM_001122769.3(LCA5):c.48A>G (p.Ala16=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811699	NM_001122769.3(LCA5):c.71_72delinsCT (p.Leu24Ser)	LCA5 (L24S)	Indel (missense variant)	not provided	GLikely benign
Select item 2810340	NM_001122769.3(LCA5):c.1090del (p.Thr365fs)	LCA5 (T365fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2809542	NM_001122769.3(LCA5):c.69C>T (p.Tyr23=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807970	NM_001122769.3(LCA5):c.1098+12A>G	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805250	NM_001122769.3(LCA5):c.303A>G (p.Thr101=)	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 2801458	NM_001122769.3(LCA5):c.245del (p.Gly82fs)	LCA5 (G82fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2799565	NM_001122769.3(LCA5):c.1149C>T (p.Asn383=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799258	NM_001122769.3(LCA5):c.1098+9A>G	LCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795268	NM_001122769.3(LCA5):c.18A>G (p.Gly6=)	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 2785943	NM_001122769.3(LCA5):c.1896A>G (p.Gly632=)	LCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780093	NM_001122769.3(LCA5):c.194del (p.Pro65fs)	LCA5 (P65fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2779773	NM_001122769.3(LCA5):c.1608T>C (p.Gly536=)	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 2766428	NM_001122769.3(LCA5):c.110C>A (p.Ser37Ter)	LCA5 (S37*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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