C0339526[trait identifier] AND "Faculty of Health Sciences, Beirut Ara - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224802	NM_015047.3(EMC1):c.430G>A (p.Ala144Thr)	EMC1 (A144T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 190982	NM_000329.3(RPE65):c.1366del (p.Glu456fs)	RPE65 (E456fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 978979	NM_000329.3(RPE65):c.1129-2A>G	RPE65	Single nucleotide variant (splice acceptor variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 973960	NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)	RPE65 (W331*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 98875	NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	RPE65 (H182Y)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 978981	NM_000329.3(RPE65):c.515T>A (p.Val172Asp)	RPE65 (V172D)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 978980	NM_000329.3(RPE65):c.310G>C (p.Gly104Arg)	RPE65 (G104R)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98840	NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	RPE65 (R44Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GPathogenic
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	Severe early-childhood-onset retinal dystrophy +5 more	GPathogenic
Select item 978987	NM_000350.3(ABCA4):c.5642C>G (p.Ala1881Gly)	ABCA4 (A1881G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 99375	NM_000350.3(ABCA4):c.5460+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 190983	NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)	ABCA4	Microsatellite (frameshift variant +1 more)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic/Likely pathogenic
Select item 99275	NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)	ABCA4 (G1439D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 236102	NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	ABCA4 (R1161H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 190985	NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter)	ABCA4 (E939* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 191262	NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)	ABCA4 (N545fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 978982	NM_000350.3(ABCA4):c.1615del (p.Leu539fs)	ABCA4 (L539fs)	Deletion (frameshift variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 99033	NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	ABCA4 (N380K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 978995	NM_201253.3(CRB1):c.80G>T (p.Cys27Phe)	CRB1 (C27F)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic/Likely pathogenic
Select item 978990	NM_201253.3(CRB1):c.80G>C (p.Cys27Ser)	CRB1 (C27S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 190990	NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)	CRB1 (C394R +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 866829	NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	CRB1 (G477R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 978991	NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)	CRB1 (F376S +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 867150	NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)	CRB1 (C522fs +2 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 978992	NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter)	CRB1 (W563* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8	GPathogenic
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 191264	NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs)	CRB1 (P708fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 978993	NM_201253.3(CRB1):c.2701G>T (p.Val901Phe)	CRB1 (V789F +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 978994	NM_201253.3(CRB1):c.3495T>G (p.Cys1165Trp)	CRB1 (C1053W +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 978999	NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala)	USH2A (V4765A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 979016	NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)	USH2A-AS1, USH2A (A1345P)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 979000	NM_206933.4(USH2A):c.1923T>A (p.Cys641Ter)	USH2A (C641*)	Single nucleotide variant (nonsense)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 979017	NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)	USH2A (T281K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 978985	NM_021831.6(AGBL5):c.1255dup (p.Thr419fs)	AGBL5 (T419fs)	Duplication (frameshift variant +1 more)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 979001	NM_001029883.3(PCARE):c.2967del (p.Val990fs)	PCARE (V990fs)	Deletion (frameshift variant)	Retinitis pigmentosa 54	GPathogenic
Select item 105	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	PCARE (K919fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 866909	NM_001029883.3(PCARE):c.1525del (p.Thr509fs)	PCARE (T509fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 978989	NM_001029883.3(PCARE):c.1377del (p.Phe459fs)	PCARE (F459fs)	Deletion (frameshift variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 866617	NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter)	PCARE (Q268*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 497934	NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)	FAM161A (R335*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 35	NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	FAM161A (R229*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 438166	NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs)	FAM161A (K227fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 28	GPathogenic
Select item 191123	NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)	MERTK (K109*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GPathogenic
Select item 957448	NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs)	MERTK (E434fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 979013	NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs)	MERTK (A446fs)	Deletion (frameshift variant)	Retinitis pigmentosa 38	GPathogenic
Select item 191124	NM_006343.3(MERTK):c.1604+2T>G	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 5402	NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)	MERTK (R651*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 979014	NM_006343.3(MERTK):c.2079+2T>G	MERTK	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 5403	NM_006343.3(MERTK):c.2189+1G>T	MERTK	Single nucleotide variant (splice donor variant)	Retinal dystrophy +4 more	GPathogenic
Select item 265244	NM_006343.3(MERTK):c.2214del (p.Cys738fs)	MERTK (C738fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 979015	NM_006343.3(MERTK):c.2219C>T (p.Ala740Val)	MERTK (A740V)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 191125	NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)	MERTK (Y754*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 37305	NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)	MERTK (R775*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 978997	NM_201548.5(CERKL):c.1187_1188del (p.Gln396fs)	CERKL (Q283fs +4 more)	Deletion (frameshift variant +1 more)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 438052	NM_201548.5(CERKL):c.1073+3_1073+6del	CERKL	Microsatellite (splice donor variant)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 979002	NM_201548.5(CERKL):c.921C>A (p.Cys307Ter)	CERKL (C194* +4 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic
Select item 191145	NM_201548.5(CERKL):c.812T>C (p.Ile271Thr)	CERKL (I297T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 978998	NM_201548.5(CERKL):c.734T>C (p.Leu245Pro)	CERKL (L227P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 812266	NM_201548.5(CERKL):c.238+1G>A	CERKL, LOC129935214	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2045	NM_001278293.3(ARL6):c.266C>T (p.Ala89Val)	ARL6 (A89V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55	GLikely pathogenic
Select item 191178	NM_001278293.3(ARL6):c.362G>A (p.Arg121His)	ARL6 (R121H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 143151	NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	IMPG2 (R1088*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 5 +2 more	GPathogenic/Likely pathogenic
Select item 978983	NM_016247.4(IMPG2):c.2346_2347del (p.Arg782fs)	IMPG2 (R782fs)	Microsatellite (frameshift variant)	Vitelliform macular dystrophy 5	GPathogenic
Select item 191180	NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)	IMPG2 (W758*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 5 +1 more	GPathogenic/Likely pathogenic
Select item 978984	NM_016247.4(IMPG2):c.909-802_1154-539del	IMPG2	Deletion (splice acceptor variant +1 more)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 813053	NM_016247.4(IMPG2):c.533+4_533+7del	IMPG2	Deletion (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 191181	NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)	IMPG2 (Y171*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 5 +1 more	GPathogenic
Select item 978976	NM_016247.4(IMPG2):c.189dup (p.Gln64fs)	IMPG2 (Q64fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 978977	NM_000283.4(PDE6B):c.121_125del (p.Pro41fs)	PDE6B (P41fs)	Deletion (frameshift variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 856142	NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)	PDE6B, PDE6B-AS1 (C270*)	Single nucleotide variant (nonsense +1 more)	See cases +3 more	GPathogenic
Select item 867185	NM_000283.4(PDE6B):c.992+1G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 40 +2 more	GPathogenic/Likely pathogenic
Select item 979004	NM_000283.4(PDE6B):c.1010A>G (p.His337Arg)	PDE6B (H337R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 13109	NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg)	PDE6B (W807R +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40 +1 more	GPathogenic
Select item 941626	NM_006017.3(PROM1):c.2130+2del	PROM1	Deletion (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 979005	NM_006017.3(PROM1):c.1557C>G (p.Tyr519Ter)	PROM1 (Y510* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 372711	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	PROM1 (Y443fs +1 more)	Duplication (frameshift variant)	PROM1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 191189	NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)	PROM1 (R202G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 41 +5 more	GConflicting classifications of pathogenicity
Select item 834484	NM_145290.4(ADGRA3):c.2504C>G (p.Ser835Cys)	ADGRA3 (S835C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191324	NM_004744.5(LRAT):c.233_242del (p.Leu78fs)	LRAT (L78fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 978974	NM_004744.5(LRAT):c.241_242del (p.Leu81fs)	LRAT (L81fs)	Deletion (frameshift variant)	Leber congenital amaurosis 14	GPathogenic
Select item 978988	NM_000440.3(PDE6A):c.1358_1359del (p.Ile453fs)	PDE6A (I453fs)	Deletion (frameshift variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 193099	NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	PDE6A (R102S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 99665	NM_003322.6(TULP1):c.1495+1G>A	TULP1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 191207	NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)	TULP1 (R419Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 828151	NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	TULP1 (Q248* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the eye +3 more	GPathogenic
Select item 560459	NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)	EYS (G2017V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 942205	NM_001142800.2(EYS):c.910dup (p.Trp304fs)	EYS (W304fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 979003	NM_001142800.2(EYS):c.875_888delinsTTT (p.Glu292fs)	EYS (E292fs)	Indel (frameshift variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 191332	NM_001142800.2(EYS):c.179del (p.Leu60fs)	EYS (L60fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866202	NM_001142800.2(EYS):c.32dup (p.Met12fs)	EYS (M12fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 425431	NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)	RP1L1 (Q1987*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 828064	NM_178857.6(RP1L1):c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1318_Ala1319insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)	RP1L1	Microsatellite (inframe_insertion)	Retinitis pigmentosa 88 +1 more	GPathogenic
Select item 979011	NM_006269.2(RP1):c.606C>A (p.Asp202Glu)	RP1 (D202E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +1 more	GPathogenic/Likely pathogenic
Select item 979012	NM_006269.2(RP1):c.662del (p.Ala221fs)	RP1 (A221fs)	Deletion (frameshift variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 871848	NM_006269.2(RP1):c.1012C>T (p.Arg338Ter)	RP1 (R338*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1 +1 more	GPathogenic
Select item 191341	NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)	RP1 (S574fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic

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