ClinVar for MedGen (Select 341446) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376767	NM_014249.4(NR2E3):c.1219A>G (p.Met407Val)	NR2E3 (M407V)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome	GUncertain significance
Select item 3340518	NM_014249.4(NR2E3):c.1100+4A>G	NR2E3	Single nucleotide variant (stop lost +1 more)	Enhanced S-cone syndrome +1 more	GUncertain significance
Select item 3239985	NM_014249.4(NR2E3):c.495dup (p.Ala166fs)	NR2E3 (A166fs)	Duplication (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 3239984	NM_014249.4(NR2E3):c.503_507del (p.Ala168fs)	NR2E3 (A168fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 3239983	NM_014249.4(NR2E3):c.96G>A (p.Trp32Ter)	NR2E3 (W32*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 3239982	NM_014249.4(NR2E3):c.770G>A (p.Trp257Ter)	NR2E3 (W257*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 3239981	NM_014249.4(NR2E3):c.1215_1216insAA (p.Asp406fs)	NR2E3 (D406fs)	Insertion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 3239979	NM_014249.4(NR2E3):c.359del (p.Asn120fs)	NR2E3 (N120fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 3239978	NM_014249.4(NR2E3):c.499A>T (p.Arg167Ter)	NR2E3 (R167*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 3239977	NM_014249.4(NR2E3):c.162_169del (p.Ser54fs)	NR2E3 (S54fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677373	NM_014249.4(NR2E3):c.453_465del (p.Pro152fs)	NR2E3 (P152fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677372	NM_014249.4(NR2E3):c.185_186del (p.Tyr62fs)	NR2E3 (Y62fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677371	NM_014249.4(NR2E3):c.119-2A>T	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677370	NM_014249.4(NR2E3):c.1144del (p.Thr382fs)	NR2E3 (T382fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677369	NM_014249.4(NR2E3):c.803G>A (p.Trp268Ter)	NR2E3 (W268*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677368	NM_014249.4(NR2E3):c.298_299del (p.Cys100fs)	NR2E3 (C100fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677367	NM_014249.4(NR2E3):c.771G>A (p.Trp257Ter)	NR2E3 (W257*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677366	NM_014249.4(NR2E3):c.225_245+6del	NR2E3	Deletion (splice donor variant)	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2677365	NM_014249.4(NR2E3):c.118+1G>A	NR2E3	Single nucleotide variant (splice donor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677364	NM_014249.4(NR2E3):c.1104del (p.Phe368fs)	NR2E3 (F368fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677363	NM_014249.4(NR2E3):c.572-2A>G	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677362	NM_014249.4(NR2E3):c.359dup (p.Asn120fs)	NR2E3 (N120fs)	Duplication (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677361	NM_014249.4(NR2E3):c.994+2T>C	NR2E3	Single nucleotide variant (splice donor variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677359	NM_014249.4(NR2E3):c.1175del (p.Arg392fs)	NR2E3 (R392fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677358	NM_014249.4(NR2E3):c.509del (p.Gly170fs)	NR2E3 (G170fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2677357	NM_014249.4(NR2E3):c.336del (p.Gly112_Met113insTer)	NR2E3	Deletion (frameshift variant)	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2677356	NM_014249.4(NR2E3):c.583del (p.Ile195fs)	NR2E3 (I195fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome +1 more	GPathogenic
Select item 2677355	NM_014249.4(NR2E3):c.1154_1155del (p.Arg385fs)	NR2E3 (R385fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2585341	NM_014249.4(NR2E3):c.532dup (p.Ile178fs)	NR2E3 (I178fs)	Duplication (frameshift variant)	Enhanced S-cone syndrome	GLikely pathogenic
Select item 2155106	NM_014249.4(NR2E3):c.302_325del (p.Gln101_Cys108del)	NR2E3	Deletion (inframe_deletion)	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2137727	NM_014249.4(NR2E3):c.1220T>A (p.Met407Lys)	NR2E3 (M407K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2137726	NM_014249.4(NR2E3):c.1095C>G (p.Pro365=)	NR2E3	Single nucleotide variant (synonymous variant)	NR2E3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2137725	NM_014249.4(NR2E3):c.1049A>G (p.Gln350Arg)	NR2E3 (Q350R)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2017502	NM_014249.4(NR2E3):c.118+1G>T	NR2E3	Single nucleotide variant (splice donor variant)	Enhanced S-cone syndrome +1 more	GLikely pathogenic
Select item 1942248	NM_014249.4(NR2E3):c.996_997del	NR2E3	Microsatellite	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1928679	NM_014249.4(NR2E3):c.612_642del (p.Pro205fs)	NR2E3 (P205fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1900501	NM_014249.4(NR2E3):c.1097_1098del (p.Val366fs)	NR2E3 (V366fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1456422	NM_014249.4(NR2E3):c.131C>A (p.Ser44Ter)	NR2E3 (S44*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome +1 more	GPathogenic
Select item 1453001	NM_014249.4(NR2E3):c.1042C>T (p.Gln348Ter)	NR2E3 (Q348*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1452924	NM_014249.4(NR2E3):c.645C>A (p.Cys215Ter)	NR2E3 (C215*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1452315	NM_014249.4(NR2E3):c.874del (p.Arg292fs)	NR2E3 (R292fs)	Deletion (frameshift variant)	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1446484	NM_014249.4(NR2E3):c.371C>T (p.Pro124Leu)	NR2E3 (P124L)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 1445894	NM_014249.4(NR2E3):c.731del (p.Leu244fs)	NR2E3 (L244fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1437259	NM_014249.4(NR2E3):c.248G>A (p.Cys83Tyr)	NR2E3 (C83Y)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1361677	NM_014249.4(NR2E3):c.119-2A>G	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +1 more	GPathogenic
Select item 1348597	NM_014249.4(NR2E3):c.164G>A (p.Ser55Asn)	NR2E3 (S55N)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +2 more	GUncertain significance
Select item 1333361	NM_014249.4(NR2E3):c.1118T>C (p.Leu373Pro)	NR2E3 (L373P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1168022	NM_014249.4(NR2E3):c.1146T>G (p.Thr382=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1072667	NM_014249.4(NR2E3):c.250C>T (p.Gln84Ter)	NR2E3 (Q84*)	Single nucleotide variant (nonsense)	Enhanced S-cone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1068708	NM_014249.4(NR2E3):c.241dup (p.Tyr81fs)	NR2E3 (Y81fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1068080	NM_014249.4(NR2E3):c.925C>G (p.Arg309Gly)	NR2E3 (R309G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1067320	NM_014249.4(NR2E3):c.572-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1066424	NM_014249.4(NR2E3):c.349+5G>C	NR2E3	Single nucleotide variant (intron variant)	Enhanced S-cone syndrome +1 more	GLikely pathogenic
Select item 1065725	NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg)	NR2E3 (G51R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1060772	NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr)	NR2E3 (A117T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +1 more	GConflicting classifications of pathogenicity
Select item 1047404	NM_014249.4(NR2E3):c.1055T>C (p.Met352Thr)	NR2E3 (M352T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038959	NM_014249.4(NR2E3):c.674C>A (p.Ala225Asp)	NR2E3 (A225D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037685	NM_014249.4(NR2E3):c.1179G>T (p.Lys393Asn)	NR2E3 (K393N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036822	NM_014249.4(NR2E3):c.37G>T (p.Val13Leu)	NR2E3 (V13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030312	NM_014249.4(NR2E3):c.1233G>A (p.Ter411=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021352	NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala)	NR2E3 (V342A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1002004	NM_014249.4(NR2E3):c.473G>A (p.Arg158Gln)	NR2E3 (R158Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001885	NM_014249.4(NR2E3):c.788T>C (p.Leu263Pro)	NR2E3 (L263P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1001884	NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys)	NR2E3 (R48C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 999611	NM_014249.4(NR2E3):c.304G>T (p.Ala102Ser)	NR2E3 (A102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991932	NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys)	NR2E3 (E222K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 37 +3 more	GUncertain significance
Select item 991922	NM_014249.4(NR2E3):c.229C>T (p.Arg77Trp)	NR2E3 (R77W)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +1 more	GConflicting classifications of pathogenicity
Select item 972668	NM_014249.4(NR2E3):c.874C>T (p.Arg292Trp)	NR2E3 (R292W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970775	NM_014249.4(NR2E3):c.1096G>A (p.Val366Met)	NR2E3 (V366M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 970722	NM_014249.4(NR2E3):c.425G>A (p.Arg142Gln)	NR2E3 (R142Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969921	NM_014249.4(NR2E3):c.791G>A (p.Gly264Glu)	NR2E3 (G264E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 967520	NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu)	NR2E3 (P376L)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 965267	NM_014249.4(NR2E3):c.1149G>A (p.Ala383=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 964873	NM_014249.4(NR2E3):c.1184T>C (p.Ile395Thr)	NR2E3 (I395T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964615	NM_014249.4(NR2E3):c.595A>G (p.Ser199Gly)	NR2E3 (S199G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 963680	NM_014249.4(NR2E3):c.95G>A (p.Trp32Ter)	NR2E3 (W32*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 956009	NM_014249.4(NR2E3):c.469C>G (p.Pro157Ala)	NR2E3 (P157A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954737	NM_014249.4(NR2E3):c.994+6T>C	NR2E3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 954495	NM_014249.4(NR2E3):c.740G>A (p.Arg247Gln)	NR2E3 (R247Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 952420	NM_014249.4(NR2E3):c.223G>A (p.Val75Ile)	NR2E3 (V75I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 943276	NM_014249.4(NR2E3):c.1198A>G (p.Met400Val)	NR2E3 (M400V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942544	NM_014249.4(NR2E3):c.2T>G (p.Met1Arg)	NR2E3 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 938992	NM_014249.4(NR2E3):c.449C>A (p.Pro150Gln)	NR2E3 (P150Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 938336	NM_014249.4(NR2E3):c.360C>A (p.Asn120Lys)	NR2E3 (N120K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938262	NM_014249.4(NR2E3):c.641C>T (p.Pro214Leu)	NR2E3 (P214L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932078	NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln)	NR2E3 (R334Q)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +1 more	GUncertain significance
Select item 888478	NM_014249.4(NR2E3):c.428C>T (p.Pro143Leu)	NR2E3 (P143L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 888357	NM_014249.3(NR2E3):c.-210C>T	NR2E3	Single nucleotide variant	Retinitis pigmentosa +2 more	GLikely benign
Select item 887532	NM_014249.4(NR2E3):c.*400G>C	NR2E3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 887531	NM_014249.4(NR2E3):c.*330C>G	NR2E3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 887281	NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser)	NR2E3 (G287S)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GUncertain significance
Select item 887280	NM_014249.4(NR2E3):c.844G>A (p.Glu282Lys)	NR2E3 (E282K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 886340	NM_014249.4(NR2E3):c.*54G>A	NR2E3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 886218	NM_014249.4(NR2E3):c.349+15G>A	NR2E3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886142	NM_014249.4(NR2E3):c.143G>A (p.Arg48His)	NR2E3 (R48H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 885314	NM_014249.4(NR2E3):c.348C>T (p.Asp116=)	NR2E3	Single nucleotide variant (synonymous variant)	Enhanced S-cone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 885248	NM_014249.4(NR2E3):c.24G>A (p.Leu8=)	NR2E3	Single nucleotide variant (synonymous variant)	Enhanced S-cone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 884377	NM_014249.4(NR2E3):c.*546A>G	NR2E3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 884376	NM_014249.4(NR2E3):c.*489A>G	NR2E3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 884375	NM_014249.4(NR2E3):c.*431C>T	NR2E3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance

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