EYS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 148991	GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3	ADGRB3, ADGRB3-DT +105 more	Copy number gain	See cases	GPathogenic
Select item 148291	GRCh38/hg38 6q12(chr6:63719407-64994324)x3	EYS, LOC113175011 +9 more	Copy number gain	See cases	GLikely benign
Select item 910562	NM_001142800.2(EYS):c.*554A>G	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 910563	NM_001142800.2(EYS):c.*548G>A	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 357682	NM_001142800.2(EYS):c.*529A>C	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 910564	NM_001142800.2(EYS):c.*514A>G	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 357683	NM_001142800.2(EYS):c.*412del	EYS, PHF3	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 910565	NM_001142800.2(EYS):c.*286T>A	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 910566	NM_001142800.2(EYS):c.*278T>C	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 910567	NM_001142800.2(EYS):c.*189T>C	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 357684	NM_001142800.2(EYS):c.*98A>G	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 3015254	NM_001142800.2(EYS):c.9434A>G (p.Ter3145=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1519786	NM_001142800.2(EYS):c.9433T>G (p.Ter3145Glu)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2167040	NM_001142800.2(EYS):c.9432A>G (p.Thr3144=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 856774	NM_001142800.2(EYS):c.9432del (p.Ter3145LysextTer?)	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1065748	NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs)	EYS, PHF3 (T3144fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1948618	NM_001142800.2(EYS):c.9427G>A (p.Val3143Ile)	EYS, PHF3 (V3143I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1129211	NM_001142800.2(EYS):c.9423T>C (p.Asn3141=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1060432	NM_001142800.2(EYS):c.9420A>C (p.Gln3140His)	EYS, PHF3 (Q3140H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2825432	NM_001142800.2(EYS):c.9417A>G (p.Glu3139=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1900068	NM_001142800.2(EYS):c.9410_9415del (p.Gly3137_Asp3138del)	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 964717	NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu)	EYS, PHF3 (D3138E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1133623	NM_001142800.2(EYS):c.9408T>C (p.Asp3136=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1626869	NM_001142800.2(EYS):c.9405T>C (p.Tyr3135=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 560452	NM_001142800.1(EYS):c.[3906C>A;9405T>A]	EYS, PHF3 (Y3156* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinitis pigmentosa 25	GPathogenic
Select item 538	NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	EYS, PHF3 (Y3156* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 3062179	NM_001142800.2(EYS):c.9402_9403insGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Tyr3135delinsGlyGlyIleSerAlaHisCysLysLeuArgLeuProGlySerArgHisSerProAlaSerAlaSerGlnGlyAlaGlyThrThrGlyAlaArgHisTyrAlaArgLeuIlePheCysIlePheSerArgAspGlyValSerProPheTer)	EYS, PHF3	Insertion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 2527723	NM_001142800.2(EYS):c.9403T>C (p.Tyr3135His)	EYS, PHF3 (Y3135H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1455537	NM_001142800.2(EYS):c.9402_9403insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGGATACAATGTT (p.Tyr3135fs)	EYS, PHF3 (Y3156fs +1 more)	Insertion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1412218	NM_001142800.2(EYS):c.9401T>C (p.Val3134Ala)	EYS, PHF3 (V3155A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 283385	NM_001142800.2(EYS):c.9400del (p.Val3134fs)	EYS, PHF3 (V3134fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2852937	NM_001142800.2(EYS):c.9399del (p.Asn3133fs)	EYS, PHF3 (N3133fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2782211	NM_001142800.2(EYS):c.9397_9398dup (p.Asn3133fs)	EYS, PHF3 (N3133fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1141167	NM_001142800.2(EYS):c.9399T>C (p.Asn3133=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 817982	NM_001142800.2(EYS):c.9380_9399del (p.Ile3127fs)	EYS, PHF3 (I3148fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1135574	NM_001142800.2(EYS):c.9396C>T (p.Tyr3132=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 867058	NM_001142800.2(EYS):c.9392G>A (p.Gly3131Glu)	EYS, PHF3 (G3152E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 444685	NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	EYS, PHF3 (G3131A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2185655	NM_001142800.2(EYS):c.9389_9391del (p.Glu3130del)	EYS, PHF3 (E3130del +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2855491	NM_001142800.2(EYS):c.9388G>T (p.Glu3130Ter)	EYS, PHF3 (E3151* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 865915	NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)	EYS, PHF3 (K3128fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2675321	NM_001142800.2(EYS):c.9380_9383del (p.Ile3127fs)	EYS, PHF3 (I3127fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2147182	NM_001142800.2(EYS):c.9381T>G (p.Ile3127Met)	EYS, PHF3 (I3127M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2127240	NM_001142800.2(EYS):c.9379A>G (p.Ile3127Val)	EYS, PHF3 (I3148V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 849255	NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)	EYS, PHF3 (I3127fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 1110929	NM_001142800.2(EYS):c.9378A>T (p.Leu3126=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1517976	NM_001142800.2(EYS):c.9372T>G (p.Ile3124Met)	EYS, PHF3 (I3124M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 964974	NM_001142800.2(EYS):c.9371T>C (p.Ile3124Thr)	EYS, PHF3 (I3124T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1545350	NM_001142800.2(EYS):c.9369C>T (p.Asn3123=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1678630	NM_001142800.2(EYS):c.9368del (p.Asn3123fs)	EYS, PHF3 (N3123fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 841960	NM_001142800.2(EYS):c.9368A>C (p.Asn3123Thr)	EYS, PHF3 (N3144T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1137201	NM_001142800.2(EYS):c.9366A>G (p.Lys3122=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 841729	NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)	EYS, PHF3 (Q3119fs +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 1455188	NM_001142800.2(EYS):c.9354del (p.Gln3119fs)	EYS, PHF3 (Q3119fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1092075	NM_001142800.2(EYS):c.9354T>C (p.Phe3118=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 836466	NM_001142800.2(EYS):c.9352T>C (p.Phe3118Leu)	EYS, PHF3 (F3118L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2675292	NM_001142800.2(EYS):c.9337_9350del (p.Lys3113fs)	EYS, PHF3 (K3113fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 2829857	NM_001142800.2(EYS):c.9348A>G (p.Val3116=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 281809	NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)	EYS, PHF3 (V3116del +1 more)	Microsatellite (inframe_deletion +1 more)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 2158313	NM_001142800.2(EYS):c.9346G>C (p.Val3116Leu)	EYS, PHF3 (V3116L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1665764	NM_001142800.2(EYS):c.9345T>C (p.Val3115=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 636032	NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)	EYS, PHF3 (V3115D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 1424403	NM_001142800.2(EYS):c.9339dup (p.Asp3114fs)	EYS, PHF3 (D3114fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 934382	NM_001142800.2(EYS):c.9338A>G (p.Lys3113Arg)	EYS, PHF3 (K3113R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1092215	NM_001142800.2(EYS):c.9336T>C (p.Ile3112=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 557700	NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	EYS, PHF3 (T3106fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 1995288	NM_001142800.2(EYS):c.9333_9334del (p.Lys3111fs)	EYS, PHF3 (K3111fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1406854	NM_001142800.2(EYS):c.9334A>G (p.Ile3112Val)	EYS, PHF3 (I3112V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1516149	NM_001142800.2(EYS):c.9329G>A (p.Gly3110Asp)	EYS, PHF3 (G3110D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 812310	NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala)	EYS, PHF3 (G3110A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 1133826	NM_001142800.2(EYS):c.9327T>C (p.Val3109=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2675339	NM_001142800.2(EYS):c.9324_9326delinsGG (p.Phe3108fs)	EYS, PHF3 (F3108fs +1 more)	Indel (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3019489	NM_001142800.2(EYS):c.9324T>C (p.Phe3108=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3008202	NM_001142800.2(EYS):c.9321T>C (p.Asn3107=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2982046	NM_001142800.2(EYS):c.9316del (p.Thr3106fs)	EYS, PHF3 (T3106fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2765165	NM_001142800.2(EYS):c.9313A>T (p.Lys3105Ter)	EYS, PHF3 (K3126* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1070119	NM_001142800.2(EYS):c.9019_9307delinsTTTTTTTAAAATTTTTTTTAAAATTGGT (p.Asp3007_Ile3103delinsPhePheTer)	EYS, PHF3	Indel (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2165711	NM_001142800.2(EYS):c.9304G>A (p.Glu3102Lys)	EYS, PHF3 (E3102K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2843306	NM_001142800.2(EYS):c.9303A>G (p.Gln3101=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2098392	NM_001142800.2(EYS):c.9302_9303del (p.Gln3101fs)	EYS, PHF3 (Q3122fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 802230	NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	EYS, PHF3 (T3100fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2675233	NM_001142800.2(EYS):c.9301C>T (p.Gln3101Ter)	EYS, PHF3 (Q3101* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2032207	NM_001142800.2(EYS):c.9300T>C (p.Thr3100=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1092906	NM_001142800.2(EYS):c.9300T>G (p.Thr3100=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 289906	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS, PHF3 (V3117fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 1089879	NM_001142800.2(EYS):c.9294C>T (p.Ile3098=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2850660	NM_001142800.2(EYS):c.9293del (p.Ile3098fs)	EYS, PHF3 (I3098fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3015650	NM_001142800.2(EYS):c.9291T>C (p.Asn3097=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1940613	NM_001142800.2(EYS):c.9288A>G (p.Val3096=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1392195	NM_001142800.2(EYS):c.9285_9286del (p.Lys3095fs)	EYS, PHF3 (K3116fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1097744	NM_001142800.2(EYS):c.9285G>A (p.Lys3095=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1956290	NM_001142800.2(EYS):c.9280A>G (p.Arg3094Gly)	EYS, PHF3 (R3115G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1439470	NM_001142800.2(EYS):c.9279T>C (p.Gly3093=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 224759	NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)	EYS, PHF3 (R3115fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3241494	NM_001142800.2(EYS):c.9278del (p.Gly3093fs)	EYS, PHF3 (G3093fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 1080454	NM_001142800.2(EYS):c.9276T>C (p.Tyr3092=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2764681	NM_001142800.2(EYS):c.9240_9273del (p.Tyr3081fs)	EYS, PHF3 (Y3081fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1039162	NM_001142800.2(EYS):c.9272A>C (p.Glu3091Ala)	EYS, PHF3 (E3112A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1044034	NM_001142800.2(EYS):c.9269T>C (p.Phe3090Ser)	EYS, PHF3 (F3090S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

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