EYS[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2918245	NM_001142800.2(EYS):c.8233+19_8233+20del	EYS	Deletion (intron variant)	not provided	GLikely benign
Select item 2918246	NM_001142800.2(EYS):c.8233+18T>C	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016940	NM_001142800.2(EYS):c.8233+17G>C	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567268	NM_001142800.2(EYS):c.8233+17G>A	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907318	NM_001142800.2(EYS):c.8233+15C>T	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990438	NM_001142800.2(EYS):c.8233+9G>A	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 357688	NM_001142800.2(EYS):c.8233+8T>G	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1085851	NM_001142800.2(EYS):c.8233+7T>C	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 865824	NM_001142800.2(EYS):c.8233+1G>C	EYS	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 834824	NM_001142800.2(EYS):c.8233+1del	EYS	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1038035	NM_001142800.2(EYS):c.8230T>C (p.Ser2744Pro)	EYS (S2744P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642720	NM_001142800.2(EYS):c.8229A>G (p.Gln2743=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126389	NM_001142800.2(EYS):c.8223del (p.Ala2742fs)	EYS (A2742fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1570792	NM_001142800.2(EYS):c.8218T>C (p.Leu2740=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116006	NM_001142800.2(EYS):c.8217C>T (p.His2739=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450415	NM_001142800.2(EYS):c.8217C>A (p.His2739Gln)	EYS (H2739Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574023	NM_001142800.2(EYS):c.8211A>G (p.Ala2737=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 908840	NM_001142800.2(EYS):c.8211A>C (p.Ala2737=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 845265	NM_001142800.2(EYS):c.8210C>T (p.Ala2737Val)	EYS (A2737V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797475	NM_001142800.2(EYS):c.8208T>C (p.Ala2736=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 855995	NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val)	EYS (A2736V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 867109	NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)	EYS (A2757P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1591355	NM_001142800.2(EYS):c.8205T>C (p.Tyr2735=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1020539	NM_001142800.2(EYS):c.8203T>C (p.Tyr2735His)	EYS (Y2735H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200022	NM_001142800.2(EYS):c.8196_8200del (p.Phe2734fs)	EYS (F2734fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2820057	NM_001142800.2(EYS):c.8199A>G (p.Leu2733=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978222	NM_001142800.2(EYS):c.8196C>T (p.Ile2732=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071646	NM_001142800.2(EYS):c.8196C>A (p.Ile2732=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984988	NM_001142800.2(EYS):c.8193T>C (p.Gly2731=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1068977	NM_001142800.2(EYS):c.8189dup (p.Asp2730fs)	EYS (D2730fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 934424	NM_001142800.2(EYS):c.8189A>G (p.Asp2730Gly)	EYS (D2730G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618981	NM_001142800.2(EYS):c.8187A>G (p.Ala2729=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1054839	NM_001142800.2(EYS):c.8186C>T (p.Ala2729Val)	EYS (A2729V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201399	NM_001142800.2(EYS):c.8185G>A (p.Ala2729Thr)	EYS (A2729T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019931	NM_001142800.2(EYS):c.8184T>C (p.Ala2728=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126810	NM_001142800.2(EYS):c.8184T>G (p.Ala2728=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091352	NM_001142800.2(EYS):c.8183C>T (p.Ala2728Val)	EYS (A2749V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 990439	NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr)	EYS (A2728T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 736321	NM_001142800.2(EYS):c.8181C>T (p.Leu2727=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139914	NM_001142800.2(EYS):c.8178T>G (p.Pro2726=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799827	NM_001142800.2(EYS):c.8178T>C (p.Pro2726=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840694	NM_001142800.2(EYS):c.8169G>A (p.Gln2723=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 558485	NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	EYS (Q2744fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812313	NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter)	EYS (Q2723* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 2876530	NM_001142800.2(EYS):c.8164T>C (p.Leu2722=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990440	NM_001142800.2(EYS):c.8163A>G (p.Gln2721=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715394	NM_001142800.2(EYS):c.8162A>C (p.Gln2721Pro)	EYS (Q2721P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473307	NM_001142800.2(EYS):c.8159T>C (p.Ile2720Thr)	EYS (I2741T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453515	NM_001142800.2(EYS):c.8158_8159del (p.Ile2720fs)	EYS (I2741fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1145376	NM_001142800.2(EYS):c.8157T>C (p.His2719=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 554682	NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	EYS (H2719fs +1 more)	Microsatellite (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 3091351	NM_001142800.2(EYS):c.8155C>T (p.His2719Tyr)	EYS (H2719Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2675327	NM_001142800.2(EYS):c.8150dup (p.Thr2718fs)	EYS (T2718fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 866322	NM_001142800.2(EYS):c.8151G>A (p.Lys2717=)	EYS	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 843960	NM_001142800.2(EYS):c.8151G>T (p.Lys2717Asn)	EYS (K2738N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1076062	NM_001142800.2(EYS):c.8150del (p.Lys2717fs)	EYS (K2717fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 836619	NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)	EYS (R2736* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 1660589	NM_001142800.2(EYS):c.8139T>C (p.His2713=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 197457	NM_001142800.2(EYS):c.8138A>G (p.His2713Arg)	EYS (H2713R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 558163	NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	EYS (F2712fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 853012	NM_001142800.2(EYS):c.8128G>T (p.Ala2710Ser)	EYS (A2731S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866087	NM_001142800.2(EYS):c.8122_8125delinsG (p.Ser2708_Phe2709delinsVal)	EYS	Indel (inframe_indel)	Retinal dystrophy	GUncertain significance
Select item 1150521	NM_001142800.2(EYS):c.8124T>C (p.Ser2708=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866503	NM_001142800.2(EYS):c.8120T>G (p.Met2707Arg)	EYS (M2707R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2741509	NM_001142800.2(EYS):c.8115C>A (p.Ser2705=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1134910	NM_001142800.2(EYS):c.8115C>G (p.Ser2705=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365058	NM_001142800.2(EYS):c.8114C>G (p.Ser2705Cys)	EYS (S2705C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415853	NM_001142800.2(EYS):c.8113T>C (p.Ser2705Pro)	EYS (S2726P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632492	NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)	EYS (L2704* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 1622271	NM_001142800.2(EYS):c.8109G>A (p.Glu2703=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 853127	NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	EYS (E2703* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 812314	NM_001142800.2(EYS):c.8105del (p.Asn2702fs)	EYS (N2702fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 1039108	NM_001142800.2(EYS):c.8104A>C (p.Asn2702His)	EYS (N2723H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374211	NM_001142800.2(EYS):c.8102del (p.Ser2701fs)	EYS (S2722fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2141927	NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)	EYS (R2721* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2844091	NM_001142800.2(EYS):c.8092T>C (p.Ser2698Pro)	EYS (S2719P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354031	NM_001142800.2(EYS):c.8092T>A (p.Ser2698Thr)	EYS (S2719T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759693	NM_001142800.2(EYS):c.8088T>C (p.Asp2696=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 965108	NM_001142800.2(EYS):c.8088T>A (p.Asp2696Glu)	EYS (D2696E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2900818	NM_001142800.2(EYS):c.8082A>C (p.Ile2694=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 942995	NM_001142800.2(EYS):c.8081T>G (p.Ile2694Arg)	EYS (I2694R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197456	NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val)	EYS (I2694V +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 2694020	NM_001142800.2(EYS):c.8072-1G>T	EYS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2675262	NM_001142800.2(EYS):c.8072-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1439227	NM_001142800.2(EYS):c.8072-5C>A	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1117624	NM_001142800.2(EYS):c.8072-6C>T	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794898	NM_001142800.2(EYS):c.8072-13C>G	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816199	NM_001142800.2(EYS):c.8072-15C>T	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824985	NM_001142800.2(EYS):c.8072-17T>C	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965626	NM_001142800.2(EYS):c.8072-19_8072-18del	EYS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2877262	NM_001142800.2(EYS):c.8072-18T>C	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050774	NM_001142800.2(EYS):c.8072-15237G>C	EYS (K2710N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1246986	NM_001142800.2(EYS):c.8071+84T>G	EYS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2996163	NM_001142800.2(EYS):c.8071+17A>G	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815380	NM_001142800.2(EYS):c.8071+7C>A	EYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167722	NM_001142800.2(EYS):c.8071+5G>A	EYS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1009495	NM_001142800.2(EYS):c.8071+3G>A	EYS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2675274	NM_001142800.2(EYS):c.8071+2del	EYS	Deletion (splice donor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2904801	NM_001142800.2(EYS):c.8064T>C (p.Cys2688=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149794	NM_001142800.2(EYS):c.8061C>T (p.Tyr2687=)	EYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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