ClinVar for Gene (Select 346007) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3511181	NM_001142800.2(EYS):c.7814G>A (p.Ser2605Asn)	EYS (S2605N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511180	NM_001142800.2(EYS):c.7622T>G (p.Leu2541Arg)	EYS (L2541R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511179	NM_001142800.2(EYS):c.2819A>C (p.Asn940Thr)	EYS (N940T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511178	NM_001142800.2(EYS):c.9167T>A (p.Ile3056Asn)	EYS, PHF3 (I3056N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3511177	NM_001142800.2(EYS):c.2015G>A (p.Gly672Glu)	EYS (G672E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511176	NM_001142800.2(EYS):c.5546A>T (p.Gln1849Leu)	EYS (Q1849L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511175	NM_001142800.2(EYS):c.943G>T (p.Ala315Ser)	EYS (A315S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511174	NM_001142800.2(EYS):c.5954A>G (p.Glu1985Gly)	EYS (E1985G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511173	NM_001142800.2(EYS):c.1363C>A (p.His455Asn)	EYS (H455N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511172	NM_001142800.2(EYS):c.8272C>A (p.Gln2758Lys)	EYS, PHF3 (Q2758K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3511171	NM_001142800.2(EYS):c.4876G>A (p.Val1626Met)	EYS (V1626M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511170	NM_001142800.2(EYS):c.8414C>T (p.Thr2805Ile)	EYS, PHF3 (T2826I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3511169	NM_001142800.2(EYS):c.8338G>C (p.Gly2780Arg)	EYS, PHF3 (G2780R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3511168	NM_001142800.2(EYS):c.1526A>C (p.Glu509Ala)	EYS (E509A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511165	NM_001142800.2(EYS):c.2603C>T (p.Ala868Val)	EYS (A868V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511164	NM_001142800.2(EYS):c.6611T>G (p.Phe2204Cys)	EYS (F2204C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511163	NM_001142800.2(EYS):c.7045A>G (p.Thr2349Ala)	EYS (T2349A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511162	NM_001142800.2(EYS):c.4208T>G (p.Ile1403Ser)	EYS (I1403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511161	NM_001142800.2(EYS):c.2159T>C (p.Leu720Ser)	EYS (L720S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511159	NM_001142800.2(EYS):c.5037G>T (p.Met1679Ile)	EYS (M1679I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511157	NM_001142800.2(EYS):c.6656C>T (p.Ser2219Phe)	EYS (S2219F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511155	NM_001142800.2(EYS):c.3594T>G (p.Asn1198Lys)	EYS (N1198K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3392047	GRCh37/hg19 6q11.1-12(chr6:63139149-64461593)x3	EYS, LGSN +2 more	Copy number gain	not provided	GUncertain significance
Select item 3389827	NM_001142800.2(EYS):c.3681dup (p.Met1228fs)	EYS (M1228fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3385117	NM_001142800.2(EYS):c.8096T>C (p.Phe2699Ser)	EYS (F2699S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3382389	NM_001142800.2(EYS):c.5929C>T (p.Gln1977Ter)	EYS (Q1977*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 3381792	NM_001142800.2(EYS):c.8050A>C (p.Thr2684Pro)	EYS (T2684P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381790	NM_001142800.2(EYS):c.5918dup (p.Leu1974fs)	EYS (L1974fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3366482	NC_000006.11:g.(65532716_65596589)_(65707597_65767506)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 3351053	NM_001142800.2(EYS):c.4330C>T (p.Leu1444Phe)	EYS (L1444F)	Single nucleotide variant (missense variant)	EYS-related disorder	GUncertain significance
Select item 3347056	NM_001142800.2(EYS):c.4913G>C (p.Arg1638Thr)	EYS (R1638T)	Single nucleotide variant (missense variant)	EYS-related disorder	GUncertain significance
Select item 3342103	NM_001142800.2(EYS):c.1201A>G (p.Thr401Ala)	EYS (T401A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339321	NM_001142800.2(EYS):c.2381+3G>A	EYS	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339116	NC_000006.11:g.(65098734_65146066)_(65149246_65300115)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 3337996	NM_001142800.2(EYS):c.7923del (p.Gly2642fs)	EYS (G2642fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 3276909	NM_001142800.2(EYS):c.472C>T (p.Pro158Ser)	EYS (P158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276908	NM_001142800.2(EYS):c.2553C>A (p.Asn851Lys)	EYS (N851K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276907	NM_001142800.2(EYS):c.3872A>C (p.Asp1291Ala)	EYS (D1291A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276906	NM_001142800.2(EYS):c.50C>G (p.Ser17Cys)	EYS (S17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276904	NM_001142800.2(EYS):c.1723T>C (p.Cys575Arg)	EYS (C575R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276903	NM_001142800.2(EYS):c.1558A>G (p.Asn520Asp)	EYS (N520D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276902	NM_001142800.2(EYS):c.1927G>T (p.Asp643Tyr)	EYS (D643Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276901	NM_001142800.2(EYS):c.7540G>A (p.Val2514Ile)	EYS (V2514I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276900	NM_001142800.2(EYS):c.2777A>C (p.Glu926Ala)	EYS (E926A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276899	NM_001142800.2(EYS):c.3683T>C (p.Met1228Thr)	EYS (M1228T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276898	NM_001142800.2(EYS):c.5036T>C (p.Met1679Thr)	EYS (M1679T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276896	NM_001142800.2(EYS):c.6378C>G (p.Phe2126Leu)	EYS (F2126L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251429	NM_001142800.2(EYS):c.5886T>C (p.Thr1962=)	EYS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3250342	NM_001142800.2:c.(6191+1_6192-1)_(6424+1_6425-1)dup	EYS	Duplication	Retinal dystrophy	GPathogenic
Select item 3250337	NC_000006.12:g.(65402477_65384501)_(65495411_?)del	EYS	Deletion	Retinal dystrophy	GPathogenic
Select item 3250299	NM_001142800.2(EYS):c.8122T>C (p.Ser2708Pro)	EYS (S2708P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3250243	NM_001142800.2:c.(5835+1_5836-1294)_(6078+1_6079-1)dup	EYS	Duplication	Retinal dystrophy	GLikely pathogenic
Select item 3250216	NM_001142800.2(EYS):c.5129del (p.Thr1710fs)	EYS (T1710fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3250215	NM_001142800.2(EYS):c.9100_9103del (p.Tyr3034fs)	EYS, PHF3 (Y3034fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3250011	NM_001142800.2:c.(2023+1_2024-1)_(2992+1_2993-1)del	EYS	Deletion	Retinal dystrophy	GPathogenic
Select item 3249861	NM_001142800.2:c.(1766+1_1767-1)_(2023+1_2024-1)del	EYS	Deletion	Retinal dystrophy	GPathogenic
Select item 3249857	NM_001142800.2(EYS):c.3167G>T (p.Cys1056Phe)	EYS (C1056F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249838	NM_001142800.2(EYS):c.5319_5342del (p.Asn1773_Val1781delinsLys)	EYS	Deletion (inframe_indel)	Retinal dystrophy	GLikely pathogenic
Select item 3249803	NM_001142800.2(EYS):c.9349_9358del (p.Phe3117fs)	EYS, PHF3 (F3117fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249745	NM_001142800.2(EYS):c.9053T>G (p.Leu3018Trp)	EYS, PHF3 (L3018W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3249736	NM_001142800.2(EYS):c.1697A>C (p.Asn566Thr)	EYS (N566T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249686	NM_001142800.2(EYS):c.6331G>A (p.Gly2111Arg)	EYS (G2111R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249685	NM_001142800.2(EYS):c.5188G>A (p.Gly1730Arg)	EYS (G1730R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249659	NM_001142800.2(EYS):c.1529A>G (p.Asp510Gly)	EYS (D510G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249624	NM_001142800.2(EYS):c.4786T>G (p.Trp1596Gly)	EYS (W1596G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249621	NM_001142800.2(EYS):c.9265G>A (p.Gly3089Ser)	EYS, PHF3 (G3089S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3249612	NM_001142800.2(EYS):c.9305A>G (p.Glu3102Gly)	EYS, PHF3 (E3102G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3249603	NM_001142800.2(EYS):c.6365G>T (p.Gly2122Val)	EYS (G2122V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3249565	NM_001142800.2(EYS):c.3304A>G (p.Thr1102Ala)	EYS (T1102A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249480	NM_001142800.2(EYS):c.4727A>G (p.His1576Arg)	EYS (H1576R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249471	NM_001142800.2(EYS):c.788_789del (p.His263fs)	EYS (H263fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249467	NM_001142800.2(EYS):c.150C>A (p.Cys50Ter)	EYS (C50*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3249400	NM_001142800.2(EYS):c.4815_4816delinsATAG (p.Thr1606Ter)	EYS (T1606*)	Indel (nonsense)	Retinal dystrophy	GPathogenic
Select item 3249314	NM_001142800.2(EYS):c.2799del (p.Ser934fs)	EYS (S934fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249190	NM_001142800.2(EYS):c.7131del (p.Asn2377fs)	EYS (N2377fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249158	NM_001142800.2:c.(7228+1_7229-1)_(7898+1_7899-1)dup	EYS	Duplication	Retinal dystrophy	GPathogenic
Select item 3249153	NM_001142800.2(EYS):c.8945T>C (p.Ile2982Thr)	EYS, PHF3 (I2982T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3249152	NM_001142800.2(EYS):c.6482del (p.Phe2160_Leu2161insTer)	EYS	Deletion (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3249108	NM_001142800.2(EYS):c.5546A>G (p.Gln1849Arg)	EYS (Q1849R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249094	NM_001142800.2(EYS):c.8072-12T>G	EYS	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 3249093	NM_001142800.2(EYS):c.1459+1G>T	EYS	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 3249085	NM_001142800.2(EYS):c.2923T>A (p.Cys975Ser)	EYS (C975S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3248999	NM_001142800.2(EYS):c.819dup (p.Thr274fs)	EYS (T274fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3248994	NM_001142800.2(EYS):c.7352C>G (p.Ala2451Gly)	EYS (A2451G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248989	NM_001142800.2(EYS):c.3954del (p.Leu1319fs)	EYS (L1319fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3248985	NM_001142800.2(EYS):c.3647A>C (p.Glu1216Ala)	EYS (E1216A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248984	NM_001142800.2(EYS):c.1699dup (p.Thr567fs)	EYS (T567fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3248956	NM_001142800.2(EYS):c.1376del (p.Cys459fs)	EYS (C459fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3248913	NM_001142800.2:c.(6424+1_6425-1)_(6571+1_6572-1)dup	EYS	Duplication	Retinal dystrophy	GUncertain significance
Select item 3248902	NM_001142800.2:c.(6725+1_6726-1)_(6834+1_6835-1)dup	EYS	Duplication	Retinal dystrophy	GUncertain significance
Select item 3248867	NM_001142800.2:c.(2846+1_2847-1)_(3443+1_3444-1)del	EYS	Deletion	Retinal dystrophy	GUncertain significance
Select item 3248855	NM_001142800.2(EYS):c.3612_3625del (p.Pro1204_Asn1205insTer)	EYS	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3248837	NM_001142800.2(EYS):c.1299+3A>C	EYS	Single nucleotide variant (intron variant)	Retinal dystrophy	GPathogenic
Select item 3248762	NM_001142800.2(EYS):c.8636G>A (p.Cys2879Tyr)	EYS, PHF3 (C2879Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3248755	NM_001142800.2(EYS):c.1056+5G>C	EYS	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 3248724	NM_001142800.2:c.(2023+1_2024-1)_(2259+1_2260-1)del	EYS	Deletion	Retinal dystrophy	GPathogenic
Select item 3248678	NM_001142800.2(EYS):c.2382-5T>A	EYS	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 3248653	NM_001142800.2:c.(1766+1_1767-1)_(3443+1_3444-1)del	EYS	Deletion	Retinal dystrophy	GPathogenic
Select item 3246148	NC_000006.11:g.(?_66204859)_(66217229_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246147	NC_000006.11:g.(?_64511633)_(64516181_?)del	EYS	Deletion	not provided	GLikely pathogenic

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