"Ambry Genetics"[submitter] AND "EYS"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1000930	NM_001142800.2(EYS):c.9263G>A (p.Gly3088Glu)	EYS, PHF3 (G3088E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2539743	NM_001142800.2(EYS):c.9167T>C (p.Ile3056Thr)	EYS, PHF3 (I3077T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285626	NM_001142800.2(EYS):c.9101A>C (p.Tyr3034Ser)	EYS, PHF3 (Y3034S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1404771	NM_001142800.2(EYS):c.9070T>G (p.Leu3024Val)	EYS, PHF3 (L3024V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2527722	NM_001142800.2(EYS):c.9048G>C (p.Gln3016His)	EYS, PHF3 (Q3037H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1400097	NM_001142800.2(EYS):c.8875T>C (p.Phe2959Leu)	EYS, PHF3 (F2980L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 809962	NM_001142800.2(EYS):c.8861T>A (p.Phe2954Tyr)	EYS, PHF3 (F2975Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 2155460	NM_001142800.2(EYS):c.8758C>A (p.Leu2920Ile)	EYS, PHF3 (L2941I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 963184	NM_001142800.2(EYS):c.8723A>G (p.Asn2908Ser)	EYS, PHF3 (N2908S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1494410	NM_001142800.2(EYS):c.8626G>A (p.Gly2876Arg)	EYS, PHF3 (G2876R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2286226	NM_001142800.2(EYS):c.8593G>A (p.Ala2865Thr)	EYS, PHF3 (A2865T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2153119	NM_001142800.2(EYS):c.8587T>C (p.Phe2863Leu)	EYS, PHF3 (F2884L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2251717	NM_001142800.2(EYS):c.8500C>T (p.Pro2834Ser)	EYS, PHF3 (P2834S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320578	NM_001142800.2(EYS):c.8441C>A (p.Ser2814Tyr)	EYS, PHF3 (S2835Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091353	NM_001142800.2(EYS):c.8291G>T (p.Gly2764Val)	EYS, PHF3 (G2785V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1349628	NM_001142800.2(EYS):c.8279G>A (p.Arg2760His)	EYS, PHF3 (R2760H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 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 2058284	NM_001142800.2(EYS):c.7973C>T (p.Pro2658Leu)	EYS (P2658L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2258654	NM_001142800.2(EYS):c.7903A>G (p.Asn2635Asp)	EYS (N2635D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1374378	NM_001142800.2(EYS):c.7823A>G (p.Gln2608Arg)	EYS (Q2608R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866973	NM_001142800.2(EYS):c.7748G>A (p.Arg2583His)	EYS (R2583H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 950855	NM_001142800.2(EYS):c.7744G>A (p.Val2582Ile)	EYS (V2582I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2549213	NM_001142800.2(EYS):c.7630C>T (p.Leu2544Phe)	EYS (L2544F)	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 841265	NM_001142800.2(EYS):c.7459G>A (p.Val2487Met)	EYS (V2487M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 624251	NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys)	EYS (N2452K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3091349	NM_001142800.2(EYS):c.7324T>C (p.Tyr2442His)	EYS (Y2442H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 967943	NM_001142800.2(EYS):c.7222A>G (p.Thr2408Ala)	EYS (T2408A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2311467	NM_001142800.2(EYS):c.7174A>C (p.Thr2392Pro)	EYS (T2392P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991096	NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg)	EYS (G2391R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1518308	NM_001142800.2(EYS):c.7112A>G (p.Gln2371Arg)	EYS (Q2371R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 357695	NM_001142800.2(EYS):c.7034G>A (p.Arg2345His)	EYS (R2345H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 910624	NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu)	EYS (I2321L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 2441312	NM_001142800.2(EYS):c.6904G>C (p.Val2302Leu)	EYS (V2302L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 2259592	NM_001142800.2(EYS):c.6898G>C (p.Gly2300Arg)	EYS (G2300R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2048552	NM_001142800.2(EYS):c.6839A>G (p.Tyr2280Cys)	EYS (Y2280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2070107	NM_001142800.2(EYS):c.6734C>T (p.Thr2245Met)	EYS (T2245M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1403768	NM_001142800.2(EYS):c.6646T>C (p.Cys2216Arg)	EYS (C2216R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991108	NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser)	EYS (N2192S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GConflicting classifications of pathogenicity
Select item 2485923	NM_001142800.2(EYS):c.6572G>A (p.Ser2191Asn)	EYS (S2191N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 423063	NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly)	EYS (S2183G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 859118	NM_001142800.2(EYS):c.6409C>T (p.Arg2137Cys)	EYS (R2137C)	Single nucleotide variant (missense variant)	not provided +1 more	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 1026338	NM_001142800.2(EYS):c.6316G>T (p.Asp2106Tyr)	EYS (D2106Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3091348	NM_001142800.2(EYS):c.6244G>A (p.Val2082Met)	EYS (V2082M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091347	NM_001142800.2(EYS):c.6079A>T (p.Met2027Leu)	EYS (M2027L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091346	NM_001142800.2(EYS):c.6044T>C (p.Ile2015Thr)	EYS (I2015T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992115	NM_001142800.2(EYS):c.6043A>G (p.Ile2015Val)	EYS (I2015V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 167048	NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)	EYS (K2009E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 3091345	NM_001142800.2(EYS):c.6002A>T (p.His2001Leu)	EYS (H2001L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164462	NM_001142800.2(EYS):c.5989G>A (p.Glu1997Lys)	EYS (E1997K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 992116	NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser)	EYS (N1992S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GUncertain significance
Select item 966406	NM_001142800.2(EYS):c.5950G>A (p.Ala1984Thr)	EYS (A1984T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1153253	NM_001142800.2(EYS):c.5901C>T (p.Asn1967=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 167049	NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly)	EYS (D1926G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2147105	NM_001142800.2(EYS):c.5714A>G (p.Asn1905Ser)	EYS (N1905S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2535037	NM_001142800.2(EYS):c.5669G>T (p.Gly1890Val)	EYS (G1890V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 840323	NM_001142800.2(EYS):c.5654G>T (p.Cys1885Phe)	EYS (C1885F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 965531	NM_001142800.2(EYS):c.5567G>A (p.Arg1856Gln)	EYS (R1856Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2489205	NM_001142800.2(EYS):c.5410A>G (p.Ile1804Val)	EYS (I1804V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552452	NM_001142800.2(EYS):c.5396C>G (p.Thr1799Ser)	EYS (T1799S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066746	NM_001142800.2(EYS):c.5356G>A (p.Glu1786Lys)	EYS (E1786K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 857822	NM_001142800.2(EYS):c.5330T>C (p.Leu1777Ser)	EYS (L1777S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1407006	NM_001142800.2(EYS):c.5296C>T (p.His1766Tyr)	EYS (H1766Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2144681	NM_001142800.2(EYS):c.5293A>G (p.Thr1765Ala)	EYS (T1765A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2327350	NM_001142800.2(EYS):c.5279C>A (p.Thr1760Lys)	EYS (T1760K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320527	NM_001142800.2(EYS):c.5266G>A (p.Val1756Ile)	EYS (V1756I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556309	NM_001142800.2(EYS):c.5212C>T (p.His1738Tyr)	EYS (H1738Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323487	NM_001142800.2(EYS):c.5181A>C (p.Lys1727Asn)	EYS (K1727N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482948	NM_001142800.2(EYS):c.5137C>T (p.Pro1713Ser)	EYS (P1713S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1060350	NM_001142800.2(EYS):c.5133G>A (p.Met1711Ile)	EYS (M1711I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 3091342	NM_001142800.2(EYS):c.5029G>T (p.Asp1677Tyr)	EYS (D1677Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966514	NM_001142800.2(EYS):c.4964T>C (p.Leu1655Ser)	EYS (L1655S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2154762	NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)	EYS (S1648Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1949680	NM_001142800.2(EYS):c.4880C>T (p.Pro1627Leu)	EYS (P1627L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3091341	NM_001142800.2(EYS):c.4813A>T (p.Ile1605Phe)	EYS (I1605F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320666	NM_001142800.2(EYS):c.4807C>G (p.Gln1603Glu)	EYS (Q1603E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091340	NM_001142800.2(EYS):c.4789T>G (p.Tyr1597Asp)	EYS (Y1597D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411143	NM_001142800.2(EYS):c.4772C>T (p.Ala1591Val)	EYS (A1591V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548606	NM_001142800.2(EYS):c.4730G>A (p.Ser1577Asn)	EYS (S1577N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970147	NM_001142800.2(EYS):c.4718A>C (p.Gln1573Pro)	EYS (Q1573P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2172102	NM_001142800.2(EYS):c.4702C>T (p.Arg1568Cys)	EYS (R1568C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 971681	NM_001142800.2(EYS):c.4640A>G (p.Asp1547Gly)	EYS (D1547G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3091339	NM_001142800.2(EYS):c.4633G>C (p.Ala1545Pro)	EYS (A1545P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566068	NM_001142800.2(EYS):c.4563C>A (p.Phe1521Leu)	EYS (F1521L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458604	NM_001142800.2(EYS):c.4553C>T (p.Thr1518Ile)	EYS (T1518I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2170390	NM_001142800.2(EYS):c.4510C>G (p.Gln1504Glu)	EYS (Q1504E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2238347	NM_001142800.2(EYS):c.4495G>T (p.Val1499Leu)	EYS (V1499L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091337	NM_001142800.2(EYS):c.4466C>G (p.Pro1489Arg)	EYS (P1489R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 947973	NM_001142800.2(EYS):c.4409A>T (p.Glu1470Val)	EYS (E1470V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2147698	NM_001142800.2(EYS):c.4406T>C (p.Ile1469Thr)	EYS (I1469T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2153623	NM_001142800.2(EYS):c.4397A>G (p.Gln1466Arg)	EYS (Q1466R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 724735	NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser)	EYS (T1422S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1911897	NM_001142800.2(EYS):c.4217C>G (p.Thr1406Arg)	EYS (T1406R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1062065	NM_001142800.2(EYS):c.4216A>G (p.Thr1406Ala)	EYS (T1406A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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