Unique variants in gene CEP164

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014956.4 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-21-14C>T benign r.(=) p.(=) g.117209268C>T - - - CEP164_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.10C>T VUS r.(?) p.(Arg4*) g.117209312C>T - CEP164(NM_014956.4):c.10C>T (p.R4*) - CEP164_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.79C>A benign r.(?) p.(Gln27Lys) g.117209381C>A - CEP164(NM_014956.4):c.79C>A (p.Q27K) - CEP164_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.82+166T>G benign r.(=) p.(=) g.117209550T>G - CEP164(NM_014956.4):c.82+166T>G - CEP164_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.162C>T benign r.(?) p.(=) g.117214961C>T - CEP164(NM_014956.4):c.162C>T (p.I54=) - CEP164_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.190C>G VUS r.(?) p.(Pro64Ala) g.117214989C>G - CEP164(NM_014956.4):c.190C>G (p.P64A) - CEP164_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.194+20G>A benign r.(=) p.(=) g.117215013G>A - CEP164(NM_014956.4):c.194+20G>A - CEP164_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.195-52del benign r.(=) p.(=) g.117222454del - CEP164(NM_014956.4):c.195-52delT - CEP164_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.195-9dup benign r.(=) p.(=) g.117222497dup - CEP164(NM_014956.4):c.195-9dupC - CEP164_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.237C>T benign r.(?) p.(=) g.117222548C>T - CEP164(NM_014956.4):c.237C>T (p.N79=) - CEP164_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 5 c.277C>T - r.(?) p.(Arg93Trp) g.117222588C>T g.117351872C>T g.37316C>T - CEP164_000001 - - - - Germline yes - - - - Muhammad Ajmal
-/. 2 - c.281G>A benign r.(?) p.(Ser94Asn) g.117222592G>A - CEP164(NM_014956.4):c.281G>A (p.S94N) - CEP164_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 1 - c.339A>G benign r.(?) p.(=) g.117222650A>G - CEP164(NM_014956.4):c.339A>G (p.K113=) - CEP164_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.347del benign r.(?) p.(Lys116Argfs*22) g.117222658del - CEP164(NM_014956.4):c.347delA (p.K116Rfs*22) - CEP164_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.347dup benign r.(?) p.(Glu117Glyfs*88) g.117222658dup - CEP164(NM_014956.4):c.347dupA (p.E117Gfs*88) - CEP164_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.380C>A VUS r.(?) p.(Pro127His) g.117222691C>A - CEP164(NM_014956.4):c.380C>A (p.P127H) - CEP164_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.395C>G benign r.(?) p.(Ala132Gly) g.117232552C>G - CEP164(NM_014956.4):c.395C>G (p.A132G) - CEP164_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.458T>C VUS r.(?) p.(Leu153Pro) g.117232615T>C - CEP164(NM_014956.4):c.458T>C (p.L153P) - CEP164_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.499G>A VUS r.(?) p.(Val167Met) g.117232656G>A - CEP164(NM_014956.4):c.499G>A (p.V167M) - CEP164_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.548T>A likely benign r.(?) p.(Met183Lys) g.117232705T>A - CEP164(NM_014956.4):c.548T>A (p.M183K) - CEP164_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.688-7T>C likely benign r.(=) p.(=) g.117234138T>C - CEP164(NM_014956.4):c.688-7T>C - CEP164_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.696C>T benign r.(?) p.(=) g.117234153C>T - CEP164(NM_014956.4):c.696C>T (p.H232=) - CEP164_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.748G>A benign r.(?) p.(Gly250Ser) g.117234205G>A - CEP164(NM_014956.4):c.748G>A (p.G250S) - CEP164_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1026C>G benign r.(?) p.(=) g.117242056C>G - CEP164(NM_014956.4):c.1026C>G (p.A342=) - CEP164_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1153-15G>T likely benign r.(=) p.(=) g.117244452G>T - CEP164(NM_014956.4):c.1153-15G>T - CEP164_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1158G>A likely benign r.(?) p.(=) g.117244472G>A - CEP164(NM_014956.4):c.1158G>A (p.L386=) - CEP164_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1220C>T VUS r.(?) p.(Ser407Phe) g.117244534C>T - CEP164(NM_014956.4):c.1220C>T (p.S407F) - CEP164_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1230C>T likely benign r.(?) p.(=) g.117244544C>T - CEP164(NM_014956.4):c.1230C>T (p.G410=) - CEP164_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1260G>A likely benign r.(?) p.(=) g.117246450G>A - CEP164(NM_014956.4):c.1260G>A (p.S420=) - CEP164_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1318-14C>T benign r.(=) p.(=) g.117251316C>T - CEP164(NM_014956.4):c.1318-14C>T - CEP164_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1430A>G benign r.(?) p.(His477Arg) g.117252437A>G - CEP164(NM_014956.4):c.1430A>G (p.H477R) - CEP164_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1480C>A benign r.(?) p.(Pro494Thr) g.117252487C>A - CEP164(NM_014956.4):c.1480C>A (p.P494T) - CEP164_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1481dup pathogenic r.(?) p.(Pro495Serfs*43) g.117252488dup - CEP164(NM_014956.4):c.1481dupC (p.P495Sfs*43) - CEP164_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1482T>C benign r.(?) p.(=) g.117252489T>C - CEP164(NM_014956.4):c.1482T>C (p.P494=) - CEP164_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.1484C>G benign r.(?) p.(Pro495Arg) g.117252491C>G - CEP164(NM_014956.4):c.1484C>G (p.P495R) - CEP164_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1689G>A VUS r.(?) p.(=) g.117253623G>A - - - CEP164_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1702A>C benign r.(?) p.(Thr568Pro) g.117253636A>C - CEP164(NM_014956.4):c.1702A>C (p.T568P) - CEP164_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1783A>G likely benign r.(?) p.(Met595Val) g.117257977A>G - CEP164(NM_014956.4):c.1783A>G (p.M595V) - CEP164_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1934+3C>T benign r.spl? p.? g.117258131C>T - CEP164(NM_014956.4):c.1934+3C>T - CEP164_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1934+8C>T benign r.(=) p.(=) g.117258136C>T - CEP164(NM_014956.4):c.1934+8C>T - CEP164_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1935-5C>G benign r.spl? p.? g.117261488C>G - CEP164(NM_014956.4):c.1935-5C>G - CEP164_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.1975G>A likely benign r.(?) p.(Glu659Lys) g.117261533G>A - CEP164(NM_014956.4):c.1975G>A (p.E659K) - CEP164_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2206G>A likely benign r.(?) p.(Glu736Lys) g.117261854G>A - CEP164(NM_014956.4):c.2206G>A (p.E736K) - CEP164_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.2209C>T likely pathogenic r.(?) p.(Gln737*) g.117261857C>T - CEP164(NM_014956.4):c.2209C>T (p.Q737*) - CEP164_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2284-75A>G benign r.(=) p.(=) g.117262867A>G - CEP164(NM_014956.4):c.2284-75A>G - CEP164_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2326C>T VUS r.(?) p.(Arg776Trp) g.117262984C>T - CEP164(NM_014956.4):c.2326C>T (p.R776W) - CEP164_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2583G>A likely benign r.(?) p.(=) g.117263809G>A - CEP164(NM_014956.4):c.2583G>A (p.V861=) - CEP164_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2744G>A VUS r.(?) p.(Arg915His) g.117265193G>A - CEP164(NM_014956.4):c.2744G>A (p.R915H) - CEP164_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.2772C>G likely benign, benign r.(?) p.(=) g.117265647C>G - CEP164(NM_014956.4):c.2772C>G (p.L924=) - CEP164_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.2844+8A>G benign r.(=) p.(=) g.117265727A>G - CEP164(NM_014956.4):c.2844+8A>G - CEP164_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2930A>T VUS r.(?) p.(His977Leu) g.117266279A>T - CEP164(NM_014956.4):c.2930A>T (p.H977L) - CEP164_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2963C>G benign r.(?) p.(Thr988Ser) g.117266312C>G - CEP164(NM_014956.4):c.2963C>G (p.T988S) - CEP164_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.3001C>G VUS r.(?) p.(Leu1001Val) g.117266350C>G - CEP164(NM_014956.4):c.3001C>G (p.L1001V) - CEP164_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.3019C>T VUS r.(?) p.(Arg1007Cys) g.117266368C>T - CEP164(NM_014956.4):c.3019C>T (p.R1007C) - CEP164_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3147G>A likely benign r.(?) p.(=) g.117266827G>A - CEP164(NM_014956.4):c.3147G>A (p.E1049=) - CEP164_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3188T>C VUS r.(?) p.(Ile1063Thr) g.117266868T>C - CEP164(NM_014956.4):c.3188T>C (p.I1063T) - CEP164_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3216+20_3216+33del benign r.(=) p.(=) g.117266916_117266929del - CEP164(NM_014956.4):c.3216+20_3216+33delCTGGGGGCTGGGGC - CEP164_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3279-12C>T benign r.(=) p.(=) g.117267795C>T - CEP164(NM_014956.4):c.3279-12C>T - CEP164_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3356A>G benign r.(?) p.(Gln1119Arg) g.117267884A>G - CEP164(NM_014956.4):c.3356A>G (p.Q1119R) - CEP164_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3484C>A likely benign r.(?) p.(Arg1162Ser) g.117268012C>A - CEP164(NM_014956.4):c.3484C>A (p.R1162S) - CEP164_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3484C>T VUS r.(?) p.(Arg1162Cys) g.117268012C>T - CEP164(NM_014956.4):c.3484C>T (p.R1162C) - CEP164_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3501+7A>G likely benign r.(=) p.(=) g.117268036A>G - CEP164(NM_014956.4):c.3501+7A>G - CEP164_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3716C>T benign r.(?) p.(Pro1239Leu) g.117279712C>T - CEP164(NM_014956.4):c.3716C>T (p.P1239L) - CEP164_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3748+11G>A likely benign r.(=) p.(=) g.117279755G>A - CEP164(NM_014956.4):c.3748+11G>A - CEP164_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3932C>G benign r.(?) p.(Thr1311Ser) g.117280517C>G - CEP164(NM_014956.4):c.3932C>G (p.T1311S) - CEP164_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3940T>A likely benign r.(?) p.(Tyr1314Asn) g.117280525T>A - CEP164(NM_001271933.1):c.3925T>A (p.(Tyr1309Asn)) - CEP164_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.3940T>C likely benign r.(?) p.(Tyr1314His) g.117280525T>C - CEP164(NM_014956.4):c.3940T>C (p.Y1314H) - CEP164_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.3941A>C likely benign r.(?) p.(Tyr1314Ser) g.117280526A>C - CEP164(NM_014956.4):c.3941A>C (p.Y1314S) - CEP164_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3999A>G likely benign r.(?) p.(=) g.117280584A>G - CEP164(NM_014956.4):c.3999A>G (p.Q1333=) - CEP164_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4096+15G>A likely benign r.(=) p.(=) g.117280696G>A - CEP164(NM_014956.4):c.4096+15G>A - CEP164_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.4119C>T benign r.(?) p.(=) g.117281566C>T - CEP164(NM_014956.4):c.4119C>T (p.N1373=) - CEP164_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.4212G>A benign r.(?) p.(=) g.117282559G>A - CEP164(NM_014956.4):c.4212G>A (p.A1404=) - CEP164_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4228C>T VUS r.(?) p.(Gln1410*) g.117282575C>T - CEP164(NM_014956.4):c.4228C>T (p.Q1410*) - CEP164_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.4265G>A likely benign r.(?) p.(Arg1422His) g.117282612G>A - CEP164(NM_014956.4):c.4265G>A (p.R1422H) - CEP164_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 2 - c.4299G>T benign r.(?) p.(=) g.117282800G>T - CEP164(NM_014956.4):c.4299G>T (p.S1433=) - CEP164_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.4330C>G VUS r.(?) p.(Leu1444Val) g.117282831C>G - CEP164(NM_014956.4):c.4330C>G (p.L1444V) - CEP164_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4355A>G likely benign r.(?) p.(His1452Arg) g.117282856A>G - CEP164(NM_014956.4):c.4355A>G (p.H1452R) - CEP164_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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