Full data view for gene CEP250

Information The variants shown are described using the NM_007186.3 transcript reference sequence.

106 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.243+11C>T r.(=) p.(=) Unknown - likely benign g.34051467C>T - CEP250(NM_007186.5):c.243+11C>T - CEP250_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247C>T r.(?) p.(Pro83Ser) Unknown - VUS g.34053571C>T g.35465746C>T CEP250(NM_007186.5):c.247C>T (p.P83S) - CEP250_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.327G>T r.(?) p.(Arg109Ser) Unknown - VUS g.34053864G>T - CEP250(NM_007186.5):c.327G>T (p.R109S) - CEP250_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.353C>T r.(?) p.(Thr118Ile) Unknown - likely benign g.34053890C>T - CEP250(NM_007186.5):c.353C>T (p.T118I), CEP250(NM_007186.6):c.353C>T (p.(Thr118Ile)) - CEP250_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.353C>T r.(?) p.(Thr118Ile) Unknown - likely benign g.34053890C>T - CEP250(NM_007186.5):c.353C>T (p.T118I), CEP250(NM_007186.6):c.353C>T (p.(Thr118Ile)) - CEP250_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.361C>T r.(?) p.(Arg121*) Paternal (confirmed) - pathogenic (recessive) g.34053898C>T - - - CEP250_000050 - PubMed: Kubota 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? family PubMed: Kubota 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Japan - - - - - 2 Johan den Dunnen
-?/. - c.384C>T r.(?) p.(Asp128=) Unknown - likely benign g.34053921C>T g.35466096C>T CEP250(NM_007186.5):c.384C>T (p.D128=) - CEP250_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.493-1G>A r.spl? p.? Unknown - pathogenic g.34054790G>A g.35466965G>A CEP250(NM_007186.5):c.493-1G>A - CEP250_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493-1G>A r.spl p.? Unknown ACMG VUS g.34054790G>A g.35466965G>A CEP250 c.493-1G>A, p.? - CEP250_000026 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 33_39 PubMed: Zhu 2022 family 33, individual 39 F - - - - - - - 1 LOVD
?/. - c.527G>A r.(?) p.(Arg176His) Unknown - VUS g.34054825G>A - CEP250(NM_007186.5):c.527G>A (p.R176H) - CEP250_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.545G>A r.(?) p.(Arg182Gln) Unknown - VUS g.34054843G>A - CEP250(NM_007186.5):c.545G>A (p.R182Q) - CEP250_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.562C>T r.(?) p.(Arg188*) Both (homozygous) - pathogenic g.34054860C>T g.35467035C>T - - CEP250_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - - - - - - - - - - - 1 Xiufeng Huang
+/. - c.562C>T r.(?) p.(Arg188*) Maternal (confirmed) - pathogenic (recessive) g.34054860C>T - - - CEP250_000025 - PubMed: Kubota 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? family PubMed: Kubota 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Japan - - - - - 2 Johan den Dunnen
+/. - c.562C>T r.(?) p.(Arg188*) Both (homozygous) - pathogenic (recessive) g.34054860C>T - - - CEP250_000025 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Huang 2018 - - yes China Han Chinese - - - - 1 Johan den Dunnen
-?/. - c.777A>G r.(?) p.(Glu259=) Unknown - likely benign g.34055306A>G - CEP250(NM_007186.5):c.777A>G (p.E259=) - CEP250_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.777A>G r.(?) p.(Glu259=) Unknown - likely benign g.34055306A>G - CEP250(NM_007186.5):c.777A>G (p.E259=) - CEP250_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798G>A r.(?) p.(Glu266=) Unknown - likely benign g.34055327G>A g.35467502G>A CEP250(NM_007186.5):c.798G>A (p.E266=) - CEP250_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851G>A r.(?) p.(Arg284Gln) Unknown - VUS g.34055380G>A g.35467555G>A CEP250(NM_007186.5):c.851G>A (p.R284Q) - CEP250_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.859G>A r.(?) p.(Glu287Lys) Unknown - likely benign g.34057722G>A g.35469897G>A CEP250(NM_007186.5):c.859G>A (p.E287K) - CEP250_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936A>G r.(?) p.(Thr312=) Unknown - benign g.34057799A>G g.35469974A>G CEP250(NM_007186.5):c.936A>G (p.T312=) - CEP250_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936A>G r.(?) p.(Thr312=) Unknown - likely benign g.34057799A>G g.35469974A>G CEP250(NM_007186.5):c.936A>G (p.T312=) - CEP250_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001C>T r.(?) p.(Ala334Val) Unknown - likely benign g.34059927C>T g.35472102C>T CEP250(NM_007186.5):c.1001C>T (p.A334V) - CEP250_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1050+7G>A r.(=) p.(=) Unknown - likely benign g.34059983G>A - CEP250(NM_007186.5):c.1050+7G>A - CEP250_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1113G>A r.(?) p.(Leu371=) Unknown - VUS g.34060560G>A g.35472735G>A CEP250(NM_007186.5):c.1113G>A (p.L371=) - CEP250_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1164del r.(?) p.(Thr389LeufsTer7) Unknown - likely pathogenic g.34060611del g.35472786del CEP250(NM_007186.5):c.1164delT (p.T389Lfs*7) - CEP250_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1174C>T r.(?) p.(Arg392Cys) Unknown - VUS g.34060621C>T g.35472796C>T CEP250(NM_007186.5):c.1174C>T (p.R392C) - CEP250_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1200G>A r.(?) p.(Gln400=) Unknown - likely benign g.34060647G>A - CEP250(NM_007186.5):c.1200G>A (p.Q400=) - CEP250_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1210-14C>T r.(=) p.(=) Unknown - likely benign g.34061185C>T g.35473360C>T CEP250(NM_007186.5):c.1210-14C>T - CEP250_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1213C>T r.(?) p.(Leu405=) Unknown - likely benign g.34061202C>T - CEP250(NM_007186.5):c.1213C>T (p.L405=) - CEP250_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1256T>G r.(?) p.(Leu419Trp) Unknown - VUS g.34061245T>G g.35473420T>G CEP250(NM_007186.5):c.1256T>G (p.L419W) - CEP250_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1437G>A r.(?) p.(Leu479=) Unknown - likely benign g.34061743G>A - CEP250(NM_007186.5):c.1437G>A (p.L479=) - CEP250_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1550C>T r.(?) p.(Ala517Val) Unknown - VUS g.34061856C>T - CEP250(NM_007186.5):c.1550C>T (p.A517V) - CEP250_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1679G>A r.(?) p.(Arg560Lys) Unknown - benign g.34063434G>A g.35475609G>A CEP250(NM_007186.5):c.1679G>A (p.R560K) - CEP250_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.1826C>T r.(?) p.(Ala609Val) Both (homozygous) ACMG likely pathogenic g.34064383C>T g.35476558C>T - - CEP250_000002 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease A3.4 PubMed: de Castro-Miró 2016 - F ? Spain - - - - - 1 Marta de Castro-Miró
-?/. - c.1827G>A r.(?) p.(Ala609=) Unknown - likely benign g.34064384G>A - CEP250(NM_007186.5):c.1827G>A (p.A609=) - CEP250_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2006A>G r.(?) p.(Gln669Arg) Unknown - likely benign g.34065838A>G - CEP250(NM_007186.5):c.2006A>G (p.Q669R) - CEP250_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2120C>T r.(?) p.(Thr707Met) Unknown - VUS g.34067081C>T g.35479256C>T CEP250(NM_007186.5):c.2120C>T (p.T707M) - CEP250_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2155C>T r.(?) p.(Arg719*) Both (homozygous) - pathogenic g.34067116C>T g.35479291C>T - - CEP250_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.2216C>T r.(?) p.(Ala739Val) Unknown - VUS g.34067177C>T - CEP250(NM_007186.5):c.2216C>T (p.A739V) - CEP250_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2512del r.(?) p.(Gln838LysfsTer18) Parent #1 - pathogenic (recessive) g.34067896del g.35480071del c.2512delC - CEP250_000081 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP250-1 PubMed: Igelman 2021 - M no - - - - - - 1 Johan den Dunnen
-?/. - c.2526T>G r.(?) p.(=) Unknown - likely benign g.34067910T>G - CEP250(NM_007186.5):c.2526T>G (p.T842=) - CEP250_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2686A>G r.(?) p.(Thr896Ala) Unknown - likely benign g.34078562A>G g.35490736A>G CEP250(NM_007186.5):c.2686A>G (p.T896A) - CEP250_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2740_2741del r.(?) p.(Ser914CysfsTer76) Unknown - VUS g.34078616_34078617del g.35490790_35490791del - - CEP250_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2775G>T r.(?) p.(Lys925Asn) Unknown - VUS g.34079058G>T - CEP250(NM_007186.5):c.2775G>T (p.K925N) - CEP250_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2829T>C r.(?) p.(Asp943=) Unknown - likely benign g.34079112T>C - CEP250(NM_007186.5):c.2829T>C (p.D943=) - CEP250_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2920C>T r.(?) p.(Gln974Ter) Unknown - VUS g.34081286C>T g.35493459C>T - - CEP250_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3237A>G r.(?) p.(Gln1079=) Unknown - likely benign g.34084475A>G g.35496646A>G CEP250(NM_007186.5):c.3237A>G (p.Q1079=) - CEP250_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3273_3289del r.(?) p.(Ala1092ArgfsTer19) Unknown ACMG likely pathogenic g.34084511_34084527del g.35496682_35496698del - - CEP250_000088 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066689 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.3306+8C>G r.(=) p.(=) Unknown - likely benign g.34084552C>G - CEP250(NM_007186.5):c.3306+8C>G - CEP250_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3307-10T>C r.(=) p.(=) Unknown - likely benign g.34085538T>C - CEP250(NM_007186.5):c.3307-10T>C - CEP250_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3337A>T r.(?) p.(Lys1113*) Parent #2 - likely pathogenic (recessive) g.34085578A>T g.35497749A>T - - CEP250_000051 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1973 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
-/. - c.3381G>A r.(?) p.(Glu1127=) Unknown - benign g.34085622G>A g.35497793G>A CEP250(NM_007186.5):c.3381G>A (p.E1127=) - CEP250_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3402G>A r.(?) p.(Thr1134=) Unknown - likely benign g.34085643G>A - CEP250(NM_007186.5):c.3402G>A (p.T1134=) - CEP250_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 26 c.3463C>T r.(?) p.(Arg1155*) Both (homozygous) - pathogenic g.34085704C>T g.35497875C>T - - CEP250_000024 - Sharon, submitted - - Germline - - - - - DNA SEQ - - USH1 - Sharon, submitted - F yes Israel Iran;Jewish - - - - 6 Dror Sharon
+/. - c.3463C>T r.(?) p.(Arg1155*) Unknown ACMG pathogenic g.34085704C>T - - - CEP250_000024 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.3463C>T r.(?) p.(Arg1155*) Both (homozygous) - pathogenic (recessive) g.34085704C>T - - - CEP250_000024 variant linked to hearing loss and RP PubMed: Khateb 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? MOL0028PatII3/4/7 PubMed: Khateb 2014 3 affected sibs (2F, M) - - Iran Jewish - - - - 3 Johan den Dunnen
+/. - c.3463C>T r.(?) p.(Arg1155*) Both (homozygous) - pathogenic (recessive) g.34085704C>T - - - CEP250_000024 variant linked to hearing loss and RP PubMed: Khateb 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? MOL0028PatII1/5/6 PubMed: Khateb 2014 3 affected sibs (F, 2M) F;M yes Iran Jewish - - - - 3 Johan den Dunnen
+/. - c.3463C>T r.(?) p.(Arg1155*) Parent #1 - pathogenic (recessive) g.34085704C>T - - - CEP250_000024 - PubMed: Khateb 2014 - - Germline - - - - - DNA SEQ - - ? MOL0028PatII2 PubMed: Khateb 2014 1 affected M yes Iran Jewish - - - - 1 Johan den Dunnen
+/. - c.3463C>T r.(?) p.(Arg1155*) Parent #1 - pathogenic (recessive) g.34085704C>T - - - CEP250_000024 - PubMed: Khateb 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? MOL0028PatI PubMed: Khateb 2014 father M yes Iran Jewish - - - - 1 Johan den Dunnen
-/. - c.3629C>T r.(?) p.(Ala1210Val) Unknown - benign g.34085870C>T g.35498041C>T CEP250(NM_007186.5):c.3629C>T (p.A1210V) - CEP250_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3629C>T r.(?) p.(Ala1210Val) Unknown - likely benign g.34085870C>T - CEP250(NM_007186.5):c.3629C>T (p.A1210V) - CEP250_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3899-10_3899-9dup r.(=) p.(=) Unknown - benign g.34089662_34089663dup - CEP250(NM_007186.5):c.3902_3903insCT (p.K1301Nfs*12) - CEP250_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3906C>T r.(?) p.(Ser1302=) Unknown - benign g.34089679C>T - CEP250(NM_007186.5):c.3906C>T (p.S1302=) - CEP250_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3967G>A r.(?) p.(Ala1323Thr) Unknown - benign g.34089740G>A g.35501913G>A CEP250(NM_007186.5):c.3967G>A (p.A1323T) - CEP250_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3967G>A r.(?) p.(Ala1323Thr) Unknown - likely benign g.34089740G>A g.35501913G>A CEP250(NM_007186.5):c.3967G>A (p.A1323T) - CEP250_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4006C>T r.(?) p.(Arg1336*) Parent #1 - likely pathogenic (recessive) g.34089779C>T g.35501952C>T - - CEP250_000052 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1973 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4006C>T r.(?) p.(Arg1336Ter) Both (homozygous) ACMG pathogenic (recessive) g.34089779C>T g.35501952C>T - - CEP250_000052 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHI-86 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.4039C>T r.(?) p.(Gln1347Ter) Unknown - pathogenic g.34090236C>T - CEP250(NM_007186.5):c.4039C>T (p.Q1347*) - CEP250_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4365G>A r.(?) p.(Lys1455=) Unknown - benign g.34090562G>A g.35502734G>A CEP250(NM_007186.5):c.4365G>A (p.K1455=) - CEP250_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4388_4389del r.(?) p.(Leu1463ArgfsTer23) Unknown - pathogenic g.34090585_34090586del g.35502757_35502758del - - CEP250_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4567G>A r.(?) p.(Val1523Ile) Unknown - VUS g.34090764G>A g.35502936G>A CEP250(NM_007186.5):c.4567G>A (p.V1523I) - CEP250_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4861C>A r.(?) p.(Leu1621Met) Unknown - likely benign g.34091058C>A g.35503230C>A CEP250(NM_007186.5):c.4861C>A (p.L1621M) - CEP250_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4866A>G r.(?) p.(=) Unknown - likely benign g.34091063A>G - CEP250(NM_007186.5):c.4866A>G (p.A1622=) - CEP250_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4931G>A r.(?) p.(Arg1644Lys) Unknown - likely benign g.34091128G>A g.35503300G>A CEP250(NM_007186.5):c.4931G>A (p.R1644K) - CEP250_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4960G>A r.(?) p.(Glu1654Lys) Unknown - VUS g.34091157G>A - CEP250(NM_007186.5):c.4960G>A (p.E1654K) - CEP250_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5570G>A r.(?) p.(Arg1857His) Unknown - benign g.34091767G>A g.35503939G>A CEP250(NM_007186.5):c.5570G>A (p.R1857H) - CEP250_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5579_5580dup r.(?) p.(Leu1861SerfsTer33) Parent #2 - pathogenic (recessive) g.34091776_34091777dup g.35503946_35503949dup c.5579_5580dupAG - CEP250_000082 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP250-1 PubMed: Igelman 2021 - M no - - - - - - 1 Johan den Dunnen
?/. - c.5644G>T r.(?) p.(Val1882Phe) Unknown - VUS g.34091841G>T g.35504013G>T CEP250(NM_007186.5):c.5644G>T (p.V1882F) - CEP250_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5790G>A r.(?) p.(Gln1930=) Unknown - likely benign g.34091987G>A - CEP250(NM_007186.5):c.5790G>A (p.Q1930=) - CEP250_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5798C>T r.(?) p.(Ala1933Val) Unknown - likely benign g.34091995C>T - CEP250(NM_007186.6):c.5798C>T (p.(Ala1933Val)) - CEP250_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5850G>A r.(?) p.(Gln1950=) Unknown - likely benign g.34092047G>A - CEP250(NM_007186.5):c.5850G>A (p.Q1950=) - CEP250_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5932C>T r.(?) p.(Gln1978Ter) Unknown - VUS g.34092129C>T g.35504301C>T - - CEP250_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5959C>T r.(?) p.(Gln1987Ter) Both (homozygous) - pathogenic (recessive) g.34092156C>T g.35504328C>T - - CEP250_000083 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP250-2* PubMed: Igelman 2021 family, 2 affected (2F) F no - - - - - - 2 Johan den Dunnen
+/. - c.5959C>T r.(?) p.(Gln1987Ter) Both (homozygous) - pathogenic (recessive) g.34092156C>T g.35504328C>T - - CEP250_000083 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP250-3* PubMed: Igelman 2021 relative F no - - - - - - 1 Johan den Dunnen
?/. - c.5974C>T r.(?) p.(Arg1992Cys) Unknown - VUS g.34092171C>T g.35504343C>T CEP250(NM_007186.5):c.5974C>T (p.R1992C) - CEP250_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5974C>T r.(?) p.(Arg1992Cys) Unknown - likely benign g.34092171C>T g.35504343C>T CEP250(NM_007186.5):c.5974C>T (p.R1992C) - CEP250_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6038G>A r.(?) p.(Arg2013Gln) Unknown - VUS g.34092235G>A g.35504407G>A CEP250(NM_007186.5):c.6038G>A (p.R2013Q) - CEP250_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6118C>G r.(?) p.(Leu2040Val) Unknown - VUS g.34092315C>G g.35504487C>G CEP250(NM_007186.5):c.6118C>G (p.L2040V) - CEP250_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6150G>A r.(?) p.(Glu2050=) Unknown - likely benign g.34092347G>A - CEP250(NM_007186.5):c.6150G>A (p.E2050=) - CEP250_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6157C>T r.(?) p.(His2053Tyr) Unknown - benign g.34092354C>T g.35504526C>T CEP250(NM_007186.5):c.6157C>T (p.H2053Y) - CEP250_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6238C>G r.(?) p.(Leu2080Val) Unknown - VUS g.34092435C>G - CEP250(NM_007186.5):c.6238C>G (p.L2080V) - CEP250_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6304A>G r.(?) p.(Thr2102Ala) Unknown - likely benign g.34092501A>G g.35504673A>G CEP250(NM_007186.5):c.6304A>G (p.T2102A) - CEP250_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6358A>G r.(?) p.(Asn2120Asp) Unknown - benign g.34092555A>G g.35504727A>G CEP250(NM_007186.5):c.6358A>G (p.N2120D) - CEP250_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6424G>T r.(?) p.(Asp2142Tyr) Unknown - likely benign g.34092621G>T g.35504793G>T CEP250(NM_007186.5):c.6424G>T (p.D2142Y) - CEP250_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6451_6462del r.(?) p.(Glu2151_Arg2154del) Unknown - VUS g.34092648_34092659del g.35504820_35504831del CEP250(NM_007186.5):c.6451_6462delGAGCTGGAGCGG (p.E2151_R2154del) - CEP250_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6451_6462del r.(?) p.(Glu2151_Arg2154del) Unknown - VUS g.34092648_34092659del - CEP250(NM_007186.5):c.6451_6462delGAGCTGGAGCGG (p.E2151_R2154del) - CEP250_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6532C>T r.(?) p.(Leu2178Phe) Unknown - VUS g.34092729C>T - CEP250(NM_007186.5):c.6532C>T (p.L2178F) - CEP250_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6557G>T r.(?) p.(Ser2186Ile) Unknown - VUS g.34092754G>T - CEP250(NM_007186.5):c.6557G>T (p.S2186I) - CEP250_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6613G>A r.(?) p.(Asp2205Asn) Unknown - likely benign g.34092810G>A g.35504982G>A CEP250(NM_007186.5):c.6613G>A (p.D2205N) - CEP250_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6751-7C>T r.(=) p.(=) Unknown - likely benign g.34095857C>T - CEP250(NM_007186.5):c.6751-7C>T - CEP250_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.