Full data view for gene CERKL


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the transcript reference sequence.

454 entries on 5 pages. Showing entries 1 - 100.
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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.-71G>T r.(?) p.(=) Unknown - VUS g.182521804C>A g.181657077C>A - - CERKL_000002 - PubMed: Pfeffer 2012 - - Germline no - - - - DNA SEQ, SEQ-NG - - MFM9 - PubMed: Chinnery 2001, PubMed: Pfeffer 2012 6-generation family, 24 affecteds (15F, 9M) - no United Kingdom (Great Britain) - - - - - 24 Claire Chauveau
+?/. _1_2i c.(?_-1)_(481+1_482-1){0} r.0? p.0? Unknown - likely pathogenic g.(182438612_182468563)_(182521734_?)del g.(181573885_181603836)_(181657007)del del ex1-2 - CERKL_000106 - PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15005668 PubMed: Ellingford 2017, PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. _1_1i c.-101_(238+1_239-1){0} r.0? p.0? Unknown - likely pathogenic g.(182468807_182521495)_(182521738_?)del - chr2:182521491–182521738 - CERKL_000107 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14017566 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - whole-exon deletion - SNRNP200_000007 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat112 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - NM_201548.4:c.1561_1564dup4 (Y504Sfs*19) - SNRNP200_000007 - PubMed: Xu 2014 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP252 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - NM_201548.4:c.1031G>A (R344H) - SNRNP200_000007 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease QT770 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - 1404delA - SNRNP200_000007 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease F39-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? - NM_201548.4:c.812T>C - SNRNP200_000007 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 10 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Parent #1 - likely pathogenic g.? - NM_201548.4:c.598A>T - SNRNP200_000007 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 11 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? - NM_201548.4:c.1462G>A - SNRNP200_000007 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 12 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. - c.? r.(?) p.(?) Parent #2 - VUS g.? - NM_201548.4:c.769C>T - SNRNP200_000007 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 11 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. - c.? r.(?) p.(?) Parent #1 - VUS g.? - NM_201548.4:c.769C>T - SNRNP200_000007 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 22 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
?/. - c.? r.(?) p.(?) Unknown - VUS g.? - NM_201548.4:c.1204G>A - SNRNP200_000007 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 25 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. - c.? r.(?) p.(?) Unknown - VUS g.? - NM_201548.4:c.1463A>G - SNRNP200_000007 - PubMed: Wang 2014 - rs35955809 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 49 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
?/. - c.? r.spl? p.(?) Unknown - VUS g.? - NM_201548.4:c.820+9G>A - SNRNP200_000007 - PubMed: Wang 2014 - rs189638090 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 63 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
+/. 12 c.? r.(?) p.? Both (homozygous) - pathogenic g.182409466delT - c.1404delA - SNRNP200_000007 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 1 LOVD
?/. - c.? r.(?) p.(R257*) Unknown - VUS g.? - p.R257X/p.C362X - SNRNP200_000007 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 Previously described in Aleman et al., 2009 M - United States - - - - - 1 LOVD
?/. - c.? r.(?) p.(C362*) Unknown - VUS g.? - p.R257X/p.C362X - SNRNP200_000007 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 Previously described in Aleman et al., 2009 M - United States - - - - - 1 LOVD
?/. - c.? r.(?) p.(R257*) Both (homozygous) - VUS g.? - p.R257X/p.R257X - SNRNP200_000007 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 Previously described in Aleman et al., 2009 F - United States - - - - - 1 LOVD
?/. - c.? r.(?) p.(R257*) Both (homozygous) - VUS g.? - p.R257X/p.R257X - SNRNP200_000007 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 Previously described in Aleman et al., 2009 F - United States - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Unknown - likely pathogenic g.182379157_182765581del - chr2:g.182379157_182765581del - SNRNP200_000007 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000249 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.1A>G r.(?) p.? Unknown - likely pathogenic g.182521733T>C - - - CERKL_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>G r.(?) p.0? Unknown ACMG pathogenic g.182521732A>C - - - CERKL_000063 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2T>G r.(?) p.(Met1?) Unknown ACMG pathogenic g.182521732A>C g.181657005A>C - - CERKL_000063 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072169 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.17G>T r.(?) p.(Arg6Leu) Unknown - VUS g.182521717C>A g.181656990C>A CERKL(NM_001030311.2):c.17G>T (p.R6L) - CERKL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.27G>A r.(?) p.(Arg9=) Unknown - benign g.182521707C>T g.181656980C>T CERKL(NM_001030311.2):c.27G>A (p.R9=), CERKL(NM_001030311.3):c.27G>A (p.R9=) - CERKL_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27G>A r.(?) p.(Arg9=) Unknown - likely benign g.182521707C>T - CERKL(NM_001030311.2):c.27G>A (p.R9=), CERKL(NM_001030311.3):c.27G>A (p.R9=) - CERKL_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46G>C r.(?) p.(Gly16Arg) Unknown - likely benign g.182521688C>G g.181656961C>G CERKL(NM_001030311.2):c.46G>C (p.G16R) - CERKL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.66C>G r.(?) p.(Pro22=) Unknown - benign g.182521668G>C g.181656941G>C CERKL(NM_001030311.2):c.66C>G (p.P22=), CERKL(NM_001030311.3):c.66C>G (p.P22=) - CERKL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66C>G r.(?) p.(Pro22=) Unknown - likely benign g.182521668G>C g.181656941G>C CERKL(NM_001030311.2):c.66C>G (p.P22=), CERKL(NM_001030311.3):c.66C>G (p.P22=) - CERKL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102G>T r.(?) p.(Thr34=) Unknown - benign g.182521632C>A g.181656905C>A CERKL(NM_001030311.2):c.102G>T (p.T34=), CERKL(NM_001030311.3):c.102G>T (p.T34=) - CERKL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102G>T r.(?) p.(Thr34=) Unknown - likely benign g.182521632C>A - CERKL(NM_001030311.2):c.102G>T (p.T34=), CERKL(NM_001030311.3):c.102G>T (p.T34=) - CERKL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119_121del r.(?) p.(Glu40del) Unknown - VUS g.182521615_182521617del - CERKL(NM_001030311.2):c.119_121delAGG (p.E40del) - CERKL_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.154T>C r.(?) p.(Phe52Leu) Parent #1 ACMG VUS g.182521580A>G g.181656853A>G c.[154T>C;158A>C] - CERKL_000139 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067194 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
-/. - c.156C>T r.(?) p.(Phe52=) Unknown - benign g.182521578G>A g.181656851G>A CERKL(NM_001030311.3):c.156C>T (p.F52=) - CERKL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Phe52=) Unknown - benign g.182521578G>A - CERKL(NM_001030311.3):c.156C>T (p.F52=) - CERKL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.156_157insT r.(?) p.(Glu53*) Unknown ACMG pathogenic g.182521577_182521578insA - - - CERKL_000087 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0026 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.157G>A r.(?) p.(Glu53Lys) Unknown - VUS g.182521577C>T g.181656850C>T CERKL(NM_001030311.2):c.157G>A (p.E53K), CERKL(NM_001030311.3):c.157G>A (p.E53K) - CERKL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157G>A r.(?) p.(Glu53Lys) Unknown - likely benign g.182521577C>T g.181656850C>T CERKL(NM_001030311.2):c.157G>A (p.E53K), CERKL(NM_001030311.3):c.157G>A (p.E53K) - CERKL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.158A>C r.(?) p.(Glu53Ala) Parent #1 ACMG VUS g.182521576T>G g.181656849T>G c.[154T>C;158A>C] - CERKL_000138 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067194 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 1 c.182T>A r.(?) p.(Val61Glu) Unknown - likely pathogenic g.182521552A>T g.181656825A>T CERKL Ex.1 c.182T>A p.(Val61Glu), Ex.6 c.847C>T p.(Arg283*) - CERKL_000104 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2225 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 1 c.182T>A r.(?) p.(Val61Glu) Unknown - likely pathogenic g.182521552A>T g.181656825A>T CERKL Ex.1 c.182T>A p.(Val61Glu), Ex.1 c.182T>A p.(Val61Glu), CRB1: Ex.7 c.2291G>A p.(Arg764His) - CERKL_000104 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2730 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.191G>A r.(?) p.(Ser64Asn) Unknown - VUS g.182521543C>T g.181656816C>T CERKL(NM_001030311.2):c.191G>A (p.S64N) - CERKL_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.193G>T r.(?) p.(Glu65*) Parent #1 - pathogenic (recessive) g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat5 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.193G>T r.(?) p.(Glu65*) Parent #1 - pathogenic (recessive) g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat10 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.193G>T r.(?) p.(Glu65*) Parent #2 - pathogenic (recessive) g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat1 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.193G>T r.(?) p.(Glu65*) Parent #2 - pathogenic (recessive) g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat4 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.193G>T r.(?) p.(Glu65*) Parent #2 - pathogenic (recessive) g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat5 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.193G>T r.(?) p.(Glu65*) Parent #2 - pathogenic (recessive) g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat10 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
?/. - c.193G>T r.(?) p.(Glu65*) Both (homozygous) - VUS g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13008350 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
?/. - c.193G>T r.(?) p.(Glu65*) Unknown - VUS g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13011267 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
?/. - c.193G>T r.(?) p.(Glu65*) Unknown - VUS g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12013544 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
?/. - c.193G>T r.(?) p.(Glu65*) Unknown - VUS g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13000499 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
?/. - c.193G>T r.(?) p.(Glu65*) Unknown - VUS g.182521541C>A g.181656814C>A - - CERKL_000073 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13006449 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 1 c.197_200dup r.(?) p.(Leu68Serfs*15) Parent #1 - pathogenic (recessive) g.182521542_182521545dup g.181656815_181656818dup - - CERKL_000070 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat112 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 1 c.197_200dup r.(?) p.(Leu68Serfs*15) Unknown ACMG pathogenic g.182521542_182521545dup g.181656815_181656818dup c.197_200dupGAGC, p.Leu68Serfs*15 - CERKL_000070 Heterozygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease 45 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+?/. 1 c.197_200dup r.(?) p.(Leu68Serfs*15) Unknown - likely pathogenic g.182521542_182521545dup g.181656815_181656818dup CERKL c.197_200dup whole-exon deletion, p.Leu68Serfs*15 putative loss of function - CERKL_000070 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 113 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
-?/. - c.207G>A r.(?) p.(=) Unknown - likely benign g.182521527C>T - CERKL(NM_001030311.3):c.207G>A (p.R69=) - CERKL_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.237_238+13del r.spl? p.? Unknown - pathogenic g.182521490_182521504del - - - CERKL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.237_238+13del r.? p.(Gly80*) Both (homozygous) - pathogenic g.182521483_182521497del - c.237_238+13del - CERKL_000059 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1i c.238+1G>A r.spl p.? Both (homozygous) - pathogenic g.182521495C>T g.181656768C>T - - CERKL_000027 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Yemenite;Jewish - - - - 1 Dror Sharon
+/. 1i c.238+1G>A r.spl p.? Both (homozygous) - pathogenic g.182521495C>T g.181656768C>T - - CERKL_000027 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - F yes Israel Yemenite;Jewish - - - - 2 Dror Sharon
+/. - c.238+1G>A r.spl p.? Unknown ACMG pathogenic g.182521495C>T - - - CERKL_000027 - PubMed: Sharon 2019 - - Germline - 4/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 4 IRD families - - Israel - - - - - 4 Global Variome, with Curator vacancy
+/. - c.238+1G>A r.spl p.? Unknown ACMG pathogenic g.182521495C>T - - - CERKL_000027 - PubMed: Sharon 2019 - - Germline - 19/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 19 IRD families - - Israel - - - - - 19 Global Variome, with Curator vacancy
+?/. - c.238+1G>A r.spl p.? Unknown - likely pathogenic g.182521495C>T g.181656768C>T - - CERKL_000027 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG0401 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB32_II:4 PubMed: Auslender 2007 Family TB32 F - Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB32_II:6 PubMed: Auslender 2007 Family TB32 M - Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB32_II:7 PubMed: Auslender 2007 Family TB32 M - Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB32_II:9 PubMed: Auslender 2007 Family TB32 M - Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB32_II:11 PubMed: Auslender 2007 Family TB32 F - Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB56_II:2 PubMed: Auslender 2007 Family TB56 M yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0050_II:1 PubMed: Auslender 2007 Family MOL0050 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0050_II:3 PubMed: Auslender 2007 Family MOL0050 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB47_II:2 PubMed: Auslender 2007 Family TB47 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB47_II:3 PubMed: Auslender 2007 Family TB47 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB47_III:1 PubMed: Auslender 2007 Family TB47 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB47_III:4 PubMed: Auslender 2007 Family TB47 M yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB47_III:5 PubMed: Auslender 2007 Family TB47 M yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease TB47_III:6 PubMed: Auslender 2007 Family TB47 M yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_II:2 PubMed: Auslender 2007 Family MOL0530 M yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_II:3 PubMed: Auslender 2007 Family MOL0530 M yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_II:5 PubMed: Auslender 2007 Family MOL0530 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_II:6 PubMed: Auslender 2007 Family MOL0530 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_II:7 PubMed: Auslender 2007 Family MOL0530 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_II:8 PubMed: Auslender 2007 Family MOL0530 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_II:9 PubMed: Auslender 2007 Family MOL0530 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_III:2 PubMed: Auslender 2007 Family MOL0530 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0530_III:3 PubMed: Auslender 2007 Family MOL0530 F yes Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0312_II:3 PubMed: Auslender 2007 Family MOL0530 M - Yemen Jewish - - - - 1 LOVD
+?/. 11i c.238+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.182521495C>T g.181656768C>T CERKL c.238+1G>A - CERKL_000027 founder mutation; homozygous PubMed: Auslender 2007 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0009_II:1 PubMed: Auslender 2007 Family MOL0530 M yes Yemen Jewish - - - - 1 LOVD
+/. 1i c.238+1G>A r.spl p.? Parent #1 ACMG pathogenic g.182521495C>T g.181656768C>T - - CERKL_000027 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073066 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 1i c.238+2T>C r.spl? p.? Unknown - likely pathogenic g.182521494A>G - c.238+2T>C - CERKL_000108 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14017566 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.238+6T>C r.(=) p.(=) Unknown - likely benign g.182521490A>G - CERKL(NM_001030311.2):c.238+6T>C - CERKL_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.238+16C>G r.(=) p.(=) Unknown - benign g.182521480G>C g.181656753G>C CERKL(NM_001030311.3):c.238+16C>G - CERKL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239-14T>A r.(=) p.(=) Unknown - likely benign g.182468820A>T - CERKL(NM_001030311.3):c.239-14T>A - CERKL_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.239-12T>A r.(=) p.(=) Unknown - benign g.182468818A>T g.181604091A>T CERKL(NM_001030311.2):c.239-12T>A, CERKL(NM_001030311.3):c.239-12T>A - CERKL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.239-12T>A r.(=) p.(=) Unknown - benign g.182468818A>T g.181604091A>T CERKL(NM_001030311.2):c.239-12T>A, CERKL(NM_001030311.3):c.239-12T>A - CERKL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.239-12T>A r.(=) p.(=) Unknown - benign g.182468818A>T - CERKL(NM_001030311.2):c.239-12T>A, CERKL(NM_001030311.3):c.239-12T>A - CERKL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.239-2A>G r.spl p.(?) Unknown - likely pathogenic g.182468808T>C g.181604081T>C CERKL c.239-2A>G splice site, c.1628_1632dup, p.Ile545Aspfs*13 - CERKL_000116 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 114 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 1i c.239-2A>G r.spl? p.? Unknown - likely pathogenic (recessive) g.182468808T>C - c.239-2A>G - CERKL_000116 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
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