Full data view for gene CEP78

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001098802.1 transcript reference sequence.

101 entries on 2 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.-276_*305{0} r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_80850991)_(80881983_?)del g.(?_78236075)_(78267067_?)del del whole gene - CEP78_000035 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-18807 PubMed: Igelman 2021 - F no - - - - - - 1 Johan den Dunnen
+/. - c.-276_*305{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_80850991)_(80881983_?)del g.(?_78236075)_(78267067_?)del del whole gene - CEP78_000035 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-4 PubMed: Igelman 2021 - F no - - - - - - 1 Johan den Dunnen
+/. - c.-276_*305{1} r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_80850991)_(80881983_?)inv g.(?_78236075)_(78267067_?)inv inversion der(9)(q21.2) - CEP78_000048 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-5 PubMed: Igelman 2021 - M - - - - - - - 1 Johan den Dunnen
+/. _1_5i c.-256_778+1129{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.[80843699_80849462del;80849463_80849760inv;80849761_80859678del] - - - CEP78_000030 - PubMed: Sanchis-Juan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS ? Pat3 PubMed: Sanchis-Juan 2018 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_5i c.-256_778+1129{0} r.0? p.0? Paternal (confirmed) - pathogenic (recessive) g.[80843699_80849462del;80849463_80849760inv;80849761_80859678del] - del ex1-5 - CEP78_000030 - - - - Germline - - - - - DNA SEQ-ON - - CRDHL - - - F - Belgium - - - - - 1 Elfride De Baere
+/. _1_16_ c.-276_*305{0} r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.80711846_80946803del g.78096930_78331887 chr9: 78096930-78331887del - CEP78_000035 delineation was obtained via whole genome LRS, coordinates are crossing chr9: 78096930-78331887 and cover 235 kb. - - - Germline - - - - - DNA SEQ-ON, SEQ-NG - - CRDHL - - - F - Denmark - - - - - 1 Elfride De Baere
-/. - c.35C>T r.(?) p.(Ala12Val) Unknown - benign g.80851301C>T g.78236385C>T CEP78(NM_001330691.2):c.35C>T (p.A12V), CEP78(NM_001349839.2):c.35C>T (p.A12V) - CEP78_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35C>T r.(?) p.(Ala12Val) Unknown - likely benign g.80851301C>T - CEP78(NM_001330691.2):c.35C>T (p.A12V), CEP78(NM_001349839.2):c.35C>T (p.A12V) - CEP78_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.61del r.(?) p.(Tyr21ThrfsTer39) Unknown - pathogenic g.80851327del g.78236411del CEP78(NM_001330691.2):c.61delT (p.Y21Tfs*39) - CEP78_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116G>C r.(?) p.(Arg39Pro) Unknown - VUS g.80851382G>C - CEP78(NM_001349839.1):c.116G>C (p.R39P) - CEP78_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.211del r.(?) p.(Val71SerfsTer18) Parent #2 - pathogenic (recessive) g.80851477del g.78236561del c.211delG - CEP78_000049 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-18807 PubMed: Igelman 2021 - F no - - - - - - 1 Johan den Dunnen
-?/. - c.253+20A>G r.(=) p.(=) Unknown - likely benign g.80851539A>G - CEP78(NM_001349839.2):c.253+20A>G - CEP78_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.254-1G>T r.spl p.? Parent #1 - pathogenic (recessive) g.80854938G>T g.78240022G>T - - CEP78_000050 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-2 PubMed: Igelman 2021 - F no - - - - - - 1 Johan den Dunnen
+?/. - c.319C>T r.spl p.(Gln107Ter) Unknown ACMG likely pathogenic g.80855004C>T g.78240088C>T - - CEP78_000060 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 073115 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.323T>G r.(?) p.(Leu108Trp) Parent #2 - pathogenic (recessive) g.80855008T>G g.78240092T>G - - CEP78_000051 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-2 PubMed: Igelman 2021 - F no - - - - - - 1 Johan den Dunnen
-?/. - c.411A>G r.(?) p.(Leu137=) Unknown - likely benign g.80855096A>G g.78240180A>G CEP78(NM_001330691.2):c.411A>G (p.L137=) - CEP78_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426+15A>G r.(=) p.(=) Unknown - likely benign g.80855126A>G - CEP78(NM_001349839.2):c.426+15A>G - CEP78_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.427-19C>T r.(=) p.(=) Unknown - likely benign g.80855189C>T - CEP78(NM_001349839.2):c.427-19C>T - CEP78_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.440C>T r.(?) p.(Ser147Leu) Unknown - VUS g.80855221C>T g.78240305C>T CEP78(NM_001098802.3):c.440C>T (p.S147L) - CEP78_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.440C>T r.(?) p.(Ser147Leu) Both (homozygous) - likely pathogenic g.80855221C>T g.78240305C>T - - CEP78_000013 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 543 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.440C>T r.(?) p.(Ser147Leu) Both (homozygous) - pathogenic (recessive) g.80855221C>T g.78240305C>T - - CEP78_000013 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-87042 PubMed: Igelman 2021 - F no - - - - - - 1 Johan den Dunnen
+/. - c.449T>C r.(?) p.(Leu150Ser) Both (homozygous) - pathogenic (recessive) g.80855230T>C g.78240314T>C - - CEP78_000023 - PubMed: Ascari 2020 - rs761661253 Germline yes - - - - DNA SEQ-NG - - CRDHL Fam2PaII2 PubMed: Ascari 2020 2-generation family, 1 affected, unaffected parents M - Belgium - - - - - 1 Elfride De Baere
+/. - c.449T>C r.(?) p.(Leu150Ser) Paternal (confirmed) - pathogenic (recessive) g.80855230T>C g.78240314T>C - - CEP78_000023 - PubMed: Ascari 2020 - rs761661253 Germline yes - - - - DNA, RNA RT-PCR, SEQ-NG - - CRDHL Fam3PatII1 PubMed: Ascari 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Germany - - - - - 2 Elfride De Baere
+/. - c.449T>C r.(?) p.(Leu150Ser) Paternal (confirmed) - pathogenic (recessive) g.80855230T>C g.78240314T>C - - CEP78_000023 - PubMed: Ascari 2020 - rs761661253 Germline yes - - - - DNA SEQ-NG - - CRDHL Fam3PatII2 PubMed: Ascari 2020 brother M - Germany - - - - - 1 Elfride De Baere
+/. - c.449T>C r.(?) p.(Leu150Ser) Both (homozygous) - pathogenic (recessive) g.80855230T>C - - - CEP78_000023 - PubMed: Ascari 2020 - - Germline yes - - - - DNA SEQ-NG - - INFM Fam1PatIII2 PubMed: Ascari 2020 4-generation family, affected brother/sister, unaffected heterozygous carrier parents; relatives M - Belgium - - - - - 2 Elfride De Baere
+/. - c.449T>C r.(?) p.(Leu150Ser) Both (homozygous) - pathogenic (recessive) g.80855230T>C - - - CEP78_000023 - PubMed: Ascari 2020 - - Germline yes - - - - DNA SEQ - - ? Fam1PatIII5 PubMed: Ascari 2020 sister F - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.449T>C r.(?) p.(Leu150Ser) Unknown - likely pathogenic g.80855230T>C - - - CEP78_000023 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.449T>C r.(?) p.(Leu150Ser) Unknown ACMG likely pathogenic (recessive) g.80855230T>C g.78240314T>C - - CEP78_000023 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 1171014 - Germline - - - - - DNA SEQ-NG - WGS ? USHII-347 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - 4 Johan den Dunnen
+?/. 3 c.449T>C r.(?) p.(Leu150Ser) Both (homozygous) ACMG likely pathogenic g.80855230T>C g.78240314T>C - - CEP78_000023 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066767 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 3 c.449T>C r.(?) p.(Leu150Ser) Both (homozygous) ACMG likely pathogenic g.80855230T>C g.78240314T>C - - CEP78_000023 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066827 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.449T>C r.spl p.(Leu150Ser) Unknown ACMG likely pathogenic g.80855230T>C g.78240314T>C - - CEP78_000023 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 066837 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.473G>T r.(?) p.(Cys158Phe) Both (homozygous) ACMG VUS g.80855254G>T NM_001330691.3:c.473G>T - - CEP78_000055 - Villafuerte-de la Cruz RA, et al., 2023. Submitted - - Germline yes - - - - DNA SEQ-NG-I Buccal swab - RPar 2694961 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - None 1 Rocio Villafuerte-de la Cruz
+?/. 3i c.499+1G>T r.427_499del p.Gly143Leufs*6 Both (homozygous) - pathogenic (recessive) g.80855281G>T g.78240365G>T - - CEP78_000001 - PubMed: Nikopoulos 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - CORD PatN10 PubMed: Nikopoulos 2016 2-generation family, 1 affected, unaffected parents M no Greece Greek - - - - 1 Konstantinos Nikopoulos
+/. - c.499+1G>T r.spl? p.? Unknown - pathogenic g.80855281G>T g.78240365G>T - - CEP78_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.499+5G>A r.427_499del p.Gly143Leufs*6 Parent #1 - pathogenic (recessive) g.80855285G>A g.78240369G>A - - CEP78_000002 - PubMed: Nikopoulos 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - CORD FamPat2716s15/2702r34 PubMed: Nikopoulos 2016 2-generation family, 2 affected (f, M), unaffected parents F;M no Sweden Swedish - - - - 2 Konstantinos Nikopoulos
?/. 4 c.515T>G r.(?) p.(Ile172Arg) Both (homozygous) ACMG VUS g.80856627T>G - - - CEP78_000038 - PubMed: Bahena 2021 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing deafness, retinal degeneration Pat39 PubMed: Bahena 2021 - F yes Iran - - - - - 1 Barbara Vona
?/. 4 c.515T>G r.(?) p.(Ile172Arg) Parent #1 ACMG VUS g.80856627T>G - - - CEP78_000038 - PubMed: Bahena 2021 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing deafness, retinal degeneration Pat40 PubMed: Bahena 2021 - F yes Iran - - - - - 2 Barbara Vona
?/. - c.515T>G r.(?) p.(Ile172Arg) Both (homozygous) ACMG VUS g.80856627T>G g.78241711T>G - - CEP78_000038 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-10 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. 4 c.534del r.(?) p.(Lys179Argfs*10) Both (homozygous) - likely pathogenic (recessive) g.80856646del g.78241730del 534delT - CEP78_000004 - PubMed: Namburi 2016 - - Germline ? - - - - DNA SEQ - - ? Mol1310PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents M no Iran;Iraq Jewish-Oriental - - - - 1 Prasanthi Namburi
+/. 4 c.534del r.(?) p.(Lys179Argfs*10) Both (homozygous) - pathogenic g.80856646del g.78241730del - - CEP78_000009 - Sharon, submitted - - Germline - - - - - DNA SEQ - - CRDHL - Sharon, submitted - M no Israel Iraq;Jewish - - - - 1 Dror Sharon
+/. 4 c.534del r.(?) p.(Lys179Argfs*10) Unknown - pathogenic g.80856646del g.78241730del - - CEP78_000009 - Sharon, submitted - - Germline - - - - - DNA SEQ - - CRDHL - Sharon, submitted - M no Israel Jewish-Oriental - - - - 1 Dror Sharon
+/. - c.534del r.(?) p.(Lys179Argfs*10) Unknown ACMG pathogenic g.80856646del - - - CEP78_000004 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+?/. 4 c.534del r.(?) p.(Lys179Argfs*10) Both (homozygous) - likely pathogenic (recessive) g.80856646del g.78241730del 534delT - CEP78_000004 - PubMed: Namburi 2016 - - Germline ? - - - - DNA SEQ - - ? TB279PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents M no Iran;Iraq Jewish-Oriental - - - - 1 Prasanthi Namburi
+?/. 4 c.534del r.(?) p.(Lys179Argfs*10) Maternal (confirmed) - likely pathogenic (recessive) g.80856646del g.78241730del 534delT - CEP78_000004 - PubMed: Namburi 2016 - - Germline ? - - - - DNA SEQ - - ? TB365PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents M no Iraq - - - - - 1 Prasanthi Namburi
+/. 4 c.534del r.(?) p.(Lys179Argfs*10) Parent #2 ACMG pathogenic (recessive) g.80856646del g.78241730del - - CEP78_000004 - PubMed: Bahena 2021 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing deafness, retinal degeneration Pat40 PubMed: Bahena 2021 - F yes Iran - - - - - 2 Barbara Vona
+/. 4 c.534del r.(?) p.(Lys179ArgfsTer10) Both (homozygous) ACMG pathogenic g.80856646del g.78241730del - - CEP78_000004 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079818 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.580_584del r.(?) p.(Asp194Hisfs*14) Unknown - likely pathogenic g.80856692_80856696del - CEP78(NM_001349839.2):c.580_584delGATCA (p.D194Hfs*14) - CEP78_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.633del r.633del p.Trp212Glyfs*18 Parent #2 - pathogenic (recessive) g.80858407del g.78243491del 633delC - CEP78_000003 - PubMed: Nikopoulos 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - CORD FamPat2716s15/2702r34 PubMed: Nikopoulos 2016 2-generation family, 2 affected (f, M), unaffected parents F;M no Sweden Swedish - - - - 2 Konstantinos Nikopoulos
+/. - c.635G>A r.(?) p.(Trp212Ter) Parent #1 - pathogenic (recessive) g.80858409G>A g.78243493G>A - - CEP78_000052 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-4 PubMed: Igelman 2021 - F no - - - - - - 1 Johan den Dunnen
-?/. - c.798C>T r.(?) p.(Cys266=) Unknown - likely benign g.80861604C>T g.78246688C>T CEP78(NM_001098802.3):c.798C>T (p.C266=) - CEP78_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.827del r.(?) p.(Leu276Cysfs*2) Both (homozygous) - likely pathogenic g.80861633del g.78246717del - - CEP78_000037 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.827del r.(?) p.(Leu276CysfsTer2) Both (homozygous) ACMG pathogenic (recessive) g.80861633del g.78246717del - - CEP78_000037 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHII-238 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.830T>C r.(?) p.(Leu277Pro) Both (homozygous) - likely pathogenic g.80861636T>C g.78246720T>C CEP78 c.830T>C, p.L277P - CEP78_000043 homozygous PubMed: Shen 2021 - - Germline yes - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F8‑III PubMed: Shen 2021 - F yes China - - - - - 1 LOVD
?/. - c.851C>G r.(?) p.(Thr284Arg) Unknown - VUS g.80861657C>G - CEP78(NM_001349839.1):c.851C>G (p.T284R) - CEP78_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6i c.893-1G>A r.893_957del p.Asp298Valfs*17 Both (homozygous) - pathogenic (recessive) g.80863206G>A g.78248290G>A - - CEP78_000005 - PubMed: Namburi 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? MOL0679PatIII2/1 PubMed: Namburi 2016 3-generation family, 2 affected brothers, unaffected parents M yes Afghanistan Jewish-Oriental - - - - 2 Prasanthi Namburi
+?/. 6i c.893-1G>A r.893_957del p.Asp298Valfs*17 Both (homozygous) - likely pathogenic (recessive) g.80863206G>A g.78248290G>A - - CEP78_000005 - PubMed: Namburi 2016 - - Germline yes - - - - DNA SEQ - - CORD MOL0773PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents F yes Israel Jewish-Oriental - - - - 1 Prasanthi Namburi
+/. 5i c.893-1G>A r.spl p.? Both (homozygous) - pathogenic g.80863206G>A g.78248290G>A - - CEP78_000005 - Sharon, submitted - - Germline - - - - - DNA SEQ - - CRDHL - Sharon, submitted - M yes Israel Jewish-Oriental - - - - 2 Dror Sharon
+/. 5i c.893-1G>A r.spl p.? Unknown - pathogenic g.80863206G>A g.78248290G>A - - CEP78_000005 - Sharon, submitted - - Germline - - - - - DNA SEQ - - CRDHL - Sharon, submitted - M no Israel Jewish-Oriental - - - - 1 Dror Sharon
+/. - c.893-1G>A r.spl p.? Unknown ACMG pathogenic g.80863206G>A - - - CEP78_000005 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+?/. - c.893-1G>A r.(893_957del) p.(Asp298Valfs*17) Paternal (confirmed) - pathogenic (recessive) g.80863206G>A - - - CEP78_000005 - PubMed: Namburi 2016 - - Germline - - - - - DNA SEQ - - ? TB365PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents M no Iraq - - - - - 1 Prasanthi Namburi
-?/. - c.898T>C r.(?) p.(Ser300Pro) Unknown - likely benign g.80863212T>C g.78248296T>C CEP78(NM_001330691.2):c.898T>C (p.S300P) - CEP78_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.955G>C r.(?) p.(Glu319Gln) Unknown - benign g.80863269G>C g.78248353G>C CEP78(NM_001330691.2):c.955G>C (p.E319Q), CEP78(NM_001349839.2):c.955G>C (p.E319Q) - CEP78_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.955G>C r.(?) p.(Glu319Gln) Unknown - benign g.80863269G>C - CEP78(NM_001330691.2):c.955G>C (p.E319Q), CEP78(NM_001349839.2):c.955G>C (p.E319Q) - CEP78_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.957+5A>G r.spl? p.? Unknown - VUS g.80863276A>G g.78248360A>G CEP78(NM_001330691.2):c.957+5A>G - CEP78_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.966G>A r.(?) p.(Trp322Ter) Unknown - likely pathogenic g.80863686G>A - - - CEP78_000039 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.966G>A r.(?) p.(Trp322Ter) Unknown ACMG pathogenic (recessive) g.80863686G>A g.78248770G>A - - CEP78_000039 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 1184922 - Germline - - - - - DNA SEQ-NG - WGS ? USHII-347 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - 4 Johan den Dunnen
?/. - c.988G>A r.(?) p.(Glu330Lys) Unknown - VUS g.80863708G>A g.78248792G>A CEP78(NM_001098802.3):c.988G>A (p.E330K) - CEP78_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1033G>T r.1033g>u p.(Gly345*) Both (homozygous) - pathogenic (recessive) g.80863753G>T g.78248837G>T - - CEP78_000040 - PubMed: Fadaie 2021 - - Germline yes - - - - DNA SEQ-NG - - retinal disease Pat8 PubMed: Fadaie 2021 - M - Israel - - - - - 1 Zeinab Fadaie
+/. 8 c.1056del r.(?) p.(Thr353Leufs*5) Both (homozygous) ACMG VUS g.80863776del g.78248860del - - CEP78_000006 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease 56ORG1 PubMed: de Castro-Miró 2016 - F ? Spain - - - - - 1 Marta de Castro-Miró
-?/. - c.1071A>G r.(?) p.(=) Unknown - likely benign g.80866822A>G - CEP78(NM_001330691.3):c.1070-2A>G - CEP78_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1140C>G r.(?) p.(Pro380=) Unknown - likely benign g.80866891C>G g.78251975C>G CEP78(NM_001330691.2):c.1137C>G (p.P379=) - CEP78_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1174C>A r.(?) p.(Pro392Thr) Unknown - VUS g.80866925C>A - CEP78(NM_001349839.1):c.1174C>A (p.P392T) - CEP78_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1175C>T r.(?) p.(Pro392Leu) Both (homozygous) - pathogenic (recessive) g.80866926C>T g.78252010C>T - - CEP78_000053 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-7 PubMed: Igelman 2021 - F yes - - - - - - 1 Johan den Dunnen
-?/. - c.1197A>G r.(?) p.(Ala399=) Unknown - likely benign g.80866948A>G g.78252032A>G CEP78(NM_001098802.3):c.1197A>G (p.A399=), CEP78(NM_001349839.1):c.1197A>G (p.A399=) - CEP78_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197A>G r.(?) p.(Ala399=) Unknown - likely benign g.80866948A>G g.78252032A>G CEP78(NM_001098802.3):c.1197A>G (p.A399=), CEP78(NM_001349839.1):c.1197A>G (p.A399=) - CEP78_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1208+2T>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.80866961T>A g.78252045T>A hg38:g.78252045T>A - CEP78_000036 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CRDHL - - - M yes Turkey - - - - - 1 Elfride De Baere
+/. - c.1209-2A>C r.spl p.? Paternal (confirmed) - likely pathogenic (recessive) g.80868146A>C g.78253230A>C hg38:g.78253230A>C - CEP78_000034 - - 836906 rs778035330 Germline - - - - - DNA SEQ-ON, SEQ-NG - - CRDHL - - - F - Denmark - - - - - 1 Elfride De Baere
+/. - c.1254+5G>A r.1209_1254del p.Arg403Serfs*7 Both (homozygous) - pathogenic (recessive) g.232079571G>A - - - CEP78_000028 - PubMed: Fu 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES USH Fam1 PubMed: Fu 2017 2-generation family, 2 affected sisters, unaffected parents F yes China - - - - - 2 Johan den Dunnen
?/. - c.1276G>C r.(?) p.(Val426Leu) Unknown - VUS g.80869773G>C - CEP78(NM_001349839.1):c.1276G>C (p.V426L) - CEP78_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365A>G r.(?) p.(Ile455Met) Unknown - likely benign g.80869862A>G g.78254946A>G CEP78(NM_001330691.2):c.1362A>G (p.I454M) - CEP78_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1403_1405delinsCTTT r.(?) p.(Leu468Profs*13) Parent #1 - likely pathogenic g.80877842_80877844delinsCTTT g.78262926_78262928delinsCTTT CEP78, variant 1: c.1403_1405delinsCTTT/ p.L468Pfs*13 , variant 2: c.1427del/p.V476Gfs*2 - CEP78_000041 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 542 PubMed: Weisschuh 2020 Filing key number: 191, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1427del r.(?) p.(Val476Glyfs*2) Parent #1 - likely pathogenic g.80877866del g.78262950del CEP78, variant 1: c.1403_1405delinsCTTT/ p.L468Pfs*13 , variant 2: c.1427del/p.V476Gfs*2 - CEP78_000042 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 542 PubMed: Weisschuh 2020 Filing key number: 191, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.1427del r.(?) p.(Val476GlyfsTer2) Both (homozygous) ACMG pathogenic (recessive) g.80877866del g.78262950del - - CEP78_000042 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 813161 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-812 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.1449dup r.(?) p.(Arg484Thrfs*4) Maternal (confirmed) - likely pathogenic (recessive) g.80877888dup g.78262972dup g.78262972dup, c.1449dup, p.(Arg484Thrfs*4) - CEP78_000033 c.1449dup detected via WES-NGS and combined with exon 1-5 deletion of paternal origin (PMID:30526634) confirmed with Oxford Nanopore - - - Germline - - - - - DNA SEQ-ON - - CRDHL - - - F - Belgium - - - - - 1 Elfride De Baere
+/. - c.1449dup r.(?) p.(Arg484Thrfs*4) Unknown - pathogenic g.80877888dup - CEP78(NM_001349839.2):c.1449dupA (p.R484Tfs*4) - CEP78_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1462-1G>T r.1462_1628del p.Leu488fs Maternal (confirmed) - likely pathogenic (recessive) g.80879065G>T g.78264149G>T - - CEP78_000024 - PubMed: Ascari 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ-NG - - CRDHL Fam3PatII1 PubMed: Ascari 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Germany - - - - - 2 Elfride De Baere
+?/. - c.1462-1G>T r.spl p.? Maternal (confirmed) - likely pathogenic (recessive) g.80879065G>T g.78264149G>T - - CEP78_000024 - PubMed: Ascari 2020 - - Germline yes - - - - DNA SEQ-NG - - CRDHL Fam3PatII2 PubMed: Ascari 2020 brother M - Germany - - - - - 1 Elfride De Baere
-/. - c.1569C>T r.(?) p.(Gly523=) Unknown - benign g.80879173C>T g.78264257C>T CEP78(NM_001098802.3):c.1569C>T (p.G523=), CEP78(NM_001330691.2):c.1566C>T (p.G522=) - CEP78_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569C>T r.(?) p.(Gly523=) Unknown - likely benign g.80879173C>T g.78264257C>T CEP78(NM_001098802.3):c.1569C>T (p.G523=), CEP78(NM_001330691.2):c.1566C>T (p.G522=) - CEP78_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1629-7C>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.80880281C>A g.78265365C>A - - CEP78_000054 - PubMed: Igelman 2021 - - Germline - - - - - DNA SEQ - - retinal disease CEP78-3 PubMed: Igelman 2021 - F yes - - - - - - 1 Johan den Dunnen
-?/. - c.1629-6dup r.(=) p.(=) Unknown - likely benign g.80880282dup - CEP78(NM_001349839.2):c.1629-6dupG - CEP78_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1629-2A>G r.1629_1638del p.Gly545Profs*6 Both (homozygous) - pathogenic (recessive) g.80880286A>G - - - CEP78_000029 - PubMed: Fu 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES USH Fam2 PubMed: Fu 2017 5-generation family, 2 affected (F, M), unaffected parents F;M yes China - - - - - 2 Johan den Dunnen
-?/. - c.1783C>A r.(?) p.(Gln595Lys) Unknown - likely benign g.80880442C>A - CEP78(NM_001349839.2):c.1783C>A (p.Q595K) - CEP78_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1800+17G>T r.(=) p.(=) Unknown - likely benign g.80880476G>T - CEP78(NM_001349839.2):c.1800+17G>T - CEP78_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1849-1G>C r.spl? p.? Unknown - pathogenic g.80881357G>C g.78266441G>C CEP78(NM_001098802.3):c.1849-1G>C, CEP78(NM_001349839.1):c.1849-1G>C - CEP78_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1849-1G>C r.spl? p.? Unknown - VUS g.80881357G>C g.78266441G>C CEP78(NM_001098802.3):c.1849-1G>C, CEP78(NM_001349839.1):c.1849-1G>C - CEP78_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1849-1G>C r.spl? p.? Unknown - VUS g.80881357G>C g.78266441G>C CEP78(NM_001098802.3):c.1849-1G>C, CEP78(NM_001349839.1):c.1849-1G>C - CEP78_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2080A>C r.(?) p.(Arg694=) Unknown - likely benign g.80881589A>C - CEP78(NM_001349839.1):c.2080A>C (p.R694=), CEP78(NM_001349839.2):c.2080A>C (p.R694=) - CEP78_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2080A>C r.(?) p.(Arg694=) Unknown - likely benign g.80881589A>C - CEP78(NM_001349839.1):c.2080A>C (p.R694=), CEP78(NM_001349839.2):c.2080A>C (p.R694=) - CEP78_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2150G>A r.(?) p.(Gly717Glu) Unknown - likely benign g.80881659G>A g.78266743G>A CEP78(NM_001098802.2):c.2150G>A (p.G717E) - CEP78_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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