Full data view for gene FZD4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_012193.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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     

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Owner     
-?/. - c.205C>T r.(?) p.(His69Tyr) Unknown - likely benign g.86665923G>A g.86954881G>A FZD4(NM_012193.3):c.205C>T (p.H69Y) - FZD4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.205C>T r.(?) p.(His69Tyr) Maternal (confirmed) - pathogenic g.86665923G>A g.86954881G>A p.H69Y - FZD4_000035 - PubMed: Omoto 2004 - - Germline yes - - - - DNA SEQ-PB blood - EVR;FEVR Patient 1 Omoto 2004 PubMed: Omoto 2004 2-generation family, affected mother/daughter/son F no Japan - 06y - - - 1 Dimitra Ilektra Lerou
+/. - c.205C>T r.(?) p.(His69Tyr) Paternal (confirmed) - pathogenic g.86665923G>A - H69Y - FZD4_000035 - PubMed: Jia 2010 - - Germline yes - - - - DNA ? blood - EVR;FEVR Fam14 PubMed: Jia 2010 3-generation family, 2 affected mother/son, parents carriers for two different mutations but asymptomatic F no China - 35y - - - 2 Dimitra Ilektra Lerou
+/. - c.205C>T r.(?) p.(His69Tyr) Maternal (confirmed) - pathogenic g.86665923G>A g.86954881G>A H69Y - FZD4_000035 - PubMed: Jia 2010 - - Germline yes - - - - DNA ? blood - EVR;FEVR Fam15 PubMed: Jia 2010 3-generation family, affected mother/son M no China - 00y06m - - - 2 Dimitra Ilektra Lerou
+/. 1 c.205C>T r.(?) p.(His69Tyr) Paternal (confirmed) - pathogenic (dominant) g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Xu 2019 143141 rs80358282 Germline yes 2/68 patients, 0/500 individual controls - - - DNA SEQ-NG-I peripheral blood Sanger sequencing EVR1 Fam2PatII1 PubMed: Xu 2019 2-generation family, affected father daughter F ? China Chinese - - - - 2 Dong Sun
+/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - VUS g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Xu 2019 143141 rs80358282 Germline yes 2/68 patients, 0/500 individual controls - - - DNA SEQ-NG-I peripheral blood Sanger sequencing EVR1 Fam2PatI1 PubMed: Xu 2019 father M - (China) Chinese - - - - 1 Dong Sun
?/. 1 c.205C>T r.(?) p.(His69Tyr) Paternal (confirmed) ACMG VUS g.86665923G>A g.86954881G>A c.205C>T, p.H69Y - FZD4_000035 - PubMed: Surl 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 11 PubMed: Li 2018 - F - China - - - - - 1 LOVD
+/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - likely pathogenic g.86665923G>A - c.205C>T - FZD4_000035 - PubMed: Kondo-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Kondo-2013 The father of patient carried the p.H69Y change and no sign of FEVR was found. M no - Japanese - - - - 1 LOVD
?/. - c.205C>T r.(?) p.(His69Tyr) Paternal (confirmed) - VUS g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Li 2018 - - Germline no - - - - DNA SEQ-NG blood - retinal disease C151029C03901 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
?/. - c.205C>T r.(?) p.(His69Tyr) Maternal (confirmed) - VUS g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Li 2018 - - Germline no - - - - DNA SEQ-NG blood - retinal disease C151201C02501 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
?/. - c.205C>T r.(?) p.(His69Tyr) Maternal (confirmed) - VUS g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Li 2018 - - Germline no - - - - DNA SEQ-NG blood - retinal disease C160324C03601c PubMed: Li 2018 - ? - China - - - - - 1 LOVD
?/. - c.205C>T r.(?) p.(His69Tyr) Paternal (confirmed) - VUS g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Li 2018 - - Germline no - - - - DNA SEQ-NG blood - retinal disease C160517C03501 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
?/. - c.205C>T r.(?) p.(His69Tyr) Maternal (confirmed) - VUS g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Li 2018 - - Germline no - - - - DNA SEQ-NG blood - retinal disease C160728C04101 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
?/. - c.205C>T r.(?) p.(His69Tyr) Paternal (confirmed) - VUS g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C160513C00301 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - pathogenic g.86665923G>A - c.205C>T - FZD4_000035 - PubMed: Qin-2005 - - Unknown - 2/56 patients; 2/150 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: Qin-2005 - - no Japan Japanese - - - - 2 LOVD
+?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - likely pathogenic g.86665923G>A g.86954881G>A FZD4 205C?>?T, His69Tyr - FZD4_000035 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.205C>T r.(?) p.(His69Tyr) Unknown - likely pathogenic g.86665923G>A g.86954881G>A c.C205T;p.H69Y - FZD4_000035 - PubMed: Tian 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 15 PubMed: Tian 2019 - ? - China - - - - - 1 LOVD
?/. - c.205C>T r.(?) p.(His69Tyr) Unknown - VUS g.86665923G>A g.86954881G>A c.205G>A, p.(His69Tyr) - FZD4_000035 error in annotation: NM_012193.3(FZD4):c.205G>A instead of C>T, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13415 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. - c.205C>T r.(?) p.(His69Tyr) Maternal (confirmed) - pathogenic (dominant) g.86665923G>A - - - FZD4_000035 - PubMed: Jia 2010 - - Germline yes - - - - DNA SEQ - - EVR;FEVR Fam3 PubMed: Jia 2010 3-generation family, 3 affected (2F, M), mother/daughter/son M - China - - - - - 1 Johan den Dunnen
+/. - c.205C>T r.(?) p.(His69Tyr) Maternal (confirmed) - pathogenic (dominant) g.86665923G>A - - - FZD4_000035 - PubMed: Jia 2010 - - Germline yes - - - - DNA SEQ - - EVR;FEVR Fam4 PubMed: Jia 2010 3-generation family, 3 affected (2F, M), grandfather/mother/daughter F - China - - - - - 3 Johan den Dunnen
+?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - likely pathogenic g.86665923G>A g.86954881G>A FZD4 c.205C>T, H69Y - FZD4_000035 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 5 PubMed: Dailey 2015 - - - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - M - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - F - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - F - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Unknown - association g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous; risk allele; previous publications - reporter assay showed that the p.H69Y variant caused a mild but significant reduction of the signaling activity; cell surface binding assay with Norrin showed that p.H69Y had impaired cell surface binding PubMed: Kondo 2018 - - Unknown ? Japanese population: 1.21% (n = 1,157); high compared with the frequencies of other populations in the public databases; 0.02% - - - DNA SEQ blood - EVR1 ? PubMed: Kondo 2018 - F - - - - - - - 1 LOVD
?/. 1 c.205C>T r.(?) p.(His69Tyr) Maternal (confirmed) - VUS g.86665923G>A g.86954881G>A FZD4 c.205C>T (p.H69Y) - FZD4_000035 heterozygous PubMed: Zhang 2019 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease ? PubMed: Zhang 2019 - M - - - - - - standard phacoemulsification both eyes; compound neomycin sulfate eye drops, gatifloxacin eye drops, and diclofenac sodium eye drops 4 times per day; brinzolamide eye drops 3 times a day, when the patient showed high intraocular pressure 1 LOVD
+?/. - c.205C>T r.(?) p.(His69Tyr) Paternal (confirmed) - VUS (!) g.86665923G>A - - - FZD4_000035 variant may have some causative effects PubMed: Kondo 2003 - - Germline - - - - - DNA SEQ - - EVR;FEVR Fam4PatI1 PubMed: Kondo 2003 2-generation family, affected mother/son F - - - - - - - 2 Johan den Dunnen
+?/. - c.205C>T r.(?) p.(His69Tyr) Unknown - VUS (!) g.86665923G>A - - - FZD4_000035 may have some causative effects PubMed: Kondo 2003 - - Germline/De novo (untested) - - - - - DNA SEQ - - EVR;FEVR Pat6 PubMed: Kondo 2003 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.205C>T r.(?) p.(His69Tyr) Unknown - VUS (!) g.86665923G>A - - - FZD4_000035 - PubMed: Kondo 2003 - - Germline - 2/150 controls - - - DNA SEQ - - Healthy/Control - PubMed: Kondo 2003 healthy controls - - Japan - - - - - 2 Johan den Dunnen
+/. - c.205C>T r.(?) p.(His69Tyr) Unknown - pathogenic g.86665923G>A g.86954881G>A - - FZD4_000035 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat40 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
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