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.

50 entries on 1 page. Showing entries 1 - 50.
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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     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+/. 2 c.313A>G r.(?) p.(Met105Val) Parent #1 - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 0/300 control chromosomes Kondo 2003 - - Germline yes 1/24 - - - DNA SEQ - - EVR;FEVR - Kondo 2003 - - - - - - - - - 1 Johan den Dunnen
?/. - c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) - VUS g.86663485T>C g.86952443T>C - - FZD4_000013 mother maternal carrier PubMed: Wu 2016 - - Germline yes - - - - DNA SEQ - gene panel EVR1, EVR;FEVR E1 II:1 PubMed: Wu 2016 2 generation family, 2 affected (1 non-penetrant carrier) M no Taiwan - - - - - 2 Jasmine Chen
+/. - c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Iwata 2019 - - Germline/De novo (untested) yes - - - - DNA ? - - EVR1 Patient 1 Iwata 2019 PubMed: Iwata 2019 sister of proband had FEVR in infancy and required photocoagulation M no Japan - 03y - - - 1 Dimitra Ilektra Lerou
+/. - c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C M105V - FZD4_000013 - PubMed: Tang 2016 - - De novo yes - - - - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 14 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 10y - - - 1 Dimitra Ilektra Lerou
+/. - c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C M105V - FZD4_000013 - PubMed: Tang 2016 - - De novo yes - - - - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 15 Tang 2016 PubMed: Tang 2016 2-generation family, affected both children M no China Southern Chinese 10y - - - 1 Dimitra Ilektra Lerou
+/. - c.313A>G r.(?) p.(Met105Val) Paternal (confirmed) - pathogenic (dominant) g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Kondo 2003 - - Germline yes - - - - DNA ? blood - EVR;FEVR Fam1PatIII1 PubMed: Kondo 2003 3-generation family, 4 affected (4M) M no Japan - - - - - 1 Dimitra Ilektra Lerou
+/. - c.313A>G r.(?) p.(Met105Val) Parent #1 - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 790-gene panel retinal disease Pat9 PubMed: Huang 2017 - F - China - - - - - 1 LOVD
+/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam7 PubMed: Musada 2016 see paper - - India - - - - - 1 LOVD
+/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam8 PubMed: Musada 2016 see paper - - India - - - - - 1 LOVD
+/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam9 PubMed: Musada 2016 see paper - - India - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12000347 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Parent #1 - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM344 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Parent #1 - likely pathogenic (dominant) g.86663485T>C g.86952443T>C - - FZD4_000013 not in 358 control alleles PubMed: Seo 2015 - - Germline yes - - - - DNA SEQ - - retinal disease FamPat2-1 PubMed: Seo 2015 family, 2 affected F - Korea - - - - - 2 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Parent #1 - likely pathogenic (dominant) g.86663485T>C g.86952443T>C - - FZD4_000013 not in 358 control alleles PubMed: Seo 2015 - - Germline yes - - - - DNA SEQ - - retinal disease FamPat2-2 PubMed: Seo 2015 relative M - Korea - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Parent #1 - likely pathogenic (dominant) g.86663485T>C g.86952443T>C - - FZD4_000013 not in 358 control alleles PubMed: Seo 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat3 PubMed: Seo 2015 - M - Korea - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Parent #1 - likely pathogenic (dominant) g.86663485T>C g.86952443T>C - - FZD4_000013 not in 358 control alleles PubMed: Seo 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat4 PubMed: Seo 2015 - M - Korea - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Parent #1 - likely pathogenic (dominant) g.86663485T>C g.86952443T>C - - FZD4_000013 not in 358 control alleles PubMed: Seo 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat5 PubMed: Seo 2015 - M - Korea - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Salvo 2015 - rs80358284 Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 874001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Salvo 2015 - rs80358284 Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 7067001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+?/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C - c.313A>G - FZD4_000013 - PubMed: Yang-2012 - - Germline yes 2/49 families - - - DNA SEQ blood - retinal disease - PubMed: Yang-2012 - F - China - - - - - 1 LOVD
+?/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C - c.313A>G - FZD4_000013 - PubMed: Yang-2012 - - Germline yes 2/49 families - - - DNA SEQ blood - retinal disease - PubMed: Yang-2012 - M - China - - - - - 1 LOVD
+?/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C - c.313A>G - FZD4_000013 - PubMed: Yang-2012 - - Germline yes 2/49 families - - - DNA SEQ blood - retinal disease - PubMed: Yang-2012 - F - China - - - - - 1 LOVD
+?/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C - c.313A>G - FZD4_000013 - PubMed: Yang-2012 - - Germline yes 2/49 families - - - DNA SEQ blood - retinal disease - PubMed: Yang-2012 - M - China - - - - - 1 LOVD
+?/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C - c.313A>G - FZD4_000013 - PubMed: Yang-2012 - - Germline yes 2/49 families - - - DNA SEQ blood - retinal disease - PubMed: Yang-2012 - M - China - - - - - 1 LOVD
+?/. 2 c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) ACMG likely pathogenic g.86663485T>C g.86952443T>C c.313A>G, p.M105V - FZD4_000013 - PubMed: Surl 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 2 PubMed: Li 2018 - F - China - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 2015-S07652 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C150722C02601 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Paternal (confirmed) - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C151204C00101 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C160104C04601 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C160201C00801d PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C - c.313A>G - FZD4_000013 - PubMed: Qin-2005 - - Unknown - 1/56 patients; 0/150 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: Qin-2005 - - no Japan Japanese - - - - 1 LOVD
+?/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 313A?>?G, Met105Val - FZD4_000013 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C 1589G>A, Gly530Glu - FZD4_000013 - PubMed: Chen 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood paediatric disease gene panel retinal disease RD020_II:1 PubMed: Chen 2019 proband, family RD020, individual II:1 F no China - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C c.313T>C, p.(Met105Val) - FZD4_000013 error in annotation: NM_012193.3(FZD4):c.313T>C instead of A>G, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13792 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C c.313T>C, p.(Met105Val) - FZD4_000013 error in annotation: NM_012193.3(FZD4):c.313T>C instead of A>G, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14174 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C c.313A>G, p.(Met105Val) - FZD4_000013 error in annotation: NM_012193.3(FZD4):c.313T>C instead of A>G, PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14731 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4;NM_012193.3;c.[313A>G];[313=];p.[(Met105Val)];[(Met105=)](causeofADFEVR) - FZD4_000013 heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 105 genes panel retinal disease 55 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C 313A>G, Met105Val - FZD4_000013 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 458 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. 2 c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) ACMG pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 heterozygous PubMed: Li 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 7 PubMed: Li 2020 - F - - - - - - - 1 LOVD
+?/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic (dominant) g.86663485T>C - c.313A>G - FZD4_000013 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Robitaille 2011 - - Germline yes - - - - DNA SEQ blood - EVR1 X_I 2 PubMed: Robitaille 2011 pedigree X F - - Finnish - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Robitaille 2011 - - Germline yes - - - - DNA SEQ blood - EVR1 X_II 1 PubMed: Robitaille 2011 pedigree X M - - Finnish - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Robitaille 2011 - - Germline yes - - - - DNA SEQ blood - EVR1 X_II 3 PubMed: Robitaille 2011 pedigree X M - - Finnish - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Robitaille 2011 - - Germline yes - - - - DNA SEQ blood - EVR1 X_II 4 PubMed: Robitaille 2011 pedigree X M - - Finnish - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Robitaille 2011 - - Germline yes - - - - DNA SEQ blood - EVR1 X_II 6 PubMed: Robitaille 2011 pedigree X M - - Finnish - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Robitaille 2011 - - Germline yes - - - - DNA SEQ blood - EVR1 X_II 10 PubMed: Robitaille 2011 pedigree X M - - Finnish - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Robitaille 2011 - - Germline yes - - - - DNA SEQ blood - EVR1 X_II 11 PubMed: Robitaille 2011 pedigree X F - - Finnish - - - - 1 LOVD
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C FZD4 c.313A>G, p.M105V - FZD4_000013 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Robitaille 2011 - - Germline yes - - - - DNA SEQ blood - EVR1 X_II 12 PubMed: Robitaille 2011 pedigree X M - - Finnish - - - - 1 LOVD
+/. - c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) - pathogenic g.86663485T>C - - - FZD4_000013 - PubMed: Jia 2010 - - Germline yes - - - - DNA SEQ - - EVR;FEVR Fam5 PubMed: Jia 2010 2-generation family, 2 affected (2F), mother/daughter F - China - - - - - 2 Johan den Dunnen
+/. - c.313A>G r.(?) p.(Met105Val) Paternal (confirmed) - pathogenic g.86663485T>C - - - FZD4_000013 - PubMed: Jia 2010 - - Germline yes - - - - DNA SEQ - - EVR1 Fam6 PubMed: Jia 2010 3-generation family, 2 affected (F, M) father/daughter F - China - - - - - 2 Johan den Dunnen
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