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.

171 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.? r.(?) p.(Leu443Met) Unknown - VUS g.? - - - DRD4_000002 - PubMed: Heidet 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K135 PubMed: Heidet 2017 affected patient and 1st degree relative (BO) - - France - - 0 - - 2 Johan den Dunnen
+?/. - c.? r.0 p.0 Parent #1 - likely pathogenic (dominant) g.? - whole gene deletion - DRD4_000002 - PubMed: Seo 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease Pat13 PubMed: Seo 2015 - M - Korea - - 0 - - 1 -
-?/. - c.-12C>A r.(?) p.(=) Unknown - likely benign g.86666139G>T g.86955097G>T FZD4(NM_012193.3):c.-12C>A - FZD4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.-313_(285+1_286-1)[0] r.0? p.0? Unknown - pathogenic (dominant) g.(86663513_86665842)_(86666440_?)del g.(86952471_86954800)_(86955398_?)del del exon 1 - FZD4_000077 - PubMed: Mammo 2015 - - Germline/De novo (untested) - - - 0 - DNA ? - - EVR1, SMA Patient 1 Mammo 2015 PubMed: Mammo 2015 - M no Taiwan - 00y08m 0 - - 1 Dimitra Ilektra Lerou
+/. - c.40_49del r.(?) p.(Pro14SerfsTer44) Unknown - pathogenic g.86666089_86666098del g.86955047_86955056del - - FZD4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.40_49del r.(?) p.(Pro14Serfs*44) Both (homozygous) - pathogenic g.86666089_86666098del g.86955047_86955056del 40_49delCCCGGGGGCG - FZD4_000050 - PubMed: TKhan 2016 - - Germline yes - - 0 - DNA SEQ venous blood - EVR;FEVR Patient 1 Khan 2016 PubMed: Khan 2016 2-generation family, unaffected parents/sisters, two affected brothers M ? United Arab Emirates - ? 0 - - 2 Dimitra Ilektra Lerou
+/. - c.40_49del r.(?) p.(Pro14Serfs*44) Both (homozygous) - pathogenic g.86666089_86666098del g.86955047_86955056del 40_49delCCCGGGGGCG - FZD4_000050 - PubMed: Khan 2016 - - Germline yes - - 0 - DNA SEQ venous blood - EVR;FEVR Patient 2 Khan 2016 PubMed: Khan 2016 2-generation family, unaffected parents/sisters, two affected brothers M ? United Arab Emirates - ? 0 no - 1 Dimitra Ilektra Lerou
?/. - c.47G>A r.(?) p.(Gly16Asp) Unknown - VUS g.86666081C>T g.86955039C>T FZD4(NM_012193.3):c.47G>A (p.G16D) - FZD4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.48C>T r.(?) p.(Gly16=) Unknown - benign g.86666080G>A g.86955038G>A FZD4(NM_012193.3):c.48C>T (p.G16=) - FZD4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.97C>T r.(?) p.(Pro33Ser) Paternal (confirmed) - pathogenic g.86666031G>A g.86954989G>A - - FZD4_000033 - PubMed: Nallathambi 2006 - - Germline - 1/53 families - 0 - DNA SEQ, SSCA - - EVR;FEVR 17093393-Fam1 PubMed: Nallathambi 2006 4-generation family, affected father/son M yes India - - 0 - - 2 Johan den Dunnen
-/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - benign g.86666031G>A g.86954989G>A - - FZD4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - pathogenic g.86666031G>A g.86954989G>A P33S - FZD4_000033 - PubMed: MacDonald 2005 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - EVR1 Patient 1 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? 0 - - 1 Dimitra Ilektra Lerou
+/. 1 c.107G>A r.(?) p.(Gly36Asp) Parent #1 - pathogenic g.86666021C>T g.86954979C>T - - FZD4_000011 0/400 control chromosomes Toomes 2004b - - Germline - 1/40 - 0 - DNA SEQ - - EVR;FEVR - Toomes 2004b - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.107G>A r.(?) p.(Gly36Asp) Unknown - pathogenic g.86666021C>T g.86954979C>T G36D - FZD4_000011 - PubMed: Tang 2016 - - Germline yes - - 0 - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 11 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 08y 0 - - 1 Dimitra Ilektra Lerou
+/. 1 c.118G>C r.(?) p.(Glu40Gln) Parent #1 - pathogenic g.86666010C>G g.86954968C>G - - FZD4_000012 0/100 control chromosomes; carries pathogenic variant LRP5:c.4489-1G>A PubMed: Nikopoulos 2010 - - Germline - 1/8 - 0 - DNA SEQ - - EVR;FEVR - PubMed: Nikopoulos 2010 - - - - - - 0 - - 1 Frans Cremers
?/. - c.118G>C r.(?) p.(Glu40Gln) Unknown - VUS g.86666010C>G g.86954968C>G - - FZD4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.118G>C r.(?) p.(Glu40Gln) Unknown - VUS g.86666010C>G g.86954968C>G - - FZD4_000012 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case71133 PubMed: Tiwari 2016 see paper F - Switzerland - - 0 - - 1 -
+/. 1 c.133T>A r.(?) p.(Cys45Ser) Maternal (confirmed) - pathogenic g.86665995A>T g.86954953A>T C45S - FZD4_000076 - PubMed: Tang 2015 - - Germline yes - - 0 - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 7 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother/elder sister, elder sister asymptomatic F no China Southern Chinese 00y07m 0 - - 1 Dimitra Ilektra Lerou
+/. 1 c.133T>C r.(?) p.(Cys45Arg) Paternal (confirmed) - pathogenic g.86665995A>G g.86954953A>G C45R - FZD4_000075 - PubMed: Tang 2015 - - Germline yes - - 0 - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 6 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/elder brother M no China Southern Chinese 08y 0 - - 1 Dimitra Ilektra Lerou
+/. 1 c.134G>A r.(?) p.(Cys45Tyr) Unknown - pathogenic g.86665994C>T g.86954952C>T C45Y - FZD4_000074 - PubMed: Tang 2015 - - Germline yes - - 0 - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 5 Tang 2016 PubMed: Tang 2016 2-generation, affected but asymptomatic father M no China Southern Chinese 06y 0 - - 1 Dimitra Ilektra Lerou
+/. 1 c.158G>C r.(?) p.(Cys53Ser) Unknown - pathogenic g.86665970C>G g.86954928C>G C53S - FZD4_000073 - PubMed: Tang 2016 - - Germline yes - - 0 - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 8 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother/sister both asymptomatic M no China Southern Chinese 08y 0 - - 1 Dimitra Ilektra Lerou
+?/. - c.160C>T r.(?) p.(Gln54Ter) Parent #1 - likely pathogenic (dominant) g.86665968G>A g.86954926G>A - - FZD4_000110 - PubMed: Seo 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease Pat1 PubMed: Seo 2015 - M - Korea - - 0 - - 1 -
?/. - c.177C>A r.(?) p.(Asn59Lys) Unknown - VUS g.86665951G>T g.86954909G>T FZD4(NM_012193.3):c.177C>A (p.N59K) - FZD4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - 0 - DNA SEQ-PB blood - EVR;FEVR Patient 1 Omoto 2004 PubMed: Omoto 2004 2-generation family, affected mother/daughter/son F no Japan - 06y 0 - - 1 Dimitra Ilektra Lerou
+/. 1 c.223G>A r.(?) p.(Ala75Thr) Unknown - pathogenic g.86665905C>T g.86954863C>T A75T - FZD4_000072 - PubMed: Tang 2016 - - Unknown yes - - 0 - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 9 Tang 2016 PubMed: Tang 2016 - F no China Southern Chinese 26y 0 - - 1 Dimitra Ilektra Lerou
+/. 1 c.244_251delinsGCAGCTCATCCAGTACGCCGAGCTGCA r.(?) p.(Phe82Alafs*54) Parent #1 - pathogenic g.86665877_86665884delinsTGCAGCTCGGCGTACTGGATGAGCTGC g.86954835_86954842delinsTGCAGCTCGGCGTACTGGATGAGCTGC 244_251del8ins27 (F82fsX135) - FZD4_000001 0/200 control chromosomes PubMed: Nallathambi 2006 - - Germline yes 1/53 families - 0 - DNA SEQ - - EVR;FEVR 17093393-Fam3 PubMed: Nallathambi 2006 3-generation family, 1 affected M no India - - 0 - - 1 Johan den Dunnen
+/. 1 c.268T>C r.(?) p.(Cys90Arg) Unknown - pathogenic g.86665860A>G g.86954818A>G C90R - FZD4_000071 - PubMed: Tang 2016 - - Germline yes - - 0 - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 10 Tang 2016 PubMed: Tang 2016 2-generation family, mother affected but asymptomatic F no China Southern Chinese 03y 0 - - 1 Dimitra Ilektra Lerou
+/. - c.277C>T r.(?) p.(Gln93Ter) Maternal (confirmed) - pathogenic g.86665851G>A g.86954809G>A - - FZD4_000097 - PubMed: Iarossi 2017 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam1 PubMed: Iarossi 2017 2-generation family, 1 affected, carrier mother M - Italy - - 0 - - 1 -
-?/. - c.285+18_285+23dup r.(=) p.(=) Unknown - likely benign g.86665830_86665835dup g.86954788_86954793dup FZD4(NM_012193.3):c.285+18_285+23dupCACCCC - FZD4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - 0 - DNA SEQ - - EVR;FEVR - Kondo 2003 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.313A>G r.(?) p.(Met105Val) Maternal (confirmed) - VUS g.86663485T>C g.69991122T>C - - FZD4_000013 mother maternal carrier Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Wu 2016 - - Germline yes - - 0 - 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 - - 0 - - 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 - - 0 - DNA ? - - EVR1 Patient 1 Iwata 2019 PubMed: Iwata 2019 sister of proband had FEVR in infancy and required photocoagulation M no Japan - 03y 0 - - 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 - - 0 - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 14 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 10y 0 - - 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 - - 0 - 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 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG - 790-gene panel retinal disease Pat9 PubMed: Huang 2017 - F - China - - 0 - - 1 -
+/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Musada 2016 - - Germline - - - 0 - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam7 PubMed: Musada 2016 see paper - - India - - 0 - - 1 -
+/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Musada 2016 - - Germline - - - 0 - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam8 PubMed: Musada 2016 see paper - - India - - 0 - - 1 -
+/. 2 c.313A>G r.(?) p.(Met105Val) Unknown - pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Musada 2016 - - Germline - - - 0 - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam9 PubMed: Musada 2016 see paper - - India - - 0 - - 1 -
+?/. - c.313A>G r.(?) p.(Met105Val) Unknown - likely pathogenic g.86663485T>C g.86952443T>C - - FZD4_000013 - PubMed: Ellingford 2016 - - Germline - - - 0 - DNA SEQ - 105-gene panel retinal disease 12000347 PubMed: Ellingford 2016 patient - - - - - 0 - - 1 -
+/. - 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 - 0 - DNA SEQ-NG - WES retinal disease HM344 PubMed: Sun 2015 proband - - China - - 0 - - 1 -
+?/. - 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 - - 0 - DNA SEQ - - retinal disease FamPat2-1 PubMed: Seo 2015 family, 2 affected F - Korea - - 0 - - 2 -
+?/. - 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 - - 0 - DNA SEQ - - retinal disease FamPat2-2 PubMed: Seo 2015 relative M - Korea - - 0 - - 1 -
+?/. - 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 - - - 0 - DNA SEQ - - retinal disease Pat3 PubMed: Seo 2015 - M - Korea - - 0 - - 1 -
+?/. - 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 - - - 0 - DNA SEQ - - retinal disease Pat4 PubMed: Seo 2015 - M - Korea - - 0 - - 1 -
+?/. - 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 - - - 0 - DNA SEQ - - retinal disease Pat5 PubMed: Seo 2015 - M - Korea - - 0 - - 1 -
+/. 2 c.314T>C r.(?) p.(Met105Thr) Parent #1 - pathogenic g.86663484A>G g.86952442A>G - - FZD4_000014 0/400 control chromosomes Toomes 2004b - - Germline - 1/40 - 0 - DNA SEQ - - EVR;FEVR - Toomes 2004b - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.341T>C r.(?) p.(Ile114Thr) Parent #1 - pathogenic g.86663457A>G g.86952415A>G - - FZD4_000015 - Robitaille 2009 - - Germline yes 1/2 - 0 - DNA SEQ - - EVR;FEVR - Robitaille 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.341T>G r.(?) p.(Ile114Ser) Unknown - pathogenic g.86663457A>C g.86952415A>C - - FZD4_000103 - PubMed: Musada 2016 - - Germline - - - 0 - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam1 PubMed: Musada 2016 see paper - - India - - 0 - - 1 -
+?/. - c.349T>C r.(?) p.(Cys117Arg) Unknown ACMG likely pathogenic g.86663449A>G - - - FZD4_000094 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.349T>C r.(?) p.(Cys117Arg) Unknown - pathogenic g.86663449A>G - - - FZD4_000094 - PubMed: Schatz 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel retinal disease FamPatI2 PubMed: Schatz 2017 2-generation family, affected mother, daughter and son F - Morocco - - 0 - - 3 Johan den Dunnen
+/. - c.349T>C r.(?) p.(Cys117Arg) Paternal (confirmed) - pathogenic (dominant) g.86663449A>G - - - FZD4_000094 - PubMed: Schatz 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel retinal disease FamPatII1 PubMed: Schatz 2017 daughter F - Morocco - - 0 - - 1 Johan den Dunnen
+/. - c.349T>C r.(?) p.(Cys117Arg) Paternal (confirmed) - pathogenic g.86663449A>G - - - FZD4_000094 - PubMed: Schatz 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel retinal disease FamPatII2 PubMed: Schatz 2017 son M - Morocco - - 0 - - 1 Johan den Dunnen
+?/. - c.349T>C r.(?) p.(Cys117Arg) Unknown - likely pathogenic g.86663449A>G g.86952407A>G - - FZD4_000094 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 11DG0114 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 1 -
?/. - c.356G>T r.(?) p.(Gly119Val) Unknown - VUS g.86663442C>A g.86952400C>A - - FZD4_000102 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case71703 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - 1 -
+/. - c.400G>T r.(?) p.(Glu134*) Unknown - pathogenic g.86663398C>A g.86952356C>A - - FZD4_000059 - PubMed: Fei 2015 - - Germline yes 1/61 - 0 - DNA SEQ-NG peripheral blood - EVR;FEVR 3060001 PubMed: Fei 2015 - F no China Han 03y 0 yes - 1 Dimitra Ilektra Lerou
+?/. - c.456C>G r.(?) p.(Asn152Lys) Parent #1 - likely pathogenic (dominant) g.86663342G>C g.86952300G>C - - FZD4_000109 not in 362 control alleles PubMed: Seo 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease Pat6 PubMed: Seo 2015 - F - Korea - - 0 - - 1 -
+/. 2 c.469A>G r.(?) p.(Met157Val) Parent #1 - pathogenic g.86663329T>C g.86952287T>C - - FZD4_000016 0/400 control chromosomes Toomes 2004b - - Germline yes 1/40 - 0 - DNA SEQ - - EVR;FEVR - Toomes 2004b - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.470T>C r.(?) p.(Met157Thr) Unknown - pathogenic g.86663328A>G g.86952286A>G - - FZD4_000101 - PubMed: Musada 2016 - - Germline - - - 0 - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam6 PubMed: Musada 2016 see paper - - India - - 0 - - 1 -
+?/. - c.470T>C r.(?) p.(Met157Thr) Parent #1 - likely pathogenic (dominant) g.86663328A>G g.86952286A>G - - FZD4_000101 not in 368 control alleles PubMed: Seo 2015 - - Germline yes - - 0 - DNA SEQ - - retinal disease FamPat7-1 PubMed: Seo 2015 family, 2 affected F - Korea - - 0 - - 2 -
+?/. - c.470T>C r.(?) p.(Met157Thr) Parent #1 - likely pathogenic (dominant) g.86663328A>G g.86952286A>G - - FZD4_000101 not in 368 control alleles PubMed: Seo 2015 - - Germline yes - - 0 - DNA SEQ - - retinal disease FamPat7-2 PubMed: Seo 2015 relative F - Korea - - 0 - - 1 -
-/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - benign g.86663296G>A g.86952254G>A - - FZD4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - pathogenic g.86663296G>A g.86952254G>A P168S - FZD4_000042 - PubMed: MacDonald - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - EVR1 Patient 1 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? 0 - - 1 Dimitra Ilektra Lerou
-?/. - c.502C>T r.(?) p.(Pro168Ser) Parent #1 - likely benign g.86663296G>A g.86952254G>A - - FZD4_000042 117 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61735303 Germline - 117/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 117 Mohammed Faruq
-?/. - c.502C>T r.(?) p.(Pro168Ser) Both (homozygous) - likely benign g.86663296G>A g.86952254G>A - - FZD4_000042 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61735303 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+?/. - c.539_540del r.(?) p.(Glu180ValfsTer9) Parent #1 - likely pathogenic (dominant) g.86663260_86663261del g.86952218_86952219del 539_540delAG - FZD4_000108 - PubMed: Seo 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease Pat8 PubMed: Seo 2015 - M - Korea - - 0 - - 1 -
+/. 2 c.541T>C r.(?) p.(Cys181Arg) Parent #1 - pathogenic g.86663257A>G g.86952215A>G - - FZD4_000017 0/240 control chromosomes Omoto 2004 - - Germline yes 1/2 - 0 - DNA SEQ - - EVR;FEVR - Omoto 2004 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.541T>C r.(?) p.(Cys181Arg) Maternal (confirmed) - pathogenic g.86663257A>G g.86952215A>G p.C181R - FZD4_000017 - PubMed: Omoto 2004 - - Germline yes - - 0 - DNA SEQ-PB blood - EVR1 Patient 2 Omoto 2004 PubMed: Omoto 2004 2-generation family, affected mother/daughter F no Japan - 01y01m 0 - - 1 Dimitra Ilektra Lerou
+/. - c.542G>A r.(?) p.(Cys181Tyr) Paternal (confirmed) - pathogenic g.86663256C>T g.86952214C>T - - FZD4_000096 - PubMed: Iarossi 2017 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam2 PubMed: Iarossi 2017 2-generation family, 1 affected, carrier father M - Italy - - 0 - - 1 -
+/. 2 c.609G>C r.(?) p.(Lys203Asn) Parent #1 - pathogenic g.86663189C>G g.86952147C>G - - FZD4_000018 0/346 control chromosomes Ells 2010 - - Germline yes 1/104 - 0 - DNA SEQ - - ROP - Ells 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.610T>C r.(?) p.(Cys204Arg) Parent #1 - pathogenic g.86663186A>G - 916T>C (Cys202Arg - FZD4_000020 0/200 control chromosomes Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nallathambi 2006 - - Germline yes 1/53 families - 0 - DNA SEQ - - EVR;FEVR 17093393-Fam2 PubMed: Nallathambi 2006 4-generation family, 5 affecteds (5M) M no India - - 0 - - 5 Johan den Dunnen
+/. 2 c.611G>A r.(?) p.(Cys204Tyr) Parent #1 - pathogenic g.86663187C>T g.86952145C>T - - FZD4_000019 0/100 control chromosomes PubMed: Nikopoulos 2010 - - Germline - 1/8 - 0 - DNA SEQ - - EVR;FEVR - PubMed: Nikopoulos 2010 - - - - - - 0 - - 1 Frans Cremers
+/. - c.611G>A r.(?) p.(Cys204Tyr) Unknown - pathogenic g.86663187C>T g.86952145C>T - - FZD4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.611G>T r.(?) p.(Cys204Phe) Maternal (confirmed) - likely pathogenic g.86663187C>A g.86952145C>A - - FZD4_000095 - PubMed: Iarossi 2017 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam3 PubMed: Iarossi 2017 2-generation family, affected mother/son F;M - Italy - - 0 - - 2 -
-?/. - c.653_676dup r.(?) p.(Phe218_Val225dup) Parent #1 - likely benign g.86663124_86663147dup g.86952082_86952105dup 653_676dup24 - FZD4_000107 not in 360 control alleles PubMed: Seo 2015 - - Germline - 1/51 patients - 0 - DNA SEQ - - retinal disease patient PubMed: Seo 2015 FEVR patients - - Korea - - 0 - - 1 -
+?/. - c.664T>C r.(?) p.(Trp222Arg) Parent #1 - likely pathogenic (dominant) g.86663134A>G g.86952092A>G 664A>G - FZD4_000104 - PubMed: Weisschuh 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease BD121 PubMed: Weisschuh 2016 family - - Germany - - 0 - - 1 -
+/. 2 c.668T>A r.(?) p.(Met223Lys) Parent #1 - pathogenic g.86663130A>T g.86952088A>T - - FZD4_000021 0/80 control chromosomes Boonstra 2009 - - Germline yes 1/20 - 0 - DNA SEQ - - EVR;FEVR - Boonstra 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.676T>A r.(?) p.(Trp226Arg) Parent #1 - likely pathogenic (dominant) g.86663122A>T g.86952080A>T - - FZD4_000106 not in 358 control alleles PubMed: Seo 2015 - - Germline - - - 0 - DNA SEQ - - retinal disease Pat9 PubMed: Seo 2015 - F - Korea - - 0 - - 1 -
-?/. - c.729C>T r.(?) p.(Ile243=) Unknown - likely benign g.86663069G>A g.86952027G>A FZD4(NM_012193.3):c.729C>T (p.I243=) - FZD4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.749A>G r.(?) p.(Tyr250Cys) Unknown - pathogenic g.86663049T>C g.86952007T>C - - FZD4_000058 - PubMed: Yang et al 2018 - - Germline yes - - 0 - DNA SEQ-NG peripheral blood - EVR;FEVR Patient 1 Yang 2018 (son) PubMed: Yang 2018 2-generation family, affected father/son M no China - 07y 0 yes - 2 Dimitra Ilektra Lerou
+/. - c.749A>G r.(?) p.(Tyr250Cys) Unknown - pathogenic g.86663049T>C g.86952007T>C g.86952007T>C - FZD4_000058 - PubMed: Yang 2018 - - Germline yes - - 0 - DNA SEQ-NG peripheral blood - EVR;FEVR Patient 2 Yang 2018 (father) PubMed: Yang 2018 2-generation family, affected father/son M ? China - 32y 0 yes - 1 Dimitra Ilektra Lerou
?/. - c.757C>T r.(?) p.(Arg253Cys) Unknown - VUS g.86663041G>A g.86951999G>A - - FZD4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.766A>G r.(?) p.(Ile256Val) Parent #1 - pathogenic g.86663032T>C g.86951990T>C - - FZD4_000022 0/200 control chromosomes MacDonald 2005 - - Germline - 1/20 - 0 - DNA SEQ - - EVR;FEVR - MacDonald 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.766A>G r.(?) p.(Ile256Val) Unknown - VUS g.86663032T>C g.86951990T>C FZD4(NM_012193.3):c.766A>G (p.I256V) - FZD4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.766A>G r.(?) p.(Ile256Val) Unknown - likely pathogenic g.86663032T>C g.86951990T>C FZD4(NM_012193.3):c.766A>G (p.I256V) - FZD4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.766A>G r.(?) p.(Ile256Val) Unknown - pathogenic g.86663032T>C g.86951990T>C I256V - FZD4_000022 - PubMed: MacDonald 2005 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - ROP Patient 2 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? 0 - - 1 Dimitra Ilektra Lerou
+/. - c.766A>G r.(?) p.(Ile256Val) Parent #1 - pathogenic g.86663032T>C g.86951990T>C - - FZD4_000022 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894223 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.818T>G r.(?) p.(Leu273Arg) Unknown - likely pathogenic g.86662980A>C g.86951938A>C - - FZD4_000070 - PubMed: Bochiccio 2017 - - Unknown yes - - 0 - DNA ? - - EVR1 Patient 1 Bochicchio 2017 PubMed: Bochicchio 2017 - F no Italy Hispanic 28y 0 - - 1 Dimitra Ilektra Lerou
+/. 2 c.856G>T r.(?) p.(Glu286*) Parent #1 - pathogenic g.86662942C>A g.86951900C>A - - FZD4_000002 0/100 control chromosomes PubMed: Nikopoulos 2010 - - Germline yes 1/8 - 0 - DNA SEQ - - EVR;FEVR - PubMed: Nikopoulos 2010 - - - - - - 0 - - 1 Frans Cremers
+/. - c.856G>T r.(?) p.(Glu286Ter) Unknown - pathogenic g.86662942C>A g.86951900C>A - - FZD4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.905G>A r.(?) p.(Cys302Tyr) Paternal (confirmed) - pathogenic g.86662893C>T g.86951851C>T - - FZD4_000054 - PubMed: Tian 2019 - - Germline yes 1/621 - 0 - DNA SEQ-NG peripheral blood - EVR;FEVR FamC Patient 5 Tian 2019 (son) PubMed: Tian 2019 2-generation family, affetced father/son M ? China - 03y 0 - - 2 Dimitra Ilektra Lerou
+/. - c.905G>A r.(?) p.(Cys302Tyr) Unknown - pathogenic g.86662893C>T g.86951851C>T - - FZD4_000054 - PubMed: Tian et al 2019 - - Germline yes - - 0 - DNA SEQ-NG peripheral blood - EVR;FEVR FamC Patient 6 Tian 2019 (father) PubMed: Tian 2019 2-generation family,affected father/son M ? China - ? 0 - - 1 Dimitra Ilektra Lerou
-/. - c.945C>T r.(?) p.(Ala315=) Unknown - benign g.86662853G>A g.86951811G>A FZD4(NM_012193.3):c.945C>T (p.A315=) - FZD4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5) Parent #1 - pathogenic g.86662842del g.86951800del - - FZD4_000003 0/200 control chromosomes Toomes 2004b - - Germline - 1/40 - 0 - DNA SEQ - - EVR;FEVR - Toomes 2004b - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5) Unknown - pathogenic g.86662842del g.86951800del 957delG - FZD4_000003 - PubMed: Edwards 2012 - - Germline yes - - 0 - DNA ? buccal swabs/blood - EVR;FEVR Patient 1 Edwards 2012 PubMed: Edwards 2012 6-generation family, affected III:11, III:12, III:15, V:16 F no Australia English 75y 0 - - 4 Dimitra Ilektra Lerou
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5) Unknown - pathogenic g.86662842del g.86951800del 957delG - FZD4_000003 - PubMed: Edwards 2012 - - Germline yes - - 0 - DNA ? buccal swabs/blood - EVR;FEVR Patient 2 Edwards 2012 PubMed: Edwards 2012 6-generation family, affected III:11, III:12, III:15, V:16 M no Australia English 78y 0 - - 1 Dimitra Ilektra Lerou
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5) Unknown - pathogenic g.86662842del g.86951800del 957delG - FZD4_000003 - PubMed: Edwards 2012 - - Germline yes - - 0 - DNA ? buccal swabs/blood - EVR;FEVR Patient 3 Edwards 2012 PubMed: Edwards 2012 6-generation family, affected III:11, III:12, III:15, V:16 M no Australia English 62y 0 - - 1 Dimitra Ilektra Lerou
+/. 2 c.957del r.(?) p.(Trp319Cysfs*5) Paternal (inferred) - pathogenic g.86662842del g.86951800del 957delG - FZD4_000003 - PubMed: Edwards 2012 - - Germline yes - - 0 - DNA ? buccal swabs/blood - EVR;FEVR Patient 4 Edwards 2012 PubMed: Edwards 2012 6-generation family, affected III:11, III:12, III:15, V:16 M no Australia English 13y 0 - - 1 Dimitra Ilektra Lerou
+/. 2 c.957G>A r.(?) p.(Trp319*) Parent #1 - pathogenic g.86662841C>T g.86951799C>T - - FZD4_000004 0/80 control chromosomes Kondo 2003 - - Germline yes 5/20 - 0 - DNA SEQ - - EVR;FEVR - Kondo 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.957G>A r.(?) p.(Trp319*) Parent #1 - pathogenic g.86662841C>T g.86951799C>T - - FZD4_000004 0/300 control chromosomes Boonstra 2009 - - Germline - 1/24 - 0 - DNA SEQ - - EVR;FEVR - Boonstra 2009 - - - - - - 0 - - 1 Johan den Dunnen
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