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.

635 entries on 7 pages. Showing entries 1 - 100.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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Methylation     

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Disease     

ID_report     

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+?/. 2 c.1498de1A r.(?) p.(Thr500Leufs*13) Unknown - likely pathogenic g.86662303del g.86951261del FZD4 c1498de1A, T500fsX512 - FZD4_000008 heterozygous PubMed: Toomes 2004 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 family c1498delA, individual 1 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1498delA, individual 1 (proband's father) - - - British - - - - 1 LOVD
+?/. 2 c.1498de1A r.(?) p.(Thr500Leufs*13) Unknown - likely pathogenic g.86662303del g.86951261del FZD4 c1498de1A, T500fsX512 - FZD4_000008 heterozygous PubMed: Toomes 2004 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 family c1498delA, individual 2 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1498delA, individual 1 (proband) M - - British - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
-?/. - c.-12C>A r.(?) p.(=) Unknown - likely benign g.86666139G>T g.86955097G>T FZD4(NM_012193.4):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) - - - - - DNA ? - - EVR1, SMA Patient 1 Mammo 2015 PubMed: Mammo 2015 - M no Taiwan - 00y08m - - - 1 Dimitra Ilektra Lerou
+?/. _1_2_ c.-313_*5467{0} r.0 p.0 Parent #1 - likely pathogenic (dominant) g.(?_86656717)_(86666440_?)del g.(?_86945675)_(86955398_?)del whole gene deletion - FZD4_000000 - PubMed: Seo 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat13 PubMed: Seo 2015 - M - Korea - - - - - 1 LOVD
+/. _1_2_ c.-313_*5467{0} r.0 p.0 Unknown - pathogenic g.(?_77962352)_(114014790_?)del g.(?_78251306)_(114144068_?)del - 46,XX,t(5;8)(p15.3;p23.1),der(11)t(11;16)(q23.3;q22.3)del(11)(q14.1q23.2)inv(11;16)(p15;q24),der(16)t(11;16)(q23.3;q22.3)del(16)(q22.3q23.1) FZD4_000166 hg17 35Mb interstitial deletion 11q14.1-q23.2 (77.64 to 113.52 Mb) and 1.14Mb deletion 16q22.3 (72.18 to 73.32 Mb) PubMed: Li 2006 - - De novo - - - - - DNA FISH, STR, arraySNP, arrayCGH, SEQ blood - ? ? PubMed: Li 2006 - F - - Southeast Asian 3y4m - - - 1 LOVD
+?/. 1 c.? r.(?) p.? Unknown - likely pathogenic g.? g.? Del/inser c.40 - FZD4_000000 described only as Del/ins c.40 - not possible to pinpoint the actual variant; heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 1 PubMed: Dailey 2015 - - - - - - - - - 1 LOVD
+/. - c.23del r.(?) p.(Pro8ArgfsTer53) Unknown - likely pathogenic (dominant) g.86666106del g.86955064del 23delC - FZD4_000191 - PubMed: Jimenez 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat3 PubMed: Jimenez 2022 - M - United States - - - - - 1 Johan den Dunnen
+/. - 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 - - - - 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 - ? - - - 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 - - - - 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 - ? - no - 1 Dimitra Ilektra Lerou
?/. - c.40_49del r.(?) p.(Pro14SerfsTer44) Maternal (confirmed) - VUS g.86666089_86666098del g.86955047_86955056del - - FZD4_000050 - PubMed: Li 2018 - - Germline no - - - - DNA SEQ-NG blood - retinal disease C160201C00901 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. 1 c.40_49del r.(?) p.(Pro14SerfsTer44) Paternal (confirmed) ACMG pathogenic g.86666089_86666098del g.86955047_86955056del FZD4 c.40_49del, p.P14fs - FZD4_000050 heterozygous PubMed: Li 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 8 PubMed: Li 2020 - M - - - - - - - 1 LOVD
+/. - c.40_49del r.(?) p.(Pro14Serfs*44) Parent #1 - pathogenic (dominant) g.86666089_86666098del g.86955047_86955056del 39-49delCCCGGGGGCG (P14fsX57) - FZD4_000050 - PubMed: Jia 2010 - - Germline yes - - - - DNA ? whole blood - EVR;FEVR Fam1 PubMed: Jia 2010 4-generation family, 6 affected (3F, 3M) father/paternal aunt/paternal uncle, cousins (2) and siblings (2) F no China - - - - - 6 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.48C>T r.(?) p.(Gly16=) Unknown - benign g.86666080G>A g.86955038G>A FZD4(NM_012193.4):c.48C>T (p.G16=) - FZD4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.51_52insCCGGGGGCGC r.(?) p.(Gly18Profs*115) Unknown - pathogenic g.86666077_86666078insCGCCCCCGGG g.86955035_86955036insCGCCCCCGGG c.51_52insCCGGGGGCGC, p.(Gly18Profs*115) - FZD4_000157 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14064 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+/. - c.65G>A r.(?) p.(Gly22Glu) Unknown - pathogenic g.86666063C>T g.86955021C>T p. G22E - FZD4_000082 - PubMed: Jia 2010 - - De novo yes - - - - DNA ? whole blood - EVR;FEVR Fam2 PubMed: Jia 2010 3-generation family, affected only the proband F - China - 00y08m - - - 1 Dimitra Ilektra Lerou
-/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - benign g.86666031G>A g.86954989G>A - - FZD4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - - DNA SEQ-NG blood - EVR1 Patient 1 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? - - - 1 Dimitra Ilektra Lerou
+/. - c.97C>T r.(?) p.(Pro33Ser) Paternal (confirmed) - pathogenic (dominant) g.86666031G>A g.86954989G>A - - FZD4_000033 - PubMed: Nallathambi 2006 - - Germline yes - - - - DNA ? blood - EVR;FEVR Fam1PatIV3(Pat16) PubMed: Nallathambi 2006 4-generation family, affected father/son M yes India - 18y - - - 2 Dimitra Ilektra Lerou
+/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - pathogenic (dominant) g.86666031G>A g.86954989G>A - - FZD4_000033 - PubMed: Nallathambi 2006 - - Germline/De novo (untested) yes - - - - DNA ? blood - EVR;FEVR Fam1PatIII6(Pat26) PubMed: Nallathambi 2006 father M no India - 46y - - - 1 Dimitra Ilektra Lerou
+?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 5 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Paternal (confirmed) - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - EVR1 6 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - EVR1 6-2 PubMed: Drenser 2009 father of 6 (mentioned in the paper, no numbering) M - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Paternal (confirmed) - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - EVR1 7 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - EVR1 7-2 PubMed: Drenser 2009 father of 7 (mentioned in the paper, no numbering) M - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 8 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 9 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Maternal (confirmed) - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 10 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Maternal (confirmed) - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 10-2 PubMed: Drenser 2009 twin of 10 (mentioned in the paper, no numbering) - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Maternal (confirmed) - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 10-3 PubMed: Drenser 2009 mother of 10 and 10-2 (mentioned in the paper, no numbering) F - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 11 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Maternal (confirmed) - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 11-2 PubMed: Drenser 2009 mother of 11 (mentioned in the paper, no numbering) F - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - ROP 12 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely pathogenic g.86666031G>A g.86954989G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000033 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - ROP 13 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 19 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 20 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 21 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 22 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 23 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 24 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 25 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 26 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 27 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 28 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 29 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 30 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 31 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 32 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 33 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 34 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 35 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 36 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 37 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 38 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ND 39 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 1 c.97C>T r.(?) p.(Pro33Ser) Unknown - association g.86666031G>A g.86954989G>A FZD4 c.97C>T, P33S - FZD4_000033 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 40 PubMed: Dailey 2015 20 families, 24 members: mutation combination found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
+/. 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 - - - DNA SEQ - - EVR;FEVR - Toomes 2004b - - - - - - - - - 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 - - - - DNA SEQ-NG-I buccal swabs/blood - EVR1 Patient 11 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 08y - - - 1 Dimitra Ilektra Lerou
+?/. 1 c.107G>A r.(?) p.(Gly36Asp) Unknown - likely pathogenic g.86666021C>T g.86954979C>T FZD4 107G?>?A, Gly36Asp - FZD4_000011 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. 1 c.107G>A r.(?) p.(Gly36Asp) Unknown - likely pathogenic g.86666021C>T g.86954979C>T FZD4 c107G>A, G36D - FZD4_000011 heterozygous PubMed: Toomes 2004 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 isolated G36D patient PubMed: Toomes 2004 family numbers and patient numbers unavailable; isolated G36D patient - - - - - - - - 1 LOVD
+/. 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 - - - DNA SEQ - - EVR;FEVR - PubMed: Nikopoulos 2010 - - - - - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118G>C r.(?) p.(Glu40Gln) Unknown - VUS g.86666010C>G g.86954968C>G - - FZD4_000012 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71133 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+/. - c.118G>T r.(?) p.(Glu40Ter) Unknown - pathogenic g.86666010C>A g.86954968C>A - - FZD4_000115 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1076003 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+?/. - c.118G>T r.(?) p.(Glu40*) Unknown - likely pathogenic g.86666010C>A g.86954968C>A 118G>T, Glu40X - FZD4_000115 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 446 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. - c.124G>T r.(?) p.(Glu42Ter) Unknown - pathogenic g.86666004C>A g.86954962C>A - - FZD4_000114 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 2679002 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+/. 1 c.133T>A r.(?) p.(Cys45Ser) Maternal (confirmed) - pathogenic g.86665995A>T g.86954953A>T C45S - FZD4_000076 - PubMed: Tang 2015 - - Germline yes - - - - 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 - - - 1 Dimitra Ilektra Lerou
+?/. - c.133T>A r.(?) p.(Cys45Ser) Unknown - likely pathogenic g.86665995A>T g.86954953A>T 133T>A, Cys45Ser - FZD4_000076 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 43 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. 1 c.133T>C r.(?) p.(Cys45Arg) Paternal (confirmed) - pathogenic g.86665995A>G g.86954953A>G C45R - FZD4_000075 - PubMed: Tang 2015 - - Germline yes - - - - 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 - - - 1 Dimitra Ilektra Lerou
+?/. - c.133T>C r.(?) p.(Cys45Arg) Unknown - likely pathogenic g.86665995A>G g.86954953A>G 133T>C, Cys45Arg - FZD4_000075 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 26 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. 1 c.134G>A r.(?) p.(Cys45Tyr) Unknown - pathogenic g.86665994C>T g.86954952C>T C45Y - FZD4_000074 - PubMed: Tang 2015 - - Germline yes - - - - 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 - - - 1 Dimitra Ilektra Lerou
+/. - c.134G>A r.(?) p.(Cys45Tyr) Unknown - pathogenic g.86665994C>T g.86954952C>T - - FZD4_000074 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1328003 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+?/. 1 c.134G>A r.(?) p.(Cys45Tyr) Unknown - likely pathogenic g.86665994C>T g.86954952C>T FZD4 134G?>?A, Cys45Tyr - FZD4_000074 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.134G>A r.(?) p.(Cys45Tyr) Unknown - likely pathogenic g.86665994C>T g.86954952C>T c.134C>T, p.(Cys45Tyr) - FZD4_000074 error in annotation: NM_012193.3(FZD4):c.134C>T instead of G>A, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13210 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.134G>A r.(?) p.(Cys45Tyr) Unknown - likely pathogenic g.86665994C>T g.86954952C>T 134G>A, Cys45Tyr - FZD4_000074 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 29 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. 1 c.134G>A r.(?) p.(Cys45Tyr) Unknown - pathogenic g.86665994C>T g.86954952C>T FZD4 444G->A (C45Y) - FZD4_000074 obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Zhang 2010 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease FamA_II:1 PubMed: Zhang 2010 3-generation family, 4 affected (F, 3M) M - - - - - - - 4 LOVD
+/. 1 c.134G>A r.(?) p.(Cys45Tyr) Unknown - pathogenic g.86665994C>T g.86954952C>T FZD4 444G->A (C45Y) - FZD4_000074 obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Zhang 2010 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease FamA_II:3 PubMed: Zhang 2010 sister F - - - - - - - 1 LOVD
+/. 1 c.134G>A r.(?) p.(Cys45Tyr) Paternal (confirmed) - pathogenic g.86665994C>T g.86954952C>T FZD4 444G->A (C45Y) - FZD4_000074 obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Zhang 2010 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease FamA_III:1 PubMed: Zhang 2010 son M - - - - - - - 1 LOVD
+/. 1 c.134G>A r.(?) p.(Cys45Tyr) Maternal (confirmed) - pathogenic g.86665994C>T g.86954952C>T FZD4 444G->A (C45Y) - FZD4_000074 obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Zhang 2010 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease FamA_III:3 PubMed: Zhang 2010 nephew M - - - - - - - 1 LOVD
?/. - c.134G>C r.(?) p.(Cys45Ser) Paternal (confirmed) - VUS g.86665994C>G g.86954952C>G - - FZD4_000143 - PubMed: Li 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease C160926C00701 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+?/. 1 c.141dup r.(?) p.(Ile48Hisfs*82) Unknown - likely pathogenic g.86665990dup g.86954948dup FZD4 141dup, Ile48fs - FZD4_000156 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+/. - c.142dup r.(?) p.(Ile48Asnfs*82) Unknown - pathogenic g.86665986dup g.86954944dup c.142dup, p.(Ile48Asnfs*82) - FZD4_000155 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14630 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. 1 c.151T>A r.(?) p.(Ser51Thr) Unknown - likely pathogenic g.86665977A>T g.86954935A>T FZD4 c.151T>A, S51T - FZD4_000184 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 3 PubMed: Dailey 2015 - - - - - - - - - 1 LOVD
+/. - c.158del r.(?) p.(Cys53SerfsTer8) Maternal (confirmed) - pathogenic g.86665970del g.86954928del - - FZD4_000142 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C150713C02201 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. 1 c.158G>C r.(?) p.(Cys53Ser) Unknown - pathogenic g.86665970C>G g.86954928C>G C53S - FZD4_000073 - PubMed: Tang 2016 - - Germline yes - - - - 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 - - - 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 - - - - - DNA SEQ - - retinal disease Pat1 PubMed: Seo 2015 - M - Korea - - - - - 1 LOVD
+?/. - c.160C>T r.(?) p.(Gln54*) Unknown ACMG pathogenic g.86665968G>A - - - FZD4_000110 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - EVR;FEVR IR_GH_0147 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 1 c.169G>T r.(?) p.(Gly57Cys) Unknown - likely pathogenic g.86665959C>A g.86954917C>A FZD4 c.169G>T, G57C - FZD4_000183 heterozygous PubMed: Dailey 2015 - - Germline yes - - - - DNA SEQ blood - EVR1 4-1 PubMed: Dailey 2015 - - - - - - - - - 1 LOVD
+?/. 1 c.169G>T r.(?) p.(Gly57Cys) Unknown - likely pathogenic g.86665959C>A g.86954917C>A FZD4 c.169G>T, G57C - FZD4_000183 heterozygous PubMed: Dailey 2015 - - Germline yes - - - - DNA SEQ blood - EVR1 4-2 PubMed: Dailey 2015 - - - - - - - - - 1 LOVD
+/. 1 c.173A>G r.(?) p.(Tyr58Cys) Unknown - pathogenic g.86665955T>C g.86954913T>C FZD4 479A->G (Y58C) - FZD4_000182 obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Zhang 2010 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease FamB_I:1 PubMed: Zhang 2010 3-generation family, 5 affectd (2F, 3M) M - - - - - - - 5 LOVD
+/. 1 c.173A>G r.(?) p.(Tyr58Cys) Paternal (confirmed) - pathogenic g.86665955T>C g.86954913T>C FZD4 479A->G (Y58C) - FZD4_000182 obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Zhang 2010 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease FamB_II:1 PubMed: Zhang 2010 daughter F - - - - - - - 1 LOVD
+/. 1 c.173A>G r.(?) p.(Tyr58Cys) Paternal (confirmed) - pathogenic g.86665955T>C g.86954913T>C FZD4 479A->G (Y58C) - FZD4_000182 obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Zhang 2010 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease FamB_II:2 PubMed: Zhang 2010 daughter F - - - - - - - 1 LOVD
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