Full data view for gene ABCA4


The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

Origin     

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Template     

Technique     

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+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A Arg2077Trp - ABCA4_000780 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004, PubMed: Genead 2009 - - Germline ? - - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004, PubMed: Genead 2009 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - pathogenic g.94467467G>A g.94001911G>A R2077W - ABCA4_000780 - PubMed: Rivera 2000 - - Germline yes - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A 6229C>T - ABCA4_000780 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A 6229C>T - ABCA4_000780 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 - PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A R2077W - ABCA4_000780 - PubMed: Cella 2009 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Cella 2009 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Schindler 2010 - - Germline ? - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Schindler 2010 - - Germline ? - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - pathogenic g.94467467G>A g.94001911G>A Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Schindler 2010 - - Germline ? - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Schindler 2010 - - Germline ? - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A R2077W - ABCA4_000780 - PubMed: Burke 2010 - - Germline ? - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A p.R2077W - ABCA4_000780 - PubMed: Burke 2014 - - Germline ? - - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - M ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A c.[5882G>A(;)6229C>T] - ABCA4_000780 - PubMed: Nõupuu 2014 - - Germline ? - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - VUS g.94467467G>A g.94001911G>A p.R2077W - ABCA4_000780 - PubMed: Duncker 2015 - - Germline - - - - - DNA PE, SEQ, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 45 c.6229C>T r.(6229c>u) p.(Arg2077Trp) Parent #1 ACMG pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - pathogenic g.94467467G>A g.94001911G>A - - ABCA4_000780 no variant found on 2nd chromosome PubMed: Garces 2018, Journal: Garces 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG Blood - STGD1 Patient 6 PubMed: Garces 2018, Journal: Garces 2018 - - - Canada - >55y - - - 1 Fabian Garces
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #1 - likely pathogenic g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. - c.6229C>T r.(?) p.(Arg2077Trp) Parent #1 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown - pathogenic (recessive) g.94467467G>A - 1:94467467G>A ENST00000370225.3:c.6229C>T (Arg2077Trp) - ABCA4_000780 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000144 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat70 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.6229C>T r.(?) p.(Arg2077Trp) Parent #1 - likely pathogenic g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 804 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 688 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 720 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 746 PubMed: Stone 2017 family, 3 affected M - (United States) - - - - - 3 LOVD
+?/. - c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 765 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A p.R2077W - ABCA4_000780 no variant 2nd chromosome PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P5 PubMed: Duncker 2013 - F no United States white - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Both (homozygous) - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T p.R2077W - ABCA4_000780 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA PE - APEX retinal disease D040 PubMed: Bertelsen 2014 - F ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A p.R2077W - ABCA4_000780 no variant 2nd chromosome PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 24 PubMed: Duncker 2014 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A p.[R2077W] - ABCA4_000780 no variant 2nd chromosome; no segregation analysis done PubMed: Sparrow 2015 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease 19 PubMed: Sparrow 2015 - F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T p.(R2077W) - ABCA4_000780 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 550 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #1 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T (p.Arg2077Trp) - ABCA4_000780 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3767 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T (p.Arg2077Trp) - ABCA4_000780 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3492 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T (p.Arg2077Trp) - ABCA4_000780 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4391 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #1 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 804 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A p.Arg2077Trp - ABCA4_000780 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 635 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Both (homozygous) - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229 C>T (hom) - ABCA4_000780 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 33 PubMed: Schroeder 2018 - M ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T, p.(Arg2077Trp)12 - ABCA4_000780 no variant 2nd chromosome PubMed: Garces 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 6 PubMed: Garces 2018 - - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229 C>T - ABCA4_000780 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 765 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229 C>T - ABCA4_000780 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 766 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Both (homozygous) - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T p.(Arg2077Trp) - ABCA4_000780 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1067 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A ENST00000370225.3:c.6229C>T p.Arg2077Trp 0/1 - ABCA4_000780 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease W000144 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T p.(Arg2077Trp) - ABCA4_000780 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 311 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T/p.R2077W - ABCA4_000780 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 720 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T/p.R2077W - ABCA4_000780 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 300 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T - ABCA4_000780 no variant 2nd chromosome PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 21 PubMed: Alabduljalil 2019 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A p.R2077W - ABCA4_000780 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 17 PubMed: Chen 2019 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T p.Arg2077Trp het - ABCA4_000780 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2011-181-003 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T p.Arg2077Trp Het - ABCA4_000780 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2016-323-007 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T, p.Arg2077Trp Heterozygous - ABCA4_000780 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3433-4186 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T, p.Arg2077Trp Heterozygous - ABCA4_000780 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 4002-4875 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T, p.Arg2077Trp heterozygous - ABCA4_000780 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 423-920 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #1 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A p.Arg2077Trp - ABCA4_000780 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 70 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A R2077W - ABCA4_000780 - PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 33 PubMed: Scholl 2001 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A R2077W - ABCA4_000780 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 18 PubMed: Burke 2011 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T (p.Arg2077Trp) - ABCA4_000780 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 39 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T (p.Arg2077Trp) - ABCA4_000780 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3723 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T (p.Arg2077Trp) - ABCA4_000780 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3259 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T (p.Arg2077Trp) - ABCA4_000780 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3583 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 688 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 720 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 746 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T Arg2077Trp CGG>TGG - ABCA4_000780 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 765 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T,p.Arg2077Trp - ABCA4_000780 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15046 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A het c.6229C>T p.Arg2077Trp - ABCA4_000780 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 97 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T p.(Arg2077Trp) - ABCA4_000780 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T/p.R2077W - ABCA4_000780 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 465 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A g.94001911G>A c.6229C>T/p.R2077W - ABCA4_000780 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 318 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic g.94467467G>A g.94001911G>A ABCA4 c.6229C>T, p.Arg2077Trp - ABCA4_000780 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000144 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A - c.6229C>T (p.R2077W)u - ABCA4_000780 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease G04-0860 PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively. F ? Germany - - - - - 1 LOVD
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. 45 c.6229C>T r.(?) p.(Arg2077Trp) Unknown - likely pathogenic (recessive) g.94467467G>A - c.6229C>T - ABCA4_000780 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66733 PubMed: Khan 2019PubMed: Khan 2020 - M - Germany - - - - - 1 LOVD
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown - pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA MCA, SEQ - - retinal disease L-0912 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown - pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0200 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Parent #2 - pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0524 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown - pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-2 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown - pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-251 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown ACMG pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 99438 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-770-1 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown ACMG pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 99438 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-770-2 PubMed: Weisschuh 2024 relative M - Germany - - - - - 1 Johan den Dunnen
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown ACMG pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-820 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.94467467G>A g.94001911G>A - - ABCA4_000780 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-824 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.6229C>T r.(?) p.(Arg2077Trp) Unknown ACMG pathogenic g.94467467G>A g.94001911G>A - - ABCA4_000780 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072021 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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