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.

96 entries on 1 page. Showing entries 1 - 96.
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Effect     

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AscendingDNA change (cDNA)     

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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     

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-?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely benign g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Alapati 2014 - - Germline - ExAC 3, 121394, 0, 0.00002471 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - VUS g.94506923C>T g.94041367C>T GAG > AAG - ABCA4_000012 - PubMed: Briggs 2001 - - Germline - ExAC 3, 121394, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - VUS g.94506923C>T g.94041367C>T GAG > AAG - ABCA4_000012 - PubMed: Briggs 2001 - - Germline - ExAC 3, 121394, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T E1122K - ABCA4_000012 - PubMed: Lewis 1999 - - Germline ? ExAC 3, 121394, 0, 0.00002471 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 4 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - VUS g.94506923C>T g.94041367C>T 3364G>A - ABCA4_000012 - PubMed: Webster 2001 - - Germline - ExAC 3, 121394, 0, 0.00002471 - - - 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
?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - VUS g.94506923C>T g.94041367C>T 3364G>A - ABCA4_000012 - PubMed: Klevering 2002 - - Germline - ExAC 3, 121394, 0, 0.00002471 - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - F ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T (3364G>A) - ABCA4_000012 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 3, 121394, 0, 0.00002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - M ? Spain - - - - - 1 Stéphanie Cornelis
?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - VUS g.94506923C>T g.94041367C>T 3364G>A - ABCA4_000012 - PubMed: Downes 2012 - - Germline - 3, 121394, 0, 0.00002471 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - VUS g.94506923C>T g.94041367C>T 3364G>A - ABCA4_000012 - PubMed: Downes 2012 - - Germline - 3, 121394, 0, 0.00002471 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T c.3364G>A - ABCA4_000012 - PubMed: Riveiro-Alvarez 2013 - - Germline - 3, 121394, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T c.3364G>A - ABCA4_000012 - PubMed: Riveiro-Alvarez 2013 - - Germline - 3, 121394, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys - ABCA4_000012 - PubMed: Fujinami 2013 - - Germline - 3, 121394, 0, 0.00002471 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T c.3364 G>A - ABCA4_000012 - PubMed: Zaneveld 2015 - - Germline ? 3, 121394, 0, 0.00002471 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T E1122K - ABCA4_000012 - PubMed: Cideciyan 2009 - - Germline - 3, 121394, 0, 0.00002471 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3364G>A r.(3364g>a) p.(Glu1122Lys) Parent #1 ACMG pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T - - ABCA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Paternal (confirmed) ACMG pathogenic g.94506923C>T - - - ABCA4_000012 - Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel STGD 2264 Zixi Sun 2020, submitted - M - China - - - - - 3 Zixi Sun
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T - 1:94506923C>T ENST00000370225.3:c.3364G>A (Glu1122Lys) - ABCA4_000012 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240094 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T - 1:94506923C>T ENST00000370225.3:c.3364G>A (Glu1122Lys) - ABCA4_000012 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004717 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - likely pathogenic g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 702 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - likely pathogenic g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 703 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.3364G>A r.(?) p.(Glu1122Lys) Parent #1 - likely pathogenic g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP-070 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Parent #1 - likely pathogenic (recessive) g.94506923C>T g.94041367C>T p.E1122K - ABCA4_000012 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10047 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Both (homozygous) - likely pathogenic (recessive) g.94506923C>T g.94041367C>T p.E1122K - ABCA4_000012 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10193 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T E1122K - ABCA4_000012 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0080 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Parent #1 - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.(Glu1122Lys) - ABCA4_000012 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 9 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A (p.Glu1122Lys) - ABCA4_000012 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3208 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.Glu1122Lys - ABCA4_000012 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease ABCA4-39A PubMed: Smaragda 2018 - F ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A,p.Glu1122Lys - ABCA4_000012 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14059 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A,p.Glu1122Lys - ABCA4_000012 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14118 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A,p.Glu1122Lys - ABCA4_000012 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16013 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A,p.Glu1122Lys - ABCA4_000012 no variant 2nd chromosome PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17048 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Parent #1 - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.[3364G>A] - ABCA4_000012 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P3G15 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A; - ABCA4_000012 - PubMed: Light 2017 - - Unknown - - - - - DNA ? - - retinal disease P14 PubMed: Light 2017 - M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.Glu1122Lys - ABCA4_000012 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1135 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Parent #1 - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.(Glu1122Lys) - ABCA4_000012 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0563 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T ENST00000370225.3:c.3364G>A p.Glu1122Lys 0/1 - ABCA4_000012 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease B240094 PubMed: Carss 2017 - F ? England - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T ENST00000370225.3:c.3364G>A p.Glu1122Lys 0/1 - ABCA4_000012 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G004717 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A,p.Glu1122Lys - ABCA4_000012 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease RP-070 PubMed: Huang 2017 - - ? China China - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.Glu1122Lys - ABCA4_000012 no variant 2nd chromosome PubMed: Gao 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1228 PubMed: Gao 2019 variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well. - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.Glu1122Lys het - ABCA4_000012 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2013-171-011 Prevention Genetics - - ? - Europe - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.Glu1122Lys het - ABCA4_000012 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2018-170-137 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.Glu1122Lys Het - ABCA4_000012 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-264-215 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 - PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1250-2691 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ - - retinal disease 2072-3584 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 - PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ - - retinal disease 2187-2811 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ - - retinal disease 233-1610 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ - - retinal disease 3596-5270 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 - PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ - - retinal disease 82-754 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - likely pathogenic (recessive) g.94506923C>T g.94041367C>T p.E1122K - ABCA4_000012 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10109 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T p.[Gly863Ala(;)Glu1122Lys(;)Arg2030*] - ABCA4_000012 - PubMed: Fujinami 2015 - - Unknown - - - - - DNA ? - - retinal disease 25 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A Glu1122Lys GAG>AAG - ABCA4_000012 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 702 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A Glu1122Lys GAG>AAG - ABCA4_000012 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 703 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A,p.Glu1122Lys - ABCA4_000012 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14020 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.(Glu1122Lys) - ABCA4_000012 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC01080 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G.A p.Glu1122Lys - ABCA4_000012 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P4 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G.A p.Glu1122Lys - ABCA4_000012 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P9 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A - ABCA4_000012 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A030 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.(G1122K) - ABCA4_000012 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 20522 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.(Glu1122Lys) - ABCA4_000012 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0373 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.(Glu1122Lys) - ABCA4_000012 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0906 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Paternal (confirmed) - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A p.(Glu1122Lys) - ABCA4_000012 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2264 PubMed: Sun 2020 son of 2264-1; this allele is inherited from her M ? China China - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 - PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ - - retinal disease 1386-1920 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 - PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3113-3843 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys Heterozygous - ABCA4_000012 - PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3927-4785 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T g.94041367C>T c.3364G>A, p.Glu1122Lys heterozygous - ABCA4_000012 - PubMed: Goetz 2020 - - Unknown - 3, 121394, 0, 0.00002471 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6450-875 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T - c.3364G>A - ABCA4_000012 - PubMed: Avela 2019 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic g.94506923C>T g.94041367C>T ABCA4 c.3364G>A, p.Glu1122Lys - ABCA4_000012 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G004717 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T - c.3364G>A, p.Glu1122Lys - ABCA4_000012 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 9 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.3364G>A r.(?) p.(Glu1122Lys) Parent #1 - likely pathogenic g.94506923C>T g.94041367C>T ABCA4 c.3364G>A , p.(Glu1122Lys) - ABCA4_000012 heterozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 25 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Parent #1 - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Both (homozygous) - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Groselj 2012 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T - c.3364G>A - ABCA4_000012 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70709;MD-0895 PubMed: Khan 2020PubMed: Del Pozo-Valero 2020 - M - Spain - - - - - 1 LOVD
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T - c.3364G>A - ABCA4_000012 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70618 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T - c.3364G>A - ABCA4_000012 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71005 PubMed: Khan 2020 - F - Spain - - - - - 1 LOVD
+?/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown - likely pathogenic (recessive) g.94506923C>T - c.3364G>A - ABCA4_000012 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71219 PubMed: Khan 2020 - F - United States - - - - - 1 LOVD
+/. 23 c.3364G>A r.(?) p.(Glu1122Lys) Unknown ACMG pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat95 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0678 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0306 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0762 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Parent #2 - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0893 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1048 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1088 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1095 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-67 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-127 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-245 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-266 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-276 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-40 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-163 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown - pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-240 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown ACMG pathogenic (recessive) g.94506923C>T g.94041367C>T - - ABCA4_000012 ACMG PP3, PM2, PM1, PP2, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-779 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.3364G>A r.(?) p.(Glu1122Lys) Unknown ACMG pathogenic g.94506923C>T g.94041367C>T - - ABCA4_000012 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 071005 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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