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.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
+?/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - likely pathogenic g.94466426G>A g.94000870G>A 6445C>T - ABCA4_000124 - PubMed: Booij 2011 - - Germline - ExAC 2, 121400, 0, 0.00001647 - - - DNA arraySEQ, PCR, SEQ - - STGD1 - PubMed: Booij 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - VUS g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Oishi 2014 - - Germline - ExAC 2, 121400, 0, 0.00001647 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
+?/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - likely pathogenic g.94466426G>A g.94000870G>A R2149X - ABCA4_000124 - PubMed: Lewis 1999 - - Germline ? ExAC 2, 121400, 0, 0.00001647 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Both (homozygous) - pathogenic g.94466426G>A g.94000870G>A c.6445C>T p.(R2149*) - ABCA4_000124 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline yes ExAC 2, 121400, 0, 0.00001647 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? yes France ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Both (homozygous) - pathogenic g.94466426G>A g.94000870G>A c.6445C>T p.(R2149*) - ABCA4_000124 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline yes ExAC 2, 121400, 0, 0.00001647 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - F yes France ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Both (homozygous) - pathogenic g.94466426G>A g.94000870G>A Arg2149stop - ABCA4_000124 - PubMed: Fukui 2006 - - Germline - ExAC 2, 121400, 0, 0.00001647 - - - DNA SEQ, ? - - ? - PubMed: Fukui 2006 - M yes Japan - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6445C>T r.(?) p.(Arg2149*) Maternal (confirmed) - likely pathogenic g.94466426G>A g.94000870G>A Arg2149stop - ABCA4_000124 - PubMed: Fukui 2006 - - Germline - ExAC 2, 121400, 0, 0.00001647 - - - DNA SEQ, ? - - ? - PubMed: Fukui 2006 2-generation family, 2 affected M yes Japan - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6445C>T r.(?) p.(Arg2149*) Maternal (confirmed) - likely pathogenic g.94466426G>A g.94000870G>A Arg2149stop - ABCA4_000124 - PubMed: Fukui 2006 - - Germline - ExAC 2, 121400, 0, 0.00001647 - - - DNA SEQ, ? - - ? - PubMed: Fukui 2006 2-generation family, 2 affected M yes Japan - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #1 - likely pathogenic g.94466426G>A g.94000870G>A c.6445C>T - ABCA4_000124 - PubMed: Zernant 2011, PubMed: Lee 2017, Journal: Lee 2017 - - Germline ? 2, 121400, 0, 0.00001647 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #1 - likely pathogenic g.94466426G>A g.94000870G>A c.6445C>T - ABCA4_000124 - PubMed: Zernant 2011, PubMed: Lee 2017, Journal: Lee 2017 - - Germline ? 2, 121400, 0, 0.00001647 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - likely pathogenic g.94466426G>A g.94000870G>A R2149X - ABCA4_000124 - PubMed: Testa 2012 - - Germline ? 2, 121400, 0, 0.00001647 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - likely benign g.94466426G>A g.94000870G>A R2149X - ABCA4_000124 - PubMed: Testa 2012 - - Germline yes 2, 121400, 0, 0.00001647 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic g.94466426G>A g.94000870G>A R2149X - ABCA4_000124 - PubMed: Testa 2012 - - Germline ? 2, 121400, 0, 0.00001647 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - VUS g.94466426G>A g.94000870G>A c.6445C>T - ABCA4_000124 - PubMed: Fujinami 2013 - - Germline - 2, 121400, 0, 0.00001647 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Both (homozygous) - pathogenic g.94466426G>A g.94000870G>A Arg2149X - ABCA4_000124 - PubMed: Battu 2015 - - Germline ? 2, 121400, 0, 0.00001647 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Battu 2015 - F yes India ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(6445c>u) p.(Arg2149Ter) Parent #1 ACMG pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Unknown - pathogenic g.94466426G>A g.94000870G>A - - ABCA4_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61750654 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #2 - VUS g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P10 PubMed: Hu 2019 - F yes China Asian - - yes none 1 Fangyuan Hu
+?/. - c.6445C>T r.(?) p.(Arg2149*) Unknown - likely pathogenic g.94466426G>A - 1:94466426G>A ENST00000370225.3:c.6445C>T (Arg2149Ter) - ABCA4_000124 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008143 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.6445C>T r.(?) p.(Arg2149*) Parent #2 - likely pathogenic g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 664 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #1 - pathogenic g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD054 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. - c.6445C>T r.(?) p.(Arg2149Ter) Both (homozygous) - likely pathogenic g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Oishi 2016 - rs61750654 Germline - - - - - DNA SEQ-NG - gene panel retinal disease K1741 PubMed: Oishi 2016 - F - Japan - - - - - 1 LOVD
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Both (homozygous) - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T - ABCA4_000124 - PubMed: Oishi 2016 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease K1741 PubMed: Oishi 2016 - F no Japan - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C.T p.Arg2149Ter - ABCA4_000124 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P26 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T - ABCA4_000124 no variant 2nd chromosome PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1069 PubMed: Hu 2019 - - ? China China - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A ENST00000370225.3:c.6445C>T p.Arg2149Ter 0/1 - ABCA4_000124 no variant 2nd chromosome PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G008143 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T - ABCA4_000124 - PubMed: Bernardis 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease IRD054 PubMed: Bernardis 2016 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T p.(Arg2149*) - ABCA4_000124 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1257 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T, p.Arg2149* Heterozygous - ABCA4_000124 - PubMed: Goetz 2020 - - Unknown - 2, 121400, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2680-3350 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T, p.Arg2149Stop Heterozygous - ABCA4_000124 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 121400, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4654-5656 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A R2149X - ABCA4_000124 - PubMed: Olivo 2015 - - Unknown - - - - - DNA ? - - retinal disease Unknown 328 PubMed: Olivo 2015 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A R2149X - ABCA4_000124 - PubMed: Olivo 2015 - - Unknown - - - - - DNA ? - - retinal disease Unknown 335 PubMed: Olivo 2015 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #1 - pathogenic (recessive) g.94466426G>A g.94000870G>A p.[(G1961E;R2149*)] - ABCA4_000124 no variant 2nd chromosome PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 76840 PubMed: Lee 2017 Parent-child pair with 76839 F ? - India - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A p.[(G1961E;R2149*)] - ABCA4_000124 no variant 2nd chromosome PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 76839 PubMed: Lee 2017 Parent-child pair with 76840 M ? - India - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T (p.Arg2149*) - ABCA4_000124 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3376 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #1 - pathogenic (recessive) g.94466426G>A g.94000870G>A c.[5882G>A;6445C>T] (p.[Gly1961Glu;Arg2149*]) - ABCA4_000124 no variant 2nd chromosome PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3037 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #2 - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T Arg2149Stop CGA>TGA - ABCA4_000124 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 664 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A p.Arg2149X - ABCA4_000124 - PubMed: Melillo 2018PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease 4; T4 PubMed: Melillo 2018PubMed: Melillo 2020 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A p.Arg2149X - ABCA4_000124 - PubMed: Melillo 2018PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease 12; C1 PubMed: Melillo 2018PubMed: Melillo 2020 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T,p.Arg2149Ter - ABCA4_000124 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13093 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #2 - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T p.(Arg2149*) - ABCA4_000124 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC08723 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #2 - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T p.(Arg2149*) - ABCA4_000124 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC08724 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T - ABCA4_000124 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P10 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T, p.Arg2149Ter Heterozygous - ABCA4_000124 - PubMed: Goetz 2020 - - Unknown - 2, 121400, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4338-6175 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A c.6445C>T, p.Arg2149X heterozygous - ABCA4_000124 - PubMed: Goetz 2020 - - Unknown - 2, 121400, 0, 0.00001647 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 58-724 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic g.94466426G>A g.94000870G>A ABCA4 c.6445C>T, p.Arg2149Ter - ABCA4_000124 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008143 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Unknown ACMG pathogenic g.94466426G>A g.94000870G>A ABCA4 c.C6445T, p.R2149X - ABCA4_000124 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 96 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A - c.6445C>T - ABCA4_000124 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70586 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Unknown - pathogenic (recessive) g.94466426G>A - c.6445C>T - ABCA4_000124 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70947 PubMed: Khan 2020 - F - Australia - - - - - 1 LOVD
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Both (homozygous) - pathogenic (recessive) g.94466426G>A - c.6445C>T - ABCA4_000124 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71437 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Both (homozygous) - pathogenic (recessive) g.94466426G>A - c.6445C>T - ABCA4_000124 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71437 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Paternal (inferred) ACMG pathogenic (recessive) g.94466426G>A - - - ABCA4_000124 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#33 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Both (homozygous) ACMG pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat269 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #2 ACMG pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat106 PubMed: Corradi 2023, Journal: Corradi 2023 - - - - - - - - - 1 Zelia Corradi
+/. 47 c.6445C>T r.(?) p.(Arg2149*) Parent #2 ACMG pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat272 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0061 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Parent #2 - pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0150 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Parent #2 - pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0806 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA MCA, SEQ - - retinal disease L-0925 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Parent #2 - pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1018 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Parent #2 - pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1084 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-220 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Unknown - pathogenic (recessive) g.94466426G>A g.94000870G>A - - ABCA4_000124 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-331 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6445C>T r.(?) p.(Arg2149Ter) Unknown ACMG pathogenic g.94466426G>A g.94000870G>A - - ABCA4_000124 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 071927 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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