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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DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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ID_report     

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?/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - VUS g.94463488G>A g.93997932G>A 6658C>T - ABCA4_000802 - PubMed: Maugeri 2000 - - Germline - ExAC 6, 121316, 0, 0.00004946 - - - DNA SSCA, SEQ - - CORD - PubMed: Maugeri 2000 - ? ? Netherlands;Germany ? - - - - 1 Stéphanie Cornelis
?/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - VUS g.94463488G>A g.93997932G>A c.6658C>T, p.Gln2220* - ABCA4_000802 - PubMed: Roberts 2012 - - Germline - 6, 121316, 0, 0.00004946 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A g.93997932G>A c.6658C>T - ABCA4_000802 - PubMed: Fujinami 2013 - - Germline ? 6, 121316, 0, 0.00004946 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - South Asian - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A g.93997932G>A c.6658C>T - ABCA4_000802 - PubMed: Fujinami 2013 - - Germline ? 6, 121316, 0, 0.00004946 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - South Asian - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A g.93997932G>A c.6658C>T - ABCA4_000802 - PubMed: Fujinami 2013 - - Germline ? 6, 121316, 0, 0.00004946 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - South Asian - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A g.93997932G>A c.6658C>T - ABCA4_000802 - PubMed: Fujinami 2013 - - Germline ? 6, 121316, 0, 0.00004946 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - South Asian - - - - 1 Stéphanie Cornelis
+?/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - likely pathogenic g.94463488G>A g.93997932G>A c.6658C>T, p.Gln2220* - ABCA4_000802 - PubMed: Fujinami 2013 - - Germline ? 6, 121316, 0, 0.00004946 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic g.94463488G>A g.93997932G>A p.Q2220* - ABCA4_000802 - PubMed: Duncker 2015 - - Germline ? 6, 121316, 0, 0.00004946 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - Indian - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(6658c>u) p.(Gln2220Ter) Parent #1 ACMG pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6658C>T r.(?) p.(Gln2220*) Parent #2 - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian - - - - 29 Jana Zernant
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic g.94463488G>A g.93997932G>A - - ABCA4_000802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Parent #1 - pathogenic g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. - c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - likely pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 homozygous patients - - Norway - - - - - 2 Global Variome, with Curator vacancy
+/. - c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A - 1:94463488G>A ENST00000370225.3:c.6658C>T (Gln2220Ter) - ABCA4_000802 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240019 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A - 1:94463488G>A ENST00000370225.3:c.6658C>T (Gln2220Ter) - ABCA4_000802 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007710 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A - 1:94463488G>A ENST00000370225.3:c.6658C>T (Gln2220Ter) - ABCA4_000802 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000187 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - likely pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15018483 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - likely pathogenic g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13013461 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.6658C>T r.(?) p.(Gln2220*) Unknown - likely pathogenic g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 990697 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 15503 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 16746,1 PubMed: Fakin 2016 sibling of 16746.2 and 16746.3 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 16746,2 PubMed: Fakin 2016 sibling of 16746.1 and 16746.3 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 16746,3 PubMed: Fakin 2016 sibling of 16746.1 and 16746.2 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20300,1 PubMed: Fakin 2016 sibling of 20300.2 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20300,2 PubMed: Fakin 2016 sibling of 20300.1 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20477 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658C>T p.(Q2220*) - ABCA4_000802 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 565 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A ABCA4 c.6658C>T, p.(Gln2220*) - ABCA4_000802 - PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15018483 PubMed: Taylor 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A Het NM_000350.2: c.6658C>T; - ABCA4_000802 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 35 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658C>T p.(Gln2220*) - ABCA4_000802 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66675 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T - ABCA4_000802 - PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 647 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T - ABCA4_000802 - PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 649 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658C>T (p.Gln2220*) - ABCA4_000802 - PubMed: Khan 2013 - - Unknown yes - - - - DNA SEQ - - retinal disease RP03 PubMed: Khan 2013 5 more family members affected, same mutations M yes Pakistan Pakistan - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.C6658T Q2220Ter - ABCA4_000802 - PubMed: Raj 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 17 PubMed: Raj 2020 - - yes India India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka) - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A c.C6658T Q2220Ter - ABCA4_000802 - PubMed: Raj 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 18 PubMed: Raj 2020 - - yes India India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka) - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A ABCA4 c.6658C>T p.(Gln2220Ter) hom - ABCA4_000802 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13013461 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A ENST00000370225.3:c.6658C>T p.Gln2220Ter 1/1 - ABCA4_000802 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease B240019 PubMed: Carss 2017 - M ? England - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A ENST00000370225.3:c.6658C>T p.Gln2220Ter 1/1 - ABCA4_000802 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007710 PubMed: Carss 2017 - M ? England Asia-S - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A ENST00000370225.3:c.6658C>T p.Gln2220Ter 1/1 - ABCA4_000802 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease W000187 PubMed: Carss 2017 - M ? England Asia-S - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20507 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 21181 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 21688 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658 C>T p.Q2220X - ABCA4_000802 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 20507 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Parent #2 - pathogenic (recessive) g.94463488G>A g.93997932G>A p.(Q2220*) - ABCA4_000802 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90143 PubMed: Lee 2017 - M ? - India - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A ABCA4 c.6658C>T, p.(Gln2220*) - ABCA4_000802 - PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15018483 PubMed: Taylor 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Parent #2 - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658C>T (p.Gln2220*) - ABCA4_000802 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3656 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A p.Q2220* - ABCA4_000802 - PubMed: Ciccone 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Ciccone 2018 patient possibly reported by Zernant et al., 2011 and 2014 M ? United States India - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Parent #2 - pathogenic (recessive) g.94463488G>A g.93997932G>A c.C6658T Q2220Ter - ABCA4_000802 - PubMed: Raj 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 20 PubMed: Raj 2020 - - ? India India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka) - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658C>T; p.Gln2220* - ABCA4_000802 - PubMed: van Huet 2015 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 1151 PubMed: van Huet 2015 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A ABCA4 c.6658C>T p.(Gln2220Ter) het - ABCA4_000802 - PubMed: Ellingford 2016 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 990697 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658C>T p.(Gln2220*) - ABCA4_000802 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 18 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A p.Q2220* - ABCA4_000802 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 33 PubMed: Chen 2019 - M ? - India - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658C>T, p.Gln2220* Heterozygous - ABCA4_000802 - PubMed: Goetz 2020 - - Unknown - 6, 121316, 0, 0.00004946 - - - DNA SEQ - - retinal disease 1689-2279 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A c.6658C>T, p.Gln2220* Heterozygous - ABCA4_000802 - PubMed: Goetz 2020 - - Unknown - 6, 121316, 0, 0.00004946 - - - DNA SEQ - - retinal disease 730-1250 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A - c.6658C>T - ABCA4_000802 - PubMed: Khan-2013 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Khan-2013 - - yes Pakistan Pakistani - - - - 1 LOVD
+/. - c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A - Q2220X/Q2220X - ABCA4_000802 - PubMed: Shanks 2013 - - Germline - - - - - DNA SEQ-NG, PCR - - retinal disease - PubMed: Shanks-2013 2 affected male cousins. Parents heterozygous for mutation - yes - - - - - - 1 LOVD
+/. - c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A g.93997932G>A ABCA4 c.6658C>T, p.Gln2220Ter - ABCA4_000802 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007710 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.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A g.93997932G>A ABCA4 c.6658C>T, p.Gln2220Ter - ABCA4_000802 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000187 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - likely pathogenic g.94463488G>A - c.6658C>T - ABCA4_000802 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - likely pathogenic g.94463488G>A - c.6658C>T - ABCA4_000802 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A - c.6658C>T, p.Gln2220* - ABCA4_000802 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 60 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A - c.6658C>T - ABCA4_000802 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70526 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A - c.6658C>T - ABCA4_000802 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70579 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic (recessive) g.94463488G>A - c.6658C>T - ABCA4_000802 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70579 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Unknown - pathogenic (recessive) g.94463488G>A - c.6658C>T - ABCA4_000802 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70653 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. - c.6658C>T r.(?) p.(Gln2220*) Unknown ACMG pathogenic g.94463488G>A g.93997932G>A ABCA4 c.6658C>T, p.Gln2220Ter - ABCA4_000802 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 52_61 PubMed: Zhu 2022 family 52, individual 61 M - - - - - - - 1 LOVD
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Both (homozygous) - pathogenic g.94463488G>A - c.6658C>T - ABCA4_000802 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 48 c.6658C>T r.(?) p.(Gln2220*) Parent #1 ACMG pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat189 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0440 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0766 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0010 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0335 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0440 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0747 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-86 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-115 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-188 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-195 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-234 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-72 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-234 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-244 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-81 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-110 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-430 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Both (homozygous) - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-115 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-430 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-6 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-95 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-116 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-155 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-250 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-219 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-348 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-296 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-413 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6658C>T r.(?) p.(Gln2220Ter) Unknown - pathogenic (recessive) g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-341 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 48 c.6658C>T r.(?) p.(Gln2220Ter) Parent #2 ACMG pathogenic g.94463488G>A g.93997932G>A - - ABCA4_000802 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074090 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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