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.

44 entries on 1 page. Showing entries 1 - 44.
Legend   How to query  

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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T Val552Ile - ABCA4_000298 - PubMed: Michaelides 2007 - - Germline - 320, 121410, 2, 0.002636 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Michaelides 2007 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A - ABCA4_000298 - PubMed: Bauwens 2014 - - Germline - 320, 121410, 2, 0.002636 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Bauwens 2014 Simplex ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Maternal (confirmed) - VUS g.94528774C>T g.94063218C>T c.1654G>A/c.4771G>A - ABCA4_000298 - PubMed: Müller 2015 - - Germline ? - - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(1654g>a) p.(Val552Ile) Parent #1 ACMG VUS g.94528774C>T g.94063218C>T - - ABCA4_000298 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/? 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T - - ABCA4_000298 - PubMed: Garces 2018, Journal: Garces 2018 - - Germline - - - - - DNA SEQ-NG Blood - STGD1 Patient 4 PubMed: Garces 2018, Journal: Garces 2018 - - - Canada - >30y - - - 1 Fabian Garces
-?/. 12 c.1654G>A r.(?) p.(Val552Ile) Parent #1 - likely benign g.94528774C>T g.94063218C>T - - ABCA4_000298 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 12 c.1654G>A r.(?) p.(Val552Ile) Parent #1 - likely benign g.94528774C>T g.94063218C>T - - ABCA4_000298 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown - likely benign g.94528774C>T g.94063218C>T ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I) - ABCA4_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I) - ABCA4_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1654G>A r.(?) p.(Val552Ile) Parent #1 - likely pathogenic (recessive) g.94528774C>T g.94063218C>T - - ABCA4_000298 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
-?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - likely benign g.94528774C>T g.94063218C>T - - ABCA4_000298 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat9 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown - likely pathogenic g.94528774C>T g.94063218C>T - - ABCA4_000298 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 817 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T p.Val552Ile - ABCA4_000298 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 9 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A p.(V552I) - ABCA4_000298 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 409 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A Val552Ile GTA>ATA - ABCA4_000298 no variant 2nd chromosome; no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 817 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654 G>Ac.4363 T>C - ABCA4_000298 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 20 PubMed: Schroeder 2018 - F ? Sweden - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A, p.Val552Ile - ABCA4_000298 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15052 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654 G>A - ABCA4_000298 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 660 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A p.Val552Ile - ABCA4_000298 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1123 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A p.Val552Ile - ABCA4_000298 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1124 PubMed: Hull 2020 - - ? New Zealand India - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T het c.1654G>A p.Val552Ile - ABCA4_000298 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 46 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A p.Val552Ile Het - ABCA4_000298 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-165-318 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A p.Val552Ile Het - ABCA4_000298 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-206-493 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A p.Val552Ile Het - ABCA4_000298 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-071-196 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A, p.Val552Ile Heterozygous - ABCA4_000298 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 320, 121410, 2, 0.002636 - - - DNA SEQ - - retinal disease 3950-4814 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A (p.Val552Ile) - ABCA4_000298 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2933 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T p.Val552Ile - ABCA4_000298 - PubMed: Essilfie 2018 - - Unknown yes - - - - DNA ? - - retinal disease Unknown 636 PubMed: Essilfie 2018 - F ? United States white - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A, p.(Val552Ile)50 - ABCA4_000298 - PubMed: Garces 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 4 PubMed: Garces 2018 - - ? Canada - - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A p.Val552Ile Het - ABCA4_000298 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-030-073 Prevention Genetics - - ? - Palestine - - - - 1 Stéphanie Cornelis
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T c.1654G>A p.Val552Ile het - ABCA4_000298 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-151-192 Prevention Genetics - - ? - France;Norway - - - - 1 Stéphanie Cornelis
+?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - likely pathogenic g.94528774C>T - c.1654G>A - ABCA4_000298 - PubMed: Eisenberger-2013 - rs145525174 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Paternal (confirmed) ACMG VUS g.94528774C>T g.94063218C>T - - ABCA4_000298 - PubMed: Tracewska 2019 - - Germline yes 0,01 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 349 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
-?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown - likely benign g.94528774C>T - ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I) - ABCA4_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown - likely benign g.94528774C>T - ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I) - ABCA4_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown ACMG VUS g.94528774C>T g.94063218C>T ABCA4:NM_000350 c.G1654A, p.V552I - ABCA4_000298 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-442 PubMed: Rodriguez-Munoz 2020 family fRPN-197, proband F - Spain - - - - - 1 LOVD
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T - p.V552I - ABCA4_000298 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 - M - United States - - - - - 1 LOVD
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Parent #1 - VUS g.94528774C>T - c.1654G>A/p.(Val552Ile) //c.4771G>A/p.(Gly1591Arg) - ABCA4_000298 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 22 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
-?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - likely benign g.94528774C>T - c.1654G>A; p.V552I - ABCA4_000298 - PubMed: Termuhlen 2016 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Termuhlen 2016 - M - - - - - - - 1 LOVD
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T - c.1654G>A - ABCA4_000298 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66687 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
?/. 12 c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T - c.1654G>A - ABCA4_000298 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66789 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown ACMG benign (recessive) g.94528774C>T - - - ABCA4_000298 - PubMed: Bianco 2023 - - Germline - - - - - DNA SEQ-NG-I Peripheral Blood Sample - maculopathy VII.1 PubMed: Bianco 2023 - M no Italy Italian - - - - 2 Lorenzo Bianco
?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown ACMG likely benign (recessive) g.94528774C>T - - - ABCA4_000298 - PubMed: Bianco 2023 - - Germline - - - - - DNA SEQ-NG-I Peripheral Blood Sample - maculopathy VII.2 PubMed: Bianco 2023 - M no Italy Italian - - - - 1 Lorenzo Bianco
?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.94528774C>T g.94063218C>T - - ABCA4_000298 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-94 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown - likely benign g.94528774C>T - ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I) - ABCA4_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.