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.

41 entries on 1 page. Showing entries 1 - 41.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 3i c.302+1G>A r.spl p.? Unknown - pathogenic g.94576993C>T g.94111437C>T - - ABCA4_000069 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
-?/. 3i c.302+1G>A r.spl p.? Paternal (confirmed) - likely benign g.94576993C>T g.94111437C>T exon 3 3'Jxn+1 - ABCA4_000069 - PubMed: Birch 2001 - - Germline - ExAC 4, 119416, 0, 0.0000335 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - F ? - ? - - - - 1 Stéphanie Cornelis
-?/. 3i c.302+1G>A r.spl p.? Unknown - likely benign g.94576993C>T g.94111437C>T C1222T - ABCA4_000069 - PubMed: Birch 2001 - - Germline - ExAC 4, 119416, 0, 0.0000335 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3i c.302+1G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.94576993C>T g.94111437C>T - - ABCA4_000069 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.302+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94576993C>T g.94111437C>T c.302+1G>A (p.?) - ABCA4_000069 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3775 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 3i c.302+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94576993C>T g.94111437C>T c.302+1G>A, splice sitealteration - ABCA4_000069 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12015 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 3i c.302+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94576993C>T g.94111437C>T c.302+1G>A Splicing het - ABCA4_000069 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-090-238 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3i c.302+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94576993C>T g.94111437C>T c.IVS3+1G>A, Heterozygous - ABCA4_000069 - PubMed: Goetz 2020 - - Unknown - 4, 119416, 0, 0.0000335 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2702-4273 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3i c.302+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94576993C>T g.94111437C>T c.IVS3+1G>A, Heterozygous - ABCA4_000069 - PubMed: Goetz 2020 - - Unknown - 4, 119416, 0, 0.0000335 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3930-4788 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3i c.302+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94576993C>T g.94111437C>T c.302+1G>A, Splicing Heterozygous - ABCA4_000069 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 4, 119416, 0, 0.0000335 - - - DNA SEQ - - retinal disease 6171-7586 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3i c.302+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94576993C>T g.94111437C>T c.302+1G>A - ABCA4_000069 - PubMed: Bernstein 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5 PubMed: Bernstein 2016 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 3i c.302+1G>A r.spl p.? Parent #2 ACMG pathogenic (recessive) g.94576993C>T g.94111437C>T - - ABCA4_000069 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat46 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic g.94564500G>C g.94098944G>C Ser206Arg - ABCA4_000069 - PubMed: Fishman 1999 - - Germline ? ExAC 162, 118200, 0, 0.001371 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 c.6320G>A, p.(Arg2107His) was also identified in this patient M ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - VUS g.94564500G>C g.94098944G>C 618C > G - ABCA4_000069 - PubMed: Webster 2001 - - Germline - ExAC 162, 118200, 0, 0.001371 - - - 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
?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - VUS g.94564500G>C g.94098944G>C 618C > G - ABCA4_000069 - PubMed: Webster 2001 - - Germline - ExAC 162, 118200, 0, 0.001371 - - - 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
?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - VUS g.94564500G>C g.94098944G>C 618C > G - ABCA4_000069 - PubMed: Webster 2001 - - Germline - ExAC 162, 118200, 0, 0.001371 - - - 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
+/. 6 c.618C>G r.(?) p.(Ser206Arg) Maternal (confirmed) - pathogenic g.94564500G>C g.94098944G>C C618G - ABCA4_000069 - PubMed: Birch 2001 - - Germline yes ExAC 162, 118200, 0, 0.001371 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - pathogenic g.94564500G>C g.94098944G>C T4169C - ABCA4_000069 - PubMed: Birch 2001 - - Germline ? ExAC 162, 118200, 0, 0.001371 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely benign g.94564500G>C g.94098944G>C Ser206Arg AGC>AGG - ABCA4_000069 - PubMed: Schindler 2010 - - Germline ? 162, 118200, 0, 0.001371 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 6 c.618C>G r.(618c>g) p.(Ser206Arg) Parent #1 ACMG VUS g.94564500G>C g.94098944G>C - - ABCA4_000069 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.618C>G r.(?) p.(Ser206Arg) Unknown - VUS g.94564500G>C g.94098944G>C ABCA4(NM_000350.2):c.618C>G (p.S206R) - ABCA4_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G, p.Ser206Arg - ABCA4_000069 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12050 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G/p.S206R - ABCA4_000069 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 171 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G p.Ser206Arg het - ABCA4_000069 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2012-313-009 Prevention Genetics - - ? - Nigeria - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G p.Ser206Arg Het - ABCA4_000069 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-116-095 Prevention Genetics - - ? - Jamaican, West Indian - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G p.Ser206Arg Het - ABCA4_000069 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-136-322 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G p.Ser206Arg Het - ABCA4_000069 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-136-324 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G, p.Ser206Arg Heterozygous - ABCA4_000069 - PubMed: Goetz 2020 - - Unknown - 162, 118200, 0, 0.001371 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3252-4019 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G, p.Ser206Arg Heterozygous - ABCA4_000069 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 162, 118200, 0, 0.001371 - - - DNA SEQ-NG-I - solid state SBS retinal disease 6159-7538 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G p.Ser206Arg Het - ABCA4_000069 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-286-119 Prevention Genetics - - ? - German, Jamaican, British - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G, p.Ser206Arg Heterozygous - ABCA4_000069 - PubMed: Goetz 2020 - - Unknown - 162, 118200, 0, 0.001371 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1166-2636 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G, p.Ser206Arg Heterozygous - ABCA4_000069 - PubMed: Goetz 2020 - - Unknown - 162, 118200, 0, 0.001371 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2013-3517 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G, p.Ser206Arg Heterozygous - ABCA4_000069 - PubMed: Goetz 2020 - - Unknown - 162, 118200, 0, 0.001371 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2098-2714 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C g.94098944G>C c.618C>G, p.Ser206Arg Heterozygous - ABCA4_000069 - PubMed: Goetz 2020 - - Unknown - 162, 118200, 0, 0.001371 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4634-5666 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic g.94564500G>C - c.618C>G - ABCA4_000069 - PubMed: Eisenberger-2013 - rs61748536 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F yes Congo - - - - - 1 LOVD
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C - c.618C>G - ABCA4_000069 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70683 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 6 c.618C>G r.(?) p.(Ser206Arg) Unknown - likely pathogenic (recessive) g.94564500G>C - c.618C>G - ABCA4_000069 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70686 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
?/. - c.618C>G r.(?) p.(Ser206Arg) Unknown ACMG VUS g.94564500G>C g.94098944G>C ABCA4 c.618C>G, p.(Ser206Arg) - ABCA4_000069 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 37_43 PubMed: Zhu 2022 family 37, individual 43 F - - - - - - - 1 LOVD
?/. - c.618C>G r.(?) p.(Ser206Arg) Unknown - VUS g.94564500G>C - ABCA4(NM_000350.2):c.618C>G (p.S206R) - ABCA4_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.618C>G r.(?) p.(Ser206Arg) Unknown - VUS g.94564500G>C g.94098944G>C - - ABCA4_000069 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-230 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.618C>G r.(?) p.(Ser206Arg) Unknown - VUS g.94564500G>C g.94098944G>C - - ABCA4_000069 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-269 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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