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.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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Age at death     

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?/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - likely pathogenic g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Maternal (confirmed) - pathogenic g.94466628G>A g.94001072G>A 6316C→T - ABCA4_000094 - PubMed: Yatsenko 2001 - - Germline - ExAC 14, 121222, 0, 0.0001155 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Maternal (confirmed) - pathogenic g.94466628G>A g.94001072G>A 6316C→T - ABCA4_000094 - PubMed: Yatsenko 2001 - - Germline - ExAC 14, 121222, 0, 0.0001155 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - VUS g.94466628G>A g.94001072G>A c.6316C>T - ABCA4_000094 - PubMed: Zernant 2011 - - Germline - 14, 121222, 0, 0.0001155 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic g.94466628G>A g.94001072G>A 6316C>T - ABCA4_000094 - PubMed: Downes 2012 - - Germline ? 14, 121222, 0, 0.0001155 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic g.94466628G>A g.94001072G>A 6316C>T - ABCA4_000094 - PubMed: Downes 2012 - - Germline ? 14, 121222, 0, 0.0001155 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic g.94466628G>A g.94001072G>A p.R2106C - ABCA4_000094 - PubMed: Duncker 2015 - - Germline ? 14, 121222, 0, 0.0001155 - - - DNA PE - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(6316c>u) p.(Arg2106Cys) Parent #1 ACMG pathogenic (recessive) g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic g.94466628G>A g.94001072G>A - - ABCA4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #1 - likely pathogenic g.94466628G>A g.94001072G>A - - ABCA4_000094 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #2 - likely pathogenic g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Both (homozygous) - pathogenic g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61750648 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
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Parent #1 - pathogenic g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Zolnikova 2017 - rs61750648 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P017 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T Arg2107Cys Heterozygous - ABCA4_000094 no variant 2nd chromosome PubMed: Zolnikova 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P017 PubMed: Zolnikova 2017 - M ? Russia Russia-Slavonia - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(R2106C) - ABCA4_000094 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 556 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T (p.Arg2106Cys) - ABCA4_000094 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Y415 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A p.R2106C - ABCA4_000094 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 16 PubMed: Paavo 2018 - - ? United States white - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Both (homozygous) - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(Arg2106Cys) - ABCA4_000094 - PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1245 PubMed: Koyanagi 2019 - - ? - Japan - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.Arg2106Cys het - ABCA4_000094 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-083-103 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T, p.Arg2106Cys Heterozygous - ABCA4_000094 - PubMed: Goetz 2020 - - Unknown - 14, 121222, 0, 0.0001155 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3650-5366 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T, p.Arg2106Cys Heterozygous - ABCA4_000094 - PubMed: Goetz 2020 - - Unknown - 14, 121222, 0, 0.0001155 - - - DNA SEQ - - retinal disease 6120-7620 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A p.R2106C - ABCA4_000094 - PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 16 PubMed: Duncker 2014 - M ? - Arab - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #2 - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(Arg2106Cys) - ABCA4_000094 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 46 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(Arg2106Cys) - ABCA4_000094 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease Radboudumc 9 PubMed: Lambertus 2017 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #2 - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T (p.Arg2106Cys) - ABCA4_000094 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3990 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T (p.Arg2106Cys) - ABCA4_000094 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3598 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T (p.Arg2106Cys) - ABCA4_000094 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3934 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #1 - pathogenic (recessive) g.94466628G>A g.94001072G>A Arg2106Cys] - ABCA4_000094 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam N II 1 PubMed: Salles 2017 Sibling of Fam N II 2 M no Brazil - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #1 - pathogenic (recessive) g.94466628G>A g.94001072G>A Arg2106Cys] - ABCA4_000094 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam N II 2 PubMed: Salles 2017 Sibling of Fam N II 1 F no Brazil - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A p.R2106C - ABCA4_000094 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 14 PubMed: Paavo 2018 - - ? United States African Arabian - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #1 - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(Arg2106Cys) - ABCA4_000094 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC07960 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #1 - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(Arg2106Cys) - ABCA4_000094 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC09601 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #1 - pathogenic (recessive) g.94466628G>A g.94001072G>A c.5282C>G c.6316C>T p.Pro1761Arg p.Arg2106Cys - ABCA4_000094 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 41 PubMed: Salles 2018 sibling of 49 F ? Brazil - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #1 - pathogenic (recessive) g.94466628G>A g.94001072G>A c.5282C>G c.6316C>T p.Pro1761Arg p.Arg2106Cys - ABCA4_000094 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 49 PubMed: Salles 2018 sibling of 41 M ? Brazil - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(Arg2106Cys) - ABCA4_000094 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 23 PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(Arg2106Cys) - ABCA4_000094 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67191 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #2 - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T p.(Arg2106Cys) - ABCA4_000094 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0885 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T, p.Arg2106Cys Heterozygous - ABCA4_000094 - PubMed: Goetz 2020 - - Unknown - 14, 121222, 0, 0.0001155 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2368-3002 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A c.6316C>T, p.Arg2106Cys Heterozygous - ABCA4_000094 - PubMed: Goetz 2020 - - Unknown - 14, 121222, 0, 0.0001155 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4271-6073 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A - c.6316C>T - ABCA4_000094 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67190 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A - - ABCA4_000094 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0801 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0468 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0731 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1057 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Unknown - pathogenic (recessive) g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-54 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 46 c.6316C>T r.(?) p.(Arg2106Cys) Parent #2 ACMG pathogenic g.94466628G>A g.94001072G>A - - ABCA4_000094 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073554 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.6316C>T r.(?) p.(Arg2106Cys) Unknown ACMG pathogenic g.94466628G>A g.94001072G>A - - ABCA4_000094 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067190 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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