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.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

Consanguinity     

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Age at death     

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Panel size     

Owner     
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Parent #2 - likely pathogenic g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Parent #1 - likely pathogenic g.94471037T>C g.94005481T>C - - ABCA4_001062 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. - c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - VUS g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13012619 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - likely pathogenic (recessive) g.94471037T>C g.94005481T>C ABCA4 c.6107A>G p.(Tyr2036Cys) het - ABCA4_001062 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13012619 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - likely pathogenic (recessive) g.94471037T>C g.94005481T>C c.6107A>G (p.Tyr2036Cys) - ABCA4_001062 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3687 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Parent #2 - likely pathogenic (recessive) g.94471037T>C g.94005481T>C c.6107A>G p.(Tyr2036Cys) - ABCA4_001062 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67146 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Parent #2 - likely pathogenic (recessive) g.94471037T>C g.94005481T>C c.6107A>G - ABCA4_001062 - PubMed: Midgley 2020 - - Unknown - - - - - DNA PE, SSCA, SEQ - SSCP or APEX or SEQ retinal disease Unknown 1093 PubMed: Midgley 2020 - - ? South Africa - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - likely pathogenic (recessive) g.94471037T>C - c.6107A>G - ABCA4_001062 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70624 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - likely pathogenic (recessive) g.94471037T>C - c.6107A>G - ABCA4_001062 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70634 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - likely pathogenic (recessive) g.94471037T>C - c.6107A>G - ABCA4_001062 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70638 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - likely pathogenic (recessive) g.94471037T>C - c.6107A>G - ABCA4_001062 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70658 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - likely pathogenic (recessive) g.94471037T>C - c.6107A>G - ABCA4_001062 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67234 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. - c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - pathogenic (recessive) g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0219 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6107A>G r.(?) p.(Tyr2036Cys) Parent #2 - pathogenic (recessive) g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0345 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6107A>G r.(?) p.(Tyr2036Cys) Parent #2 - pathogenic (recessive) g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0364 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - pathogenic (recessive) g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0606 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6107A>G r.(?) p.(Tyr2036Cys) Unknown - pathogenic (recessive) g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0701 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6107A>G r.(?) p.(Tyr2036Cys) Parent #2 - pathogenic (recessive) g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0772 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.6107A>G r.(?) p.(Tyr2036Cys) Unknown ACMG likely pathogenic g.94471037T>C g.94005481T>C - - ABCA4_001062 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067234 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. 44 c.6107A>G r.(?) p.(Tyr2036Cys) Unknown ACMG pathogenic g.94471037T>C g.94005481T>C - - ABCA4_001062 ACMG PS4, PM3_V, PP3_m; severity category mild/moderate Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6107A>G r.(?) p.(Tyr2036Cys) Parent #2 - pathogenic g.94471037T>C g.94005481T>C - - ABCA4_001062 - PubMed: Midgley 2024 - rs878853398 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat38 PubMed: Midgley 2024 - F - South Africa white - - - - 1 Johan den Dunnen
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