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.

34 entries on 1 page. Showing entries 1 - 34.
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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     

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Owner     
+?/. 13 c.1817G>A r.(?) p.(Gly606Asp) Parent #1 - likely pathogenic g.94528253C>T - 1817G>A (G606A) - ABCA4_000767 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
+?/. 13 c.1817G>A r.(?) p.(Gly606Asp) Unknown - likely pathogenic (recessive) g.94528253C>T g.94062697C>T 1817G?A G606A - ABCA4_000767 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 29 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1817G>A r.(?) p.(Gly606Asp) Unknown - likely pathogenic (recessive) g.94528253C>T g.94062697C>T c.1817G>A p.Gly606Asp het - ABCA4_000767 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-348-105 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1817G>A r.(?) p.(Gly606Asp) Parent #2 - likely pathogenic (recessive) g.94528253C>T g.94062697C>T c.1817 G>A - ABCA4_000767 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 1 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.1817G>A r.(?) p.(Gly606Asp) Unknown - VUS g.94528253C>T - ABCA4(NM_000350.3):c.1817G>A (p.G606D) - ABCA4_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1817G>A r.(?) p.(Gly606Asp) Parent #1 ACMG VUS g.94528253C>T g.94062697C>T - - ABCA4_000767 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat266 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. - c.1817G>A r.(?) p.(Gly606Asp) Unknown - VUS g.94528253C>T g.94062697C>T - - ABCA4_000767 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-54 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.1817G>A r.(?) p.(Gly606Asp) Unknown - VUS g.94528253C>T g.94062697C>T - - ABCA4_000767 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-329 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.1817G>A r.(?) p.(Gly606Asp) Unknown - VUS g.94528253C>T g.94062697C>T - - ABCA4_000767 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-241 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1817G>A r.(?) p.(Gly606Asp) Unknown ACMG likely pathogenic (recessive) g.94528253C>T g.94062697C>T - - ABCA4_000767 ACMG PP3, PM2, PM1, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-430 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. 13 c.1817G>A r.(?) p.(Gly606Asp) Unknown ACMG VUS g.94528253C>T g.94062697C>T - - ABCA4_000767 ACMG PM3, PP3_m; severity category uncertain Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - likely pathogenic g.94526289A>C g.94060733A>C c.1964T>G - ABCA4_000767 - PubMed: Zernant 2011 - - Germline ? 67, 103634, 0, 0.0006465 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - pathogenic g.94526289A>C g.94060733A>C c.1964T>G - ABCA4_000767 - PubMed: Duno 2012 - - Germline ? 67, 103634, 0, 0.0006465 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - likely pathogenic g.94526289A>C g.94060733A>C F655C - ABCA4_000767 - PubMed: Testa 2012 - - Germline ? 67, 103634, 0, 0.0006465 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(1964u>g) p.(Phe655Cys) Parent #1 ACMG VUS g.94526289A>C g.94060733A>C - - ABCA4_000767 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C - - ABCA4_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Parent #1 - likely benign g.94526289A>C g.94060733A>C - - ABCA4_000767 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Parent #1 - likely pathogenic g.94526289A>C - 1964T>G (L725I) - ABCA4_000767 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C 1964T?G L725I - ABCA4_000767 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 30 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C c.1964T>G p.(F655C) - ABCA4_000767 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 424 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C c.1964T>G,p.Phe655Cys - ABCA4_000767 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15070 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C c.1964T>G p.(Phe655Cys) - ABCA4_000767 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0094 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C c.1964T>G/p.F655C - ABCA4_000767 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 345 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C c.1964T>G/p.F655C - ABCA4_000767 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 223 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C F655C - ABCA4_000767 - PubMed: Olivo 2015 - - Unknown - - - - - DNA ? - - retinal disease Unknown 331 PubMed: Olivo 2015 - F ? Italy - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C p.Phe655Cys - ABCA4_000767 - PubMed: Melillo 2018 - - Unknown - - - - - DNA ? - - retinal disease 7 PubMed: Melillo 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C ; F655C - ABCA4_000767 - PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease T7 PubMed: Melillo 2020 - F ? Italy - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C c.1964T>G p.Phe655Cys het - ABCA4_000767 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-083-091 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C c.1964T>G, p.Phe655Cys Heterozygous - ABCA4_000767 - PubMed: Goetz 2020 - - Unknown - 67, 103634, 0, 0.0006465 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3630-5313 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1964T>G r.(?) p.(Phe655Cys) Unknown - pathogenic g.94526289A>C g.94060733A>C ABCA4 c.1964T>G, p.Phe655Cys - ABCA4_000767 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease SD2 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
?/. 14 c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C - c.1964T>G - ABCA4_000767 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70846 PubMed: Khan 2020 - F - New Zealand - - - - - 1 LOVD
?/. - c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C - - ABCA4_000767 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-152 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.1964T>G r.(?) p.(Phe655Cys) Unknown - VUS g.94526289A>C g.94060733A>C - - ABCA4_000767 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-443 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1964T>G r.(?) p.(Phe655Cys) Unknown ACMG pathogenic (recessive) g.94526289A>C g.94060733A>C - - ABCA4_000767 ACMG PP3, PM2, PM1, PP2, PP5_STRONG; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-833 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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