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.

42 entries on 1 page. Showing entries 1 - 42.
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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+?/. 6 c.610G>A r.(?) p.(Ala204Thr) Parent #1 - likely pathogenic g.94564508C>T - 611G>A (A204T) - ABCA4_000355 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
+?/. 6 c.610G>A r.(?) p.(Ala204Thr) Unknown - likely pathogenic (recessive) g.94564508C>T g.94098952C>T 611G?A A204T - ABCA4_000355 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 25 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.610G>A r.(?) p.(Ala204Thr) Unknown ACMG VUS g.94564508C>T g.94098952C>T - - ABCA4_000355 ACMG PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.868C>T r.(?) p.(Arg290Trp) Paternal (inferred) - pathogenic g.94546265G>A g.94080709G>A c.868C>T - ABCA4_000355 - PubMed: Yzer 2007 - - Germline - 4, 120876, 0, 0.00003309 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yzer 2007 6-generation family, 4 affected F no - São Miguel - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T - ABCA4_000355 - PubMed: Maia-Lopes 2009 - - Germline - 4, 120876, 0, 0.00003309 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A R290W - ABCA4_000355 - PubMed: Maia-Lopes 2008 - - Germline - 4, 120876, 0, 0.00003309 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. F ? - ? - - - - 1 Stéphanie Cornelis
+/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - pathogenic g.94546265G>A g.94080709G>A c.868C>T - ABCA4_000355 - PubMed: Chacón-Camacho 2013 - - Germline - 4, 120876, 0, 0.00003309 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 8 c.868C>T r.(868c>u) p.(Arg290Trp) Parent #1 ACMG likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.868C>T r.(?) p.(Arg290Trp) Unknown - pathogenic g.94546265G>A g.94080709G>A - - ABCA4_000355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown ACMG likely pathogenic g.94546265G>A - - - ABCA4_000355 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 8 c.868C>T r.(?) p.(Arg290Trp) Parent #1 - likely pathogenic g.94546265G>A - 868C>T (R290W) - ABCA4_000355 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A 868C?T R290W - ABCA4_000355 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 26 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A p.R290W - ABCA4_000355 no variant 2nd chromosome PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P14 PubMed: Duncker 2013 - M no United States white - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T (p.Arg290Trp) - ABCA4_000355 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3813 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868 C>Tc.317 A>T - ABCA4_000355 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 8 PubMed: Schroeder 2018 - F ? Sweden - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T, p.Arg290Trp - ABCA4_000355 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13096 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T, p.Arg290Trp - ABCA4_000355 no variant 2nd chromosome PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18035 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T c.2690C>T p.Arg290Trp p.Thr897Ile - ABCA4_000355 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 27 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T, p.Arg290Trp Heterozygous - ABCA4_000355 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 4, 120876, 0, 0.00003309 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2994-3742 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T, p.Arg290Trp heterozygous - ABCA4_000355 - PubMed: Goetz 2020 - - Unknown - 4, 120876, 0, 0.00003309 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6411-545 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T, p.Arg290Trp heterozygous - ABCA4_000355 - PubMed: Goetz 2020 - - Unknown - 4, 120876, 0, 0.00003309 - - - DNA SEQ - - retinal disease 806-1324 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T, p.Arg290Trp Heterozygous - ABCA4_000355 - PubMed: Goetz 2020 - - Unknown - 4, 120876, 0, 0.00003309 - - - DNA SEQ - - retinal disease 807-1324 PubMed: Goetz 2020 807 is a family member of 806 - ? - - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T p.Arg290Trp - ABCA4_000355 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease F13 PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A g.94080709G>A c.868C>T p.Arg290Trp het - ABCA4_000355 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2011-299-011 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.868C>T r.(?) p.(Arg290Trp) Both (homozygous) ACMG likely pathogenic g.94546265G>A g.94080709G>A ABCA4 c.868C>T, p.(Arg290Trp) - ABCA4_000355 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.002 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.868C>T r.(?) p.(Arg290Trp) Unknown - likely pathogenic g.94546265G>A g.94080709G>A ABCA4 c.868C>T, p.Arg290Trp - ABCA4_000355 only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, no c.DNA annotation in paper for this variant, c. extrapolated from protein; missense mutations had to show segregation in pedigrees of at least 3 members, two of whom had to be affected. PubMed: Dockery 2017 - - Germline yes - - - - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 11 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - - - - 1 LOVD
+/. - c.868C>T r.(?) p.(Arg290Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 ACMG PM1, PM3, PM5, PP2, PP3, PP5 PubMed: Marinakis 2021 - rs781716640 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 20073 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.868C>T r.(?) p.(Arg290Trp) Parent #1 - pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 no variant 2nd chromosome PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
?/. 8 c.868C>T r.(?) p.(Arg290Trp) Unknown - VUS g.94546265G>A - c.868C>T - ABCA4_000355 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71441 PubMed: Khan 2020 - M - - - - - - - 1 LOVD
?/. - c.868C>T r.(?) p.(Arg290Trp) Unknown ACMG likely pathogenic (recessive) g.94546265G>A - - - ABCA4_000355 - PubMed: Bianco 2023 - - Unknown - - - - - DNA SEQ-NG-I Peripheral Blood Sample - maculopathy VIII.1 PubMed: Bianco 2023 - M no Italy Italian - - - - 1 Lorenzo Bianco
+?/. 8 c.868C>T r.(?) p.(Arg290Trp) Parent #1 ACMG likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat65 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 8 c.868C>T r.(?) p.(Arg290Trp) Parent #1 ACMG likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat148 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 8 c.868C>T r.(?) p.(Arg290Trp) Both (homozygous) ACMG likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat299 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.868C>T r.(?) p.(Arg290Trp) Unknown - likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0209 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.868C>T r.(?) p.(Arg290Trp) Parent #1 - likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0426 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.868C>T r.(?) p.(Arg290Trp) Parent #1 - likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0427 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.868C>T r.(?) p.(Arg290Trp) Unknown - likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0849 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.868C>T r.(?) p.(Arg290Trp) Unknown - likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0313 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.868C>T r.(?) p.(Arg290Trp) Parent #2 - likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0707 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.868C>T r.(?) p.(Arg290Trp) Unknown - likely pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-273 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.868C>T r.(?) p.(Arg290Trp) Unknown ACMG pathogenic (recessive) g.94546265G>A g.94080709G>A - - ABCA4_000355 ACMG PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-398 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 8 c.868C>T r.(?) p.(Arg290Trp) Parent #1 ACMG pathogenic g.94546265G>A g.94080709G>A - - ABCA4_000355 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072783 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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