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.

44 entries on 1 page. Showing entries 1 - 44.
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+?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - likely pathogenic g.94528142A>C g.94062586A>C c.1928T>G - ABCA4_000125 - PubMed: Kitiratschky 2008 - - Germline ? ExAC 163, 121098, 1, 0.001346 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G - ABCA4_000125 - PubMed: Rosenberg 2007 - - Germline - 163, 121098, 1, 0.001346 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G - ABCA4_000125 - PubMed: Maia-Lopes 2009 - - Germline - 163, 121098, 1, 0.001346 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C Val643Gly GTG>GGG - ABCA4_000125 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 163, 121098, 1, 0.001346 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - pathogenic g.94528142A>C g.94062586A>C 1928T>G - ABCA4_000125 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - - Germline ? 163, 121098, 1, 0.001346 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G - ABCA4_000125 - PubMed: Bauwens 2014 - - Germline - 163, 121098, 1, 0.001346 - - - DNA SEQ-NG-I, PCR, SEQ - - CORD - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C p.V643G - ABCA4_000125 - PubMed: Sciezynska 2015 - - Germline - 163, 121098, 1, 0.001346 - - - DNA SEQ-NG-R - - CORD - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(1928u>g) p.(Val643Gly) Parent #1 ACMG VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 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.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C ABCA4(NM_000350.2):c.1928T>G (p.V643G), ABCA4(NM_000350.3):c.1928T>G (p.V643G, p.(Val643Gly)) - ABCA4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 13 c.1928T>G r.(?) p.(Val643Gly) Parent #1 - likely benign g.94528142A>C g.94062586A>C - - ABCA4_000125 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 13 c.1928T>G r.(?) p.(Val643Gly) Parent #2 - likely benign g.94528142A>C g.94062586A>C - - ABCA4_000125 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown - likely benign g.94528142A>C g.94062586A>C ABCA4(NM_000350.2):c.1928T>G (p.V643G), ABCA4(NM_000350.3):c.1928T>G (p.V643G, p.(Val643Gly)) - ABCA4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1928T>G r.(?) p.(Val643Gly) Parent #1 - likely pathogenic (recessive) g.94528142A>C g.94062586A>C - - ABCA4_000125 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 13 c.1928T>G r.(?) p.(Val643Gly) Parent #2 - pathogenic (recessive) g.94528142A>C g.94062586A>C - - ABCA4_000125 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat88 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
?/. - c.1928T>G r.(?) p.(Val643Gly) Maternal (confirmed) - VUS g.94528142A>C - - - ABCA4_000125 - - - - Germline - - - - - DNA SEQ - - retinal disease Fam01 PubMed: Sundaramurthy 2016 4-generation family, 4 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes India - - - - - 2 Johan den Dunnen
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G (p.Val643Gly) - ABCA4_000125 no variant 2nd chromosome PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2833 PubMed: Kellner 2009 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G p.(V643G) - ABCA4_000125 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 421 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G p.(Val643Gly) - ABCA4_000125 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66727 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928 T>G - ABCA4_000125 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 665 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G p.(Val643Gly) - ABCA4_000125 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1207 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G/p.V643G - ABCA4_000125 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 318 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G p.Val643Gly het - ABCA4_000125 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-241-298 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G p.Val643Gly Het - ABCA4_000125 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-136-329 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G p.Val643Gly Het - ABCA4_000125 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-024-251 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G p.Val643Gly Het - ABCA4_000125 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-205-266 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G, p.Val643Gly Heterozygous - ABCA4_000125 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 163, 121098, 1, 0.001346 - - - DNA SEQ - - retinal disease 126-814 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G, p.Val643Gly Heterozygous - ABCA4_000125 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 163, 121098, 1, 0.001346 - - - DNA SEQ - - retinal disease 4029-4905 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Parent #1 - VUS g.94528142A>C g.94062586A>C p.Val643Gly - ABCA4_000125 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 88 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C c.1928T>G p.(Val643Gly) - ABCA4_000125 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67296 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C het c.1928T>G p.Val643Gly - ABCA4_000125 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 89 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - likely pathogenic g.94528142A>C g.94062586A>C USH2A Ex.12 c.2081G>A p.(Cys694Tyr), Ex.50 c.9799T>C p.(Cys3267Arg), ABCA4: Ex.13 c.1928T>Gp.(Val643Gly) - ABCA4_000125 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2704 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Parent #2 - VUS g.94528142A>C - c.1928T>G/p.(Val643Gly) - ABCA4_000125 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 23 PubMed: Müller 2020 - M ? Germany - - - - - 1 LOVD
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C - c.1928T>G (p.V643G) - ABCA4_000125 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease H-142-GA PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively. Unknown 2nd chromosome. M ? Germany - - - - - 1 LOVD
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C - c.1928T>G (p.V643G)u - ABCA4_000125 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease GPS-3 PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively. M ? Germany - - - - - 1 LOVD
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C - c.1928T>G - ABCA4_000125 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA16-14392 PubMed: Khan 2020 - F - Netherlands - - - - - 1 LOVD
?/. 13 c.1928T>G r.(?) p.(Val643Gly) Parent #1 ACMG VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat303 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-340 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown - VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-349 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown ACMG VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 ACMG PP3, PM5_SUPPORTING, PP2, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-473 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - 4 Johan den Dunnen
?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown ACMG VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 ACMG PP3, PM5_SUPPORTING, PP2, PP5 PubMed: Weisschuh 2024 99102 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-800 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown ACMG VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 ACMG PP3, PM5_SUPPORTING, PP2, PP5; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-502 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown ACMG VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 ACMG PP3, PM5_SUPPORTING, PP2, PP5; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-415 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown ACMG VUS g.94528142A>C g.94062586A>C - - ABCA4_000125 ACMG PP3, PM5_SUPPORTING, PP2, PP5; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-635 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1928T>G r.(?) p.(Val643Gly) Unknown - likely benign g.94528142A>C - ABCA4(NM_000350.2):c.1928T>G (p.V643G), ABCA4(NM_000350.3):c.1928T>G (p.V643G, p.(Val643Gly)) - ABCA4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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