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.

75 entries on 1 page. Showing entries 1 - 75.
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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)     

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DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

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+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic g.94528248A>T g.94062692A>T F608I - ABCA4_000279 - PubMed: Lewis 1999 - - Germline - ExAC 1, 119894, 0, 0.000008341 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 4-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - VUS g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: Rosenberg 2007 - - Germline - 1, 119894, 0, 0.000008341 - - - 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.1822T>A r.(?) p.(Phe608Ile) Unknown - VUS g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: Ernest 2009 - - Germline - 1, 119894, 0, 0.000008341 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - VUS g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: Ernest 2009 - - Germline - 1, 119894, 0, 0.000008341 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely benign g.94528248A>T g.94062692A>T Phe608Ile TTT>ATT - ABCA4_000279 - PubMed: Schindler 2010 - - Germline ? 1, 119894, 0, 0.000008341 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic g.94528248A>T g.94062692A>T Phe608Ile TTT>ATT - ABCA4_000279 - PubMed: Schindler 2010 - - Germline ? 1, 119894, 0, 0.000008341 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - VUS g.94528248A>T g.94062692A>T Phe608Ile TTT>ATT - ABCA4_000279 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 1, 119894, 0, 0.000008341 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - pathogenic g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: Lambertus 2015 - - Germline ? - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 These mutations were found together in one patient 3 times (Among +/- 4000 patients). They could therefore be incisas the 656 mutation isn't very frequent and was never found with another mutation. ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: Lambertus 2015 - - Germline - 1, 119894, 0, 0.000008341 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - VUS g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: Lambertus 2015 - - Germline ? 1, 119894, 0, 0.000008341 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - VUS g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: Lambertus 2015 - - Germline - 1, 119894, 0, 0.000008341 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: van Huet 2014 - - Germline - 1, 119894, 0, 0.000008341 - - - DNA PE, SEQ - APEX STGD1 - PubMed: van Huet 2014 - F ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - VUS g.94528248A>T g.94062692A>T c.1822T>A - ABCA4_000279 - PubMed: van Huet 2014 - - Germline - 1, 119894, 0, 0.000008341 - - - DNA PE, SEQ - APEX STGD1 - PubMed: van Huet 2014 - F ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1822T>A r.(1822u>a) p.(Phe608Ile) Parent #1 ACMG pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic g.94528248A>T g.94062692A>T - - ABCA4_000279 - - - rs61752398 Germline - - - - - DNA SEQ-NG - - STGD1 - Haer-Wigman 2016 - ? - - - - - - - 1 Lonneke Haer-Wigman
+?/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic g.94528248A>T g.94062692A>T - - ABCA4_000279 - - - rs61752398 Germline - - - - - DNA SEQ-NG - - STGD - Haer-Wigman 2016 - - no - - - - - - 1 Lonneke Haer-Wigman
+/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown - pathogenic g.94528248A>T g.94062692A>T ABCA4(NM_000350.2):c.1822T>A (p.F608I), ABCA4(NM_000350.3):c.1822T>A (p.F608I, p.(Phe608Ile)) - ABCA4_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown - pathogenic g.94528248A>T g.94062692A>T ABCA4(NM_000350.2):c.1822T>A (p.F608I), ABCA4(NM_000350.3):c.1822T>A (p.F608I, p.(Phe608Ile)) - ABCA4_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamAPatI2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamFPatII2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamGPatI2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamFPatII2 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamSPatII1 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+/. - c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat5 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat52 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.1822T>A r.(?) p.(Phe608Ile) Parent #2 - likely pathogenic g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 652 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1822T>A r.(?) p.(Phe608Ile) Parent #2 - likely pathogenic g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 653 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1822T>A r.(?) p.(Phe608Ile) Parent #2 - likely pathogenic g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 749 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown - pathogenic g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 7762 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown - pathogenic g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 3338 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+?/. 3 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T p.Phe608Ile - ABCA4_000279 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 5 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T p.Phe608Ile - ABCA4_000279 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 52 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.F608I - ABCA4_000279 - PubMed: Thiadens 2012 - - Unknown - - - - - DNA DGGE, PE, SEQ - APEX retinal disease Unknown 296 PubMed: Thiadens 2012 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.Phe608Ile - ABCA4_000279 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 70 PubMed: Cideciyan 2015 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 no variant 2nd chromosome PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 35 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 19 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 no variant 2nd chromosome PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 57 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(F608I) - ABCA4_000279 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 417 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Runhart 2018 - - Unknown - - - - - DNA PCRh, SEQ - Haloplex retinal disease F-II:2 PubMed: Runhart 2018 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Runhart 2018 - - Unknown - - - - - DNA PCRh, SEQ - Haloplex retinal disease S-II:1 PubMed: Runhart 2018 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease F-II:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease G-I:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A/p.(Phe608Ile) // c.4773+48C>T // c.5682G>C/p.(Leu1894Leu) - ABCA4_000279 - PubMed: Müller 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 16 PubMed: Müller 2020 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T het c.1822T>A p.Phe608Ile - ABCA4_000279 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 36 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Haer-Wigman 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease 3338 PubMed: Haer-Wigman 2017 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Haer-Wigman 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease 7762 PubMed: Haer-Wigman 2017 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A/p.F608I - ABCA4_000279 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 204 PubMed: Weisschuh 2020 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Both (homozygous) - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A/p.F608I - ABCA4_000279 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 231 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A/p.F608I - ABCA4_000279 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 258 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A/p.F608I - ABCA4_000279 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 262 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A/p.F608I - ABCA4_000279 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 341 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T F608I - ABCA4_000279 - PubMed: Huang 2014 - - Unknown - - - - - DNA ? - - retinal disease P1 PubMed: Huang 2014 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease Radboudumc 4 PubMed: Lambertus 2017 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A Phe608Ile TTT>ATT - ABCA4_000279 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 652 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #2 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A Phe608Ile TTT>ATT - ABCA4_000279 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 653 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #2 - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A Phe608Ile TTT>ATT - ABCA4_000279 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 749 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A, p.Phe608Ile - ABCA4_000279 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16002 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A/p.F608I - ABCA4_000279 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 300 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T g.94062692A>T c.1822T>A, p.Phe608Ile Heterozygous - ABCA4_000279 - PubMed: Goetz 2020 - - Unknown - 1, 119894, 0, 0.000008341 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4095-4985 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - pathogenic g.94528248A>T - c.1822T>A - ABCA4_000279 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T - c.1822T>A - ABCA4_000279 - PubMed: Sangermano 2016 - - Unknown ? - - - - DNA ? - - retinal disease P17 PubMed: Sangermano 2016 unknown 2nd chromosome ? ? - - - - - - 1 LOVD
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T - c.1822T>A p.(Phe608Ile) - ABCA4_000279 - PubMed: Bax 2019 - - Unknown ? - - - - DNA PE, SEQ - - retinal disease 18 PubMed: Bax 2019 unknown 2nd chromosome ? ? Netherlands - - - - - 1 LOVD
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 - likely pathogenic (recessive) g.94528248A>T - c.1822T>A/p.(Phe608Ile) //c.4773+48C>T //c.5682G>C/p.(Leu1894Leu) - ABCA4_000279 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 16 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T - c.1822T>A - ABCA4_000279 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA08-00134 PubMed: Khan 2020 - M - Netherlands - - - - - 1 LOVD
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T - c.1822T>A - ABCA4_000279 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA12-15538 PubMed: Khan 2020 - M - Netherlands - - - - - 1 LOVD
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T - c.1822T>A - ABCA4_000279 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA13-00220 PubMed: Khan 2020 - F - Netherlands - - - - - 1 LOVD
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T - c.1822T>A - ABCA4_000279 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA17-12962 PubMed: Khan 2020 - F - Netherlands - - - - - 1 LOVD
+?/. 13 c.1822T>A r.(?) p.(Phe608Ile) Unknown - likely pathogenic (recessive) g.94528248A>T - c.1822T>A - ABCA4_000279 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66743 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #1 ACMG pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat318 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 13 c.1822T>A r.(?) p.(Phe608Ile) Parent #2 ACMG pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat326 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown - pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA MCA, SEQ - - retinal disease L-0930 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown ACMG pathogenic (recessive) g.94528248A>T g.94062692A>T - - ABCA4_000279 ACMG PP3, PM2, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-328 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown - pathogenic g.94528248A>T - ABCA4(NM_000350.2):c.1822T>A (p.F608I), ABCA4(NM_000350.3):c.1822T>A (p.F608I, p.(Phe608Ile)) - ABCA4_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1822T>A r.(?) p.(Phe608Ile) Unknown - VUS g.94528248A>T - ABCA4(NM_000350.2):c.1822T>A (p.F608I), ABCA4(NM_000350.3):c.1822T>A (p.F608I, p.(Phe608Ile)) - ABCA4_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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