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.

55 entries on 1 page. Showing entries 1 - 55.
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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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Technique     

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ID_report     

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+?/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - likely pathogenic g.94544185C>T g.94078629C>T c.1317G>A - ABCA4_000177 - PubMed: Zhao 2015 - - Germline - ExAC 1, 121412, 0, 0.000008236 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Zhao 2015 Simplex; c.4469G>A/p.(Cys1490Tyr) was also identified in this patient ? ? Northern Ireland ? - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic g.94544185C>T g.94078629C>T W438X - ABCA4_000177 - PubMed: Rivera 2000 - - Germline - ExAC 1, 121412, 0, 0.000008236 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic g.94544185C>T g.94078629C>T W438X - ABCA4_000177 - PubMed: Rivera 2000 - - Germline - ExAC 1, 121412, 0, 0.000008236 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439* - ABCA4_000177 - PubMed: Roberts 2012 - - Germline - 1, 121412, 0, 0.000008236 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic g.94544185C>T g.94078629C>T p.Trp439* - ABCA4_000177 - PubMed: Fujinami 2013 - - Germline - 1, 121412, 0, 0.000008236 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic g.94544185C>T g.94078629C>T p.Trp439* - ABCA4_000177 - PubMed: Fujinami 2013 - - Germline - 1, 121412, 0, 0.000008236 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439* - ABCA4_000177 - PubMed: Fujinami 2013 - - Germline - 1, 121412, 0, 0.000008236 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(1317g>a) p.(Trp439Ter) Parent #1 ACMG pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1317G>A r.(?) p.(Trp439*) Parent #2 - likely pathogenic g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 730 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1317G>A r.(?) p.(Trp439*) Parent #2 - likely pathogenic g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 786 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 10 c.1317G>A r.(?) p.(Trp439*) Parent #1 - pathogenic (recessive) g.94544185C>T g.94078629C>T p.[Trp439*];[Pro1380Leu] - ABCA4_000177 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 21 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Both (homozygous) - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A p.W439X - ABCA4_000177 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 3303 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A (p.Trp439*) - ABCA4_000177 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3504 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A,p.Trp439Ter - ABCA4_000177 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14003 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A,p.Trp439Ter - ABCA4_000177 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14070 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A,p.Trp439Ter - ABCA4_000177 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14117 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439Stop Heterozygous - ABCA4_000177 - PubMed: Goetz 2020 - - Unknown - 1, 121412, 0, 0.000008236 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3294-4038 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439Stop Heterozygous - ABCA4_000177 - PubMed: Goetz 2020 - - Unknown - 1, 121412, 0, 0.000008236 - - - DNA SEQ-NG-I - solid state SBS retinal disease 388-1772 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A p.W439X - ABCA4_000177 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20862 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A p.W439X - ABCA4_000177 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 16830 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A p.W439X - ABCA4_000177 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 18788 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A p.W439X - ABCA4_000177 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 14370 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A p.W439X - ABCA4_000177 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 16501 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A p.W439X - ABCA4_000177 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 20862 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Parent #2 - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A Trp439Stop TGG>TGA - ABCA4_000177 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 730 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Parent #2 - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A Trp439Stop TGG>TGA - ABCA4_000177 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 786 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A p.Trp439* het - ABCA4_000177 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-194-136 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439Stop Heterozygous - ABCA4_000177 - PubMed: Goetz 2020 - - Unknown - 1, 121412, 0, 0.000008236 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2213-2839 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439* Heterozygous - ABCA4_000177 - PubMed: Goetz 2020 - - Unknown - 1, 121412, 0, 0.000008236 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2213-2839 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439* Heterozygous - ABCA4_000177 - PubMed: Goetz 2020 - - Unknown - 1, 121412, 0, 0.000008236 - - - DNA SEQ - - retinal disease 2214-2839 PubMed: Goetz 2020 2214 is a family member of 2213 - ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439Stop Heterozygous - ABCA4_000177 - PubMed: Goetz 2020 - - Unknown - 1, 121412, 0, 0.000008236 - - - DNA SEQ - - retinal disease 2214-2839 PubMed: Goetz 2020 2214 is a family member of 2213 - ? - - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T c.1317G>A, p.Trp439Stop Heterozygous - ABCA4_000177 - PubMed: Goetz 2020 - - Unknown - 1, 121412, 0, 0.000008236 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4133-5063 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Parent #2 - pathogenic g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp141 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T - c.1317G>A - ABCA4_000177 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70643 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 10 c.1317G>A r.(?) p.(Trp439*) Unknown - pathogenic (recessive) g.94544185C>T - c.1317G>A - ABCA4_000177 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71439 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. - c.1317G>A r.(?) p.(Trp439*) Unknown ACMG likely pathogenic g.94544185C>T g.94078629C>T ABCA4 c.1317G>A, p.Trp439Ter - ABCA4_000177 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 54_63 PubMed: Zhu 2022 family 54, individual 63 F - - - - - - - 1 LOVD
+/. 10 c.1317G>A r.(?) p.(Trp439*) Parent #1 ACMG pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat92 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 10 c.1317G>A r.(?) p.(Trp439*) Parent #1 ACMG pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat248 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 10 c.1317G>A r.(?) p.(Trp439*) Parent #1 ACMG pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat249 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 10 c.1317G>A r.(?) p.(Trp439*) Parent #2 ACMG pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat244 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0340 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-4 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-29 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-40 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-59 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-35 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-183 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-216 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-217 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-251 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-174 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-346 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-416 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic (recessive) g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-423 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 10 c.1317G>A r.(?) p.(Trp439Ter) Both (homozygous) ACMG pathogenic g.94544185C>T g.94078629C>T - - ABCA4_000177 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073788 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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