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.

83 entries on 1 page. Showing entries 1 - 83.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Methylation     

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Technique     

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Disease     

ID_report     

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+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - likely pathogenic g.94485279_94485293del g.94019723_94019737del 4927del15 - ABCA4_000476 - PubMed: Allikmets 1997; PubMed: Allikmets 1997 - - Germline yes - - - - DNA HD, SEQ - - STGD1 - PubMed: Anderson 1995 - ? yes United States ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - likely pathogenic g.94485279_94485293del g.94019723_94019737del 5041del15pb - ABCA4_000476 - PubMed: Valverde 2007 - - Germline yes - - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.[4926C>G]+[5041_5055del] - ABCA4_000476 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.[4926C>G]+[5041_5055del] - ABCA4_000476 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - VUS g.94485279_94485293del g.94019723_94019737del c.5041del15, p.V1681_C1685del - ABCA4_000476 - PubMed: Roberts 2012 - - Germline - - - - - 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
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.5045_5059delGTTGCCATCTGCGTG - ABCA4_000476 - PubMed: Chacón-Camacho 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - VUS g.94485279_94485293del g.94019723_94019737del c.5041_5055del - ABCA4_000476 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.5041_5055del - ABCA4_000476 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.5041_5055del - ABCA4_000476 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.5041_5055del - ABCA4_000476 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.5041_5055del - ABCA4_000476 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - pathogenic g.94485279_94485293del g.94019723_94019737del c.5041_5055del - ABCA4_000476 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.5041_5055del - ABCA4_000476 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic g.94485279_94485293del g.94019723_94019737del c.5041_5055delGTGGTTGCCATCTGC - ABCA4_000476 - PubMed: Fujinami 2013 - - Germline ? - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 36 c.5044_5058del r.(5044_5058del) p.(Val1682_Val1686del) Parent #1 ACMG pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - VUS g.94485279_94485293del - ABCA4(NM_000350.2):c.5044_5058delGTTGCCATCTGCGTG (p.V1682_V1686del) - ABCA4_000476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del 94485275TCACGCAGATGGCAAC>T - ABCA4_000476 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam3PatFBP_1 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown ACMG likely pathogenic g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - Mena et al., 2020 submitted - rs62646872 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown ACMG likely pathogenic g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - Mena et al., 2020 submitted - rs62646872 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown ACMG likely pathogenic g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - Mena et al., 2020 submitted - rs62646872 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041del15; Ser1642Arg - ABCA4_000476 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 130 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041del15; Ser1642Arg - ABCA4_000476 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 131 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041del15; Ser1642Arg - ABCA4_000476 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 132 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041del15; Ser1642Arg - ABCA4_000476 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 133 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041del15; Ser1642Arg - ABCA4_000476 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 134 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15‡ p.Val1682_Val1686del‡ - ABCA4_000476 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 25 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del p.(Val1681_Cys1685del) - ABCA4_000476 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0929 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15, p.Val1682_Val1686del Heterozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2090-2706 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041_5055del, p.Val1681_Cys1685del Heterozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 678-1224 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041_5055del p.V1681_C1685del - ABCA4_000476 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA SEQ-NG - - retinal disease D516 PubMed: Bertelsen 2014 - M ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del Val1682_Val1686del] - ABCA4_000476 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam G II 1 PubMed: Salles 2017 - F no Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del Val1682_Val1686del] - ABCA4_000476 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam H II 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del Val1682_Val1686del] - ABCA4_000476 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam I II 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del Val1682_Val1686del] - ABCA4_000476 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam J II 2 PubMed: Salles 2017 - F no Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del Val1682_Val1686del] - ABCA4_000476 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam K II 2 PubMed: Salles 2017 Sibling of Fam K II 3 M no Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del Val1682_Val1686del] - ABCA4_000476 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam K II 3 PubMed: Salles 2017 Sibling of Fam K II 2 F no Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del Val1682_Val1686del] - ABCA4_000476 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam L I 1 PubMed: Salles 2017 parent of Fam L II 2 F no Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del Val1682_Val1686del] - ABCA4_000476 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam M II 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041_5055delGTGGTTGCCATCTGC,p.Val1681_Cys1685del - ABCA4_000476 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13104 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5041_5055delGTGGTTGCCATCTGC,p.Val1681_Cys1685del - ABCA4_000476 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14008 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #2 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del p.(Val1682_Val1686del) - ABCA4_000476 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC00467 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #2 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del[25] p.(Val1682_Val1686del)+ - ABCA4_000476 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC05056 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000476 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 1 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000476 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 10 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000476 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 13 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000476 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 22 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000476 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000476 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 34 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000476 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 44 PubMed: Salles 2018 parent of patient 43 F ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His - ABCA4_000476 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 47 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.[4926C>G;5044_5058del] p.[Ser1642Arg;Val1681_Cys1685del] - ABCA4_000476 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0589 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.[4926C>G;5044_5058del] p.[Ser1642Arg;Val1682_Val1686del] - ABCA4_000476 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0886 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.[4926C>G;5044_5058del] p.[Ser1642Arg; Val1681_Cys1685del] - ABCA4_000476 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1063 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del p.(Val1682_Val1686del) - ABCA4_000476 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1239 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del p.(Val1682_Val1686del) - ABCA4_000476 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-2133 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15 p.Val1682_Val1686del Het - ABCA4_000476 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-078-098 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15, p.Val1682_Val1686del Heterozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1701-2263 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15, p.Val1682_Val1686del Heterozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 3426-4179 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15, p.Val1682_Val1686del Heterozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 3427-4179 PubMed: Goetz 2020 3427 is a family member of 3426 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15, p.Val1682_Val1686del Heterozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 348-1731 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del, p.Val1682_Val1686del Heterozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 3482-4240 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15, p.Val1682_Val1686del Heterozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 5460-6627 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15, p.Val1682_Val1686del Homozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 6502-7650 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del c.5044_5058del15, p.Val1682_Val1686del Homozygous - ABCA4_000476 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 6502-7650 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown ACMG pathogenic g.94485279_94485293del g.94019723_94019737del ABCA4 c.5044_5058delGTTGCCATCTGCGTG, p.(Val1682_Val1686del) - ABCA4_000476 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.021 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - likely pathogenic (recessive) g.94485276_94485290del - c.[4926C>G;5044_5058del] - ABCA4_000476 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71286 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown ACMG pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat225 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown ACMG pathogenic g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - Villafuerte-de la Cruz RA, et al., 2023. Submitted - rs62646872 Germline yes - - - - DNA SEQ-NG-I buccal swab - STGD 2507547 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no (Mexico) Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Paternal (confirmed) - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Villafuerte-De la Cruz 2022 - - Germline - - - - - DNA SEQ-NG-I Blood - STGD 2355129 PubMed: Villafuerte-De la Cruz 2022 2-generation family, 1 affected, unaffected heterozygous parents F no (Mexico) Hispanic - - yes None 1 Rocio Villafuerte-de la Cruz
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Villafuerte-De la Cruz 2022 - - Uniparental disomy, paternal allele - - - - - DNA SEQ-NG-I Blood - STGD 2355129 PubMed: Villafuerte-De la Cruz 2022 2-generation family, 1 affected, unaffected heterozygous parents F no (Mexico) Hispanic - - yes None 1 Rocio Villafuerte-de la Cruz
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Paternal (confirmed) ACMG pathogenic g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-99340 rs62646872 Germline yes - - - - DNA SEQ-NG-I Buccal swab - STGD 3679815 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F - Mexico Hispanic - - - None 1 Rocio Villafuerte-de la Cruz
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0012 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0027 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Parent #1 - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0029 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Both (homozygous) - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0211 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0277 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0314 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0597 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0674 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - likely pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-103 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown - VUS g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-351 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown ACMG pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 ACMG PM2, PM4, PM1, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-799 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 36 c.5044_5058del r.(?) p.(Val1682_Val1686del) Unknown ACMG pathogenic g.94485279_94485293del g.94019723_94019737del c.4926C>G(;)5044_5058del - ABCA4_000476 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074186 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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