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.

69 entries on 1 page. Showing entries 1 - 69.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - likely pathogenic g.94486888G>C g.94021332G>C C4926G - ABCA4_000137 - PubMed: Birch 2001 - - Germline - ExAC 4, 121404, 0, 0.00003295 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - likely pathogenic g.94486888G>C g.94021332G>C (4926C>G) - ABCA4_000137 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 4, 121404, 0, 0.00003295 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - M ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.[4926C>G]+[5041_5055del] - ABCA4_000137 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - likely pathogenic g.94486888G>C g.94021332G>C c.[2791G>A]+[4926C>G] - ABCA4_000137 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.[4926C>G]+[5041_5055del] - ABCA4_000137 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg - ABCA4_000137 - PubMed: Roberts 2012 - - Germline - 4, 121404, 0, 0.00003295 - - - 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
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G - ABCA4_000137 - PubMed: Fujinami 2013 - - Germline - 4, 121404, 0, 0.00003295 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - likely pathogenic g.94486888G>C g.94021332G>C c.4926C>G - ABCA4_000137 - PubMed: Fujinami 2013 - - Germline - 4, 121404, 0, 0.00003295 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg - ABCA4_000137 - PubMed: Fujinami 2013 - - Germline - 4, 121404, 0, 0.00003295 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4926C>G r.(4926c>g) p.(Ser1642Arg) Parent #1 ACMG likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 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.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C - ABCA4(NM_000350.2):c.4926C>G (p.S1642R) - ABCA4_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4926C>G r.(?) p.(Ser1642Arg) Both (homozygous) - pathogenic (recessive) g.94486888G>C - - - ABCA4_000137 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam3PatFBP_1 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G p.S1642R - ABCA4_000137 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA SEQ-NG - - retinal disease D516 PubMed: Bertelsen 2014 - M ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C p.[Ser1642Arg; - ABCA4_000137 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam G II 1 PubMed: Salles 2017 - F no Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C p.[Ser1642Arg; - ABCA4_000137 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam H II 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C p.[Ser1642Arg; - ABCA4_000137 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam I II 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C p.[Ser1642Arg; - ABCA4_000137 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam J II 2 PubMed: Salles 2017 - F no Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C p.[Ser1642Arg; - ABCA4_000137 - 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
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C p.[Ser1642Arg; - ABCA4_000137 - 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
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C p.[Ser1642Arg; - ABCA4_000137 - 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
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C p.[Ser1642Arg; - ABCA4_000137 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam M II 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G,p.Ser1642Arg - ABCA4_000137 - 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
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G,p.Ser1642Arg - ABCA4_000137 - 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
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000137 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 1 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000137 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 10 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000137 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 13 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000137 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 22 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000137 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000137 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 34 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡ - ABCA4_000137 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 44 PubMed: Salles 2018 parent of patient 43 F ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.[4926C>G;5044_5058del] p.[Ser1642Arg;Val1682_Val1686del] - ABCA4_000137 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0886 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Both (homozygous) - VUS g.94486888G>C g.94021332G>C c.[4926C>G;5044_5058del] p.[Ser1642Arg; Val1681_Cys1685del] - ABCA4_000137 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1063 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Both (homozygous) - VUS g.94486888G>C g.94021332G>C c.4926C>G p.(Ser1642Arg) - ABCA4_000137 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 18 PubMed: Jespersgaard 2019 The variant CNGA1 c.540del p.(Trp180*)# was found as well. - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Heterozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA SEQ - - retinal disease 3426-4179 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Heterozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA SEQ - - retinal disease 3427-4179 PubMed: Goetz 2020 3427 is a family member of 3426 - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Heterozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA SEQ - - retinal disease 3482-4240 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Both (homozygous) - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Homozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA SEQ - - retinal disease 6502-7650 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.5041del15; Ser1642Arg - ABCA4_000137 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 130 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.5041del15; Ser1642Arg - ABCA4_000137 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 131 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.5041del15; Ser1642Arg - ABCA4_000137 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 132 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.5041del15; Ser1642Arg - ABCA4_000137 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 133 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C g.94021332G>C c.5041del15; Ser1642Arg - ABCA4_000137 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 134 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #2 - VUS g.94486888G>C g.94021332G>C c.4926C>G p.(Ser1642Arg) - ABCA4_000137 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC00467 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #2 - VUS g.94486888G>C g.94021332G>C c.4926C>G p.(Ser1642Arg) - ABCA4_000137 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC05056 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.[4926C>G;5044_5058del] p.[Ser1642Arg;Val1681_Cys1685del] - ABCA4_000137 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0589 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G p.Ser1642Arg Suspected Pathogenic - ABCA4_000137 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-078-098 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Heterozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1701-2263 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Heterozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2090-2706 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Heterozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 348-1731 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Both (homozygous) - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Homozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA SEQ - - retinal disease 6502-7650 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - VUS g.94486888G>C g.94021332G>C c.4926C>G, p.Ser1642Arg Heterozygous - ABCA4_000137 - PubMed: Goetz 2020 - - Unknown - 4, 121404, 0, 0.00003295 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 678-1224 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown - likely pathogenic (recessive) g.94486888G>C - c.4926C>G, p.Ser1642Arg - ABCA4_000137 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 8 PubMed: Fujinami 2013 unknown 2nd chromosome ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - VUS g.94486888G>C - c.[4926C>G;5044_5058del] - ABCA4_000137 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71286 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Unknown ACMG likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Paternal (confirmed) ACMG pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - PubMed: Villafuerte-De la Cruz 2022 ClinVar-99340 rs62646872 Germline yes - - - - 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.4926C>G r.(?) p.(Ser1642Arg) Unknown ACMG pathogenic (recessive) g.94486888G>C - - - ABCA4_000137 - PubMed: Villafuerte-De la Cruz 2022 ClinVar-99332 rs61753017 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.4926C>G r.(?) p.(Ser1642Arg) Unknown ACMG pathogenic g.94486888G>C - - - ABCA4_000137 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-236129 rs61753017 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.4926C>G r.(?) p.(Ser1642Arg) Paternal (confirmed) ACMG pathogenic g.94486888G>C - - - ABCA4_000137 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-99332 rs61753017 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.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Parent #1 - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Both (homozygous) - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Unknown - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Unknown - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Unknown - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Unknown - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Unknown ACMG likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - 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.4926C>G r.(?) p.(Ser1642Arg) Unknown ACMG pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 ACMG PS1, PM2, PM1_SUPPORTING, PP2, PP5_STRONG PubMed: Weisschuh 2024 99332 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-799 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 35 c.4926C>G r.(?) p.(Ser1642Arg) Parent #1 ACMG pathogenic g.94486888G>C g.94021332G>C c.4926C>G(;)5044_5058del - ABCA4_000137 - 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
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.