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.

63 entries on 1 page. Showing entries 1 - 63.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Panel size     

Owner     
?/. 28i c.4253+4C>T r.spl? p.? Unknown - VUS g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 28i c.4253+4C>T r.spl? p.(?) Both (homozygous) - VUS g.94496548G>A g.94030992G>A [c.4253+4C>T] - ABCA4_000088 - PubMed: Özgül 2004 - - Germline yes ExAC 2, 120802, 0, 0.00001656 - - - DNA PCR, SSCA, SEQ - - retinal disease - PubMed: Özgül 2004 - ? ? Turkey ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+4C>T r.spl? p.(?) Both (homozygous) - VUS g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 - PubMed: Riveiro-Alvarez 2013, PubMed: Sanchez-Alcudia 2014 - - Germline ? 2, 120802, 0, 0.00001656 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD RP-0714PatII3 PubMed: Riveiro-Alvarez 2013,PubMed: Sanchez-Alcudia 2014 3-generation family, affected mother/daughter F yes Spain ? - - - - 2 Stéphanie Cornelis
?/. 28i c.4253+4C>T r.spl? p.(?) Both (homozygous) - VUS g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 2, 120802, 0, 0.00001656 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.spl? p.(?) Unknown - likely pathogenic g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 2, 120802, 0, 0.00001656 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+4C>T r.spl? p.(?) Unknown - VUS g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 - PubMed: Riveiro-Alvarez 2013 - - Germline - 2, 120802, 0, 0.00001656 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+4C>T r.spl? p.(?) Both (homozygous) - VUS g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 - PubMed: Fujinami 2013 - - Germline ? 2, 120802, 0, 0.00001656 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - South Asian - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.spl? p.(?) Paternal (confirmed) - likely pathogenic g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 - PubMed: Zernant 2014 - - Germline - 2, 120802, 0, 0.00001656 - - - DNA arrayCGH, SEQ-NG-R, SEQ-NG-I, SEQ - - STGD1 - PubMed: Zernant 2014 - M yes - USA, Spain, Italy or Denmark - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.spl? p.(?) Paternal (inferred) - likely pathogenic g.94496548G>A g.94030992G>A Gly1961Glu - ABCA4_000088 - PubMed: Sánchez-Alcudia 2014 - - Germline - 2, 120802, 0, 0.00001656 - - - DNA SEQ - - STGD1 RP-0714PatIII3 PubMed: Sánchez-Alcudia 2014 daughter F yes Spain ? - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+4C>T r.4129_4253del p.Ile1377HisfsTerTer3 Parent #1 ACMG pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs∗3) Unknown - NA g.94496548G>A g.94030992G>A - - ABCA4_000088 expression cloning midigene splicing construct: 0.078 correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 28i c.4253+4C>T r.spl p.? Parent #1 - likely pathogenic g.94496548G>A g.94030992G>A - - ABCA4_000088 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+4C>T r.spl? p.? Parent #2 - VUS g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P19 PubMed: Hu 2019 - M no China Asian - - yes none 1 Fangyuan Hu
+/. - c.4253+4C>T r.spl? p.? Unknown - pathogenic g.94496548G>A g.94030992G>A - - ABCA4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4253+4C>T r.spl p.? Parent #1 - likely pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.4253+4C>T r.spl p.? Parent #2 - likely pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel, WES retinal disease ZD345 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Parent #1 - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10110 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Both (homozygous) - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T Splice - ABCA4_000088 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 17005 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Both (homozygous) - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T p.(?) - ABCA4_000088 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease MEH 7 PubMed: Lambertus 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Both (homozygous) - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, splice sitealteration - ABCA4_000088 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14076 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, splice sitealteration - ABCA4_000088 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18014 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, splice sitealteration - ABCA4_000088 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18025 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, splice sitealteration - ABCA4_000088 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18030 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253 + 4C > T - ABCA4_000088 - PubMed: Riera 2019 - - Unknown - - - - - DNA ? - - retinal disease STGD1_FiPS4F1.5 PubMed: Riera 2019 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T p.(?) - ABCA4_000088 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66746 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 700 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 701 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T - ABCA4_000088 no variant 2nd chromosome PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1057 PubMed: Hu 2019 - - ? China China - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253 + 4C>T# p.? Intron29 Het - ABCA4_000088 de novo variant PubMed: Hu 2020PubMed: Hu 2019 - - De novo yes - - - - DNA SEQ-NG - WES retinal disease F7:?:1 ; P19 PubMed: Hu 2020PubMed: Hu 2019 - M no China China - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T p.(Ile1377Hisfs*3) - ABCA4_000088 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0423 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Parent #1 - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T p.(Ile1377Hisfs*3) - ABCA4_000088 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0821 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Both (homozygous) - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>Tc.4253+4C>T, Homozygous - ABCA4_000088 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 120802, 0, 0.00001656 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2131-2750 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, Heterozygous - ABCA4_000088 - PubMed: Goetz 2020 - - Unknown - 2, 120802, 0, 0.00001656 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2143-2762 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, Heterozygous - ABCA4_000088 - PubMed: Goetz 2020 - - Unknown - 2, 120802, 0, 0.00001656 - - - DNA SEQ - - retinal disease 3948-4812 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, Heterozygous - ABCA4_000088 - PubMed: Goetz 2020 - - Unknown - 2, 120802, 0, 0.00001656 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4745-5760 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T (p.?) - ABCA4_000088 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3326 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.2588 G>Cc.4253+4 C>T - ABCA4_000088 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 11 PubMed: Schroeder 2018 - M ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.2588 G>Cc.4253+4 C>T - ABCA4_000088 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 18 PubMed: Schroeder 2018 - F ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.768 G>Tc.4253+ 4C>T - ABCA4_000088 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 31 PubMed: Schroeder 2018 - F ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T p.(Ile1377Hisfs*3) - ABCA4_000088 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1184 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T p.(Ile1377Hisfs*3) - ABCA4_000088 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1274 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T p.? - ABCA4_000088 - PubMed: Weisschuh 2016 - - Unknown - - - - - DNA SEQ-NG - gene panel, WES retinal disease ZD345 PubMed: Weisschuh 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253‡4C>T; p.? - ABCA4_000088 - PubMed: Rodríguez-Muños 2020 - - Unknown - - - - - DNA SEQ-NG - - retinal disease RPN-410 PubMed: Rodríguez-Muños 2020 - F ? Spain Spain - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, Heterozygous - ABCA4_000088 - PubMed: Goetz 2020 - - Unknown - 2, 120802, 0, 0.00001656 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1164-2634 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, Heterozygous - ABCA4_000088 - PubMed: Goetz 2020 - - Unknown - 2, 120802, 0, 0.00001656 - - - DNA SEQ - - retinal disease 1260-1828 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, Heterozygous - ABCA4_000088 - PubMed: Goetz 2020 - - Unknown - 2, 120802, 0, 0.00001656 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3730-4537 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A g.94030992G>A c.4253+4C>T, Heterozygous - ABCA4_000088 - PubMed: Goetz 2020 - - Unknown - 2, 120802, 0, 0.00001656 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3949-4812 PubMed: Goetz 2020 3949 is a family member of 3948 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Both (homozygous) - likely pathogenic g.94496548G>A g.94030992G>A ABCA4 IVS28 c.4253+4C>T p.(Ile1377Hisfs*3), IVS28 c.4253+4C>T p.(Ile1377Hisfs*3) - ABCA4_000088 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0714 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. - c.4253+4C>T r.spl? p.(?) Unknown ACMG pathogenic g.94496548G>A g.94030992G>A ABCA4:NM_000350 c.4253+4C>T, p.? - ABCA4_000088 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-410 PubMed: Rodriguez-Munoz 2020 family fRPN-187, proband F - Spain - - - - - 1 LOVD
+?/. 28i c.4253+4C>T r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.94496548G>A - c.4253+4C>T - ABCA4_000088 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.4253+4C>T r.spl p.(Ile1377HisfsTer3) Parent #1 - pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A - c.4253+4C>T - ABCA4_000088 unknown variant 2nd chromosome Sangermano 2018 - - Unknown ? - - - - DNA MIPsm - - retinal disease 67116 PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+?/. 28i c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496548G>A - c.4253+4C>T - ABCA4_000088 - Sangermano 2018 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70554 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 28i c.4253+4C>T r.spl p.Ile1377Hisfs*3 Parent #1 ACMG pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat11 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.4253+4C>T r.spl? p.? Unknown ACMG pathogenic g.94496548G>A - - - ABCA4_000088 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-689736 rs61754044 Germline yes - - - - DNA SEQ-NG-I buccal swab - STGD 2910469 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no (Mexico) Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0999 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4253+4C>T r.4129_4253del p.(Ile1377Hisfs*3) Unknown - pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0036 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4253+4C>T r.(4129_4253del) p.(Ile1377Hisfs*3) Both (homozygous) - pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-127 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4253+4C>T r.(4129_4253del) p.(Ile1377Hisfs*3) Unknown - pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-85 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4253+4C>T r.(4129_4253del) p.(Ile1377Hisfs*3) Unknown - pathogenic (recessive) g.94496548G>A g.94030992G>A - - ABCA4_000088 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-405 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.4253+4C>T r.spl p.Ile1377Hisfs*3 Unknown ACMG likely pathogenic g.94496548G>A g.94030992G>A - - ABCA4_000088 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067116 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.4253+4C>T r.spl p.Ile1377Hisfs*3 Unknown ACMG likely pathogenic g.94496548G>A g.94030992G>A - - ABCA4_000088 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy DNA18-01480 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 28i c.4253+4C>T r.spl? p.? Unknown ACMG likely pathogenic g.94496548G>A g.94030992G>A - - ABCA4_000088 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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