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.

80 entries on 1 page. Showing entries 1 - 80.
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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     

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+?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - likely pathogenic g.94487490A>G g.94021934A>G ATT > ACT - ABCA4_000506 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Briggs 2001 - - Germline ? ExAC 158, 121114, 0, 0.001305 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G 4685T→C - ABCA4_000506 - PubMed: Yatsenko 2001 - - Germline - ExAC 158, 121114, 0, 0.001305 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). M ? United States white - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 - PubMed: Rosenberg 2007 - - Germline - 158, 121114, 0, 0.001305 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). ? no - ? - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 - PubMed: Rosenberg 2007 - - Germline - 158, 121114, 0, 0.001305 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). ? no - ? - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 - PubMed: Rosenberg 2007 - - Germline - 158, 121114, 0, 0.001305 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). ? no - ? - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 - PubMed: Rosenberg 2007 - - Germline - 158, 121114, 0, 0.001305 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). ? no - ? - - - - 1 Stéphanie Cornelis
+/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - pathogenic g.94487490A>G g.94021934A>G I1562T - ABCA4_000506 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Testa 2012 - - Germline - 158, 121114, 0, 0.001305 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - pathogenic g.94487490A>G g.94021934A>G I1562T - ABCA4_000506 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Testa 2012 - - Germline - 158, 121114, 0, 0.001305 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G 4685T>C - ABCA4_000506 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Downes 2012 - - Germline - 158, 121114, 0, 0.001305 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Fujinami 2013 - - Germline - 158, 121114, 0, 0.001305 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - pathogenic g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Fujinami 2013 - - Germline - 158, 121114, 0, 0.001305 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - likely pathogenic g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: van Huet 2014 - - Germline ? 158, 121114, 0, 0.001305 - - - DNA PE, SEQ - APEX STGD1 - PubMed: van Huet 2014 - F ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(4685u>c) p.(Ile1562Thr) Parent #1 ACMG VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - likely pathogenic g.94487490A>G g.94021934A>G ABCA4(NM_000350.2):c.4685T>C (p.I1562T), ABCA4(NM_000350.3):c.4685T>C (p.I1562T, p.(Ile1562Thr)) - ABCA4_000506 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/-? - c.4685T>C r.(?) p.(Ile1562Thr) Parent #2 - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat48 PubMed: Lionel 2018 - F - Canada - - - - - 1 Johan den Dunnen
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G ABCA4(NM_000350.2):c.4685T>C (p.I1562T), ABCA4(NM_000350.3):c.4685T>C (p.I1562T, p.(Ile1562Thr)) - ABCA4_000506 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G ABCA4(NM_000350.2):c.4685T>C (p.I1562T), ABCA4(NM_000350.3):c.4685T>C (p.I1562T, p.(Ile1562Thr)) - ABCA4_000506 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4685T>C r.(?) p.(Ile1562Thr) Parent #1 - likely pathogenic (recessive) g.94487490A>G g.94021934A>G - - ABCA4_000506 - 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.4685T>C r.(?) p.(Ile1562Thr) Unknown - pathogenic (recessive) g.94487490A>G - 1:94487490A>G ENST00000370225.3:c.4685T>C (Ile1562Thr) - ABCA4_000506 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G005248 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G - - - ABCA4_000506 - - - rs1762111 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - likely benign g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat77 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - pathogenic (recessive) g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat27 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD15–01 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.(I1562T) - ABCA4_000506 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 490 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T.C p.Ile1562Thr - ABCA4_000506 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P14 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 711 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 712 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.(Ile1562Thr) - ABCA4_000506 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 19 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.(Ile1562Thr) - ABCA4_000506 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 334 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.(Ile1562Thr) - ABCA4_000506 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 335 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.Ile1562Thr Het - ABCA4_000506 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-145-175 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.Ile1562Thr Het - ABCA4_000506 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-293-046 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.Ile1562Thr Het - ABCA4_000506 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-092-031 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.Ile1562Thr Het - ABCA4_000506 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-250-167 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C, p.Ile1562Thr Heterozygous - ABCA4_000506 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 158, 121114, 0, 0.001305 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2181-2804 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C, p.Ile1562Thr Heterozygous - ABCA4_000506 - PubMed: Goetz 2020 - - Unknown - 158, 121114, 0, 0.001305 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2312-2946 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C, p.Ile1562Thr Heterozygous - ABCA4_000506 - PubMed: Goetz 2020 - - Unknown - 158, 121114, 0, 0.001305 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2807-4382 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C, p.Ile1562Thr Heterozygous - ABCA4_000506 - PubMed: Goetz 2020 - - Unknown - 158, 121114, 0, 0.001305 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2983-3693 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C, p.Ile1562Thr Heterozygous - ABCA4_000506 - PubMed: Goetz 2020 - - Unknown - 158, 121114, 0, 0.001305 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3585-5258 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G p.Ile1562Thr - ABCA4_000506 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 77 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.(Ile1562Thr) - ABCA4_000506 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 28 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C,p.Ile1562Thr - ABCA4_000506 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14107 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - likely pathogenic (recessive) g.94487490A>G g.94021934A>G 4685T>A (Ile1562Thr) - ABCA4_000506 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P017 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C - ABCA4_000506 - PubMed: Light 2017 - - Unknown - - - - - DNA ? - - retinal disease P14 PubMed: Light 2017 - M ? United States white - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G het c.4685T>C p.Ile1562Thr - ABCA4_000506 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 65 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G ENST00000370225.3:c.4685T>C p.Ile1562Thr 0/1 - ABCA4_000506 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G005248 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.(Ile1562Thr) - ABCA4_000506 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 26 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C/p.I1562T - ABCA4_000506 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 355 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C p.Ile1562Thr het - ABCA4_000506 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2013-171-011 Prevention Genetics - - ? - Europe - - - - 1 Stéphanie Cornelis
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G c.4685T>C, p.Ile1562Thr Heterozygous - ABCA4_000506 - PubMed: Goetz 2020 - - Unknown - 158, 121114, 0, 0.001305 - - - DNA SEQ - - retinal disease 2385-3020 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - likely pathogenic g.94487490A>G g.94021934A>G ABCA4 c.4685T>C, p.Ile1562Thr - ABCA4_000506 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005248 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G - I1562T - ABCA4_000506 - PubMed: Bernstein 2002 - - Unknown ? - - - - DNA SEQ - - retinal disease ? PubMed: Bernstein 2002 unknown 2nd chromosome ? ? United States - - - - - 2 LOVD
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Unknown ACMG VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat219 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Parent #2 ACMG VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat265 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0055 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Parent #1 - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0065 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0616 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Parent #1 - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0800 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Parent #1 - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0874 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0072 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0080 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Parent #2 - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0433 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Parent #2 - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0820 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1022 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-4 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 3 affected M - United Kingdom (Great Britain) - - - - - 3 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-16 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-4, MEH-other-5 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-5 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-4, MEH-nonmild-16 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-81 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-92 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Both (homozygous) - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-94 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-56 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-55 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-278 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-91 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-409 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-431 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Parent #1 ACMG pathogenic g.94487490A>G g.94021934A>G - - ABCA4_000506 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073342 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Parent #2 ACMG pathogenic g.94487490A>G g.94021934A>G - - ABCA4_000506 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079882 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 33 c.4685T>C r.(?) p.(Ile1562Thr) Parent #2 ACMG pathogenic g.94487490A>G g.94021934A>G - - ABCA4_000506 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079883 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.4685T>C r.(?) p.(Ile1562Thr) Unknown - VUS g.94487490A>G - ABCA4(NM_000350.2):c.4685T>C (p.I1562T), ABCA4(NM_000350.3):c.4685T>C (p.I1562T, p.(Ile1562Thr)) - ABCA4_000506 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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