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.

67 entries on 1 page. Showing entries 1 - 67.
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AscendingDNA change (cDNA)     

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Protein     

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DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

dbSNP ID     

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?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A - ABCA4_000497 - PubMed: Bauwens 2014 - - Germline - 317, 121146, 0, 0.002617 - - - DNA SEQ-NG-I, PCR, SEQ - - macular dystrophy - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Maternal (confirmed) - likely pathogenic g.94487404C>T g.94021848C>T c.1654G>A/c.4771G>A - ABCA4_000497 - PubMed: Müller 2015 - - Germline ? - - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.spl? p.(Gly1591Arg,?) Parent #1 ACMG VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 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.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T ABCA4(NM_000350.2):c.4771G>A (p.G1591R), ABCA4(NM_000350.3):c.4771G>A (p.G1591R) - ABCA4_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4771G>A r.(?) p.(Gly1591Arg) Unknown - likely benign g.94487404C>T g.94021848C>T ABCA4(NM_000350.2):c.4771G>A (p.G1591R), ABCA4(NM_000350.3):c.4771G>A (p.G1591R) - ABCA4_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 - likely benign g.94487404C>T g.94021848C>T - - ABCA4_000497 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 - likely benign g.94487404C>T g.94021848C>T - - ABCA4_000497 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 - likely benign g.94487404C>T g.94021848C>T - - ABCA4_000497 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 - likely benign g.94487404C>T g.94021848C>T - - ABCA4_000497 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 - likely benign g.94487404C>T g.94021848C>T - - ABCA4_000497 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. - c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs113106943 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.4771G>A r.(?) p.(Gly1591Arg) Unknown - likely benign g.94487404C>T g.94021848C>T ABCA4(NM_000350.2):c.4771G>A (p.G1591R), ABCA4(NM_000350.3):c.4771G>A (p.G1591R) - ABCA4_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4771G>A r.(?) p.(Gly1591Arg) Unknown - pathogenic (recessive) g.94487404C>T - 1:94487404C>T ENST00000370225.3:c.4771G>A (Gly1591Arg) - ABCA4_000497 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005226 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
-?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - likely benign g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat9 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
-?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - likely benign g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat66 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 - VUS g.94487404C>T g.94021848C>T p.G1591R - ABCA4_000497 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10086 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.(G1591R) - ABCA4_000497 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 492 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G.A - ABCA4_000497 no variant 2nd chromosome PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 29 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A,p.Gly591Arg - ABCA4_000497 no variant 2nd chromosome PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17033 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.(Gly1591Arg) - ABCA4_000497 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 66705 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.(Gly1591Arg) - ABCA4_000497 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 66706 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.(Gly1591Arg) - ABCA4_000497 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 66800 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.(Gly1591Arg) - ABCA4_000497 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 66823 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.(Gly1591Arg) - ABCA4_000497 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 67161 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.(Gly1591Arg) - ABCA4_000497 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1266 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg het - ABCA4_000497 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2016-182-096 Prevention Genetics - - ? - Jewish-Ashkenazi - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-125-119 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-078-058 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-078-069 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg Het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-165-332 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg Het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-198-100 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg Het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-241-273 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg Het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-262-441 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg Het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-205-240 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg Het - ABCA4_000497 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-205-258 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2105-2719 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2318-2951 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 - PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 3311-4054 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 - PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3853-4733 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 3976-4842 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 4048-4925 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 4606-5633 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 - PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 5364-6505 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 738-1288 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 974-1524 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T p.Gly1591Arg - ABCA4_000497 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 9 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T p.Gly1591Arg - ABCA4_000497 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 66 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg - ABCA4_000497 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease ABCA4-39A PubMed: Smaragda 2018 - F ? Greece - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T het c.4771G>A p.Gly1591Arg - ABCA4_000497 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 46 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T het c.4771G>A p.Gly1591Arg - ABCA4_000497 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 96 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T ENST00000370225.3:c.4771G>A p.Gly1591Arg 0/1 - ABCA4_000497 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G005226 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A p.Gly1591Arg Het - ABCA4_000497 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-205-261 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 - PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 1267-1804 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T c.4771G>A, p.Gly1591Arg Heterozygous - ABCA4_000497 - PubMed: Goetz 2020 - - Unknown - 317, 121146, 0, 0.002617 - - - DNA SEQ - - retinal disease 385-1799 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown - likely pathogenic g.94487404C>T - c.4771G>A - ABCA4_000497 - PubMed: Eisenberger-2013 - rs113106943 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+?/. - c.4771G>A r.(?) p.(Gly1591Arg) Unknown - likely pathogenic g.94487404C>T g.94021848C>T ABCA4 c.4771G>A, p.Gly1591Arg - ABCA4_000497 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005226 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.4771G>A r.(?) p.(Gly1591Arg) Unknown - likely pathogenic g.94487404C>T g.94021848C>T PRPH2 c.4771G>A, p.Gly1591Arg - ABCA4_000497 error in annotation, the change ascribed to PRPH2 belongs to ABCA4, heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 154 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 - VUS g.94487404C>T - c.1654G>A/p.(Val552Ile) //c.4771G>A/p.(Gly1591Arg) - ABCA4_000497 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 22 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+/. - c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 - pathogenic (recessive) g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Parent #1 ACMG VUS g.94487404C>T g.94021848C>T c.[1792G>A;4771G>A] - ABCA4_000497 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat25 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown ACMG VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat89 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. 33 c.4771G>A r.(?) p.(Gly1591Arg) Unknown ACMG VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat197 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. - c.4771G>A r.spl? p.(Gly1591Arg,?) Unknown - VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0052 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.4771G>A r.spl? p.(Gly1591Arg,?) Unknown - VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0812 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.4771G>A r.spl? p.(Gly1591Arg,?) Parent #2 - VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0825 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.4771G>A r.spl? p.(Gly1591Arg) Unknown - VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-142 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.4771G>A r.(?) p.(Gly1591Arg) Unknown ACMG VUS g.94487404C>T g.94021848C>T - - ABCA4_000497 ACMG PM5_SUPPORTING, PM1_SUPPORTING, PP2, PP5, BS1, BP6, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-925 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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