Full data view for gene ABCA4


The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C A286G - ABCA4_000224 - PubMed: Papaioannou 2000 - - Germline - ExAC 3, 119734, 0, 0.00002506 - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C AAC 286 GAC - ABCA4_000224 - PubMed: Ducroq 2002 - - Germline - ExAC 3, 119734, 0, 0.00002506 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? France ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Stenirri 2008 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Stenirri 2008 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Maia-Lopes 2009 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Maia-Lopes 2009 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Maia-Lopes 2009 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Ernest 2009 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Ernest 2009 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Zernant 2011 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Maia-Lopes 2008 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. M ? - ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Maia-Lopes 2008 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. M ? - ? - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Maia-Lopes 2008 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. M ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Testa 2012 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Testa 2012 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Testa 2012 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Testa 2012 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C c.[286A>G] - ABCA4_000224 - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: Nõupuu 2014, PubMed: Duncker 2015 Sibling of P2. F ? - white - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C c.[286A>G] - ABCA4_000224 - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: Nõupuu 2014, PubMed: Duncker 2015 Sibling of (P)1. F ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Lambertus 2015 - - Germline ? 3, 119734, 0, 0.00002506 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Lambertus 2015 - - Germline ? 3, 119734, 0, 0.00002506 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - likely pathogenic g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Lambertus 2015 - - Germline ? 3, 119734, 0, 0.00002506 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Iraq - - - - - 1 Stéphanie Cornelis
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - VUS g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: van Huet 2014 - - Germline - 3, 119734, 0, 0.00002506 - - - DNA PE, SEQ - APEX STGD1 - PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 3 c.286A>G r.(286a>g) p.(Asn96Asp) Parent #1 ACMG pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - VUS g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG - gene panel STGD1 P67 PubMed: Hu 2019 - M ? China Asian - - no none 1 Fangyuan Hu
+?/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C g.94111454T>C ABCA4(NM_000350.3):c.286A>G (p.N96D) - ABCA4_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.286A>G r.(?) p.(Asn96Asp) Parent #1 - likely pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic g.94577010T>C - ABCA4(NM_000350.3):c.286A>G (p.N96D) - ABCA4_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic g.94577010T>C - ABCA4(NM_000350.3):c.286A>G (p.N96D) - ABCA4_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C (p.Asn96Asp) - ABCA4_000224 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 12 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 329; 5; T5 PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Olivo 2015PubMed: Melillo 2018 - - Unknown - - - - - DNA ? - - retinal disease Unknown 337 PubMed: Olivo 2015PubMed: Melillo 2018 Possibly a sibling of Unknown 342 M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C N96D - ABCA4_000224 - PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 342; 1; T11 PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 Possibly a sibling of Unknown 337 M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G p.(Asn96Asp) - ABCA4_000224 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease Radboudumc 7 PubMed: Lambertus 2017 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Parent #1 - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G (p.Asn96Asp) - ABCA4_000224 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3824 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G (p.Asn96Asp) - ABCA4_000224 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3174 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286 A>Gc.1798 G>T - ABCA4_000224 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 16 PubMed: Schroeder 2018 - M ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - likely pathogenic (recessive) g.94577010T>C g.94111454T>C p.Asn96Asp - ABCA4_000224 - PubMed: Melillo 2018 - - Unknown - - - - - DNA ? - - retinal disease 22 PubMed: Melillo 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G, p.Asn96Asp - ABCA4_000224 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13098 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G p.Asn96Asp† - ABCA4_000224 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Salles 2018 sibling of patient 6 F yes Brazil - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G p.Asn96Asp† - ABCA4_000224 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Salles 2018 sibling of patient 4 M yes Brazil - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Parent #1 - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.[286A>G] - ABCA4_000224 no variant 2nd chromosome PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P9G6 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 680 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G - ABCA4_000224 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P67 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - likely pathogenic (recessive) g.94577010T>C g.94111454T>C N96D; - ABCA4_000224 - PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease C10 PubMed: Melillo 2020 Likely sibling of T12 M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - likely pathogenic (recessive) g.94577010T>C g.94111454T>C N96D; - ABCA4_000224 - PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease T12 PubMed: Melillo 2020 likely sibling of C10 M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C het c.286A>G p.Asn96Asp - ABCA4_000224 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 78 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G p.(Asn96Asp) - ABCA4_000224 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1100 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C p.N96D - ABCA4_000224 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 9 PubMed: Paavo 2018 - - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C p.N96D - ABCA4_000224 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 21 PubMed: Paavo 2018 - - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Parent #2 - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G p.(Asn96Asp) - ABCA4_000224 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC08262 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Parent #2 - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G p.Asn96Asp - ABCA4_000224 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 47 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G p.(Asn96Asp) - ABCA4_000224 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 15 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C g.94111454T>C c.286A>G p.Asn96Asp het - ABCA4_000224 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-108-042 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C - c.286A>G - ABCA4_000224 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70518 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C - c.286A>G - ABCA4_000224 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70535 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C - c.286A>G(;)5603A>T - ABCA4_000224 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70537 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Unknown - likely pathogenic (recessive) g.94577010T>C - c.286A>G - ABCA4_000224 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70968 PubMed: Khan 2020 - M - Australia - - - - - 1 LOVD
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Parent #1 - likely pathogenic (recessive) g.94577010T>C - c.[286A>G;5603A>T] - ABCA4_000224 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA13-08007 PubMed: Khan 2020 - M - Netherlands - - - - - 1 LOVD
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Maternal (confirmed) ACMG pathogenic (recessive) g.94577010T>C - - - ABCA4_000224 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#3 Bianco 2023, submitted - F no Italy Jordanian - - - - 1 Lorenzo Bianco
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Paternal (confirmed) ACMG pathogenic (recessive) g.94577010T>C - - - ABCA4_000224 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#13 Bianco 2023, submitted - M no Italy - - - - - 2 Lorenzo Bianco
+?/. 3 c.286A>G r.(?) p.(Asn96Asp) Paternal (confirmed) ACMG pathogenic (recessive) g.94577010T>C - - - ABCA4_000224 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#14 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+/. 3 c.286A>G r.(?) p.(Asn96Asp) Parent #1 ACMG pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat72 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 3 c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) ACMG pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat132 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0063 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Parent #1 - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0064 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0106 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0167 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0232 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Parent #1 - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0248 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Parent #1 - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0263 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0276 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0313 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0392 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Parent #1 - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0420 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0554 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Parent #1 - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0584 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Parent #1 - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0636 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Parent #1 - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0705 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0392 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Both (homozygous) - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0554 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Parent #2 - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0808 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.286A>G r.(?) p.(Asn96Asp) Unknown - pathogenic (recessive) g.94577010T>C g.94111454T>C - - ABCA4_000224 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-209 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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