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.

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

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AscendingDNA change (cDNA)     

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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     

dbSNP ID     

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ID_report     

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?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - VUS g.94508322C>T g.94042766C>T 3323G>A - ABCA4_000128 - PubMed: Webster 2001 - - Germline - ExAC 2, 121288, 0, 0.00001649 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - VUS g.94508322C>T g.94042766C>T CGC 3323 TGC AGT 6764 ATT - ABCA4_000128 - PubMed: Ducroq 2002 - - Germline ? - - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? France ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic g.94508322C>T g.94042766C>T R1108H(3323G>A) - ABCA4_000128 - PubMed: Stenirri 2004 - - Germline - ExAC 2, 121288, 0, 0.00001649 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - VUS g.94508322C>T g.94042766C>T c.3323G>A - ABCA4_000128 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline - 2, 121288, 0, 0.00001649 - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
-?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely benign g.94508322C>T g.94042766C>T Arg1108His - ABCA4_000128 - PubMed: Chen 2011 - - Germline - 2, 121288, 0, 0.00001649 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - VUS g.94508322C>T g.94042766C>T p.Arg1108His - ABCA4_000128 - PubMed: Fujinami 2013 - - Germline - 2, 121288, 0, 0.00001649 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic g.94508322C>T g.94042766C>T c.3323G>A - ABCA4_000128 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 2, 121288, 0, 0.00001649 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - pathogenic g.94508322C>T g.94042766C>T c.3323G>A - ABCA4_000128 - PubMed: Riveiro-Alvarez 2013 - - Germline - 2, 121288, 0, 0.00001649 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic g.94508322C>T g.94042766C>T c.3323G>A - ABCA4_000128 - PubMed: Riveiro-Alvarez 2013 - - Germline - 2, 121288, 0, 0.00001649 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - VUS g.94508322C>T g.94042766C>T c.3323G>A, p.Arg1108His - ABCA4_000128 - PubMed: Fujinami 2013 - - Germline - 2, 121288, 0, 0.00001649 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - VUS g.94508322C>T g.94042766C>T c.3323G>A, p.Arg1108His - ABCA4_000128 - PubMed: Fujinami 2013 - - Germline - 2, 121288, 0, 0.00001649 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic g.94508322C>T g.94042766C>T p.R1108H - ABCA4_000128 - PubMed: Burke 2014 - - Germline ? 2, 121288, 0, 0.00001649 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - M ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic g.94508322C>T g.94042766C>T p.R1108H - ABCA4_000128 - PubMed: Burke 2014 - - Germline ? 2, 121288, 0, 0.00001649 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - M ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+/. 22 c.3323G>A r.(3323g>a) p.(Arg1108His) Parent #1 ACMG pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - likely pathogenic g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #2 - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS19PatII-3 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - VUS g.94508322C>T g.94042766C>T - - ABCA4_000128 - 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.3323G>A r.(?) p.(Arg1108His) Parent #2 - likely pathogenic g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 687 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.3323G>A r.(?) p.(Arg1108His) Parent #2 - likely pathogenic g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 734 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.3323G>A r.(?) p.(Arg1108His) Parent #2 - likely pathogenic g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 758 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown ACMG likely pathogenic g.94508322C>T - - - ABCA4_000128 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F no Argentina - - - - - 1 Marcela Mena
?/. - c.3323G>A r.(?) p.(Arg1108His) Unknown - VUS g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat22 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T p.R1108H - ABCA4_000128 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10139 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T Arg1108His - ABCA4_000128 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 64 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T R1108H - ABCA4_000128 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 12 PubMed: Burke 2011 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T p.R1108H, - ABCA4_000128 - PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P9 PubMed: Duncker 2013 - M no United States white - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A (p.Arg1108His) - ABCA4_000128 - PubMed: Verdina 2012 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease MS PubMed: Verdina 2012 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T p.Arg1108His c.3323G>A - ABCA4_000128 - PubMed: Tsipi 2016 - - Unknown yes - - - - DNA SEQ - - retinal disease 22 PubMed: Tsipi 2016 - F ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A (p.Arg1108His) - ABCA4_000128 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3211 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A (p.Arg1108His) - ABCA4_000128 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3252 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A (p.Arg1108His) - ABCA4_000128 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3126 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A (p.Arg1108His) - ABCA4_000128 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Y423 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A,p.Arg1108His - ABCA4_000128 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14044 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A,p.Arg1108His - ABCA4_000128 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14050 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A p.(Arg1108His) - ABCA4_000128 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67206 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A - ABCA4_000128 no variant 2nd chromosome PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1052 PubMed: Hu 2019 - - ? China China - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A;p.Arg1018His - ABCA4_000128 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 43. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.G3323A A1108H - ABCA4_000128 - PubMed: Raj 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 27 PubMed: Raj 2020 - - yes India India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka) - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T (p.Arg1108His) - ABCA4_000128 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 10 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T R1108H - ABCA4_000128 - PubMed: Wiszniewski 2005 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 11 PubMed: Wiszniewski 2005 - - no United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A [(p.Arg1108His);c.4297G>A (p.Val1433Ile)] - ABCA4_000128 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 21 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #2 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A Arg1108His CGC>CAC - ABCA4_000128 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 687 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #2 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A Arg1108His CGC>CAC - ABCA4_000128 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 734 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A Arg1108His CGC>CAC - ABCA4_000128 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 758 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #2 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A p.(Arg1108His) - ABCA4_000128 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC07748 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #2 - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.G3323A A1108H - ABCA4_000128 - PubMed: Raj 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 27 PubMed: Raj 2020 - - yes India India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka) - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Paternal (confirmed) - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A p.(Arg1108His) Exon22 Het - ABCA4_000128 - PubMed: Hu 2020PubMed: Hu 2019 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease F7:?:1 ; P19 PubMed: Hu 2020PubMed: Hu 2019 - M no China China - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3322C>T(;)3323G>A - ABCA4_000128 - PubMed: Green 2020 - - Germline - - - - - DNA SEQ - exons and flanking intronic regions retinal disease S19:II-3 PubMed: Green 2020 - - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A p.(Arg1108His) - ABCA4_000128 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 15 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A p.(Arg1108His) - ABCA4_000128 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 39 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A, p.Arg1108His Heterozygous - ABCA4_000128 - PubMed: Goetz 2020 - - Unknown - 2, 121288, 0, 0.00001649 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1457-2000 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T g.94042766C>T c.3323G>A, p.Arg1108His heterozygous - ABCA4_000128 - PubMed: Goetz 2020 - - Unknown - 2, 121288, 0, 0.00001649 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 432-931 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Unknown - likely pathogenic (recessive) g.94508322C>T - c.3323G>A, p.Arg1108His - ABCA4_000128 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 55 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.3323G>A r.(?) p.(Arg1108His) Parent #1 - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Maternal (confirmed) ACMG likely pathogenic (recessive) g.94508322C>T - c.[3323G>A; 4297G>A], p.[(Arg1108His;Val1433Ile)] - ABCA4_000128 Complex allele Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#27 Bianco 2023, submitted - F no Italy - - - - - 2 Lorenzo Bianco
+?/. 22 c.3323G>A r.(?) p.(Arg1108His) Maternal (confirmed) ACMG likely pathogenic (recessive) g.94508322C>T - c.[3323G>A; 4297G>A], p.[(Arg1108His;Val1433Ile)] - ABCA4_000128 Complex allele Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#61 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 ACMG pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat44 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #1 ACMG pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat258 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #2 ACMG pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat241 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 22 c.3323G>A r.(?) p.(Arg1108His) Parent #2 ACMG pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat242 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.3323G>A r.(?) p.(Arg1108His) Parent #1 - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0188 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Unknown - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0394 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Parent #1 - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0418 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Unknown - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0135 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Unknown - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0410 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Unknown - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0528 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Parent #2 - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0626 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Unknown - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0959 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Parent #2 - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1007 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3323G>A r.(?) p.(Arg1108His) Unknown - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-70 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3323G>A r.(?) p.(Arg1108His) Unknown - pathogenic (recessive) g.94508322C>T g.94042766C>T - - ABCA4_000128 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-400 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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