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.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T GTC > GAG - ABCA4_000736 - PubMed: Briggs 2001 - - Germline - ExAC 1, 119332, 0, 0.00000838 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely benign g.94522239A>T g.94056683A>T GTC > GAG - ABCA4_000736 - PubMed: Briggs 2001 - - Germline - ExAC 1, 119332, 0, 0.00000838 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic g.94522239A>T g.94056683A>T V767D - ABCA4_000736 - PubMed: Simonelli 2000, PubMed: Testa 2012 - - Germline ? ExAC 1, 119332, 0, 0.00000838 - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000, PubMed: Testa 2012 3-generation family, 1 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T 2300T>A - ABCA4_000736 - PubMed: Klevering 2004 - - Germline ? ExAC 1, 119332, 0, 0.00000838 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - VUS g.94522239A>T g.94056683A>T 2300T>A - ABCA4_000736 - PubMed: Webster 2001 - - Germline - ExAC 1, 119332, 0, 0.00000838 - - - 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
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - VUS g.94522239A>T g.94056683A>T 2300T>A - ABCA4_000736 - PubMed: Webster 2001 - - Germline - ExAC 1, 119332, 0, 0.00000838 - - - 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
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T V767D - ABCA4_000736 - PubMed: Shroyer 2001 - - Germline - ExAC 1, 119332, 0, 0.00000838 - - - DNA PCR, SEQ - - retinal disease - PubMed: Shroyer 2001 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T V767D - ABCA4_000736 - PubMed: Shroyer 2001 - - Germline - ExAC 1, 119332, 0, 0.00000838 - - - DNA PCR, SEQ - - retinal disease - PubMed: Shroyer 2001 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic g.94522239A>T g.94056683A>T Val767Asp - ABCA4_000736 - PubMed: Fishman 2003 - - Germline ? ExAC 1, 119332, 0, 0.00000838 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic g.94522239A>T g.94056683A>T V767D - ABCA4_000736 - PubMed: Simonelli 2005 - - Germline - ExAC 1, 119332, 0, 0.00000838 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 2 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - VUS g.94522239A>T g.94056683A>T 2300T>A - ABCA4_000736 - PubMed: Valverde 2007 - - Germline - 1, 119332, 0, 0.00000838 - - - DNA PCR, PE, SEQ, DHPLC - APEX retinal disease - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - VUS g.94522239A>T g.94056683A>T c.2300T>A - ABCA4_000736 - PubMed: Rosenberg 2007 - - Germline - 1, 119332, 0, 0.00000838 - - - 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. ? no - ? - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic g.94522239A>T g.94056683A>T V767D - ABCA4_000736 - PubMed: Passerini 2010 - - Germline ? 1, 119332, 0, 0.00000838 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic g.94522239A>T g.94056683A>T V767D - ABCA4_000736 - PubMed: Passerini 2010, PubMed: Sodi 2010, PubMed: Testa 2012 - - Germline - 1, 119332, 0, 0.00000838 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T Val767Asp GTC->GAC - ABCA4_000736 - PubMed: Schindler 2010 - - Germline ? 1, 119332, 0, 0.00000838 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - VUS g.94522239A>T g.94056683A>T V767D - ABCA4_000736 found no variant 2nd chromosome PubMed: Burke 2010 - - Germline - 1, 119332, 0, 0.00000838 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic g.94522239A>T g.94056683A>T c.2300T>A - ABCA4_000736 - PubMed: Zernant 2011 - - Germline - 1, 119332, 0, 0.00000838 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic g.94522239A>T g.94056683A>T c.2300T>A - ABCA4_000736 - PubMed: Duno 2012 - - Germline ? 1, 119332, 0, 0.00000838 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - VUS g.94522239A>T g.94056683A>T c.2300T>A, p.Val767Asp - ABCA4_000736 - PubMed: Roberts 2012 - - Germline - 1, 119332, 0, 0.00000838 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T Val767Asp - ABCA4_000736 - PubMed: Oldani 2012 - - Germline ? 1, 119332, 0, 0.00000838 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - VUS g.94522239A>T g.94056683A>T c.2300T>A - ABCA4_000736 - PubMed: Miraldi 2014 - - Germline ? 1, 119332, 0, 0.00000838 - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - VUS g.94522239A>T g.94056683A>T c.2300T>A - ABCA4_000736 - PubMed: Bauwens 2014 - - Germline - 1, 119332, 0, 0.00000838 - - - DNA SEQ-NG-I, PCR, SEQ - - macular dystrophy - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 15 c.2300T>A r.(?) p.(Val767Asp) Maternal (inferred) - VUS g.94522239A>T g.94056683A>T p.[Y245*;V767D] - ABCA4_000736 - PubMed: Duncker 2015 - - Germline - - - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Maternal (confirmed) - likely pathogenic g.94522239A>T g.94056683A>T c.2300T>A - ABCA4_000736 - PubMed: Müller 2015 - - Germline ? 1, 119332, 0, 0.00000838 - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(2300u>a) p.(Val767Asp) Parent #1 ACMG pathogenic (recessive) g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #2 - pathogenic (recessive) g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat31 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 781 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 782 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 780 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #2 - pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD050 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #2 - pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD055 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #2 - pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD077 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T Val767Asp - ABCA4_000736 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 199 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A p.V767D - ABCA4_000736 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA PE - APEX retinal disease D116 PubMed: Bertelsen 2014 - M ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T E15 c.2300T>A (p.Val767Asp) - ABCA4_000736 - PubMed: Müller 2017PubMed: Gliem 2020 - - Unknown yes - - - - DNA ? - - retinal disease 1; 47 PubMed: Müller 2017PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300 T>A - ABCA4_000736 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 1 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A p.(V767D) - ABCA4_000736 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 428 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A Val767Asp GTC>GAC - ABCA4_000736 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 780 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A Val767Asp GTC>GAC - ABCA4_000736 no variant 2nd chromosome; no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 781 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A Val767Asp GTC>GAC - ABCA4_000736 no variant 2nd chromosome PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 782 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T Het NM_000350: c.2300T>A: - ABCA4_000736 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A,p.Val767Asp - ABCA4_000736 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18021 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A,p.Val767Asp - ABCA4_000736 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19008 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.[2300T>A] - ABCA4_000736 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P10T2 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A p.(Val767Asp) - ABCA4_000736 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66713 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T E15 c.2300T>A/p.(Val767Asp) E42 c.5882G>A/p.(Gly1961Glu) - ABCA4_000736 - PubMed: Müller 2019PubMed: Müller 2020PubMed: Müller 2020 - - Unknown - - - - - DNA ? - - retinal disease 12; 16; 39 PubMed: Müller 2019PubMed: Müller 2020PubMed: Müller 2020 - F ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A p.(Val767Asp) - ABCA4_000736 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0279 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A p.(Val767Asp) - ABCA4_000736 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0619 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Both (homozygous) - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A/p.V767D - ABCA4_000736 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 723 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A/p.V767D - ABCA4_000736 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 203 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A p.(Val767Asp) - ABCA4_000736 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 13 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A, p.Val767Asp Heterozygous - ABCA4_000736 - PubMed: Goetz 2020 - - Unknown - 1, 119332, 0, 0.00000838 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1372-1907 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A, p.Val767Asp Heterozygous - ABCA4_000736 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 119332, 0, 0.00000838 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3859-4739 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A, p.Val767Asp Heterozygous - ABCA4_000736 - PubMed: Goetz 2020 - - Unknown - 1, 119332, 0, 0.00000838 - - - DNA SEQ - - retinal disease 4105-4995 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T p.Val767Asp - ABCA4_000736 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 31 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T val767asp, heterozygous - ABCA4_000736 - PubMed: Pasadhika 2009 - - Unknown - - - - - DNA SSCA, SEQ - - retinal disease 2 PubMed: Pasadhika 2009 - F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.[735T>G;2300T>A] (p.[Tyr245*;Val767Asp]) - ABCA4_000736 no variant 2nd chromosome PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3032 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 - likely pathogenic (recessive) g.94522239A>T g.94056683A>T p.[Y245*/V767D] - ABCA4_000736 no variant 2nd chromosome PubMed: Tanaka 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Tanaka 2018 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A,p.Val767Asp - ABCA4_000736 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17011 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T.A p.Val767Asp - ABCA4_000736 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P13 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T C7671>A; p.Val767Asp - ABCA4_000736 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 4. PubMed: Piccardi 2019 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A - ABCA4_000736 - PubMed: Bernardis 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease IRD050 PubMed: Bernardis 2016 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A - ABCA4_000736 - PubMed: Bernardis 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease IRD055 PubMed: Bernardis 2016 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A p.Val767Asp Het - ABCA4_000736 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2016-165-068 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A p.Val767Asp Het - ABCA4_000736 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-149-204 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A, p.Val767Asp Heterozygous - ABCA4_000736 - PubMed: Goetz 2020 - - Unknown - 1, 119332, 0, 0.00000838 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1405-1973 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic (recessive) g.94522239A>T g.94056683A>T c.2300T>A, p.Val767Asp Heterozygous - ABCA4_000736 - PubMed: Goetz 2020 - - Unknown - 1, 119332, 0, 0.00000838 - - - DNA SEQ - - retinal disease 3633-5316 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 15 c.2300T>A r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T ABCA4 Ex.15 c.2300T>A p.(Val767Asp), IVS41 c.5836-1G>C p.(?) - ABCA4_000736 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2028 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #2 - pathogenic g.94522239A>T - c.2300T>A - ABCA4_000736 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.2300T>A r.(?) p.(Val767Asp) Parent #1 - pathogenic (recessive) g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0519 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2300T>A r.(?) p.(Val767Asp) Parent #1 - pathogenic (recessive) g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0790 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2300T>A r.(?) p.(Val767Asp) Parent #1 - pathogenic (recessive) g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0946 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic (recessive) g.94522239A>T g.94056683A>T - - ABCA4_000736 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1055 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2300T>A r.(?) p.(Val767Asp) Unknown - pathogenic (recessive) g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-243 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 ACMG pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071829 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 15 c.2300T>A r.(?) p.(Val767Asp) Parent #1 ACMG pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073399 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.6245C>T r.(?) p.(Val767Asp) Unknown - likely pathogenic g.94522239A>T g.94056683A>T - - ABCA4_000736 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 780 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 45 c.6245C>T r.(?) p.(Ala2082Val) Unknown - likely pathogenic (recessive) g.94467451G>A g.94001895G>A c.6245C>T - ABCA4_000736 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 780 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6245C>T r.(?) p.(Ala2082Val) Unknown ACMG VUS g.94467451G>A g.94001895G>A - - ABCA4_000736 ACMG PM2_sup, PP3_m; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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