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.

124 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - likely pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Alapati 2014 - - Germline - ExAC 4, 121376, 0, 0.00003296 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - likely pathogenic g.94508386C>T g.94042830C>T c.3259G>A - ABCA4_000642 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline ? ExAC 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? yes France ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Maternal (confirmed) - likely pathogenic g.94508386C>T g.94042830C>T E1087K - ABCA4_000642 - PubMed: Simonelli 2000 - - Germline - ExAC 4, 121376, 0, 0.00003296 - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000 3-generation family, 1 affected M ? Italy Italian, south - - - - 1 Stéphanie Cornelis
?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - VUS g.94508386C>T g.94042830C>T 3259G>A - ABCA4_000642 - PubMed: Klevering 2004 - - Germline - ExAC 4, 121376, 0, 0.00003296 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - VUS g.94508386C>T g.94042830C>T E1087K - ABCA4_000642 - PubMed: Fumagalli 2001 - - Germline - ExAC 4, 121376, 0, 0.00003296 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Maternal (confirmed) - likely pathogenic g.94508386C>T g.94042830C>T 3259G>A - ABCA4_000642 - PubMed: Shroyer 2001 - - Germline yes ExAC 4, 121376, 0, 0.00003296 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Maternal (confirmed) - likely pathogenic g.94508386C>T g.94042830C>T 3259G>A - ABCA4_000642 - PubMed: Shroyer 2001 - - Germline yes ExAC 4, 121376, 0, 0.00003296 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - likely pathogenic g.94508386C>T g.94042830C>T E1087K - ABCA4_000642 - PubMed: Simonelli 2005 - - Germline ? ExAC 4, 121376, 0, 0.00003296 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - VUS g.94508386C>T g.94042830C>T E1087K - ABCA4_000642 - PubMed: Simonelli 2005 - - Germline - ExAC 4, 121376, 0, 0.00003296 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 2 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - likely pathogenic g.94508386C>T g.94042830C>T E1087K/R1898H - ABCA4_000642 - PubMed: Rosenberg 2007 - - Germline ? 4, 121376, 0, 0.00003296 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - likely pathogenic g.94508386C>T g.94042830C>T E1087K - ABCA4_000642 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline - 4, 121376, 0, 0.00003296 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - VUS g.94508386C>T g.94042830C>T c.3259G>A - ABCA4_000642 - PubMed: Stenirri 2008 - - Germline - 4, 121376, 0, 0.00003296 - - - 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
?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - VUS g.94508386C>T g.94042830C>T Glu1087Lys GAA>AAA - ABCA4_000642 - PubMed: Schindler 2010 - - Germline ? 4, 121376, 0, 0.00003296 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - VUS g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys - ABCA4_000642 - PubMed: Roberts 2012 - - Germline - 4, 121376, 0, 0.00003296 - - - 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
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic g.94508386C>T g.94042830C>T p.Glu1087Lys - ABCA4_000642 - PubMed: Fujinami 2013 - - Germline ? 4, 121376, 0, 0.00003296 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - likely pathogenic g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys - ABCA4_000642 - PubMed: Fujinami 2013 - - Germline - 4, 121376, 0, 0.00003296 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic g.94508386C>T g.94042830C>T p.E1087K - ABCA4_000642 - PubMed: Sciezynska 2015 - - Germline ? 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - likely pathogenic g.94508386C>T g.94042830C>T E1087K - ABCA4_000642 - PubMed: Cideciyan 2009 - - Germline - 4, 121376, 0, 0.00003296 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(3259g>a) p.(Glu1087Lys) Parent #1 ACMG pathogenic (recessive) g.94508386C>T g.94042830C>T - - ABCA4_000642 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #1 - pathogenic (recessive) g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamTPatII1 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+?/. - c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - likely pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 801 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.3259G>A r.(?) p.(Glu1087Lys) Parent #2 - likely pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 692 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.3259G>A r.(?) p.(Glu1087Lys) Parent #2 - likely pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 873 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Maternal (confirmed) ACMG pathogenic g.94508386C>T - - - ABCA4_000642 - Mena et al., 2020 submitted - rs61751398 Germline yes - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+?/. - c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - likely pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13013879 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T E1087K - ABCA4_000642 - PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 2 PubMed: Aleman 2007 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #1 - pathogenic (recessive) g.94508386C>T g.94042830C>T p.[Glu1087Lys];c.[5461-10T>C] - ABCA4_000642 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 10 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087Lys) - ABCA4_000642 no variant 2nd chromosome PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 67 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A (p.Glu1087Lys) - ABCA4_000642 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3456 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A Glu1087Lys GAA>AAA - ABCA4_000642 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 801 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T Het NM_000350.2: c.3259G>A; - ABCA4_000642 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259 G>A (hom) - ABCA4_000642 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 32 PubMed: Schroeder 2018 - M ? Sweden - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A,p.Glu1087Lys - ABCA4_000642 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18029 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087*) - ABCA4_000642 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 9 PubMed: Bax 2019 sibling of patient 10 M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087*) - ABCA4_000642 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 10 PubMed: Bax 2019 sibling of patient 9 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087Lys) - ABCA4_000642 - PubMed: Valkenburg 2019PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease P26; Radboudumc 12 PubMed: Valkenburg 2019PubMed: Lambertus 2017 Sibling of P27 M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087Lys) - ABCA4_000642 - PubMed: Valkenburg 2019PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease P27; Radboudumc 13 PubMed: Valkenburg 2019PubMed: Lambertus 2017 Sibling of P28 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys - ABCA4_000642 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1133 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys - ABCA4_000642 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1134 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - pathogenic (recessive) g.94508386C>T g.94042830C>T c.[3259G>A];[3259G>A] p.[E1087K];[E1087K] - ABCA4_000642 - PubMed: Habibi 2020 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease F14 III.3 PubMed: Habibi 2020 - F yes Tunisia - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu108Lys) - ABCA4_000642 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1239 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087Lys) - ABCA4_000642 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1258 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - pathogenic (recessive) g.94508386C>T g.94042830C>T ABCA4 c.3259G>A p.(Glu1087Lys) hom - ABCA4_000642 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13013879 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259C>T p.(Glu1087Lys) - ABCA4_000642 - PubMed: Wang 2019 - - Unknown yes - - - - DNA SEQ-NG-I - OTSP retinal disease #14320 PubMed: Wang 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259C>T p.(Glu1087Lys) - ABCA4_000642 - PubMed: Wang 2019 - - Unknown yes - - - - DNA SEQ-NG-I - OTSP retinal disease #14321 PubMed: Wang 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A/p.E1087K - ABCA4_000642 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 545 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A/p.E1087K - ABCA4_000642 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 565 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Both (homozygous) - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A/p.E1087K - ABCA4_000642 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 688 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys HET - ABCA4_000642 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-249-346 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys het - ABCA4_000642 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-233-387 Prevention Genetics - - ? - England;Ireland - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3022-3738 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3113-3843 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4535-5509 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4807-5826 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 543-1056 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087Lys) - ABCA4_000642 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 62 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087Lys) - ABCA4_000642 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 63 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #2 - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A (p.Glu1087Lys) - ABCA4_000642 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3821 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #2 - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A (p.Glu1087Lys) - ABCA4_000642 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3960 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #2 - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A Glu1087Lys GAA>AAA - ABCA4_000642 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 692 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A Glu1087Lys GAA>AAA - ABCA4_000642 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 873 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys - ABCA4_000642 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease ABCA4-25A PubMed: Smaragda 2018 - F ? Greece - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A,p.Glu1087Lys - ABCA4_000642 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11020 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A,p.Glu1087Lys - ABCA4_000642 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18016 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A,p.Glu1087Lys - ABCA4_000642 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18032 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G.A (p.E1087K) - ABCA4_000642 - PubMed: Collison 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 11 PubMed: Collison 2019 - M ? United States white - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G.A p.Glu1087Lys - ABCA4_000642 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P10 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G.A; p.Q1087K - ABCA4_000642 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 19 PubMed: Khan 2019 - M ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.(Glu1087Lys) - ABCA4_000642 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0864 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys - ABCA4_000642 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0317 PubMed: Georgiou 2019 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys het - ABCA4_000642 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2012-326-038 Prevention Genetics - - ? - Lebanon - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys het - ABCA4_000642 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2020-127-110 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A p.Glu1087Lys het - ABCA4_000642 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2020-197-115 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 11-664 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1547-2128 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3260-4000 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ - - retinal disease 4270-6070 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5050-7004 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T c.3259G>A, p.Glu1087Lys Heterozygous - ABCA4_000642 - PubMed: Goetz 2020 - - Unknown - 4, 121376, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5732-6956 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.3259G>A r.(?) p.(Glu1087Lys) Unknown ACMG VUS g.94508386C>T g.94042830C>T allele 1: c.3259G>A/E1087K, allele 2: c.5917del/p.V1973* - ABCA4_000642 heterozygous PubMed: Weisschuh 2018 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 20 PubMed: Weisschuh 2018 - M - Germany - - - - - 1 LOVD
+?/. - c.3259G>A r.(?) p.(Glu1087Lys) Unknown ACMG likely pathogenic g.94508386C>T g.94042830C>T GUCA1A c.149C>T, p.(Pro50Leu), ABCA4 c.5882G>A(,), 3259G>A, p.(Gly1961Glu,Glu1087Lys) - ABCA4_000642 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 141 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Maternal (confirmed) ACMG pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Tracewska 2019 - - Germline yes 0,0002 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 377 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T - c.3259G>A, p.Glu1087Lys - ABCA4_000642 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 47 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T - c.3259G>A - ABCA4_000642 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70587 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T - c.3259G>A - ABCA4_000642 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70837 PubMed: Khan 2020 - F - New Zealand - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T - c.3259G>A - ABCA4_000642 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70838 PubMed: Khan 2020 - F - New Zealand - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T - c.3259G>A - ABCA4_000642 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70842 PubMed: Khan 2020PubMed: Hull 2020 - M - New Zealand - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T - c.3259G>A - ABCA4_000642 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71213 PubMed: Khan 2020 - M - United States - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T - c.3259G>A - ABCA4_000642 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA14-32910 PubMed: Khan 2020 - M - Netherlands - - - - - 1 LOVD
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #2 - pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Huang 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - retinal disease Fam35Pat1 PubMed: Huang 2022 2-generation family, 2 affected - - Australia - - - - - 2 Johan den Dunnen
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #2 - pathogenic g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Fam35Pat2 PubMed: Huang 2022 relative - - Australia - - - - - 1 Johan den Dunnen
+?/. - c.3259G>A r.(?) p.(Glu1087Lys) Unknown - likely pathogenic g.94508386C>T g.94042830C>T ABCA4 - Glu1087Lys GAA > AAA - EPP = 3 - ABCA4_000642 heterozygous PubMed: Cohen 2013 - - Germline/De novo (untested) ? - - - - DNA ? - - STGD1 ? PubMed: Cohen 2013 - F - - - - - - - 1 LOVD
+?/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Maternal (confirmed) ACMG pathogenic (recessive) g.94508386C>T - - - ABCA4_000642 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#10 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #1 ACMG pathogenic (recessive) g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat329 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 22 c.3259G>A r.(?) p.(Glu1087Lys) Parent #2 ACMG pathogenic (recessive) g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat51 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.3259G>A r.(?) p.(Glu1087Lys) Parent #1 - pathogenic (recessive) g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0021 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.3259G>A r.(?) p.(Glu1087Lys) Parent #1 - VUS g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0070 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3259G>A r.(?) p.(Glu1087Lys) Unknown - pathogenic (recessive) g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0088 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3259G>A r.(?) p.(Glu1087Lys) Parent #1 - pathogenic (recessive) g.94508386C>T g.94042830C>T - - ABCA4_000642 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0220 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
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