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.

151 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+/. 14 c.2041C>T r.(?) p.(Arg681*) Maternal (confirmed) - pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: González-del Pozo 2014 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease RP19PatII2 PubMed: González-del Pozo 2014 2-generation family, 3 affected, 4 carriers F no Spain Spanish - - - - 3 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Maternal (confirmed) - pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: González-del Pozo 2014 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease RP19PatII4 PubMed: González-del Pozo 2014 brother M no Spain Spanish - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Maternal (confirmed) - pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: González-del Pozo 2014 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease RP19PatII6 PubMed: González-del Pozo 2014 sister F no Spain Spanish - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Both (homozygous) - pathogenic g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 - PubMed: Zhao 2015 - - Germline yes ExAC 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Zhao 2015 - ? ? Northern Ireland ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A CGA > TGA - ABCA4_000075 - PubMed: Briggs 2001 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely benign g.94526212G>A g.94060656G>A R861X - ABCA4_000075 - PubMed: Rivera 2000 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Rivera 2000 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Rivera 2000 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Rivera 2000 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A 2041C>T - ABCA4_000075 - PubMed: Webster 2001 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - 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
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A 2041C>T - ABCA4_000075 - PubMed: Webster 2001 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - 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
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 120836, 0, 0.00002483 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Rosenberg 2007 - - Germline ? 3, 120836, 0, 0.00002483 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Rosenberg 2007 - - Germline ? 3, 120836, 0, 0.00002483 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Rosenberg 2007 - - Germline ? 3, 120836, 0, 0.00002483 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic g.94526212G>A g.94060656G>A Arg681Stop CGA>TGA - ABCA4_000075 - PubMed: Schindler 2010 - - Germline ? 3, 120836, 0, 0.00002483 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A Arg681Stop CGA>TGA - ABCA4_000075 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 3, 120836, 0, 0.00002483 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A Arg681Stop CGA>TGA - ABCA4_000075 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 3, 120836, 0, 0.00002483 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681* - ABCA4_000075 - PubMed: Roberts 2012 - - Germline - 3, 120836, 0, 0.00002483 - - - 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
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681* - ABCA4_000075 - PubMed: Roberts 2012 - - Germline - 3, 120836, 0, 0.00002483 - - - 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
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681* - ABCA4_000075 - PubMed: Roberts 2012 - - Germline - 3, 120836, 0, 0.00002483 - - - 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
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 - PubMed: Riveiro-Alvarez 2013 - - Germline - 3, 120836, 0, 0.00002483 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 120836, 0, 0.00002483 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 120836, 0, 0.00002483 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 120836, 0, 0.00002483 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - VUS g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 - PubMed: Bauwens 2014 - - Germline - 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-I, PCR, SEQ - - macular dystrophy - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Cideciyan 2009 - - Germline - 3, 120836, 0, 0.00002483 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Cideciyan 2009 - - Germline - 3, 120836, 0, 0.00002483 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(2041c>u) p.(Arg681Ter) Parent #1 ACMG pathogenic (recessive) g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2041C>T r.(?) p.(Arg681Ter) Unknown - pathogenic g.94526212G>A g.94060656G>A ABCA4(NM_000350.3):c.2041C>T (p.R681*) - ABCA4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2041C>T r.(?) p.(Arg681Ter) Unknown - pathogenic g.94526212G>A g.94060656G>A ABCA4(NM_000350.3):c.2041C>T (p.R681*) - ABCA4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2041C>T r.(?) p.(Arg681*) Parent #1 - likely pathogenic (recessive) g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Holtan 2020 - - Germline - 7/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 7 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 7 Global Variome, with Curator vacancy
+/. - c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A - 1:94526212G>A ENST00000370225.3:c.2041C>T (Arg681Ter) - ABCA4_000075 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240012 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 14 c.2041C>T r.(?) p.(Arg681*) Parent #1 - pathogenic (recessive) g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat69 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681*) Unknown - likely pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 774 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681*) Parent #1 - likely pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 771 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681*) Parent #1 - likely pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 772 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681*) Parent #1 - likely pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 773 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2041C>T r.(?) p.(Arg681*) Parent #2 - likely pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 654 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown ACMG pathogenic g.94526212G>A - - - ABCA4_000075 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F - Argentina - - - - - 1 Marcela Mena
+?/. - c.2041C>T r.(?) p.(Arg681Ter) Parent #1 - likely pathogenic g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/34 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+/. - c.2041C>T r.(?) p.(Arg681*) Parent #2 - pathogenic (recessive) g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71927 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A p.Arg681* - ABCA4_000075 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 69 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A R681X - ABCA4_000075 no variant 2nd chromosome PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 31 PubMed: Scholl 2001 - M no Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A R681X - ABCA4_000075 - PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 11 PubMed: Aleman 2007 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A R681X - ABCA4_000075 no variant 2nd chromosome PubMed: Reinhard 2007 - - Unknown - - - - - DNA DGGE, DHPLC, SSCA - - retinal disease 22 PubMed: Reinhard 2007 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A Arg681Ter - ABCA4_000075 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 107 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Both (homozygous) - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 - PubMed: Chouchene 2013 - - Germline - - - - - DNA SEQ - exon 14 retinal disease F1/V:2 PubMed: Chouchene 2013 - F yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Both (homozygous) - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 - PubMed: Chouchene 2013 - - Germline - - - - - DNA SEQ - exon 14 retinal disease F7/IV:1 PubMed: Chouchene 2013 - M yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T p.(R681*) - ABCA4_000075 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 425 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C.T - ABCA4_000075 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 8 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C.T - ABCA4_000075 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 7 PubMed: Klufas 2017 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.[2041C>T;2588G>C] (p.[Arg681*;Gly863Ala]) - ABCA4_000075 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4514 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T (p.Arg681*) - ABCA4_000075 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3136 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T (p.Arg681*) - ABCA4_000075 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3944 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T Arg681Stop CGA>TGA - ABCA4_000075 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 771 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T Arg681Stop CGA>TGA - ABCA4_000075 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 772 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Parent #1 - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T Arg681Stop CGA>TGA - ABCA4_000075 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 773 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Parent #1 - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T Arg681Stop CGA>TGA - ABCA4_000075 no variant 2nd chromosome PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 774 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Both (homozygous) - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681Ter - ABCA4_000075 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13007 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Both (homozygous) - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681Ter - ABCA4_000075 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13070 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681Ter - ABCA4_000075 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15098 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Parent #1 - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C?>?T Arg681Ter - ABCA4_000075 - PubMed: Riera 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fi15/34 PubMed: Riera 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041 C>T - ABCA4_000075 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 666 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041 C>T - ABCA4_000075 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 667 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041 C>T - ABCA4_000075 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 668 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041 C>T - ABCA4_000075 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 669 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041 C>T - ABCA4_000075 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 670 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041 C>T - ABCA4_000075 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 671 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041 C>T - ABCA4_000075 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 672 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T (p.Arg681Xaa - ABCA4_000075 - PubMed: Reich 2019 - - Unknown - - - - - DNA ? - - retinal disease 2 PubMed: Reich 2019 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A het c.2041C>T p.Arg681* - ABCA4_000075 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T p.(Arg681*) - ABCA4_000075 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0717 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Both (homozygous) - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T p.(Arg681*) - ABCA4_000075 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0746 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T p.(Arg681*) - ABCA4_000075 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0759 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T/p.R681* - ABCA4_000075 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 170 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T/p.R681* - ABCA4_000075 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 326 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T/p.R681* - ABCA4_000075 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 340 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T - ABCA4_000075 no variant 2nd chromosome PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 8 PubMed: Alabduljalil 2019 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A p.R681* - ABCA4_000075 no variant 2nd chromosome PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 27 PubMed: Chen 2019 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T p.Arg681* het - ABCA4_000075 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2012-200-017 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T p.Arg681* het - ABCA4_000075 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2015-016-027 Prevention Genetics - - ? - Irish, English - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T p.Arg681* het - ABCA4_000075 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-163-039 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681* Heterozygous - ABCA4_000075 - PubMed: Goetz 2020 - - Unknown - 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1098-2529 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681Stop Heterozygous - ABCA4_000075 - PubMed: Goetz 2020 - - Unknown - 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2814-4391 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681Stop Heterozygous - ABCA4_000075 - PubMed: Goetz 2020 - - Unknown - 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2825-4433 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681Stop Heterozygous - ABCA4_000075 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2891-4476 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681Stop Heterozygous - ABCA4_000075 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3370-4122 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T, p.Arg681Stop Heterozygous - ABCA4_000075 - PubMed: Goetz 2020 - - Unknown - 3, 120836, 0, 0.00002483 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3926-4782 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.2041C>T Arg681Stop CGA>TGA - ABCA4_000075 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 654 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Paternal (inferred) - pathogenic (recessive) g.94526212G>A g.94060656G>A p. [R681*] - ABCA4_000075 - PubMed: Falfoul 2018 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease FamPatIII8 PubMed: Falfoul 2018 sibling and cousin of the other patients in this family, consanguinous F yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Paternal (inferred) - pathogenic (recessive) g.94526212G>A g.94060656G>A p. [R681*] - ABCA4_000075 - PubMed: Falfoul 2018 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease FamPatIII10 PubMed: Falfoul 2018 sibling and cousin of the other patients in this family, consanguinous M yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A c.[70C>T(;)2041C>T] (p.[Arg24Cys(;)Arg681?]) - ABCA4_000075 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 24 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Maternal (confirmed) - pathogenic (recessive) g.94526212G>A g.94060656G>A NM_000350.2:c.2041C>T:p.Arg681* - ABCA4_000075 - PubMed: Tiwari 2016 - - Unknown yes - - - - DNA SEQ-NG - WES retinal disease 71927 PubMed: Tiwari 2016 - F ? Switzerland - - - - - 1 Stéphanie Cornelis
+/. 14 c.2041C>T r.(?) p.(Arg681*) Unknown - pathogenic (recessive) g.94526212G>A g.94060656G>A ENST00000370225.3:c.2041C>T p.Arg681Ter 0/1 - ABCA4_000075 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease B240012 PubMed: Carss 2017 - M ? England - - - - - 1 Stéphanie Cornelis
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.