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.

148 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     
+/+ 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-R - - CORD - PubMed: Sciezyiska 2015 - - - Poland - - - - - 1 Monika Oldak
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A 4200C>A - ABCA4_000111 - PubMed: Maugeri 1999 - - Germline ? - - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Maternal (confirmed) - VUS g.94496571G>A g.94031015G>A c.4234C>T - ABCA4_000111 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline ? - - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? ? France ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A Q1412X - ABCA4_000111 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A G65E - ABCA4_000111 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A Q1412X - ABCA4_000111 - PubMed: Rivera 2000 - - Germline yes - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic g.94496571G>A g.94031015G>A Q1412X - ABCA4_000111 - PubMed: Rivera 2000 - - Germline yes - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A Q1412X - ABCA4_000111 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A 4234C>T - ABCA4_000111 - PubMed: Webster 2001 - - Germline - - - - - 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
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A c.4234C>T - ABCA4_000111 - PubMed: Kitiratschky 2008 - - Germline ? - - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A Q1412X - ABCA4_000111 - PubMed: Rosenberg 2007 - - Germline ? - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A Gln1412Stop CAG>TAG - ABCA4_000111 - PubMed: Schindler 2010 - - Germline - - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A Glu1412Stop - ABCA4_000111 - PubMed: Chen 2011 - - Germline - - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A c.4234C>T - ABCA4_000111 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A c.4234C>T - ABCA4_000111 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Burke 2014, PubMed: Duncker 2015 - - Germline ? - - - - DNA PE, SEQ, SEQ-NG-R - APEX ? - PubMed: Burke 2014, PubMed: Duncker 2015 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A c.4234C>T - ABCA4_000111 - PubMed: Kousal 2014 - - Germline - - - - - DNA PE - APEX STGD1 - PubMed: Kousal 2014 1-generation family, 2 affected M ? Czech Republic ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline ? - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline ? - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - likely pathogenic g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - VUS g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Paternal (confirmed) - likely pathogenic g.94496571G>A g.94031015G>A c.4234C>T - ABCA4_000111 - PubMed: Müller 2015 - - Germline - - - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(4234c>u) p.(Gln1412Ter) Parent #1 ACMG pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4234C>T r.(?) p.(Gln1412Ter) Unknown - pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamZPatII1 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #2 - likely pathogenic g.94496571G>A - 4234C>T (Q1412X) - ABCA4_000111 - PubMed: Scholl 2001 - - Germline yes - - - - DNA SSCA, SEQ, DGGE - - retinal disease - PubMed: Scholl 2001 - F - - - - - - - 1 Julia Lopez
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat1 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat32 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat64 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #2 - pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat11 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #2 - pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat16 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat66 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.4234C>T r.(?) p.(Gln1412*) Parent #2 - likely pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 773 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4234C>T r.(?) p.(Gln1412*) Parent #2 - likely pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 803 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.4234C>T r.(?) p.(Gln1412Ter) Parent #1 - likely pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Perez-Carro 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP-1543 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A p.Gln1412* - ABCA4_000111 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 1 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A p.Gln412Tyr - ABCA4_000111 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 32 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A p.Glu1412* - ABCA4_000111 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 64 PubMed: Birtel 2018 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A Q1412X - ABCA4_000111 - PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 33 PubMed: Scholl 2001 - M no Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A Q1412X - ABCA4_000111 no variant 2nd chromosome PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 47 PubMed: Scholl 2001 - M no Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C > T - ABCA4_000111 - PubMed: Perez-Carro 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP-1543 PubMed: Perez-Carro 2016 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T p.(Q1412*) - ABCA4_000111 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 467 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T (p.Gln1415*) - ABCA4_000111 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3233 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T (p.Gln1415*) - ABCA4_000111 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3382 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T (p.Gln1415*) - ABCA4_000111 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9007 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T (p.Gln1415*) - ABCA4_000111 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4512 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T,p.Gln1412Ter - ABCA4_000111 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12005 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T# p.(Gln1412*) - ABCA4_000111 - PubMed: Runhart 2018 - - Unknown - - - - - DNA PCRh, SEQ - Haloplex retinal disease Z-II:1 PubMed: Runhart 2018 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T - ABCA4_000111 no variant 2nd chromosome PubMed: Light 2017 - - Unknown - - - - - DNA ? - - retinal disease P20 PubMed: Light 2017 - F ? United States white - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A het c.4234C>T p.Glu1412* - ABCA4_000111 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A het c.4234C>T p.Gln412Tyr - ABCA4_000111 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A het c.4234C>T p.Glu1412* - ABCA4_000111 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A het c.4234C>T p.Gln1412* - ABCA4_000111 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 69 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T/p.Q1412* - ABCA4_000111 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 588 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>R/p.Q1412* - ABCA4_000111 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 270 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T/p.Q1412* - ABCA4_000111 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 350 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T/p.Q1412* - ABCA4_000111 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 361 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T - ABCA4_000111 no variant 2nd chromosome PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 20 PubMed: Alabduljalil 2019 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T, p.Gln1412Stop Heterozygous - ABCA4_000111 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 3459-4214 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic (recessive) g.94496571G>A g.94031015G>A p.Gln1412* - ABCA4_000111 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 11 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic (recessive) g.94496571G>A g.94031015G>A p.Gln1412* - ABCA4_000111 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 16 PubMed: Birtel 2018 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic (recessive) g.94496571G>A g.94031015G>A p.Gln1412* - ABCA4_000111 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 66 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #1 - pathogenic (recessive) g.94496571G>A g.94031015G>A (p.Gln1412*) - ABCA4_000111 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 14 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A Q1412X - ABCA4_000111 - PubMed: Scholl 2001PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 38; 2 PubMed: Scholl 2001PubMed: Scholl 2001 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T p.Q1412* - ABCA4_000111 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease D801 PubMed: Bertelsen 2014 - M ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T p.Q1412* - ABCA4_000111 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA PE - APEX retinal disease D109 PubMed: Bertelsen 2014 - M ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A p.Q1412* - ABCA4_000111 - PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 22 PubMed: Duncker 2014 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T (p.Gln1412*) - ABCA4_000111 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 1 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #2 - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T (p.Gln1415*) - ABCA4_000111 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3216 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T (p.Gln1415*) - ABCA4_000111 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3154 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #2 - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T (p.Gln1415*) - ABCA4_000111 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4286 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Parent #2 - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T Gln1412Stop CAG>TAG - ABCA4_000111 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 773 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T Gln1412Stop CAG>TAG - ABCA4_000111 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 803 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A p.Q1412 - ABCA4_000111 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 4 PubMed: Paavo 2018 - - ? United States white - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T p.Gln1412* - ABCA4_000111 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease W16A PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C.T (p.Q1412*) - ABCA4_000111 - PubMed: Collison 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 25 PubMed: Collison 2019 - M ? United States white - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A het c.4234C>T p.Gln1412* - ABCA4_000111 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 52 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A het c.4234C>T p.Gln1412* - ABCA4_000111 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 72 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A het c.4234C>T p.Gln1412* - ABCA4_000111 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 96 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T/p.Q1412* - ABCA4_000111 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 312 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T/p.Q1412* - ABCA4_000111 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 506 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T/p.Q1412* - ABCA4_000111 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 310 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T p.Gln1412Ter - ABCA4_000111 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0417 PubMed: Georgiou 2019 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T p.(Gln1412*) - ABCA4_000111 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 19 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T p.Gln1412* het - ABCA4_000111 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2016-258-024 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown - pathogenic (recessive) g.94496571G>A g.94031015G>A c.4234C>T p.Gln1412* het - ABCA4_000111 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-272-089 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Maternal (confirmed) ACMG pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Tracewska 2019 - - Germline yes 0,00082 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 231 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Unknown ACMG likely pathogenic (recessive) g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Tracewska 2019 - - Germline yes 0,00082 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 457 PubMed: Tracewska 2019 mother of 231 F no Poland Slavic - - yes - 1 Anna Tracewska
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Maternal (confirmed) ACMG pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Tracewska 2019 - - Germline yes 0,00082 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 298 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
+/. 12 c.4234C>T r.(?) p.(Gln1412*) Maternal (confirmed) ACMG pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Tracewska 2019 - - Germline yes 0,00082 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 309 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Paternal (confirmed) ACMG pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Tracewska 2019 - - Germline yes 0,00082 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 318 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+/. 28 c.4234C>T r.(?) p.(Gln1412*) Paternal (confirmed) ACMG pathogenic g.94496571G>A g.94031015G>A - - ABCA4_000111 - PubMed: Tracewska 2019 - - Germline yes 0,00082 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 321 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
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