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.

129 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     
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A R653C - ABCA4_000768 - PubMed: Rivera 2000 - - Germline - ExAC 1, 96614, 0, 0.00001035 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Paternal (confirmed) - likely pathogenic g.94526296G>A g.94060740G>A R653C - ABCA4_000768 - PubMed: Fumagalli 2001 - - Germline - ExAC 1, 96614, 0, 0.00001035 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A R653C(1957C>T) - ABCA4_000768 - PubMed: Stenirri 2004 - - Germline - ExAC 1, 96614, 0, 0.00001035 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A R653C(1957C>T) - ABCA4_000768 - PubMed: Stenirri 2004 - - Germline - ExAC 1, 96614, 0, 0.00001035 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A c.1957C>T - ABCA4_000768 - PubMed: Rosenberg 2007 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A R653C - ABCA4_000768 found no variant 2nd chromosome PubMed: Passerini 2010 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A c.1957C>T - ABCA4_000768 - PubMed: Stenirri 2008 - - Germline - 1, 96614, 0, 0.00001035 - - - 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
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A Arg653Cys CGC>TGC - ABCA4_000768 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A Arg653Cys CGC>TGC - ABCA4_000768 - PubMed: Schindler 2010 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A Arg653Cys CGC>TGC - ABCA4_000768 - PubMed: Schindler 2010 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys - ABCA4_000768 - PubMed: Roberts 2012 - - Germline - 1, 96614, 0, 0.00001035 - - - 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.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A R653C - ABCA4_000768 - PubMed: Testa 2012 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A 1957C>T - ABCA4_000768 - PubMed: Downes 2012 - - Germline ? 1, 96614, 0, 0.00001035 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A p.Arg653Cys - ABCA4_000768 - PubMed: Fujinami 2013 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A c.1957C>T - ABCA4_000768 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 96614, 0, 0.00001035 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Maternal (confirmed) - pathogenic g.94526296G>A g.94060740G>A c.1957C.T - ABCA4_000768 - PubMed: Huang 2013 - - Germline yes 1, 96614, 0, 0.00001035 - - - DNA SEQ-NG, PCR, SEQ - - CORD - PubMed: Huang 2013 - M ? China Chinese - - - - 1 Stéphanie Cornelis
-?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely benign g.94526296G>A g.94060740G>A c.1957C>T - ABCA4_000768 - PubMed: Fujinami 2013 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A c.1957C>T - ABCA4_000768 - PubMed: Fujinami 2013 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A c.1957C>T - ABCA4_000768 - PubMed: Fujinami 2013 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - VUS g.94526296G>A g.94060740G>A c.1957C>T - ABCA4_000768 - PubMed: Fujinami 2013 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
-?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely benign g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys - ABCA4_000768 - PubMed: Fujinami 2013 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A c.1957C>T, - ABCA4_000768 - PubMed: Lambertus 2015 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 c.6320G>A was also identified in this patient ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A p.R653C - ABCA4_000768 - PubMed: Sciezynska 2015 - - Germline - 1, 96614, 0, 0.00001035 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(1957c>u) p.(Arg653Cys) Parent #1 ACMG pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; multiple other variant changes at the same position are enriched in >3000 likely Caucasian STGD1 patients, supporting pathogenicity according to ACMG guidelines PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Parent #2 - likely pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian - - - - 29 Jana Zernant
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A ABCA4(NM_000350.2):c.1957C>T (p.R653C) - ABCA4_000768 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - likely pathogenic g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. - c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic g.94526296G>A - ABCA4(NM_000350.2):c.1957C>T (p.R653C) - ABCA4_000768 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1957C>T r.(?) p.(Arg653Cys) Unknown ACMG pathogenic g.94526296G>A - - - ABCA4_000768 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 6135 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown ACMG likely pathogenic g.94526296G>A - - - ABCA4_000768 - Mena et al., 2020 submitted. - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no (Argentina) - - - - - 1 Marcela Mena
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A g.94060740G>A - - ABCA4_000768 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 809 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - likely pathogenic g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 796 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Parent #2 - likely pathogenic g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 747 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Parent #2 - likely pathogenic g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 759 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown ACMG likely pathogenic g.94526296G>A - - - ABCA4_000768 - Mena et al., 2020 submitted - rs61749420 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown ACMG likely pathogenic g.94526296G>A - - - ABCA4_000768 - Mena et al., 2020 submitted - rs61749420 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown ACMG likely pathogenic g.94526296G>A - - - ABCA4_000768 - Mena et al., 2020 submitted - rs61749420 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown ACMG likely pathogenic g.94526296G>A - - - ABCA4_000768 - Mena et al., 2020 submitted - rs61749420 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown ACMG likely pathogenic g.94526296G>A - - - ABCA4_000768 - Mena et al., 2020 submitted - rs61749420 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+/. - c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - pathogenic g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Zolnikova 2017 - rs61749420 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P003 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - likely pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Huang 2013, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT959 PubMed: Huang 2013, PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Both (homozygous) - likely pathogenic g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Oishi 2016 - rs61749420 Germline - - - - - DNA SEQ-NG - gene panel retinal disease K6120 PubMed: Oishi 2016 4-generation family, 1 affected M - Japan - - - - - 1 LOVD
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A ARg653Cys - ABCA4_000768 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 106 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - pathogenic (recessive) g.94526296G>A g.94060740G>A p.[Arg653Cys];[Arg2030*] - ABCA4_000768 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 2* PubMed: Fujinami 2015 - - yes United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - pathogenic (recessive) g.94526296G>A g.94060740G>A p.[Arg653Cys];[Pro1380Leu] - ABCA4_000768 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 36 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Both (homozygous) - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T - ABCA4_000768 - PubMed: Oishi 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease K6120 PubMed: Oishi 2016 - M yes Japan - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T Arg653Cys Heterozygous - ABCA4_000768 - PubMed: Zolnikova 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P003 PubMed: Zolnikova 2017 - M ? Russia Russia-Slavonia - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T p.(R653C) - ABCA4_000768 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 423 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T (p.Arg653Cys) - ABCA4_000768 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3902 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T (p.Arg653Cys) - ABCA4_000768 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3852 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T (p.Arg653Cys) - ABCA4_000768 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3002 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T (p.Arg653Cys) - ABCA4_000768 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9011 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T Arg653Cys CGC>TGC - ABCA4_000768 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 796 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T Arg653Cys CGC>TGC - ABCA4_000768 no variant 2nd chromosome; no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 809 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A p.R653C - ABCA4_000768 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 2 PubMed: Paavo 2018 - - ? United States India - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T,p.Arg653Cys - ABCA4_000768 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11004 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T,p.Arg653Cys - ABCA4_000768 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14021 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T,p.Arg653Cys - ABCA4_000768 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14025 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T p.(Arg653Cys) - ABCA4_000768 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66792 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T/p.(Arg653Cys) - ABCA4_000768 no variant 2nd chromosome PubMed: Müller 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 4 PubMed: Müller 2020 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T p.(Arg653Cys) - ABCA4_000768 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0829 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A p.R653C - ABCA4_000768 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 32 PubMed: Chen 2019 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T p.Arg653Cys het - ABCA4_000768 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-083-088 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys Heterozygous - ABCA4_000768 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 96614, 0, 0.00001035 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5081-7041 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys heterozygous - ABCA4_000768 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 96614, 0, 0.00001035 - - - DNA SEQ - - retinal disease 5401-6522 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys heterozygous - ABCA4_000768 - PubMed: Goetz 2020 - - Unknown - 1, 96614, 0, 0.00001035 - - - DNA SEQ - - retinal disease 5402-6522 PubMed: Goetz 2020 5402 is a family member of 5401 - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys Heterozygous - ABCA4_000768 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 96614, 0, 0.00001035 - - - DNA SEQ - - retinal disease 6251-7701 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys Heterozygous - ABCA4_000768 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 96614, 0, 0.00001035 - - - DNA SEQ-NG-I - solid state SBS retinal disease 869-1387 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A p.(R653C) - ABCA4_000768 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90149 PubMed: Lee 2017 - F ? - India - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T p.(Arg653Cys) - ABCA4_000768 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease MEH 14 PubMed: Lambertus 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T (p.Arg653Cys) - ABCA4_000768 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3902 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #2 - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T Arg653Cys CGC>TGC - ABCA4_000768 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 747 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #2 - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T Arg653Cys CGC>TGC - ABCA4_000768 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 759 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C.T (p.R653C) - ABCA4_000768 - PubMed: Collison 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 8 F4-I:2* PubMed: Collison 2019 - F ? United States white - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C.T p.Arg653Cys; c.1411G.A p.Glu471Lys - ABCA4_000768 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P12 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A R653C - ABCA4_000768 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 30. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T/p.R653C - ABCA4_000768 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 289 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T/p.R653C - ABCA4_000768 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 356 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T p.(Arg653Cys) - ABCA4_000768 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6135 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys Heterozygous - ABCA4_000768 - PubMed: Goetz 2020 - - Unknown - 1, 96614, 0, 0.00001035 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2767-4374 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys Heterozygous - ABCA4_000768 - PubMed: Goetz 2020 - - Unknown - 1, 96614, 0, 0.00001035 - - - DNA SEQ - - retinal disease 3771-4596 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A g.94060740G>A c.1957C>T, p.Arg653Cys Heterozygous - ABCA4_000768 - PubMed: Goetz 2020 - - Unknown - 1, 96614, 0, 0.00001035 - - - DNA SEQ - - retinal disease 4944-5982 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.1957C>T r.(?) p.(Arg653Cys) Unknown ACMG VUS g.94526296G>A - - - ABCA4_000768 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - STGD IR_GH_0027 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - likely pathogenic g.94526296G>A - c.1957C>T - ABCA4_000768 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - likely pathogenic g.94526296G>A - c.1957C>T - ABCA4_000768 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A - c.1957C>T, p.Arg653Cys - ABCA4_000768 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 53 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - pathogenic (recessive) g.94526296G>A - c.1957C>T/p.(Arg653Cys) - ABCA4_000768 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 4 PubMed: Müller 2020 unknown 2nd chromosome F ? Germany - - - - - 1 LOVD
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A - c.1957C>T (p.R653C) - ABCA4_000768 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease GPS-1 PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/G respectively. Unknown 2nd chromosome. F ? Germany - - - - - 1 LOVD
+/. - c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A - c.1957C>T - ABCA4_000768 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70715 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A - c.1957C>T - ABCA4_000768 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70732 PubMed: Khan 2020 - M - Czech Republic - - - - - 1 LOVD
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Unknown - pathogenic (recessive) g.94526296G>A - c.1957C>T - ABCA4_000768 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70948 PubMed: Khan 2020 - F - Australia - - - - - 1 LOVD
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - pathogenic g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Pat43 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Paternal (confirmed) ACMG pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#1 Bianco 2023, submitted - M no Italy - - - - - 2 Lorenzo Bianco
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Paternal (confirmed) ACMG pathogenic (recessive) g.94526296G>A - - - ABCA4_000768 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#2 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+?/. 14 c.1957C>T r.(?) p.(Arg653Cys) Paternal (confirmed) ACMG pathogenic (recessive) g.94526296G>A - - - ABCA4_000768 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#29 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 ACMG pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat73 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 ACMG pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat117 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 14 c.1957C>T r.(?) p.(Arg653Cys) Parent #1 ACMG pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat131 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.1957C>T r.(?) p.(Arg653Cys) Parent #1 - pathogenic (recessive) g.94526296G>A g.94060740G>A - - ABCA4_000768 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0153 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
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