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.

234 entries on 3 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     
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #2 - pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 2 affecteds, unaffected carrier sib - no United States - - - - - 2 Johan den Dunnen
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T CGA > CAA - ABCA4_000029 - PubMed: Briggs 2001 - - Germline - ExAC 47, 121404, 1, 0.0003871 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T CGA > CAA - ABCA4_000029 - PubMed: Briggs 2001 - - Germline - ExAC 47, 121404, 1, 0.0003871 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Paternal (confirmed) - likely pathogenic g.94471055C>T g.94005499C>T c.2034G>T p.(K678N) +c.6089G>A p.(R2030Q) - ABCA4_000029 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? ? France ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - pathogenic g.94471055C>T g.94005499C>T 6089G→A - ABCA4_000029 - PubMed: Yatsenko 2001 - - Germline ? ExAC 47, 121404, 1, 0.0003871 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Paternal (confirmed) - pathogenic g.94471055C>T g.94005499C>T 6089G→A - ABCA4_000029 - PubMed: Yatsenko 2001 - - Germline yes ExAC 47, 121404, 1, 0.0003871 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Paternal (confirmed) - pathogenic g.94471055C>T g.94005499C>T 6089G→A - ABCA4_000029 - PubMed: Yatsenko 2001 - - Germline yes ExAC 47, 121404, 1, 0.0003871 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T 6089G>A - ABCA4_000029 - PubMed: Webster 2001 - - Germline - ExAC 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T R2030Q - ABCA4_000029 - PubMed: Jaakson 2003 - - Germline - ExAC 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Rosenberg 2007 - - Germline - 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Rosenberg 2007 - - Germline - 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Rosenberg 2007 - - Germline - 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Rosenberg 2007 - - Germline - 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Rosenberg 2007 - - Germline - 47, 121404, 1, 0.0003871 - - - 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
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T R2030Q - ABCA4_000029 - PubMed: Hwang 2009 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 - F ? Colombia ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T c.[1A>G]+[6089G>A] - ABCA4_000029 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Ernest 2009 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - pathogenic g.94471055C>T g.94005499C>T Arg2030Gln CGA>CAA - ABCA4_000029 - PubMed: Schindler 2010 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T M1V/R2030Q - ABCA4_000029 - PubMed: Burke 2010 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T Arg2030Gln - ABCA4_000029 - PubMed: Chen 2011 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Zernant 2011 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Zernant 2011 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Duno 2012 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Duno 2012 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Duno 2012 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A, p.Arg2030Gln - ABCA4_000029 - PubMed: Roberts 2012 - - Germline - 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A, p.Arg2030Gln - ABCA4_000029 - PubMed: Roberts 2012 - - Germline - 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A, p.Arg2030Gln - ABCA4_000029 - PubMed: Roberts 2012 - - Germline - 47, 121404, 1, 0.0003871 - - - 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
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - VUS g.94471055C>T g.94005499C>T M1V;R2030Q - ABCA4_000029 - PubMed: Maia-Lopes 2008 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T Met1Val;Arg2030Gln - ABCA4_000029 - PubMed: Oldani 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - pathogenic g.94471055C>T g.94005499C>T Gly1961Glu;Arg2030Gln - ABCA4_000029 - PubMed: Oldani 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - pathogenic g.94471055C>T g.94005499C>T 1A>G - ABCA4_000029 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T 6089G>A - ABCA4_000029 - PubMed: Downes 2012 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T p.Arg2030Gln - ABCA4_000029 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T p.Arg2030Gln - ABCA4_000029 - PubMed: Fujinami 2013 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Riveiro-Alvarez 2013 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Fujinami 2013 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Fujinami 2013 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Fujinami 2013 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Fujinami 2013 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Fujinami 2013 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T p.R2030Q - ABCA4_000029 - PubMed: Burke 2014 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - M ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T p.R2030Q - ABCA4_000029 - PubMed: Burke 2014 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - M ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T c.6089G>A - ABCA4_000029 - PubMed: Bauwens 2014 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T p.R2030Q - ABCA4_000029 - PubMed: Sciezynska 2015 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - VUS g.94471055C>T g.94005499C>T p.R2030Q - ABCA4_000029 - PubMed: Sciezynska 2015 - - Germline - 47, 121404, 1, 0.0003871 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Paternal (confirmed) - pathogenic g.94471055C>T g.94005499C>T p.R2030Q - ABCA4_000029 - PubMed: Duncker 2015 - - Germline ? 47, 121404, 1, 0.0003871 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T R2030Q - ABCA4_000029 - PubMed: Cideciyan 2009 - - Germline yes 47, 121404, 1, 0.0003871 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T R2030Q - ABCA4_000029 - PubMed: Cideciyan 2009 - - Germline yes 47, 121404, 1, 0.0003871 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 2 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T R2030Q - ABCA4_000029 - PubMed: Cideciyan 2009 - - Germline yes 47, 121404, 1, 0.0003871 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 2 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Paternal (confirmed) - likely pathogenic g.94471055C>T g.94005499C>T Gly863Ala and Arg2030Stop - ABCA4_000029 - PubMed: Song 2015 - - Germline yes - - - - DNA ? - - STGD1 - PubMed: Song 2015 ? M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Paternal (confirmed) - likely pathogenic g.94471055C>T g.94005499C>T Gly863Ala and Arg2030Stop - ABCA4_000029 - PubMed: Song 2015 - - Germline yes - - - - DNA ? - - STGD1 - PubMed: Song 2015 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(6089g>a) p.(Arg2030Gln) Parent #1 ACMG pathogenic (!) g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #2 - pathogenic (recessive) g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS3PatII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+/. - c.6089G>A r.(?) p.(Arg2030Gln) Unknown - pathogenic g.94471055C>T g.94005499C>T ABCA4(NM_000350.2):c.6089G>A (p.R2030Q), ABCA4(NM_000350.3):c.6089G>A (p.R2030Q) - ABCA4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T ABCA4(NM_000350.2):c.6089G>A (p.R2030Q), ABCA4(NM_000350.3):c.6089G>A (p.R2030Q) - ABCA4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61750641 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 ACMG pathogenic g.94471055C>T - c.[1A>G;6089G>A] - ABCA4_000029 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - pathogenic (recessive) g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat47 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - pathogenic (recessive) g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat55 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. - c.6089G>A r.(?) p.(Arg2030Gln) Unknown - pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Wang 2017 - rs61750641 Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD13–08 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown ACMG likely pathogenic g.94471055C>T - - - ABCA4_000029 - Mena et al., 2020 submitted. - rs61750641 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.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 785 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 786 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 795 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. - c.6089G>A r.(?) p.(Arg2030Gln) Parent #2 ACMG pathogenic (recessive) g.94471055C>T g.94005499C>T c.G6089A - ABCA4_000029 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM029 PubMed: Zhang 2016 family M - United States Hispanic - - - - 1 LOVD
+?/. - c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic g.94471055C>T g.94005499C>T - - ABCA4_000029 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12007398 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T p.Arg2030Gln - ABCA4_000029 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 47 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T p.Arg2030Gln - ABCA4_000029 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 55 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A (p.Arg2030Gln) - ABCA4_000029 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2930 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T R2030Q - ABCA4_000029 no variant 2nd chromosome; segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0029 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.R2030Q - ABCA4_000029 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 14365 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.R2030Q - ABCA4_000029 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 5071 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(R2030Q) - ABCA4_000029 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 547 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A (p.Arg2030Gln) - ABCA4_000029 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4720 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A Arg2030Gln CGA>CAA - ABCA4_000029 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 785 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A Arg2030Gln CGA>CAA - ABCA4_000029 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 786 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A Arg2030Gln CGA>CAA - ABCA4_000029 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 795 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A,p.Arg2030Gln - ABCA4_000029 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14031 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.[6089G>A] - ABCA4_000029 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P4G1 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Parent #1 - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.[6089G>A] - ABCA4_000029 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P4G16 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 5 PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66690 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67108 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67184 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67296 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T p.Arg2030Gln - ABCA4_000029 no variant 2nd chromosome PubMed: Coco-Martin 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F3-V-2 PubMed: Coco-Martin 2020 Another mutation was found in PRPH2: p.Lys154del M no Spain white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T het c.6089G>A p.Arg2030Gln - ABCA4_000029 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T het c.6089G>A p.Arg2030Gln - ABCA4_000029 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 73 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T het c.6089G>A p.Arg2030Gln - ABCA4_000029 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 75 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0678 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1001 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1169 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6089G>A r.(?) p.(Arg2030Gln) Unknown - likely pathogenic (recessive) g.94471055C>T g.94005499C>T c.6089G>A p.(Arg2030Gln) - ABCA4_000029 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 31 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
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