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.

136 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     
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic g.94495009dup g.94029453dup - - ABCA4_000087 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Paternal (confirmed) - pathogenic g.94495009dup g.94029453dup 4538insC - ABCA4_000087 - PubMed: Briggs 2001 - - Germline ? - - - - DNA SSCA, SEQ - - CORD - PubMed: Briggs 2001 2-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup 4538insC - ABCA4_000087 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup 1bp ins (c) codon 1513 - ABCA4_000087 - PubMed: Fishman 1999 - - Germline ? - - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup 1bp ins (c) codon 1513 - ABCA4_000087 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - - Germline ? - - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup 4531insC - ABCA4_000087 - 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
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup 4531insC - ABCA4_000087 - 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
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup c.4587_4538insC - ABCA4_000087 - PubMed: Stenirri 2008 - - Germline - - - - - 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
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup c.4587_4538insC - ABCA4_000087 - PubMed: Stenirri 2008 - - Germline - - - - - 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
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup c.4537_4538insC - ABCA4_000087 - PubMed: Zernant 2011 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup c.4535insC, p.Gln1513Profs*42 - ABCA4_000087 - PubMed: Roberts 2012 - - Germline - - - - - 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
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup 4538insC - ABCA4_000087 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic g.94495009dup g.94029453dup 4538insC - ABCA4_000087 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup p.Gln1513Profs*42 - ABCA4_000087 - PubMed: Oldani 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup 4537dupC - ABCA4_000087 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup p.Gly1513Profs*1554 - ABCA4_000087 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup c.4537_4538insC - ABCA4_000087 - PubMed: Chacón-Camacho 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup c.4537_4538insC - ABCA4_000087 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic g.94495009dup g.94029453dup c.4537_4538insC - ABCA4_000087 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup c.4537_4538insC - ABCA4_000087 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - VUS g.94495009dup g.94029453dup c.4537_4538insC, p.Gly1513Pro fs*1554 - ABCA4_000087 - PubMed: Fujinami 2013 - - Germline - - - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup c.4537_4538insC - ABCA4_000087 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - ? - PubMed: Bauwens 2014 2-generation family, 2 affected M ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup P1511ins1ccgC - ABCA4_000087 - PubMed: Cideciyan 2009 - - Germline - - - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup P1511ins1ccgC - ABCA4_000087 - PubMed: Cideciyan 2009 - - Germline - - - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(4537dup) p.(Gln1513ProfsTer42) Parent #1 ACMG pathogenic (recessive) g.94495009dup g.94029453dup c.4536_4537insC - ABCA4_000087 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 30 c.4537dup r.(?) p.(Gln1513fs) Unknown - pathogenic g.94495009dup g.94029453dup - - ABCA4_000087 - {CV:RCV000210298.1} - rs281865377 Germline - - - - - DNA SEQ-NG - - retinal disease - Haer-Wigman 2016 - ? no - - - - - - 1 Lonneke Haer-Wigman
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Both (homozygous) - pathogenic g.94495002dup - - - ABCA4_000087 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - M yes Israel Arab-Muslim - - - - 3 Dror Sharon
+?/. - c.4537dup r.(?) p.(Gln1513Profs*42) Parent #1 - likely pathogenic (recessive) g.94495003dup g.94029447dup - - ABCA4_000087 - PubMed: Holtan 2020 - - Germline - 3/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 3 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 3 Global Variome, with Curator vacancy
+/. - c.4537dup r.(?) p.(Gln1513Profs*42) Unknown ACMG pathogenic g.94495003dup - - - ABCA4_000087 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. - c.4537dup r.(?) p.(Gln1513Profs*42) Unknown ACMG pathogenic g.94495003dup - - - ABCA4_000087 - 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
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Parent #1 - pathogenic (recessive) g.94495009dup g.94029453dup - - ABCA4_000087 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat34 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. - c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic g.94495009dup g.94029453dup - - ABCA4_000087 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8190 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup p.Gln1513Profs*42 - ABCA4_000087 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 34 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537insC - ABCA4_000087 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 127 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537insC - ABCA4_000087 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 128 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537insC - ABCA4_000087 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 129 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537_4538insC, - ABCA4_000087 - PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P8 PubMed: Duncker 2013 - M no United States white - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC - ABCA4_000087 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 19 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup (p.Gln1513fs) - ABCA4_000087 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3275 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Parent #1 - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup (p.Gln1513fs) - ABCA4_000087 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3474 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup 4538insC - ABCA4_000087 - PubMed: Melillo 2018 - - Unknown - - - - - DNA ? - - retinal disease 18 PubMed: Melillo 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537_4538insC,p.Pro1513GlnfsTer42 - ABCA4_000087 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13034 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537_4538insC,p.Pro1513GlnfsTer42 - ABCA4_000087 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13068 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537_4538insC,p.Pro1513GlnfsTer42 - ABCA4_000087 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13074 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537_4538insC,p.Pro1513GlnfsTer42 - ABCA4_000087 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14067 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4530_4531insC,p.Pro1511ProfsTer44 - ABCA4_000087 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16014 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537_4538insC,p.Pro1513GlnfsTer42 - ABCA4_000087 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19005 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 706 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 707 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 708 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 856 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 857 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 858 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 859 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Both (homozygous) - pathogenic (recessive) g.94495009dup g.94029453dup c.[4537dupC];[4537dupC] - ABCA4_000087 - PubMed: Xu 2014 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP250 PubMed: Xu 2014 Younger brother affected as well M no China China - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup 4538insC; - ABCA4_000087 - PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease C6 PubMed: Melillo 2020 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup p.(Gln1513Profs*42) - ABCA4_000087 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0512 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Both (homozygous) - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup p.(Gln1513Profs*42) - ABCA4_000087 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-1844 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup ENST00000370225.3:c.4537dupC p.Gln1513ProfsTer42 0/1 - ABCA4_000087 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G008144 PubMed: Carss 2017 - F ? England Africa - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup p.(Gln1513Profs*42) - ABCA4_000087 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1192 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC p.Gln1513Profs*42 het - ABCA4_000087 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2015-070-050 Prevention Genetics - - ? - Hispanic, Irish, Native American - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC p.Gln1513Profs*42 Het - ABCA4_000087 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-171-034 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC p.Gln1513Profs*42 het - ABCA4_000087 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-290-275 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513Profs*42 Heterozygous - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1392-1928 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513Profs*42 Heterozygous - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1981-3509 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4538insC, p.Gln1513fs Heterozygous - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 276-1654 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513ProfsX42 Heterozygous - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2873-4460 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513Profs*42 Heterozygous - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 2945-3644 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513ProfsX42 Heterozygous - ABCA4_000087 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3182-3919 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4538insC, p.Gln1513fs Heterozygous - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 347-1730 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513ProfsX42 Heterozygous - ABCA4_000087 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3785-4610 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513ProfsX42 Heterozygous - ABCA4_000087 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3909-4792 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 4401-6210 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 4616-5613 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 4784-5804 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 618-1131 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Maternal (inferred) - pathogenic (recessive) g.94495009dup g.94029453dup 4535insC - ABCA4_000087 - PubMed: Roberts 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease RPS145 PubMed: Roberts 2009 - F ? South Africa - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Parent #2 - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup p.(Gln1513Profs*42) - ABCA4_000087 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC03710 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Parent #2 - pathogenic (recessive) g.94495009dup g.94029453dup c.[3386G>T;4537dup] p.[Arg1129Leu;Gln1513Profs*42] - ABCA4_000087 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0694 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup p.(Gln1513Profs*42) - ABCA4_000087 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0770 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Parent #2 - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup p.(Gln1513Profs*42) - ABCA4_000087 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease RP-0674 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup ENST00000370225.3:c.4537dupC p.Gln1513ProfsTer42 0/1 - ABCA4_000087 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G005494 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup p.(Gln1513fs) - ABCA4_000087 - PubMed: Haer-Wigman 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease 8190 PubMed: Haer-Wigman 2017 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup NM_000350:exon30:c.4537dupC:p.Q1513fs - ABCA4_000087 - PubMed: Chen 2020 - - Unknown - - - - - DNA SEQ-NG - TES retinal disease F11-II-1 PubMed: Chen 2020 - F no Taiwan Taiwan - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup/p.Q1513Pfs*42 - ABCA4_000087 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 253 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC p.Gln1513Profs*42 Pathogenic - ABCA4_000087 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-264-219 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513ProfsX42 Heterozygous - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2492-3132 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dupC, p.Gln1513ProfsX42 Heterozygous - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2699-4272 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495009dup g.94029453dup c.4537dup - ABCA4_000087 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 6269-7734 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Maternal (confirmed) ACMG pathogenic g.94495009dup g.94029453dup - - ABCA4_000087 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 229 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Maternal (confirmed) ACMG pathogenic g.94495009dup g.94029453dup - - ABCA4_000087 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA RFLP buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 444 PubMed: Tracewska 2019 brother of 229 M no Poland Slavic - - yes - 1 Anna Tracewska
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Maternal (confirmed) ACMG pathogenic g.94495009dup g.94029453dup - - ABCA4_000087 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA RFLP buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 445 PubMed: Tracewska 2019 sister of 229 F no Poland Slavic - - yes - 1 Anna Tracewska
+/. - c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic g.94495009dup g.94029453dup ABCA4 c.4537dupC, p.Gln1513ProfsTer42 - ABCA4_000087 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005494 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - likely pathogenic g.94495009dup g.94029453dup ABCA4 c.4537dupC, p.Gln1513ProfsTer42 - ABCA4_000087 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008144 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.4537dup r.(?) p.(Gln1513ProfsTer42) Parent #1 - pathogenic g.94495009dup g.94029453dup c.4537dupC - ABCA4_000087 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease 13012708 PubMed: Ellingford 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4537dup r.(?) p.(Gln1513ProfsTer42) Parent #2 - pathogenic (recessive) g.94495009dup g.94029453dup 4537dupC - ABCA4_000087 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495003dup - c.4537dup p.(Gln1513Profs*42) - ABCA4_000087 - Briggs 2001 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0853; 71285 PubMed: Del Pozo-Valero 2020PubMed: Khan 2020 - F - Spain - - - - - 1 LOVD
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495003dup - c.4537dup - ABCA4_000087 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70584 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495003dup - c.4537dup - ABCA4_000087 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70749 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+/. 30 c.4537dup r.(?) p.(Gln1513Profs*42) Unknown - pathogenic (recessive) g.94495003dup - c.4537dup - ABCA4_000087 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70825 PubMed: Khan 2020 - M - New Zealand - - - - - 1 LOVD
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