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.

110 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.4457C>T r.(?) p.(Pro1486Leu) Paternal (confirmed) - likely pathogenic g.94495083G>A g.94029527G>A CCA > CTA - ABCA4_000542 - PubMed: Briggs 2001 - - Germline yes ExAC 11, 77176, 0, 0.0001425 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A CCA > CTA - ABCA4_000542 - PubMed: Briggs 2001 - - Germline ? ExAC 11, 77176, 0, 0.0001425 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A CCA > CTA - ABCA4_000542 - PubMed: Briggs 2001 - - Germline ? ExAC 11, 77176, 0, 0.0001425 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A CCA > CTA - ABCA4_000542 - PubMed: Briggs 2001 - - Germline - ExAC 11, 77176, 0, 0.0001425 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - VUS g.94495083G>A g.94029527G>A P1486L - ABCA4_000542 - PubMed: Rivera 2000 - - Germline - ExAC 11, 77176, 0, 0.0001425 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - VUS g.94495083G>A g.94029527G>A 4457C>T - ABCA4_000542 - PubMed: Webster 2001 - - Germline - ExAC 11, 77176, 0, 0.0001425 - - - 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.4457C>T r.(?) p.(Pro1486Leu) Unknown - VUS g.94495083G>A g.94029527G>A P1486L - ABCA4_000542 - PubMed: Jaakson 2003 - - Germline - ExAC 11, 77176, 0, 0.0001425 - - - 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
?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - VUS g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Kitiratschky 2008 - - Germline ? ExAC 11, 77176, 0, 0.0001425 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline ? 11, 77176, 0, 0.0001425 - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic g.94495083G>A g.94029527G>A Pro1486Leu - ABCA4_000542 - PubMed: Chen 2011 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic g.94495083G>A g.94029527G>A Pro1486Leu - ABCA4_000542 - PubMed: Chen 2011 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Zernant 2011 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A 4457C>T - ABCA4_000542 - PubMed: Downes 2012 - - Germline yes 11, 77176, 0, 0.0001425 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Both (homozygous) - likely pathogenic g.94495083G>A g.94029527G>A 4457C>T - ABCA4_000542 - PubMed: Downes 2012 - - Germline yes 11, 77176, 0, 0.0001425 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 11, 77176, 0, 0.0001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Riveiro-Alvarez 2013 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Riveiro-Alvarez 2013 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Riveiro-Alvarez 2013 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 11, 77176, 0, 0.0001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - VUS g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Riveiro-Alvarez 2013 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A p.P1486L - ABCA4_000542 - PubMed: Burke 2014 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - F ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A p.P1486L - ABCA4_000542 - PubMed: Zernant 2014 - - Germline - 11, 77176, 0, 0.0001425 - - - DNA arrayCGH, SEQ-NG-R, SEQ-NG-I, SEQ - - STGD1 - PubMed: Zernant 2014 2-generation family, 2 affected M yes - USA, Spain, Italy or Denmark - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Maternal (confirmed) - likely pathogenic g.94495083G>A g.94029527G>A p.P1486L - ABCA4_000542 - PubMed: Duncker 2015 - - Germline yes 11, 77176, 0, 0.0001425 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - white - - - - 1 Stéphanie Cornelis
+/. 30 c.4457C>T r.(4457c>u) p.(Pro1486Leu) Parent #1 ACMG pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 30 c.4457C>T r.(?) P.(Pro1486Leu) Both (homozygous) - likely pathogenic g.94495083G>A g.94029527G>A - - ABCA4_000542 - Sharon, submitted - - Germline - - - - - DNA SEQ - - maculopathy - Sharon, submitted - M yes Israel Turkey;Jewish - - - - 1 Dror Sharon
+?/. 30 c.4457C>T r.(?) P.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A - - ABCA4_000542 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F yes Israel Arab-Muslim - - - - 1 Dror Sharon
+?/. 30 c.4457C>T r.(?) P.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A - - ABCA4_000542 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M no Israel Jewish - - - - 1 Dror Sharon
+?/. 30 c.4457C>T r.(?) P.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A - - ABCA4_000542 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M no Israel Jewish - - - - 1 Dror Sharon
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Unknown ACMG pathogenic g.94495083G>A - - - ABCA4_000542 - 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
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Unknown ACMG pathogenic g.94495083G>A - - - ABCA4_000542 - 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.4457C>T r.(?) p.(Pro1486Leu) Parent #1 - likely pathogenic g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 806 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown ACMG likely pathogenic g.94495083G>A - - - ABCA4_000542 - Mena et al., 2020 submitted - rs61750145 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - M no Argentina - - - - - 1 Marcela Mena
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A P1486L (4457C>T) - ABCA4_000542 - PubMed: Stenirri 2007 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease STGD2 PubMed: Stenirri 2007 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A Pro1486Leu - ABCA4_000542 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 186 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A Pro1486Leu - ABCA4_000542 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 187 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A Pro1486Leu - ABCA4_000542 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 188 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #1 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A P1486L - ABCA4_000542 - PubMed: Cideciyan 2012 - - Unknown yes - - - - DNA ? - - retinal disease P25 PubMed: Cideciyan 2012 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A P1486L - ABCA4_000542 - PubMed: Huang 2014 - - Unknown - - - - - DNA ? - - retinal disease P31‡ PubMed: Huang 2014 sibling of P25 from Cideciyan et al. F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(P1486L) - ABCA4_000542 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 475 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #1 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T (p.Pro1486Leu) - ABCA4_000542 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3511 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T (p.Pro1486Leu) - ABCA4_000542 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3765 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T Pro1486Leu CCA>CTA - ABCA4_000542 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 806 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.Pro1486Leu - ABCA4_000542 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 24 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.[4457C>T] - ABCA4_000542 no variant 2nd chromosome; no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P9G15 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 851 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 852 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 853 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 854 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0293 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #1 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0493 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0602 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0622 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0696 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0969 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Both (homozygous) - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0991 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #1 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1086 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Both (homozygous) - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1164 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Both (homozygous) - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1302 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Both (homozygous) - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-428-910 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1193 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T; p.(Pro1486Leu) - ABCA4_000542 - PubMed: Rodríguez-Muños 2020 - - Unknown - - - - - DNA SEQ-NG - - retinal disease RPN-290 PubMed: Rodríguez-Muños 2020 - M ? Spain Spain - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T - ABCA4_000542 - PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 17 PubMed: Alabduljalil 2019 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T, p.Pro1486Leu Heterozygous - ABCA4_000542 - PubMed: Goetz 2020 - - Unknown - 11, 77176, 0, 0.0001425 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1783-2398 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T, p.Pro1486Leu Heterozygous - ABCA4_000542 - PubMed: Goetz 2020 - - Unknown - 11, 77176, 0, 0.0001425 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2810-4385 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T, p.Pro1486Leu Heterozygous - ABCA4_000542 - PubMed: Goetz 2020 - - Unknown - 11, 77176, 0, 0.0001425 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4241-5141 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.Pro1486Leu - ABCA4_000542 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 84 PubMed: Cideciyan 2015 sibling of patient 85 M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.Pro1486Leu - ABCA4_000542 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 85 PubMed: Cideciyan 2015 sibling of patient 84 F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T,p.Pro1486Leu - ABCA4_000542 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16033 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4561C>T;P1486L - ABCA4_000542 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 18. PubMed: Piccardi 2019 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0631 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0698 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1036 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1116 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1240 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-2668 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease RP-2680 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T; p.(Pro1486Leu) - ABCA4_000542 - PubMed: Rodríguez-Muños 2020 - - Unknown - - - - - DNA SEQ-NG - - retinal disease RPN-290 PubMed: Rodríguez-Muños 2020 - M ? Spain Spain - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T p.(Pro1486Leu) - ABCA4_000542 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 1 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A p.P1486L - ABCA4_000542 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 31 PubMed: Chen 2019 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T, p.Pro1486Leu Heterozygous - ABCA4_000542 - PubMed: Goetz 2020 - - Unknown - 11, 77176, 0, 0.0001425 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3285-4029 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457 C>T, p.Pro1486Leu Heterozygous - ABCA4_000542 - PubMed: Goetz 2020 - - Unknown - 11, 77176, 0, 0.0001425 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5968-7458 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A g.94029527G>A c.4457C>T, p.Pro1486Leu Heterozygous - ABCA4_000542 - PubMed: Goetz 2020 - - Unknown - 11, 77176, 0, 0.0001425 - - - DNA SEQ - - retinal disease 82-754 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A c.4457C>T, p.Pro1436Leu - ABCA4_000542 error in annotation, c.4457C>T causes p.Pro1486Leu and not p.Pro1436Leu, PubMed: Del Pozo-Valero - - Germline ? - - - - DNA SEQ-NG blood this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing retinal disease RP-2680 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic g.94495083G>A g.94029527G>A ABCA4 Ex.30 c.4457C>T p.(Pro1486Leu), Ex.43 c.5914G>A p.(Gly1972Arg) - ABCA4_000542 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1916 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.4457C>T r.(?) p.(Pro1486Leu) Both (homozygous) ACMG likely pathogenic g.94495083G>A g.94029527G>A ABCA4:NM_000350 c.C4457T, p.P1486L - ABCA4_000542 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-290 PubMed: Rodriguez-Munoz 2020 family fRPN-133, proband M - Spain - - - - - 1 LOVD
+?/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Unknown - likely pathogenic (recessive) g.94495083G>A - c.4457C>T - ABCA4_000542 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71297 PubMed: Khan 2020 - M - - - - - - - 1 LOVD
+/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #1 ACMG pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat42 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Both (homozygous) ACMG pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat170 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 ACMG pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat169 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 30 c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 ACMG pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat172 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Unknown ACMG pathogenic g.94495083G>A - - - ABCA4_000542 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-866115 rs61750145 Germline yes - - - - DNA SEQ-NG-I buccal swab - STGD 2693322 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+?/. - c.4457C>T r.4457c>u p.Pro1486Leu Unknown - NA g.94495083G>A g.94029527G>A - - ABCA4_000542 functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect mild PubMed: Kaltak 2023 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0071 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0236 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0718 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA MCA, SEQ - - retinal disease L-0922 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Unknown - pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1029 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0544 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0545 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4457C>T r.(?) p.(Pro1486Leu) Parent #2 - pathogenic (recessive) g.94495083G>A g.94029527G>A - - ABCA4_000542 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0625 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
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