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.

140 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     
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - likely pathogenic g.94471056G>A g.94005500G>A - - ABCA4_000050 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Paternal (confirmed) - pathogenic g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: González-del Pozo 2014 - - Germline yes ExAC 3, 121402, 0, 0.00002471 - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease RP19PatII2 PubMed: González-del Pozo 2014 2-generation family, 3 affected, 4 carriers F no Spain Spanish - - - - 3 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Paternal (confirmed) - pathogenic g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: González-del Pozo 2014 - - Germline yes ExAC 3, 121402, 0, 0.00002471 - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease RP19PatII4 PubMed: González-del Pozo 2014 brother M no Spain Spanish - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Paternal (confirmed) - pathogenic g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: González-del Pozo 2014 - - Germline yes ExAC 3, 121402, 0, 0.00002471 - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease RP19PatII6 PubMed: González-del Pozo 2014 sister F no Spain Spanish - - - - 1 Stéphanie Cornelis
?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - VUS g.94471056G>A g.94005500G>A C6088T - ABCA4_000050 - PubMed: Papaioannou 2000 - - Germline - ExAC 3, 121402, 0, 0.00002471 - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - VUS g.94471056G>A g.94005500G>A Arg2030stop - ABCA4_000050 - PubMed: Fishman 1999 - - Germline - ExAC 3, 121402, 0, 0.00002471 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - VUS g.94471056G>A g.94005500G>A 6088C>T - ABCA4_000050 - PubMed: Webster 2001 - - Germline - ExAC 3, 121402, 0, 0.00002471 - - - 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.6088C>T r.(?) p.(Arg2030*) Unknown - VUS g.94471056G>A g.94005500G>A 6088C>T - ABCA4_000050 - PubMed: Webster 2001 - - Germline - ExAC 3, 121402, 0, 0.00002471 - - - 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.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A R2030X - ABCA4_000050 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 3, 121402, 0, 0.00002471 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa Asian-Indian - - - - 1 Stéphanie Cornelis
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A R2030X - ABCA4_000050 - PubMed: Simonelli 2005, PubMed: Testa 2012 - - Germline ? ExAC 3, 121402, 0, 0.00002471 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A R2030X - ABCA4_000050 - PubMed: Simonelli 2005 - - Germline ? ExAC 3, 121402, 0, 0.00002471 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 2 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic g.94471056G>A g.94005500G>A c.6088C>T - ABCA4_000050 - PubMed: Singh 2006 - - Germline yes ExAC 3, 121402, 0, 0.00002471 - - - DNA PCRdig, SEQ - - RD - PubMed: Singh 2006 5-generation family, 3 affected M yes India ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic g.94471056G>A g.94005500G>A c.6088C>T - ABCA4_000050 - PubMed: Singh 2006 - - Germline yes ExAC 3, 121402, 0, 0.00002471 - - - DNA PCRdig, SEQ - - RD - PubMed: Singh 2006 5-generation family, 3 affected M yes India ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic g.94471056G>A g.94005500G>A c.6088C>T - ABCA4_000050 - PubMed: Singh 2006 - - Germline yes ExAC 3, 121402, 0, 0.00002471 - - - DNA PCRdig, SEQ - - RD - PubMed: Singh 2006 5-generation family, 3 affected M yes India ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A R2030X - ABCA4_000050 - PubMed: Passerini 2010, PubMed: Sodi 2010, PubMed: Testa 2012 - - Germline ? 3, 121402, 0, 0.00002471 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - VUS g.94471056G>A g.94005500G>A c.6088C>T - ABCA4_000050 - PubMed: Ernest 2009 - - Germline - 3, 121402, 0, 0.00002471 - - - 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.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A c.6088C>T - ABCA4_000050 - PubMed: Zernant 2011 - - Germline - 3, 121402, 0, 0.00002471 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - VUS g.94471056G>A g.94005500G>A c.6088C>T - ABCA4_000050 - PubMed: Zernant 2011 - - Germline - 3, 121402, 0, 0.00002471 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A R2030X - ABCA4_000050 - PubMed: Testa 2012 - - Germline yes 3, 121402, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A R2030X - ABCA4_000050 - PubMed: Testa 2012 - - Germline ? 3, 121402, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A Arg2030term - ABCA4_000050 - PubMed: Oldani 2012 - - Germline ? 3, 121402, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic g.94471056G>A g.94005500G>A c.6088C>T - ABCA4_000050 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 121402, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Maternal (confirmed) - pathogenic g.94471056G>A g.94005500G>A p.R2030* - ABCA4_000050 - PubMed: Duncker 2015 - - Germline ? 3, 121402, 0, 0.00002471 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - white - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(6088c>u) p.(Arg2030Ter) Parent #1 ACMG pathogenic (recessive) g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Parent #1 - pathogenic g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Unknown - pathogenic g.94471056G>A g.94005500G>A ABCA4(NM_000350.3):c.6088C>T (p.R2030*) - ABCA4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Unknown - pathogenic g.94471056G>A g.94005500G>A ABCA4(NM_000350.3):c.6088C>T (p.R2030*) - ABCA4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6088C>T r.(?) p.(Arg2030*) Paternal (confirmed) ACMG pathogenic (recessive) g.94471056G>A - - - ABCA4_000050 - Zixi Sun 2020, submmitted - - Germline - - - - - DNA SEQ-NG - gene panel CORD 2407 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.6088C>T r.(?) p.(Arg2030*) Unknown ACMG pathogenic g.94471056G>A - - - ABCA4_000050 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel CORD 3964 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+/. - c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A - 1:94471056G>A ENST00000370225.3:c.6088C>T (Arg2030Ter) - ABCA4_000050 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001419 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A - 1:94471056G>A ENST00000370225.3:c.6088C>T (Arg2030Ter) - ABCA4_000050 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000144 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.6088C>T r.(?) p.(Arg2030*) Parent #1 - pathogenic (recessive) g.94471056G>A - - - ABCA4_000050 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam8PatFBP_9 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+?/. - c.6088C>T r.(?) p.(Arg2030*) Parent #2 - likely pathogenic g.94471056G>A g.94005500G>A 2588G>C/6088C>T - ABCA4_000050 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 709 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.6088C>T r.(?) p.(Arg2030*) Parent #2 - likely pathogenic g.94471056G>A g.94005500G>A 2588G>C/6088C>T - ABCA4_000050 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 874 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown ACMG pathogenic g.94471056G>A - - - ABCA4_000050 - Mena et al., 2020 submitted - rs61751383 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. - c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP028 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Parent #1 - pathogenic (recessive) g.94471056G>A g.94005500G>A p.R2030X - ABCA4_000050 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10108 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic (recessive) g.94471056G>A g.94005500G>A NM_000350.2:c.6088C.T p.Arg2030* - ABCA4_000050 - PubMed: Watson 2014 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease MA2 2844 PubMed: Watson 2014 Father of cases 2845 and 2843 M yes United Kingdom (Great Britain) adopted - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic (recessive) g.94471056G>A g.94005500G>A NM_000350.2:c.6088C.T p.Arg2030* - ABCA4_000050 no variant 2nd chromosome PubMed: Watson 2014 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease MA2 2845 PubMed: Watson 2014 Family member (son and brother) of cases 2844 and 2843 M no United Kingdom (Great Britain) adopted - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic (recessive) g.94471056G>A g.94005500G>A NM_000350.2:c.6088C.T p.Arg2030* - ABCA4_000050 no variant 2nd chromosome PubMed: Watson 2014 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease MA2 2843 PubMed: Watson 2014 Family member (son and brother) of cases 2844 and 2845 M no United Kingdom (Great Britain) adopted - - - - 3 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.R2030X - ABCA4_000050 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 21316 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.(Arg2030*) - ABCA4_000050 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 32 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T (p.Arg2030*) - ABCA4_000050 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3650 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T (p.Arg2030*) - ABCA4_000050 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3315 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Both (homozygous) - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.Arg2030* † - ABCA4_000050 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 30 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.(Arg2030*) - ABCA4_000050 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0918 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A ENST00000370225.3:c.6088C>T p.Arg2030Ter 0/1 - ABCA4_000050 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G001419 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T (p.Arg2030*) [26] - ABCA4_000050 - PubMed: Huang 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP028 PubMed: Huang 2018 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.(Arg2030*) - ABCA4_000050 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 325 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.(Arg2030*) - ABCA4_000050 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2407 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.(Arg2030*) - ABCA4_000050 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3964 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T, p.Arg2030* Heterozygous - ABCA4_000050 - PubMed: Goetz 2020 - - Unknown - 3, 121402, 0, 0.00002471 - - - DNA SEQ - - retinal disease 431-930 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T, p.Arg2030Ter heterozygous - ABCA4_000050 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121402, 0, 0.00002471 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6463-900 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Parent #2 - pathogenic (recessive) g.94471056G>A g.94005500G>A p.R2030X - ABCA4_000050 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10198 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Parent #2 - pathogenic (recessive) g.94471056G>A g.94005500G>A p.R2030X - ABCA4_000050 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10052 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C >T (p.Arg2030term) - ABCA4_000050 - PubMed: Giani 2012 - - Unknown - - - - - DNA ? - - retinal disease Unknown 313 PubMed: Giani 2012 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Parent #2 - pathogenic (recessive) g.94471056G>A g.94005500G>A p.[Arg653Cys];[Arg2030*] - ABCA4_000050 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 2* PubMed: Fujinami 2015 - - yes United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A p.[Gly863Ala(;)Glu1122Lys(;)Arg2030*] - ABCA4_000050 - PubMed: Fujinami 2015 - - Unknown - - - - - DNA ? - - retinal disease 25 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.R2030X - ABCA4_000050 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20815 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T (p.Arg2030*) - ABCA4_000050 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4514 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T (p.Arg2030*) - ABCA4_000050 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3981 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T (p.Arg2030*) - ABCA4_000050 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3978 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T (p.Arg2030*) - ABCA4_000050 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5010 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A p.R2030* - ABCA4_000050 - PubMed: Tanaka 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Tanaka 2018 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T,p.Arg2030Ter - ABCA4_000050 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14020 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T,p.Arg2030Ter - ABCA4_000050 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14021 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T,p.Arg2030Ter - ABCA4_000050 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14073 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T,p.Arg2030Ter - ABCA4_000050 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17032 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.(R2030*) - ABCA4_000050 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Lee 2018 - M ? United States white - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.Arg2030* - ABCA4_000050 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A 6088C>T - ABCA4_000050 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 26. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.R2030* - ABCA4_000050 - PubMed: Liu 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - - retinal disease RP01-II:1 PubMed: Liu 2020 Two additional variants were found in USH2A (c.1624A>G p.S542G and c.4758+3A>G) M ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.(Arg2030*) - ABCA4_000050 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0626 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A ENST00000370225.3:c.6088C>T p.Arg2030Ter 0/1 - ABCA4_000050 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease W000144 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.(Arg2030*) - ABCA4_000050 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 13 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T p.Arg2030* het - ABCA4_000050 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-134-063 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T, p.Arg2030Stop Heterozygous - ABCA4_000050 - PubMed: Goetz 2020 - - Unknown - 3, 121402, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1007-1558 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T, p.Arg2030Stop Heterozygous - ABCA4_000050 - PubMed: Goetz 2020 - - Unknown - 3, 121402, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1960-3451 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T, p.Arg2030* Heterozygous - ABCA4_000050 - PubMed: Goetz 2020 - - Unknown - 3, 121402, 0, 0.00002471 - - - DNA SEQ - - retinal disease 355-1740 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A g.94005500G>A c.6088C>T, p.Arg2030Ter Heterozygous - ABCA4_000050 - PubMed: Goetz 2020 - - Unknown - 3, 121402, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5229-6319 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Both (homozygous) - pathogenic g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Watson 2014 - - Germline - - - - - DNA SEQ-NG - 162-gene panel retinal disease MA2 PubMed: Watson 2014 family - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic g.94471056G>A g.94005500G>A ABCA4 c.6088C>T, p.Arg2030Ter - ABCA4_000050 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000144 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic g.94471056G>A g.94005500G>A ABCA4 c.6088C>T, p.Arg2030Ter - ABCA4_000050 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001419 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic g.94471056G>A - c.6088C>T - ABCA4_000050 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. - c.6088C>T r.(?) p.(Arg2030Ter) Unknown ACMG likely pathogenic g.94471056G>A g.94005500G>A ABCA4 c.C6088T, p.R2030X - ABCA4_000050 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 81 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic (recessive) g.94471056G>A - c.6088C>T - ABCA4_000050 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - likely pathogenic (recessive) g.94471056G>A - c.6088C>T - ABCA4_000050 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Parent #1 - pathogenic (recessive) g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Parent #1 - pathogenic (recessive) g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Parent #1 - pathogenic (recessive) g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Parent #2 - pathogenic (recessive) g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Parent #2 - pathogenic (recessive) g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Parent #2 - pathogenic (recessive) g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6088C>T r.(?) p.(Arg2030Ter) Parent #2 - pathogenic (recessive) g.94471056G>A g.94005500G>A - - ABCA4_000050 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A - c.6088C>T - ABCA4_000050 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70734 PubMed: Khan 2020 - M - Czech Republic - - - - - 1 LOVD
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A - c.6088C>T - ABCA4_000050 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70754 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A - c.6088C>T - ABCA4_000050 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70886 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A - c.6088C>T - ABCA4_000050 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70912 PubMed: Khan 2020 - F - Israel - - - - - 1 LOVD
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A - c.6088C>T(;)5603A>T - ABCA4_000050 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71122 PubMed: Khan 2020 - F - Slovenia - - - - - 1 LOVD
+/. 44 c.6088C>T r.(?) p.(Arg2030*) Unknown - pathogenic (recessive) g.94471056G>A - c.6088C>T - ABCA4_000050 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66806 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
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