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.

68 entries on 1 page. Showing entries 1 - 68.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

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Owner     
?/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - VUS g.94471026G>A g.94005470G>A R2040X - ABCA4_000791 - PubMed: Baum 2003 - - Germline - ExAC 2, 121394, 0, 0.00001648 - - - DNA PCR, CSGE, SEQ - - STGD1 - PubMed: Baum 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? China Chinese - - - - 1 Stéphanie Cornelis
?/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - VUS g.94471026G>A g.94005470G>A R2040X - ABCA4_000791 - PubMed: Baum 2003 - - Germline - ExAC 2, 121394, 0, 0.00001648 - - - DNA PCR, CSGE, SEQ - - STGD1 - PubMed: Baum 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? China Chinese - - - - 1 Stéphanie Cornelis
?/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - VUS g.94471026G>A g.94005470G>A c.6118C>T - ABCA4_000791 - PubMed: Rosenberg 2007 - - Germline - 2, 121394, 0, 0.00001648 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic g.94471026G>A g.94005470G>A 6118C>T - ABCA4_000791 - PubMed: Downes 2012 - - Germline - 2, 121394, 0, 0.00001648 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic g.94471026G>A g.94005470G>A c.6118C>T - ABCA4_000791 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 2, 121394, 0, 0.00001648 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - likely pathogenic g.94471026G>A g.94005470G>A c.6118C>T - ABCA4_000791 - PubMed: Fujinami 2013 - - Germline ? 2, 121394, 0, 0.00001648 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - likely pathogenic g.94471026G>A g.94005470G>A c.6118C>T - ABCA4_000791 - PubMed: Xin 2015 - - Germline ? 2, 121394, 0, 0.00001648 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 3-generation family, 4 affected M ? China ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic g.94471026G>A g.94005470G>A p.R2040* - ABCA4_000791 - PubMed: Sciezynska 2015 - - Germline - 2, 121394, 0, 0.00001648 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(6118c>u) p.(Arg2040Ter) Parent #1 ACMG pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #2 - VUS g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P31 PubMed: Hu 2019 - F no China Asian - - - none 1 Fangyuan Hu
?/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #1 - VUS g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG - gene panel STGD1 P76 PubMed: Hu 2019 - M no China Asian - - - none 1 Fangyuan Hu
+/. - c.6118C>T r.(?) p.(Arg2040*) Maternal (confirmed) - pathogenic g.94471026G>A g.94005470G>A - - ABCA4_000791 - - - - Germline yes - - - - DNA SEQ-NG blood - STGD1 160 - - F - (China) - >12y - - - 1 Handong Dan
+/. - c.6118C>T r.(?) p.(Arg2040*) Maternal (confirmed) ACMG pathogenic (recessive) g.94471026G>A - - - ABCA4_000791 - Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - - CORD 2217 Zixi Sun 2020, submitted family, 3 affected M - China - - - - - 3 Zixi Sun
+/. - c.6118C>T r.(?) p.(Arg2040*) Unknown ACMG pathogenic (recessive) g.94471026G>A - - - ABCA4_000791 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA PCR - - CORD 2217-1 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.6118C>T r.(?) p.(Arg2040*) Unknown ACMG pathogenic (recessive) g.94471026G>A - - - ABCA4_000791 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA PCR - - CORD 2217-2 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Paternal (confirmed) ACMG pathogenic (recessive) g.94471026G>A - - - ABCA4_000791 - - - - Unknown - - - - - DNA SEQ-NG - gene panel STGD1 B8 - - M no China - >12y - yes none 1 Qing Zhu
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat93 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - likely pathogenic g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/31 PubMed: Riera 2017 family, several affected - - Spain - - - - - 2 LOVD
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T - ABCA4_000791 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P76 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Maternal (confirmed) - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.(Arg2040*) - ABCA4_000791 - PubMed: Dan 2019 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease 160 PubMed: Dan 2019 - F no China Han - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.(Arg2040*) - ABCA4_000791 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 324 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.(Arg2040*) - ABCA4_000791 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2217-1 PubMed: Sun 2020 likely a sibling of patient 2217-2 F ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.(Arg2040*) - ABCA4_000791 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2217-2 PubMed: Sun 2020 likely a sibling of patient 2217-1 M ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.(Arg2040*) - ABCA4_000791 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease SRF1979 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T, p.Arg2040* Heterozygous - ABCA4_000791 - PubMed: Goetz 2020 - - Unknown - 2, 121394, 0, 0.00001648 - - - DNA SEQ - - retinal disease 2340-2975 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #1 - pathogenic (recessive) g.94471026G>A g.94005470G>A p.R2040X - ABCA4_000791 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10092 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A p.R2040X - ABCA4_000791 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10110 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #1 - pathogenic (recessive) g.94471026G>A g.94005470G>A p.R2040X - ABCA4_000791 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10196 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A p.R2040X - ABCA4_000791 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 27005 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #1 - pathogenic (recessive) g.94471026G>A g.94005470G>A p.Arg2040* - ABCA4_000791 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 93 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.R2040X - ABCA4_000791 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 21385 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.R2040X - ABCA4_000791 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 5296 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.R2040X - ABCA4_000791 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 14365 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T (p.Arg2040*) - ABCA4_000791 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3670 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T,p.Arg2040Ter - ABCA4_000791 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14031 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C?>?T Arg2040Ter - ABCA4_000791 - PubMed: Riera 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fi15/31* PubMed: Riera 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C.T p.Arg2040Ter - ABCA4_000791 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P35 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T - ABCA4_000791 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P31 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A het c.6118C>T p.Arg2040* - ABCA4_000791 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 84 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A het c.6118C>T p.Arg2040* - ABCA4_000791 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 86 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T - ABCA4_000791 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F04 P04 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T - ABCA4_000791 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F28 P33 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Maternal (confirmed) - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.(Arg2040*) - ABCA4_000791 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2217 PubMed: Sun 2020 grandson of 2217-2, this allele is inherited from the other side of the family M ? China China - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T p.Arg2040* het - ABCA4_000791 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-196-240 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T, p.Arg2040* Heterozygous - ABCA4_000791 - PubMed: Goetz 2020 - - Unknown - 2, 121394, 0, 0.00001648 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2024-3529 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T, p.Arg2040Stop Heterozygous - ABCA4_000791 - PubMed: Goetz 2020 - - Unknown - 2, 121394, 0, 0.00001648 - - - DNA SEQ - - retinal disease 2500-3140 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T, p.Arg2040* Heterozygous - ABCA4_000791 - PubMed: Goetz 2020 - - Unknown - 2, 121394, 0, 0.00001648 - - - DNA SEQ - - retinal disease 4089-5009 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A c.6118C>T, p.Arg2040* Heterozygous - ABCA4_000791 - PubMed: Goetz 2020 - - Unknown - 2, 121394, 0, 0.00001648 - - - DNA SEQ - - retinal disease 845-1364 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.6118C>T r.(?) p.(Arg2040*) Unknown ACMG pathogenic g.94471026G>A - - - ABCA4_000791 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - STGD IR_GH_0022 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.6118C>T r.(?) p.(Arg2040Ter) Unknown - VUS g.94471026G>A g.94005470G>A ABCA4 c.6118C>T, p.R2040* - ABCA4_000791 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-107 PubMed: Ng 2021 - M ? China - - - - - 1 LOVD
+?/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - likely pathogenic (recessive) g.94471026G>A - c.6118C>T - ABCA4_000791 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 44 c.6118C>T r.(?) p.(Arg2040*) Unknown - likely pathogenic (recessive) g.94471026G>A - c.6118C>T - ABCA4_000791 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.6118C>T r.(?) p.(Arg2040*) Unknown ACMG pathogenic g.94471026G>A g.94005470G>A ABCA4 c.5761G>A(;)6118C>T, V2: c.6118C>T, (p.Arg2040Ter) - ABCA4_000791 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F044 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Unknown - pathogenic g.94471026G>A g.94005470G>A ABCA4 c.5761G>A(;)6118C>T; p.(Arg2040Ter) - ABCA4_000791 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000163; GnomAD_All: 0.0000119 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F044 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0165 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0361 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Parent #2 - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0576 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-22 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-39 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-82 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-189 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-82 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-194 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.6118C>T r.(?) p.(Arg2040Ter) Unknown - pathogenic (recessive) g.94471026G>A g.94005470G>A - - ABCA4_000791 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-84 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-mild-194 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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