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.

82 entries on 1 page. Showing entries 1 - 82.
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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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Age at death     

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+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic g.94544895G>A g.94079339G>A 1222C>T - ABCA4_000329 - PubMed: Webster 2001 - - Germline - ExAC 3, 121410, 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
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic g.94544895G>A g.94079339G>A c.1222C>T - ABCA4_000329 - PubMed: Zernant 2011, PubMed: Duncker 2015 - - Germline - 3, 121410, 0, 0.00002471 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011, PubMed: Duncker 2015 - M ? - Asian - - - - 1 Stéphanie Cornelis
+?/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - likely pathogenic g.94544895G>A g.94079339G>A p.Arg408* - ABCA4_000329 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - - Germline - 3, 121410, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - likely pathogenic g.94544895G>A g.94079339G>A c.1222C>T - ABCA4_000329 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 121410, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - likely pathogenic g.94544895G>A g.94079339G>A c.1222C>T - ABCA4_000329 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 121410, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic g.94544895G>A g.94079339G>A c.1222C>T - ABCA4_000329 - PubMed: Fujinami 2013 - - Germline - 3, 121410, 0, 0.00002471 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 9 c.1222C>T r.(?) p.(Arg408*) Paternal (confirmed) - likely pathogenic g.94544895G>A g.94079339G>A p.R408* - ABCA4_000329 - PubMed: Duncker 2015 - - Germline - 3, 121410, 0, 0.00002471 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - Asian - - - - 1 Stéphanie Cornelis
+?/. 9 c.1222C>T r.(?) p.(Arg408*) Paternal (confirmed) - likely pathogenic g.94544895G>A g.94079339G>A p.R408* - ABCA4_000329 - PubMed: Duncker 2015 - - Germline - 3, 121410, 0, 0.00002471 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - Asian - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.1222c>u p.(Arg408Ter) Parent #1 ACMG pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic g.94544895G>A g.94079339G>A ABCA4(NM_000350.3):c.1222C>T (p.R408*) - ABCA4_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1222C>T r.(?) p.(Arg408*) Maternal (confirmed) ACMG pathogenic g.94544895G>A - - - ABCA4_000329 no variant on 2nd allele identified Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel STGD 3001 Zixi Sun 2020, submitted - F - China - - - - - 2 Zixi Sun
+/. - c.1222C>T r.(?) p.(Arg408*) Unknown ACMG pathogenic g.94544895G>A - - - ABCA4_000329 no variant on 2nd allele identified Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD SRF844 Zixi Sun 2020,submitted - F - China - - - - - 1 Zixi Sun
+/. - c.1222C>T r.(?) p.(Arg408*) Unknown ACMG pathogenic g.94544895G>A - - - ABCA4_000329 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 3999 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+?/. - c.1222C>T r.(?) p.(Arg408Ter) Parent #2 - likely pathogenic g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Bravo-Gil 2017 - - Germline yes - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat4 PubMed: Bravo-Gil 2017 family - - Spain - - - - - 1 Nereida Bravo Gil
+/. 9 c.1222C>T r.(?) p.(Arg408*) Paternal (inferred) - pathogenic (recessive) g.94544895G>A g.94079339G>A R408X - ABCA4_000329 - PubMed: Wiszniewski 2005 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease AR689-03 PubMed: Wiszniewski 2005 has an affected younger brother M no United States - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A Arg408Ter - ABCA4_000329 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 98 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.R408X - ABCA4_000329 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 16952 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.(R408*) - ABCA4_000329 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 398 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Parent #1 - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T (p.Arg408*) - ABCA4_000329 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4333 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Parent #1 - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T (p.Arg408*) - ABCA4_000329 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3240 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T (p.Arg408*) - ABCA4_000329 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4115 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A p.R408* - ABCA4_000329 - PubMed: Tanaka 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5 PubMed: Tanaka 2018 - M ? - Asia - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A p>R408X; - ABCA4_000329 - PubMed: Light 2017 - - Unknown - - - - - DNA ? - - retinal disease P6 PubMed: Light 2017 - M ? United States white - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Both (homozygous) - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T - ABCA4_000329 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A018 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.(Arg408*) - ABCA4_000329 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0748 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.(Arg408*) - ABCA4_000329 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1075 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222G>A p.(Arg408*) - ABCA4_000329 - PubMed: Wang 2019 - - Unknown yes - - - - DNA SEQ-NG-I - OTSP retinal disease #13440 PubMed: Wang 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.Arg408Ter - ABCA4_000329 no variant 2nd chromosome PubMed: Gao 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1223 PubMed: Gao 2019 variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well. - ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222 C>T - ABCA4_000329 no variant 2nd chromosome PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 2 PubMed: Alabduljalil 2019 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A p.R408* - ABCA4_000329 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 28 PubMed: Chen 2019 - M ? - Asia - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Maternal (inferred) - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.(Arg408*) - ABCA4_000329 no variant 2nd chromosome PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3001 PubMed: Sun 2020 niece of patient SRF844 F ? China China - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.(Arg408*) - ABCA4_000329 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3754 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.(Arg408*) - ABCA4_000329 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3999 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.(Arg408*) - ABCA4_000329 no variant 2nd chromosome PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease SRF844 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Paternal (confirmed) - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222 C > T, (p.Arg408Ter) [P] - ABCA4_000329 - PubMed: Ibanez 2020 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease Patient 10 PubMed: Ibanez 2020 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.Arg408* Het - ABCA4_000329 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-205-238 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T, p.Arg408Stop Heterozygous - ABCA4_000329 - PubMed: Goetz 2020 - - Unknown - 3, 121410, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2928-3653 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T, p.Arg408Stop Heterozygous - ABCA4_000329 - PubMed: Goetz 2020 - - Unknown - 3, 121410, 0, 0.00002471 - - - DNA SEQ - - retinal disease 2929-3653 PubMed: Goetz 2020 2929 is a family member of 2928 - ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T, p.Arg408Stop Heterozygous - ABCA4_000329 - PubMed: Goetz 2020 - - Unknown - 3, 121410, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2933-3659 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T, p.Arg408Stop Heterozygous - ABCA4_000329 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121410, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3218-3987 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T, p.Arg408Ter Heterozygous - ABCA4_000329 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121410, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4669-5673 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.R408X - ABCA4_000329 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 22520 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Parent #2 - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C> T p.R408* - ABCA4_000329 - PubMed: Bravo-Gil 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Bravo-Gil 2017 - F ? Spain - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Parent #2 - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T p.(Arg408*) - ABCA4_000329 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC09374 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T - ABCA4_000329 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A011 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T - ABCA4_000329 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A019 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A c.1222C>T - ABCA4_000329 - PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 10 PubMed: Alabduljalil 2019 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. - c.1222C>T r.(?) p.(Arg408*) Unknown ACMG pathogenic g.94544895G>A - - - ABCA4_000329 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - STGD IR_SH_0044 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.1222C>T r.(?) p.(Arg408*) Both (homozygous) ACMG pathogenic g.94544895G>A - - - ABCA4_000329 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - STGD IR_GH_0058 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - likely pathogenic g.94544895G>A g.94079339G>A ABCA4 Ex.9 c.1222C>T p.(Arg408*), IVS38 c.5461-1G>T p.(?) - ABCA4_000329 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2143 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. - c.1222C>T r.1222c>u p.Arg408* Maternal (confirmed) ACMG pathogenic (maternal) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Tian 2022, PubMed: Tian 2022, PubMed: Tian 2024 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 010444 PubMed: Tian 2022, PubMed: Tian 2022, PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1222C>T r.(?) p.(Arg408Ter) Parent #1 - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1222C>T r.(?) p.(Arg408Ter) Parent #1 - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1222C>T r.(?) p.(Arg408Ter) Parent #1 - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1222C>T r.(?) p.(Arg408Ter) Parent #1 - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1222C>T r.(?) p.(Arg408Ter) Parent #1 - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A - c.1222C>T - ABCA4_000329 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71293 PubMed: Khan 2020 - M - Spain - - - - - 1 LOVD
+/. 9 c.1222C>T r.(?) p.(Arg408*) Unknown - pathogenic (recessive) g.94544895G>A - c.1222C>T - ABCA4_000329 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71318 PubMed: Khan 2020 - M - - - - - - - 1 LOVD
+/. 9 c.1222C>T r.(?) p.(Arg408*) Parent #1 ACMG pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat233 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0035 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0163 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0169 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0488 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0534 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Both (homozygous) - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0599 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0634 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0701 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0711 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0828 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0937 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0958 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Parent #1 - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1070 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1094 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Both (homozygous) - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0599 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-27 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-123 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown ACMG pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-101 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-312 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-214 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-419 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1222C>T r.(?) p.(Arg408Ter) Unknown - pathogenic (recessive) g.94544895G>A g.94079339G>A - - ABCA4_000329 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-431 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 9 c.1222C>T r.(1222c>u) p.(Arg408Ter) Unknown ACMG pathogenic g.94544895G>A g.94079339G>A - - ABCA4_000329 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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