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.

61 entries on 1 page. Showing entries 1 - 61.
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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     

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Data_av     

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Owner     
+?/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - likely pathogenic g.94528164G>A g.94062608G>A Gln636Stop CAG>TAG - ABCA4_000267 - PubMed: Schindler 2010 - - Germline ? - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - likely pathogenic g.94528164G>A g.94062608G>A p.Q636X - ABCA4_000267 - PubMed: Strom 2012 - - Germline - - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Strom 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic g.94528164G>A g.94062608G>A c.1906C>T - ABCA4_000267 - PubMed: Fujinami 2013 - - Germline ? - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic g.94528164G>A g.94062608G>A c.1906C>T - ABCA4_000267 - PubMed: Fujinami 2013 - - Germline ? - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - likely pathogenic g.94528164G>A g.94062608G>A c.1906C>T - ABCA4_000267 - PubMed: Fujinami 2013, PubMed: Zernant 2011 - - Germline ? - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013, PubMed: Zernant 2011 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(1906c>u) p.(Gln636Ter) Parent #1 ACMG pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A - 1:94528164G>A ENST00000370225.3:c.1906C>T (Gln636Ter) - ABCA4_000267 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240094 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1906C>T r.(?) p.(Gln636*) Parent #2 - likely pathogenic g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 726 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1906C>T r.(?) p.(Gln636*) Unknown - likely pathogenic g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13015639 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1906C>T r.(?) p.(Gln636*) Unknown - likely pathogenic g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13002608 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C > T - ABCA4_000267 - PubMed: Fujinami 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Case 3 PubMed: Fujinami 2014 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T (p.Gln636*) - ABCA4_000267 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3162 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T, p.Gln636Ter - ABCA4_000267 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14046 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T, p.Gln636Ter - ABCA4_000267 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14054 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A ABCA4 c.1906C>T p.(Gln636Ter) het - ABCA4_000267 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13002608 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A ABCA4 c.1906C>T p.(Gln636Ter) het - ABCA4_000267 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13015639 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Gln636Ter - ABCA4_000267 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0403 PubMed: Georgiou 2019 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 19820 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 19825 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 19969 PubMed: Fakin 2016PubMed: Fakin 2016 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 15929 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 16852 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 18020 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 19800 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 19969 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 5270 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T Q636X - ABCA4_000267 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 17024 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T Q636X - ABCA4_000267 - PubMed: Fakin 2016PubMed: Georgiou 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 22355; MM_0383 PubMed: Fakin 2016PubMed: Georgiou 2019 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T - ABCA4_000267 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 659 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Parent #2 - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T Gln636Stop CAG>TAG - ABCA4_000267 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 726 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T, p.Gln636Ter - ABCA4_000267 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14065 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C.T (p.Q636*) - ABCA4_000267 - PubMed: Collison 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 21 PubMed: Collison 2019 - F ? United States white - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C.T p.Gln636Ter - ABCA4_000267 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P32 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A ENST00000370225.3:c.1906C>T p.Gln636Ter 0/1 - ABCA4_000267 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease B240094 PubMed: Carss 2017 - F ? England - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Gln636* Het - ABCA4_000267 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2015-218-020 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A c.1906C>T p.Gln636* het - ABCA4_000267 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2016-244-043 Prevention Genetics - - ? - white;Great Britain (United Kingdom) - - - - 1 Stéphanie Cornelis
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A - c.1906C>T (p.Q636X) - ABCA4_000267 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease G04-1886 PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/T, C/C respectively. Unknown 2nd chromosome. M ? Germany - - - - - 1 LOVD
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A - c.1906C>T - ABCA4_000267 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70558 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 13 c.1906C>T r.(?) p.(Gln636*) Unknown - pathogenic (recessive) g.94528164G>A - c.1906C>T - ABCA4_000267 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70951 PubMed: Khan 2020 - M - Australia - - - - - 1 LOVD
+/. 13 c.1906C>T r.(?) p.(Gln636Ter) Parent #1 - pathogenic g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Pat41 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+/. 13 c.1906C>T r.(?) p.(Gln636*) Parent #1 ACMG pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat12 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 13 c.1906C>T r.(?) p.(Gln636*) Parent #1 ACMG pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat214 PubMed: Corradi 2023, Journal: Corradi 2023 - - - - - - - - - 1 Zelia Corradi
+/. 13 c.1906C>T r.(?) p.(Gln636*) Parent #2 ACMG pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat220 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-21 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-82 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-64 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-129 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown ACMG pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-163 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown ACMG pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-99 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-135 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-210 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-211 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-141 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-68 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-mild-141 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-311 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-323 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-347 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-375 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-429 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-440 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1906C>T r.(?) p.(Gln636Ter) Unknown - pathogenic (recessive) g.94528164G>A g.94062608G>A - - ABCA4_000267 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-448 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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