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.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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?/. 48i c.6729+5_6729+19del r.spl? p.(?) Both (homozygous) - VUS g.94463399_94463413del g.93997843_93997857del c.6729_5_19del15 - ABCA4_000851 - PubMed: Littink 2010 - - Germline ? - - - - DNA SEQ - - CORD - PubMed: Littink 2010 - ? no Canada Pakistani - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.spl? p.(?) Unknown - likely pathogenic g.94463399_94463413del g.93997843_93997857del c.6729+4_+18delAGTTGGCCCTGGGGC - ABCA4_000851 - PubMed: Fujinami 2013 - - Germline ? - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.spl? p.(?) Unknown - likely pathogenic g.94463399_94463413del g.93997843_93997857del c.6729+4_+18del - ABCA4_000851 - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - M ? India ? - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.Phe2161CysfsTer3 Parent #1 ACMG likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6729+5_6729+19del r.spl? p.? Parent #1 - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian - - - - 29 Jana Zernant
+?/. - c.6729+5_6729+19del r.spl? p.? Parent #1 - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian - - - - 29 Jana Zernant
+/. 48i c.6729+5_6729+19del r.(?) p.? Both (homozygous) - pathogenic g.94463399_94463413del g.93997843_93997857del 1:94463397_GTGCCCCAGGGCCAAC>G - ABCA4_000851 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH5705_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
+/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs∗3) Unknown - NA g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 expression cloning midigene splicing construct: no correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6729+5_6729+19del r.spl? p.? Unknown - VUS g.94463399_94463413del g.93997843_93997857del ABCA4(NM_000350.3):c.6729+5_6729+19delGTTGGCCCTGGGGCA - ABCA4_000851 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6729+5_6729+19del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.94463398_94463412del - 1:94463397GTGCCCCAGGGCCAAC>G ENST00000370225.3:c.6729+5_6729+19delGTTGGCCCTGGGGCA - ABCA4_000851 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007758 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. 48i c.6729+5_6729+19del r.spl p.? Parent #2 - pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del 6729+19del13 - ABCA4_000851 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat74 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. - c.6729+5_6729+19del r.spl? p.? Unknown - pathogenic g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Haer-Wigman 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel ? 3362 PubMed: Haer-Wigman 2017 family - yes Netherlands - - - - - 1 LOVD
+/. - c.6729+5_6729+19del r.spl? p.? Unknown - pathogenic g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Haer-Wigman 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel ? 3362 PubMed: Haer-Wigman 2017 family - yes Netherlands - - - - - 1 LOVD
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 19213,1 PubMed: Fakin 2016 sibling of 19213.2 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 19213,2 PubMed: Fakin 2016 sibling of 19213.1 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20868 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 21140,1 PubMed: Fakin 2016 sibling of 21140.2 and 21140.3 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 21140,2 PubMed: Fakin 2016 sibling of 21140.1 and 21140.3 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 21140,3 PubMed: Fakin 2016 sibling of 21140.1 and 21140.2 - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4_6729+18del p.(?) - ABCA4_000851 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease MEH 15 PubMed: Lambertus 2017 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4_6729+18del p.(?) - ABCA4_000851 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease MEH 17 PubMed: Lambertus 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration - ABCA4_000851 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14096 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration - ABCA4_000851 no variant 2nd chromosome PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14105 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19delGTTGGCCCTGGGGCA - ABCA4_000851 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P40 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19delGTTGGCCCTGGGGCA - ABCA4_000851 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P41 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19del15 - ABCA4_000851 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1147 PubMed: Hull 2020 - - ? New Zealand India - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19del15 - ABCA4_000851 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1148 PubMed: Hull 2020 - - ? New Zealand India - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_6729+19del p.(Phe2161Cysfs*3) Hom - ABCA4_000851 - PubMed: Méjécase 2020 - - Unknown - - - - - DNA ? - - retinal disease Family 29 PubMed: Méjécase 2020 - - ? United Arab Emirates Dubai - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_6729+19del15 - ABCA4_000851 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-064-149 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del ENST00000370225.3:c.6729+5_6729+19delGTTGGCCCTGGGGCA NA 1/1 - ABCA4_000851 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007758 PubMed: Carss 2017 - M ? England Asia-S - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_6729+19del r.(spl?) - ABCA4_000851 - PubMed: Haer-Wigman 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease 3362 PubMed: Haer-Wigman 2017 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19del15 p.Phe2161Cysfs*3 - ABCA4_000851 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0047 PubMed: Georgiou 2019 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19delGTTGGCCCTGGGGCA - ABCA4_000851 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0471 PubMed: Georgiou 2019 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19del15, Heterozygous - ABCA4_000851 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2775-4354 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.IVS48+5_19del15, Heterozygous - ABCA4_000851 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 4750-5768 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Parent #1 - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+19del13 - ABCA4_000851 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 74 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Parent #2 - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del p.[Gly1961Glu];c.[6729+4_6729+18del] - ABCA4_000851 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 33 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4_+18del - ABCA4_000851 - PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 4 PubMed: Duncker 2014 - M ? - India - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 19766 PubMed: Fakin 2016PubMed: Fakin 2016 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 21852 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+4del15 Splice - ABCA4_000851 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 22627 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_6729+19del - ABCA4_000851 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90140 PubMed: Lee 2017 - M ? - India - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_6729+19del - ABCA4_000851 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90142 PubMed: Lee 2017 - M ? - India - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Parent #2 - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_6729+19del (p.?) - ABCA4_000851 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3539 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_6729+19del (p.?) - ABCA4_000851 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3928 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration - ABCA4_000851 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12019 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration - ABCA4_000851 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14062 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration - ABCA4_000851 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14096 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del het c.6729+19del13 - ABCA4_000851 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 27 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic g.94463399_94463413del g.93997843_93997857del ABCA4 c.6729+5_6729+19delGTTGGCCCTGGGGCA, - ABCA4_000851 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007758 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Unknown - likely pathogenic g.94463399_94463413del g.93997843_93997857del ABCA4 c.6729+5_6729+19delGTTGGCCCTGGGGCA, - ABCA4_000851 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G012301 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463398_94463412del - c.6729+5_6729+19del - ABCA4_000851 - Sangermano 2018 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71225 PubMed: Khan 2020 - F - United States - - - - - 1 LOVD
+?/. 48i c.6729+5_6729+19del r.6480_6729del p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463398_94463412del - c.6729+5_6729+19del - ABCA4_000851 - Sangermano 2018 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71225 PubMed: Khan 2020 - F - United States - - - - - 1 LOVD
+?/. 48i c.6729+5_6729+19del r.spl? p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic g.94463398_94463412del - c.6729+5_6729+19del - ABCA4_000851 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. 48i c.6729+5_6729+19del r.spl p.Phe2161Cysfs*3 Parent #2 ACMG likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat97 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-46 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-34 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-192 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-264 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-271 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-79 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-280 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-80 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-280 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-301 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-302 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-359 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-442 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Both (homozygous) - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-447 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-147 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-131 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-153 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-157 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-259 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-79 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-204 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-217 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.(6480_6729del) p.(Phe2161Cysfs*3) Unknown - likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-249 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6729+5_6729+19del r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.94463399_94463413del g.93997843_93997857del - - ABCA4_000851 ACMG PM2, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-795 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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