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.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

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Owner     
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Maternal (confirmed) - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 251ins4 - ABCA4_000227 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Maternal (confirmed) - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 251ins4 - ABCA4_000227 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 034-039; 2-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Paternal (inferred) - pathogenic g.94577046_94577049dup g.94111490_94111493dup 251ins4 - ABCA4_000227 - PubMed: Briggs 2001 - - Germline ? - - - - DNA SSCA, SEQ - - CORD - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Maternal (inferred) - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250▼ƒCAAA - ABCA4_000227 - PubMed: Simonelli 2000 - - Germline - - - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 3-generation family, 2 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Maternal (inferred) - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250▼ƒCAAA - ABCA4_000227 - PubMed: Simonelli 2000 - - Germline - - - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 3-generation family, 2 affected M ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250▼ƒCAAA - ABCA4_000227 - PubMed: Simonelli 2000, PubMed: Testa 2012 - - Germline - - - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000, PubMed: Testa 2012 3-generation family, 1 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Paternal (confirmed) - pathogenic g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - VUS g.94577046_94577049dup g.94111490_94111493dup 250>251insCAAA - ABCA4_000227 - PubMed: Stenirri 2004 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - ? - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 - PubMed: Simonelli 2005 - - Germline ? - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - VUS g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 found no variant 2nd chromosome PubMed: Passerini 2010 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - VUS g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 found no variant 2nd chromosome PubMed: Passerini 2010 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - VUS g.94577046_94577049dup g.94111490_94111493dup c.250_251insCAAA - ABCA4_000227 - PubMed: Stenirri 2008 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup c.250_251insCAAA - ABCA4_000227 - PubMed: Zernant 2011 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup c.250_251insCAAA - ABCA4_000227 - PubMed: Zernant 2011 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - VUS g.94577046_94577049dup g.94111490_94111493dup c.250_251insCAAA - ABCA4_000227 - PubMed: Zernant 2011 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic g.94577046_94577049dup g.94111490_94111493dup c.250_251insCAAA - ABCA4_000227 - PubMed: Zernant 2011 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250InsCAAA - ABCA4_000227 - PubMed: Testa 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250InsCAAA - ABCA4_000227 - PubMed: Testa 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250InsCAAA - ABCA4_000227 - PubMed: Testa 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 - PubMed: Testa 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - VUS g.94577046_94577049dup g.94111490_94111493dup c.250_251insCAAA - ABCA4_000227 - PubMed: Burke 2014 - - Germline - - - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - F ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - VUS g.94577046_94577049dup g.94111490_94111493dup c.250_251insCAAA - ABCA4_000227 - PubMed: Duncker 2015 - - Germline - - - - - DNA PE, SEQ, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - F ? - White - - - - 1 Stéphanie Cornelis
?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - VUS g.94577046_94577049dup g.94111490_94111493dup c.247_250dup - ABCA4_000227 - PubMed: Duncker 2015 - - Germline - - - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - white - - - - 1 Stéphanie Cornelis
-?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely benign g.94577046_94577049dup g.94111490_94111493dup p.S84fs - ABCA4_000227 - PubMed: Duncker 2015 - - Germline - - - - - DNA PE - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(247_250dup) p.(Ser84ThrfsTer16) Parent #1 ACMG pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown ACMG pathogenic g.94577046_94577049dup - - - ABCA4_000227 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F - Argentina - - - - - 1 Marcela Mena
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.250_251insCAAA - ABCA4_000227 no variant 2nd chromosome PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 20 PubMed: Duncker 2014 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 - PubMed: Olivo 2015 - - Unknown - - - - - DNA ? - - retinal disease Unknown 325 PubMed: Olivo 2015 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup 250insCAAA - ABCA4_000227 - PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 338; 15; C3 PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup (p.Ser84Thrfs*16) - ABCA4_000227 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 17 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Parent #1 - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup (p.Ser84fs) - ABCA4_000227 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 9084 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup (p.Ser84fs) - ABCA4_000227 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3231 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Parent #1 - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup (p.Ser84fs) - ABCA4_000227 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 7203 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup (p.Ser84fs) - ABCA4_000227 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3045 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup (p.Ser84fs) - ABCA4_000227 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3316 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup p.Ser84Thrfs*16 - ABCA4_000227 - PubMed: Melillo 2018 - - Unknown - - - - - DNA ? - - retinal disease 1 PubMed: Melillo 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup (p.Ser84Thrfs?15) - ABCA4_000227 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup 250insCAAA; - ABCA4_000227 - PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease T1 PubMed: Melillo 2020 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup p.(Ser84Thrfs*16) - ABCA4_000227 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 10 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dupCAAA p.Ser84Thrfs*16 het - ABCA4_000227 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-125-147 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dupCAAA p.Ser84Thrfs*16 het - ABCA4_000227 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-272-116 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Both (homozygous) - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dupCAAA p.Ser84Thrfs*16 Hom - ABCA4_000227 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-200-168 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Both (homozygous) - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dupCAAA, p.Ser84Thrfs*16 Homozygous - ABCA4_000227 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 1498-2069 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dup - ABCA4_000227 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 4930-5998 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.250InsCAAA, p.Ser84fs heterozygous - ABCA4_000227 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6418-736 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup Het NM_000350: c.247_250dupCAAA; - ABCA4_000227 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup Het NM_000350: c.247_250dupCAAA; - ABCA4_000227 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 31 PubMed: Abed 2018 Sibling of patient 32 M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup Het NM_000350: c.247_250dupCAAA; - ABCA4_000227 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 32 PubMed: Abed 2018 Sibling of patient 31 M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_258insCAAA p.Gln83ProfsTer17 - ABCA4_000227 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P1 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250insCAAA p.Gln83ProfsTer17 - ABCA4_000227 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P33 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Maternal (confirmed) - pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup c.247_250dupCAAA (p.Ser84fs) [M] - ABCA4_000227 - PubMed: Ibanez 2020 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease Patient 10 PubMed: Ibanez 2020 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. - c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup g.94111490_94111493dup ABCA4 c.247_250dup, p.Ser84ThrfsTer16 - ABCA4_000227 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2880_004465 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - likely pathogenic g.94577046_94577049dup - c.247_250dup - ABCA4_000227 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup - c.247_250dup - ABCA4_000227 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - - retinal disease 70531 PubMed: Khan 2020 - M - Italy - - - - - 1 LOVD
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup - c.247_250dup - ABCA4_000227 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70536 PubMed: Khan 2020 - M - Italy - - - - - 1 LOVD
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Unknown - pathogenic (recessive) g.94577046_94577049dup - c.247_250dup - ABCA4_000227 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70717 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Paternal (confirmed) ACMG pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#17 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Parent #1 ACMG pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat51 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Parent #1 ACMG pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat57 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Parent #1 ACMG pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat58 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 3 c.247_250dup r.(?) p.(Ser84Thrfs*16) Parent #1 ACMG pathogenic (recessive) g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat130 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 3 c.247_250dup r.(?) p.(Ser84ThrfsTer16) Parent #1 ACMG pathogenic g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073554 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 3 c.247_250dup r.(?) p.(Ser84ThrfsTer16) Parent #1 ACMG pathogenic g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073735 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 3 c.247_250dup r.(?) p.(Ser84ThrfsTer16) Parent #1 ACMG pathogenic g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074098 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 3 c.247_250dup r.(?) p.(Ser84ThrfsTer16) Parent #1 ACMG pathogenic g.94577046_94577049dup g.94111490_94111493dup - - ABCA4_000227 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074099 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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