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.

44 entries on 1 page. Showing entries 1 - 44.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.6006-609T>A r.(=) p.(=) Unknown - VUS g.94471747A>T g.94006191A>T ABCA4(NM_000350.3):c.6006-609T>A - ABCA4_000882 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 43i c.6006-609T>A r.(?) p.(=) Unknown - likely benign g.94471747A>T g.94006191A>T - - ABCA4_000882 - - - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - - - - - - - - - - - 1 Jana Zernant
-?/. 43i c.6006-609T>A r.(=) p.(=) Parent #2 - likely benign g.94471747A>T g.94006191A>T [4253+43G>A;6006-609T>A] - ABCA4_000882 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamRPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
-?/. 43i c.6006-609T>A r.(=) p.(=) Parent #2 - likely benign g.94471747A>T g.94006191A>T [4253+43G>A;6006-609T>A] - ABCA4_000882 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamDPatIII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
-?/. 43i c.6006-609T>A r.(=) p.(=) Parent #2 - likely benign g.94471747A>T g.94006191A>T [4253+43G>A;6006-609T>A] - ABCA4_000882 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamFPatII2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
-?/. 43i c.6006-609T>A r.(=) p.(=) Parent #2 - likely benign g.94471747A>T g.94006191A>T [4253+43G>A;6006-609T>A] - ABCA4_000882 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamGPatI2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
-?/. 43i c.6006-609T>A r.(=) p.(=) Parent #2 - likely benign g.94471747A>T g.94006191A>T [4253+43G>A;6006-609T>A] - ABCA4_000882 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamHPatI2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
-?/. 43i c.6006-609T>A r.(=) p.(=) Parent #2 - likely benign g.94471747A>T g.94006191A>T [4253+43G>A;6006-609T>A] - ABCA4_000882 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamJPatII3 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
-?/. 43i c.6006-609T>A r.(=) p.(=) Parent #2 - likely benign g.94471747A>T g.94006191A>T [4253+43G>A;6006-609T>A] - ABCA4_000882 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamNPatII3 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Unknown - VUS g.94471747A>T g.94006191A>T c.6006-609T>A (p.?) - ABCA4_000882 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3124 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.6006-609T>A (p.?) - ABCA4_000882 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3023 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Unknown - VUS g.94471747A>T g.94006191A>T c.6006-609T>A (p.?) - ABCA4_000882 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9029 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.6006-609T>A (p.?) - ABCA4_000882 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3782 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Unknown - VUS g.94471747A>T g.94006191A>T c.6006-609T>A (p.?) - ABCA4_000882 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3001 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 10 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 11 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 16 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 17 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 18 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 19 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 20 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] - ABCA4_000882 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 25 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T ND c.[4253+43G>A;6006-609T>A] - ABCA4_000882 no variant 2nd chromosome PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 27 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_000882 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease D-III:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_000882 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease F-II:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_000882 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease G-I:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_000882 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease H-I:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_000882 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease J-II:3 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_000882 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease N-II:3 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Unknown - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_000882 - PubMed: Sangermano 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease R-II:1 PubMed: Sangermano 2019 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_000882 - PubMed: Sangermano 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease X-II:1 PubMed: Sangermano 2019 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T [4253+43G>A; 6006-609T>A] - ABCA4_000882 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P1G2 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Unknown - VUS g.94471747A>T g.94006191A>T [4253+43G>A; 6006-609T>A] - ABCA4_000882 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P5G16 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T [4253+43G>A; 6006-609T>A] - ABCA4_000882 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P11T2 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #2 - VUS g.94471747A>T g.94006191A>T [4253+43G>A; 6006-609T>A] - ABCA4_000882 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P7G7 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Unknown - VUS g.94471747A>T g.94006191A>T [4253+43G>A; 6006-609T>A] - ABCA4_000882 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P8T2 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 43i c.6006-609T>A r.= p.(=) Parent #1 - VUS g.94471747A>T g.94006191A>T c.[4253+43G>A;6006_609T>A] - ABCA4_000882 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 16 PubMed: Chen 2019 - M ? - white - - - - 1 Stéphanie Cornelis
-?/. 43i c.6006-609T>A r.= p.(=) Unknown ACMG likely benign g.94471747A>T g.94006191A>T - - ABCA4_000882 ACMG BS3_sup, BP4_m Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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