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.

66 entries on 1 page. Showing entries 1 - 66.
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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     
?/. 30i c.4539+2064C>T r.(?) p.(?) Maternal (confirmed) - VUS g.94492937G>A g.94027381G>A c.[4539+2064C>T; 5461-1389A>G] - ABCA4_000529 - PubMed: Zernant 2014 - - Germline yes - - - - DNA arrayCGH, SEQ-NG-R, SEQ-NG-I, SEQ - - STGD1 - PubMed: Zernant 2014 - M yes - USA, Spain, Italy or Denmark - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(?) Maternal (confirmed) - VUS g.94492937G>A g.94027381G>A c.[4539+2064C>T; 5461-1389A>G] - ABCA4_000529 - PubMed: Zernant 2014 - - Germline yes - - - - DNA arrayCGH, SEQ-NG-R, SEQ-NG-I, SEQ - - STGD1 - PubMed: Zernant 2014 - M ? - USA, Spain, Italy or Denmark - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(?) Parent #1 - VUS g.94492937G>A g.94027381G>A c.[4539+2064C>T; 5461-1389A>G] - ABCA4_000529 - PubMed: Zernant 2014 - - Germline yes - - - - DNA arrayCGH, SEQ-NG-R, SEQ-NG-I, SEQ - - STGD1 - PubMed: Zernant 2014 2-generation family, 2 affected M yes - USA, Spain, Italy or Denmark - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(=) Maternal (confirmed) ACMG VUS g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - COD 77ORG PubMed: de Castro-Miró 2016 - M no Spain - - - - - 1 Marta de Castro-Miró
+/. - c.4539+2064C>T r.(=) p.(=) Both (homozygous) - pathogenic g.94492937G>A g.94027381G>A - - ABCA4_000529 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - STGD - - - M - - - - - - - 2 Marta de Castro-Miró
?/. 30i c.4539+2064C>T r.(?) p.(=) Parent #2 - VUS g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(=) Parent #2 - VUS g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(=) Parent #2 - VUS g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(=) Parent #1 - VUS g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(=) Parent #1 - VUS g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(=) Parent #2 - VUS g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2064C>T r.(?) p.(=) Parent #1 - VUS g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2064C>T r.(=) p.(=) Unknown - pathogenic g.94492937G>A g.94027381G>A ABCA4(NM_000350.3):c.4539+2064C>T - ABCA4_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Maternal (confirmed) - pathogenic (recessive) g.94492937G>A g.94027381G>A p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Nassisi 2019 - - Unknown yes - - - - DNA ? - - retinal disease CIC00251 PubMed: Nassisi 2019 - M no France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A p.[=,Arg1514Leufs*36] - ABCA4_000529 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC06528 PubMed: Nassisi 2019 Consanguineous cousin of CIC07955 M no France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A p.[=,Arg1514Leufs*36] - ABCA4_000529 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC07955 PubMed: Nassisi 2019 Consanguineous cousin of CIC06528 M yes France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67241 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #1 - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67332 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Both (homozygous) - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0173 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #1 - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0863 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Maternal (confirmed) - pathogenic (recessive) g.94492937G>A g.94027381G>A p.[=Arg1514Leufs*36] - ABCA4_000529 - PubMed: Nassisi 2019 - - Unknown yes - - - - DNA ? - - retinal disease CIC01275 PubMed: Nassisi 2019 - M no France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A p.[=,Arg1514Leufs*36] - ABCA4_000529 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC08809 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A [4539+2064C>T] - ABCA4_000529 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P4T1 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A [4539+2064C>T] - ABCA4_000529 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P5T3 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67108 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67126 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67143 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67262 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0423 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0493 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0599 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0933 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0981 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1022 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1054 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=, Arg1514Leufs*36]# - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1064 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1086 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T p.[=,Arg1514Leufs*36] - ABCA4_000529 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1101 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.G6089A (p.R2030Q) - ABCA4_000529 - PubMed: de Castro-Miró 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 77ORG PubMed: de Castro-Miró 2016 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T/p.? - ABCA4_000529 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 272 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A c.4539+2064C>T/p.? - ABCA4_000529 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 85 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. - c.4539+2064C>T r.(=) p.(=) Unknown - likely pathogenic g.94492937G>A - ABCA4(NM_000350.3):c.4539+2064C>T - ABCA4_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 30i c.4539+2064C>T r.(=) p.(=) Unknown - likely pathogenic g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 30i c.4539+2064C>T r.(=) p.(=) Unknown - likely pathogenic g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - Bauwens 2019 - - Unknown - - - - - DNA MIPsm - - retinal disease 70699; MD-1002 PubMed: Khan 2020PubMed: Del Pozo-Valero 2020 - M - Spain - - - - - 1 LOVD
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - Bauwens 2019 - - Unknown - - - - - DNA MIPsm - - retinal disease 70706; MD-0826 PubMed: Khan 2020PubMed: Del Pozo-Valero 2020 - M - Spain - - - - - 1 LOVD
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Both (homozygous) - pathogenic (recessive) g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - Bauwens 2019 - - Unknown - - - - - DNA MIPsm - - retinal disease 68238 PubMed: Khan 2020 - M - Spain - - - - - 1 LOVD
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Both (homozygous) - pathogenic (recessive) g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - Bauwens 2019 - - Unknown - - - - - DNA MIPsm - - retinal disease 68238 PubMed: Khan 2020 - M - Spain - - - - - 1 LOVD
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - Bauwens 2019 - - Unknown - - - - - DNA MIPsm - - retinal disease 70513 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - Bauwens 2019 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70712 PubMed: Khan 2020 - M - Spain - - - - - 1 LOVD
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - pathogenic (recessive) g.94492937G>A - c.4539+2064C>T - ABCA4_000529 - Bauwens 2019 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67195 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. 30i c.4539+2064C>T r.spl p.[=,Arg1514Leufs*36] Parent #1 ACMG pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat5 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 30i c.4539+2064C>T r.spl p.[=,Arg1514Leufs*36] Unknown ACMG pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat225 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Parent #1 - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0177 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0531 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Parent #1 - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0881 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1002 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0020 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Parent #2 - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0086 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Unknown - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0318 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Parent #2 - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0324 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4539+2064C>T r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Parent #2 - pathogenic (recessive) g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0477 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Both (homozygous) ACMG likely pathogenic g.94492937G>A g.94027381G>A - - ABCA4_000529 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072789 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #1 ACMG likely pathogenic g.94492937G>A g.94027381G>A - - ABCA4_000529 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA15-06673 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.4539+2064C>T r.spl p.[=,Arg1514Leufs*36] Parent #1 ACMG likely pathogenic g.94492937G>A g.94027381G>A c.[2588G>C;4539+2064C>T] - ABCA4_000529 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 070997 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. 30i c.4539+2064C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514LeufsTer36] Unknown ACMG pathogenic g.94492937G>A g.94027381G>A - - ABCA4_000529 ACMG PS3_sup, PS4, PM3_V, PP3; severity category mild Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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