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.

63 entries on 1 page. Showing entries 1 - 63.
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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     

VIP     

Data_av     

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Owner     
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely pathogenic g.94496039C>T g.94030483C>T - - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Booij 2011 - - Germline - ExAC 173, 121380, 1, 0.001425 - - - DNA arraySEQ, PCR, SEQ - - STGD1 - PubMed: Booij 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 29 c.4297G>A r.(?) p.(Val1433Ile) Parent #1 - pathogenic g.94496039C>T g.94030483C>T 1853G>A; 4297G>A - ABCA4_000552 - PubMed: Klevering 2004 - - Germline yes - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T 4297G>A - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Valverde 2007, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 173, 121380, 1, 0.001425 - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007, PubMed: Riveiro-Alvarez 2013 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T Val1433Ile - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Michaelides 2007 - - Germline - 173, 121380, 1, 0.001425 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Michaelides 2007 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Both (homozygous) - likely benign g.94496039C>T g.94030483C>T V1433I - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Passerini 2010 - - Germline ? 173, 121380, 1, 0.001425 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A - ABCA4_000552 - PubMed: Ernest 2009 - - Germline - 173, 121380, 1, 0.001425 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients. ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely pathogenic g.94496039C>T g.94030483C>T Val1433lle - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Chen 2011 - - Germline ? 173, 121380, 1, 0.001425 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Riveiro-Alvarez 2013 - - Germline - 173, 121380, 1, 0.001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely pathogenic g.94496039C>T g.94030483C>T c.4297G>A - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Riveiro-Alvarez 2013 - - Germline - 173, 121380, 1, 0.001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Riveiro-Alvarez 2013 - - Germline - 173, 121380, 1, 0.001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A - ABCA4_000552 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Riveiro-Alvarez 2013 - - Germline - 173, 121380, 1, 0.001425 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely pathogenic g.94496039C>T g.94030483C>T V1433I - ABCA4_000552 - PubMed: Cideciyan 2009 - - Germline - 173, 121380, 1, 0.001425 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(4297g>a) p.(Val1433Ile) Parent #1 ACMG VUS g.94496039C>T g.94030483C>T - - ABCA4_000552 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T ABCA4(NM_000350.2):c.4297G>A (p.V1433I), ABCA4(NM_000350.3):c.4297G>A (p.V1433I, p.(Val1433Ile)) - ABCA4_000552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely benign g.94496039C>T g.94030483C>T ABCA4(NM_000350.2):c.4297G>A (p.V1433I), ABCA4(NM_000350.3):c.4297G>A (p.V1433I, p.(Val1433Ile)) - ABCA4_000552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Parent #1 - VUS g.94496039C>T g.94030483C>T - - ABCA4_000552 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Parent #1 - likely benign g.94496039C>T g.94030483C>T - - ABCA4_000552 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown - pathogenic g.94496039C>T g.94030483C>T - - ABCA4_000552 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs56357060 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
?/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T - - ABCA4_000552 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 71216 PubMed: Taylor 2017 family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - pathogenic (recessive) g.94496039C>T g.94030483C>T - - ABCA4_000552 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat22 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown ACMG VUS g.94496039C>T - - - ABCA4_000552 - Mena et al., 2020 submitted - rs56357060 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F no Argentina - - - - - 1 Marcela Mena
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T V1433I (4297G>A) - ABCA4_000552 no variant 2nd chromosome PubMed: Stenirri 2007 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease RP4 PubMed: Stenirri 2007 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T Val1433Ile - ABCA4_000552 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 198 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A (29) p.Val1433Ile - ABCA4_000552 no variant 2nd chromosome; no segregation analysis done PubMed: Aguirre-Lamban 2009 - - Unknown - - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease ARDM-99 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A (29) p.Val1433Ile - ABCA4_000552 no variant 2nd chromosome; no segregation analysis done PubMed: Aguirre-Lamban 2009 - - Unknown - - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease RP-1058 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A (p.Val1433Ile) - ABCA4_000552 no variant 2nd chromosome PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2797 PubMed: Kellner 2009 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Both (homozygous) - VUS g.94496039C>T g.94030483C>T c.4297G>A (p.Val1433Ile); - ABCA4_000552 - PubMed: Verdina 2012 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease GD PubMed: Verdina 2012 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.(V1433I) - ABCA4_000552 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 470 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T ABCA4 c.4297G>A, p.(Val1433Ile) - ABCA4_000552 no variant 2nd chromosome PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 71216 PubMed: Taylor 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Both (homozygous) - VUS g.94496039C>T g.94030483C>T c.4297G>A (p.Val1433Ile) - ABCA4_000552 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 15 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.Val1433Ile - ABCA4_000552 no variant 2nd chromosome PubMed: Song 2011 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - Retina-Array retinal disease 10 PubMed: Song 2011 Furthermore, c.1557C>A p.Tyr519Ter was found in PROM1 M ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.(Val1433Ile) - ABCA4_000552 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1194 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.(Val1433Ile) - ABCA4_000552 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1311 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.(Val1433Ile) - ABCA4_000552 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1314 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.(Val1433Ile) - ABCA4_000552 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1317 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Both (homozygous) - VUS g.94496039C>T g.94030483C>T c.4297G>A p.(Val1433Ile) - ABCA4_000552 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 5 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.Val1433Ile Het - ABCA4_000552 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-202-023 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.Val1433Ile Het - ABCA4_000552 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-221-123 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.Val1433Ile Het - ABCA4_000552 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-221-121 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A, p.Val1433Ile Heterozygous - ABCA4_000552 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 173, 121380, 1, 0.001425 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3350-4098 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A, p.Val1433Ile heterozygous - ABCA4_000552 - PubMed: Goetz 2020 - - Unknown - 173, 121380, 1, 0.001425 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 432-931 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T p.Val1433Ile - ABCA4_000552 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 22 PubMed: Birtel 2018 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T (p.Val1433Ile) - ABCA4_000552 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 10 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A (p.Val1433Ile) - ABCA4_000552 - PubMed: Verdina 2012 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease MS PubMed: Verdina 2012 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Parent #2 - VUS g.94496039C>T g.94030483C>T c.4297G>A p.(Val1433Ile) - ABCA4_000552 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 14 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Parent #1 - VUS g.94496039C>T g.94030483C>T c.1853G>A;4297G>A p.(Gly618Glu;Val1433Ile) - ABCA4_000552 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 18 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Parent #1 - VUS g.94496039C>T g.94030483C>T c.3323G>A [(p.Arg1108His);c.4297G>A (p.Val1433Ile)] - ABCA4_000552 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 21 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Parent #1 - VUS g.94496039C>T g.94030483C>T c.[442+1G>A;4297G>A] p.[(?;Val1433Ile)] - ABCA4_000552 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67279 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.(Val1433Ile) - ABCA4_000552 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 15 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A p.Val1433Ile het - ABCA4_000552 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-306-045 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A, p.Val1433Ile Heterozygous - ABCA4_000552 - PubMed: Goetz 2020 - - Unknown - 173, 121380, 1, 0.001425 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4060-4938 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely pathogenic g.94496039C>T - c.4297G>A - ABCA4_000552 - PubMed: Song-2011 - rs56357060 Unknown - - - - - DNA arraySEQ, PCR blood - retinal disease - PubMed: Song-2011 - M - - - - - - - 1 LOVD
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely pathogenic g.94496039C>T g.94030483C>T FAM161A Ex.3 c.1309A>T p.(Arg437*), Ex.3 c.1309A>T p.(Arg437*), ABCA4: p.(Val1433Ile) Ex.29 c.4297G>A - ABCA4_000552 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1058 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T g.94030483C>T c.4297G>A, p.Val1433Ile - ABCA4_000552 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2929_004514 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely pathogenic (recessive) g.94496039C>T - c.4297G>A - ABCA4_000552 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown ACMG likely pathogenic g.94496039C>T g.94030483C>T ABCA4 c.4297G>A, p.(Val1433Ile) - ABCA4_000552 heterozygous PubMed: Buhler 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood Trusight One retinal disease 10/I.2 PubMed: Buhler 2021 Family 10, individual I.2 ? - Switzerland - - - - - 1 LOVD
?/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T - ABCA4(NM_000350.2):c.4297G>A (p.V1433I), ABCA4(NM_000350.3):c.4297G>A (p.V1433I, p.(Val1433Ile)) - ABCA4_000552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Unknown - VUS g.94496039C>T - c.4297G>A - ABCA4_000552 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67237 PubMed: Khan 2019PubMed: Khan 2020 - M - France - - - - - 1 LOVD
?/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown - association g.94496039C>T g.94030483C>T ABCA4 c.4297G>A, p.V1433I - ABCA4_000552 risk factor PubMed: Peng 2016 - - Unknown ? 1/103 cases - - - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - - - - 1 LOVD
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Maternal (confirmed) ACMG VUS g.94496039C>T - c.[3323G>A; 4297G>A], p.[(Arg1108His;Val1433Ile)] - ABCA4_000552 Complex allele Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#27 Bianco 2023, submitted - F no Italy - - - - - 2 Lorenzo Bianco
+?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Maternal (confirmed) ACMG VUS g.94496039C>T - c.[3323G>A; 4297G>A], p.[(Arg1108His;Val1433Ile)] - ABCA4_000552 Complex allele Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#61 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
?/. 29 c.4297G>A r.(?) p.(Val1433Ile) Parent #1 ACMG VUS g.94496039C>T g.94030483C>T c.[1853G>A;4297G>A] - ABCA4_000552 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat4 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
-?/. - c.4297G>A r.(?) p.(Val1433Ile) Unknown - likely benign g.94496039C>T - ABCA4(NM_000350.2):c.4297G>A (p.V1433I), ABCA4(NM_000350.3):c.4297G>A (p.V1433I, p.(Val1433Ile)) - ABCA4_000552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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