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.

97 entries on 1 page. Showing entries 1 - 97.
Legend   How to query  

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+2001G>A r.spl? p.(?) Parent #1 - likely pathogenic g.94493000C>T g.94027444C>T V4 - ABCA4_000015 deep intronic splice variant, first identified by Braun (2013) PubMed: Bauwens 2014 - - Germline yes - - - - DNA SEQ-NG-I - - STGD - PubMed: Bauwens 2014 family, 1 patient M no Belgium Belgian - - - - 23 Miriam Bauwens
+?/. 30i c.4539+2001G>A r.spl? p.(?) Parent #1 - likely pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 deep intronic splice variant, first identified by Braun (2013) PubMed: Bauwens 2014 - - Germline yes - - - - DNA SEQ-NG-I - - STGD - PubMed: Bauwens 2014 2-generation family, 2 cases, F1II4 F no Belgium Belgian - - - - 2 Miriam Bauwens
+?/. 30i c.4539+2001G>A r.spl p.? Parent #1 - likely pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 not in 600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 2 affecteds, unaffected carrier sib - no United States - - - - - 2 Johan den Dunnen
+?/. 30i c.4539+2001G>A r.spl? p.(?) Unknown - likely pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Bax 2014 - - Unknown - - - - - DNA SEQ - - CORD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents M - Netherlands - - - - - 1 Nathalie Bax
?/. 30i c.4539+2001G>A r.spl? p.(?) Unknown - VUS g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Bax 2014 - - Unknown ? - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents F no Netherlands - - - - - 1 Nathalie Bax
?/. 30i c.4539+2001G>A r.spl p.? Maternal (confirmed) - VUS g.94493000C>T g.94027444C>T V4 - ABCA4_000015 - PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 2 affecteds (F, M), unaffected carrier parents, patient GII2 F no Netherlands - - - - - 3 Nathalie Bax
?/. 30i c.4539+2001G>A r.spl? p.(?) Maternal (confirmed) - VUS g.94493000C>T g.94027444C>T V4 - ABCA4_000015 - PubMed: Bax 2014 - - Germline yes - - - - DNA SEQ - - COD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected heterozygous parents F - Netherlands - - - - - 1 Nathalie Bax
+?/. 30i c.4539+2001G>A r.spl? p.(?) Parent #1 - likely pathogenic g.94493000C>T g.94027444C>T V4 - ABCA4_000015 - PubMed: Bax 2014 - - Germline yes - - - - DNA SEQ-NG-I - - STGD - PubMed: Bax 2015 2-generation family, 2 affected (F, M), unaffected parents, patient CII1 M no Netherlands - - - - - 2 Nathalie Bax
?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - VUS g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bax 2015 - - Germline ? - - - - DNA MLPA - - STGD1 - PubMed: Bax 2015 patient CII2 F ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.4539_4540ins[4539+1891_4539+2000;a;4539+2002_4540-2162] p.(=) Paternal (confirmed) - likely pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 0.25 aberrant ABCA4 transcripts PubMed: Bax 2015, PubMed: Albert 2018 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - ? - PubMed: Bax 2015 patient GII1 M ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 4-generation family, 2 affected M ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - ? - PubMed: Bauwens 2014 2-generation family, 2 affected M ? Belgium ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - VUS g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - ? - PubMed: Bauwens 2014 2-generation family, 2 affected M ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - F ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.(?) p.(?) Paternal (confirmed) - likely pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 4-generation family, 2 affected F ? Belgium - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2001G>A r.(?) p.(?) Paternal (confirmed) - VUS g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 4-generation family, 2 affected F ? Belgium ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - VUS g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - ? - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - VUS g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - ? - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - likely pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - likely pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - likely pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - F ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - likely pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - likely pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline yes - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 4-generation family, 2 affected F ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - F ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - F ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - VUS g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - F ? Belgium ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2001G>A r.(?) p.(?) Unknown - VUS g.94493000C>T g.94027444C>T c.4539+2001G>A - ABCA4_000015 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - F ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.spl p.? Unknown - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - - - - Germline - - - - - DNA SEQ-NG - - STGD - Haer-Wigman 2016 - ? no - - - - - - 1 Lonneke Haer-Wigman
+/. 30i c.4539+2001G>A r.spl? p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - - - - Germline - - - - - DNA SEQ-NG - - STGD - Haer-Wigman 2016 - ? no - - - - - - 1 Lonneke Haer-Wigman
+/+ 30i c.4539+2001G>A r.spl? p.(?) Unknown - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - - - - Germline - - - - - DNA SEQ-NG - - STGD - - - ? no - - - - - - 1 Lonneke Haer-Wigman
+?/. - c.4539+2001G>A r.(=) p.(=) Unknown - likely pathogenic g.94493000C>T g.94027444C>T ABCA4(NM_000350.2):c.4539+2001G>A, ABCA4(NM_000350.3):c.4539+2001G>A - ABCA4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+2001G>A r.(=) p.(=) Unknown - pathogenic g.94493000C>T g.94027444C>T ABCA4(NM_000350.2):c.4539+2001G>A, ABCA4(NM_000350.3):c.4539+2001G>A - ABCA4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+2001G>A r.(=) p.(=) Unknown - pathogenic g.94493000C>T g.94027444C>T ABCA4(NM_000350.2):c.4539+2001G>A, ABCA4(NM_000350.3):c.4539+2001G>A - ABCA4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 30i c.4539+2001G>A r.spl? p.(?) Parent #2 - VUS g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2001G>A r.spl? p.(?) Parent #1 - VUS g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2001G>A r.spl? p.(?) Parent #2 - VUS g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2001G>A r.spl p.(Arg1514Leufs*36) Parent #1 - pathogenic (recessive) g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamMPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+?/. - c.4539+2001G>A r.spl p.? Parent #2 - likely pathogenic g.94493000C>T g.94027444C>T IVS30+2001G>A - ABCA4_000015 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 694 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4539+2001G>A r.spl p.? Parent #2 - likely pathogenic g.94493000C>T g.94027444C>T IVS30+2001G>A - ABCA4_000015 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 795 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. - c.4539+2001G>A r.spl? p.? Unknown - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 4459 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.4539+2001G>A r.spl? p.? Unknown - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 4182 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. - c.4539+2001G>A r.spl? p.? Unknown - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 889 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #1 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A p.[=,Arg1514Leufs*36]d - ABCA4_000015 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease M-II:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.[4539+2001G>A] - ABCA4_000015 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P4G8 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #1 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.[4539+2001G>A] - ABCA4_000015 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P9G8 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A Intronic het - ABCA4_000015 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-192-316 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A (p.?) - ABCA4_000015 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3525 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A (p.?) - ABCA4_000015 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3134 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A IVS30+2001 G>A - ABCA4_000015 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 694 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A IVS30+2001 G>A - ABCA4_000015 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 795 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A p.(?) - ABCA4_000015 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Lee 2018 - F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T [4539+2001G>A] - ABCA4_000015 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P12G15 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T [4539+2001G>A] - ABCA4_000015 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P12G16 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T [4539+2001G>A] - ABCA4_000015 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P12G2 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T [4539+2001G>A] - ABCA4_000015 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P1G15 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T [4539+2001G>A] - ABCA4_000015 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P10G1 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A p.[=,Arg1514Leufs*36] - ABCA4_000015 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67198 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #2 - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A p.[=,Arg1514Leufs*36] - ABCA4_000015 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67238 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A r.(spl?)b - ABCA4_000015 - PubMed: Haer-Wigman 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease 889 PubMed: Haer-Wigman 2017 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A r.(spl?)b - ABCA4_000015 - PubMed: Haer-Wigman 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease 4182 PubMed: Haer-Wigman 2017 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A r.(spl?)b - ABCA4_000015 - PubMed: Haer-Wigman 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease 4459 PubMed: Haer-Wigman 2017 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T g.94027444C>T c.4539+2001G>A, Splicing Heterozygous - ABCA4_000015 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 761-1312 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70548 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70562 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70571 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70576 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70592 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70593 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70602 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70607 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70608 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70610 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70614 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70623 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70630 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70636 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70639 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70641 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70643 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70645 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70650 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.1359T>G(;)4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70661 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70666 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70673 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70675 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70690 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA03-04172 PubMed: Khan 2020 - M - Netherlands - - - - - 1 LOVD
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94493000C>T - c.4539+2001G>A - ABCA4_000015 - Albert 2018 (V4 in Braun et al. HMG, 2013) - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67219 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. 30i c.4539+2001G>A r.spl p.[=,Arg1514Leufs*36] Parent #2 ACMG pathogenic (recessive) g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat83 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.4539+2001G>A r.(=,4539_4540ins4539+1891_4540-2162) p.(=,Arg1514Leufs*36) Parent #1 - pathogenic (recessive) g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0321 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514Leufs*36] Parent #1 ACMG likely pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA15-19511 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 30i c.4539+2001G>A r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514LeufsTer36] Unknown ACMG pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 ACMG PS4, PM3_V, BP4_m; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+2001G>A r.spl p.[(=,Arg1514LeufsTer36)] Parent #2 - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Midgley 2024 - rs1457937638 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat15 PubMed: Midgley 2024 - F - South Africa white - - - - 1 Johan den Dunnen
+/. - c.4539+2001G>A r.spl p.[(=,Arg1514LeufsTer36)] Parent #2 - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - PubMed: Midgley 2024 - rs1457937638 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat75 PubMed: Midgley 2024 - M - South Africa white - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.