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.

189 entries on 2 pages. Showing entries 1 - 100.
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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     
+?/. 36i c.5196+1137G>A r.spl p.? Parent #1 - likely pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Bauwens 2014 - - Germline ? - - - - DNA SEQ-NG-I - - STGD - PubMed: Bauwens 2014 - F no Belgium Belgian - - - - 1 Miriam Bauwens
+/. 36i c.5196+1137G>A r.5196_5197ins5196+1140_5196+1212 p.(=) Maternal (confirmed) - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 not in 600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 3-generation family, 1 affected, unaffected carrier parents/children F no United States - - - - - 1 Johan den Dunnen
+/. 36i c.5196+1137G>A r.5196_5197ins5196+1140_5196+1212 p.(=) Maternal (confirmed) - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 not in 600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. 36i c.5196+1137G>A r.5196_5197ins5196+1140_5196+1212 p.(=) Paternal (inferred) - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 not in 600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 3-generation family, 1 affected, unaffected carrier parents/children F no United States - - - - - 1 Johan den Dunnen
+/. 36i c.5196+1137G>A r.5196_5197ins5196+1140_5196+1212 p.(=) Maternal (confirmed) - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 not in 600 control chromosomes PubMed: Braun 2013, PubMed: Schindler 2010 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013, PubMed: Schindler 2010 2-generation family, 2 affecteds, unaffected carrier parent/sibs - no United States - - - - - 2 Johan den Dunnen
+/. 36i c.5196+1137G>A r.5196_5197ins5196+1140_5196+1212 p.(=) Parent #1 - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 not in 600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 2 affecteds, unaffected carrier parent/sibs - no United States - - - - - 2 Johan den Dunnen
+/. 36i c.5196+1137G>A r.5196_5197ins5196+1140_5196+1212 p.(=) Parent #1 - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 not in 600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
+/. 36i c.5196+1137G>A r.5196_5197ins5196+1140_5196+1212 p.(=) Paternal (confirmed) - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 not in 600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. 36i c.5196+1137G>A r.5196_5197ins5196+1140_5196+1212 p.(=) Maternal (confirmed) - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 not in 600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
+?/. 36i c.5196+1137G>A r.spl? p.(?) Parent #2 - likely pathogenic g.94484001C>T g.94018445C>T 5196+1137G>T - ABCA4_000016 - PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents F no Netherlands - - - - - 1 Nathalie Bax
?/. 36i c.5196+1137G>A r.spl? p.(?) Unknown - VUS g.94484001C>T g.94018445C>T 5196+1137G>T - ABCA4_000016 - PubMed: Bax 2014 - - Unknown - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected heterozygous parents M no Netherlands - - - - - 1 Nathalie Bax
+?/. 36i c.5196+1137G>A r.(?) p.(?) Unknown - likely pathogenic g.94484001C>T g.94018445C>T c.5196+1137 G>A - ABCA4_000016 - PubMed: Zaneveld 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? Canada French Canadian - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1137G>A r.(?) p.(?) Paternal (confirmed) - pathogenic g.94484001C>T g.94018445C>T c.5196+1137G>A - ABCA4_000016 - PubMed: Duncker 2015 - - Germline yes - - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+?/. - c.5196+1137G>A r.spl? p.(?) Unknown - likely pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 - - - rs778234759 Germline - - - - - DNA SEQ-NG - - STGD - Haer-Wigman 2016 - - no - - - - - - 1 Lonneke Haer-Wigman
+?/. - c.5196+1137G>A r.(=) p.(=) Unknown - likely pathogenic g.94484001C>T g.94018445C>T ABCA4(NM_000350.3):c.5196+1137G>A - ABCA4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1137G>A r.(=) p.(=) Parent #2 - VUS g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1137G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamPPatII3 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. - c.5196+1137G>A r.(=) p.(=) Unknown - pathogenic (recessive) g.94484001C>T - 1:94484001C>T ENST00000370225.3:c.5196+1137G>A - ABCA4_000016 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007729 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.5196+1137G>A r.(=) p.(=) Unknown - pathogenic (recessive) g.94484001C>T - 1:94484001C>T ENST00000370225.3:c.5196+1137G>A - ABCA4_000016 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007747 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.5196+1137G>A r.(=) p.(=) Unknown - pathogenic (recessive) g.94484001C>T - 1:94484001C>T ENST00000370225.3:c.5196+1137G>A - ABCA4_000016 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007756 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 36i c.5196+1137G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat89 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+?/. - c.5196+1137G>A r.spl p.? Parent #1 - likely pathogenic g.94484001C>T g.94018445C>T IVS36+1137G>A - ABCA4_000016 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 777 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.5196+1137G>A r.spl p.? Parent #1 - likely pathogenic g.94484001C>T g.94018445C>T IVS36+1137G>A - ABCA4_000016 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 778 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.5196+1137G>A r.spl p.? Parent #1 - likely pathogenic g.94484001C>T g.94018445C>T IVS36+1137G>A - ABCA4_000016 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 779 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.5196+1137G>A r.spl p.? Parent #2 - likely pathogenic g.94484001C>T g.94018445C>T IVS36+1137G>A - ABCA4_000016 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 736 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.5196+1137G>A r.spl? p.? Unknown - pathogenic g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 7762 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #2 - pathogenic (recessive) g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Fadaie 2021 - - Germline no - - - - DNA SEQ-NG - - retinal disease Pat1 PubMed: Fadaie 2021 - - - Ireland - - - - - 1 Zeinab Fadaie
+?/. - c.5196+1137G>A r.spl p.? Parent #1 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T - - ABCA4_000016 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease CACD25 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T p.[=,Met1733Glufs*78] - ABCA4_000016 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC02688 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.(?) - ABCA4_000016 no variant 2nd chromosome PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 50 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #1 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A IVS36+1137 G>A - ABCA4_000016 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 777 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #1 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A IVS36+1137 G>A - ABCA4_000016 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 778 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #1 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A IVS36+1137 G>A - ABCA4_000016 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 779 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #1 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[Met1733Glufs*78,=]e - ABCA4_000016 - PubMed: Sangermano 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P-II:3 PubMed: Sangermano 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G.A - ABCA4_000016 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P9 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.(?) - ABCA4_000016 no variant 2nd chromosome PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 14 PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A - ABCA4_000016 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P36 PubMed: Valkenburg 2019 Sibling of P37 M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A - ABCA4_000016 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P37 PubMed: Valkenburg 2019 Sibling of P36 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 21567 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4646 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4988 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 20160 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 20122 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 25804 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 21670 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 20567 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 19004 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 20522 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4198 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4617 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 16063 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 20898 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 20546 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 17478 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 20655 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 21317 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 no variant 2nd chromosome PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 21659 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 21 PubMed: Khan 2020 - F ? Australia - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA PCRh, SEQ - Haloplex retinal disease 22a PubMed: Khan 2020 sibling of 22b F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,M1733Efs*78] - ABCA4_000016 - PubMed: Khan 2020 - - Unknown yes - - - - DNA PCRh, SEQ - Haloplex retinal disease 22b PubMed: Khan 2020 sibling of 22a M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[Met1733Glufs*78,=] - ABCA4_000016 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0460 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[Met1733Glufs*78,=] - ABCA4_000016 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0939 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A$ p.? - ABCA4_000016 - PubMed: Weisschuh 2016 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease CACD25 PubMed: Weisschuh 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T ENST00000370225.3:c.5196+1137G>A NA 0/1 - ABCA4_000016 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007729 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T ENST00000370225.3:c.5196+1137G>A NA 0/1 - ABCA4_000016 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007747 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T ENST00000370225.3:c.5196+1137G>A NA 0/1 - ABCA4_000016 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007756 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A - ABCA4_000016 - PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 9 PubMed: Alabduljalil 2019 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A, Intronic Heterozygous - ABCA4_000016 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 2630-3286 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A, Intronic Heterozygous - ABCA4_000016 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 343-1723 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A, Intronic Heterozygous - ABCA4_000016 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 4225-5156 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A, Intronic Heterozygous - ABCA4_000016 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 761-1312 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #2 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T p.(?) - ABCA4_000016 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 89 PubMed: Birtel 2018 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T p.[=,Met1733Glufs*78] - ABCA4_000016 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC04422 PubMed: Nassisi 2019 - M no France - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T p.[=,Met1733Glufs*78] - ABCA4_000016 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC04795 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T p.[=,Met1733Glufs*78] - ABCA4_000016 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC06981 PubMed: Nassisi 2019 - M no France - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Maternal (confirmed) - likely pathogenic (recessive) g.94484001C>T g.94018445C>T p.[=,Met1733Glufs*78] - ABCA4_000016 - PubMed: Nassisi 2019 - - Unknown yes - - - - DNA ? - - retinal disease CIC07459 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T p.[=,Met1733Glufs*78] - ABCA4_000016 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC10544 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #2 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A (p.?) - ABCA4_000016 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3430 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #2 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A (p.?) - ABCA4_000016 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3827 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A (p.?) - ABCA4_000016 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3151 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #2 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A (p.?) - ABCA4_000016 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3788 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #2 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A IVS36+1137 G>A - ABCA4_000016 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 736 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A, deepintron - ABCA4_000016 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14095 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A, deepintron - ABCA4_000016 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17008 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.(?) - ABCA4_000016 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 17 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Unknown - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,Met1733Glufs*78] - ABCA4_000016 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67113 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #2 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,Met1733Glufs*78] - ABCA4_000016 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67118 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1137G>A r.[=,5196_5197ins5196+1140_5196+1212] p.[=,Met1733Glufs*78] Parent #2 - likely pathogenic (recessive) g.94484001C>T g.94018445C>T c.5196+1137G>A p.[=,Met1733Glufs*78] - ABCA4_000016 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67124 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
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