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.

129 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T G6449A - ABCA4_000817 - PubMed: Papaioannou 2000 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T G6449A - ABCA4_000817 - PubMed: Papaioannou 2000 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Both (homozygous) - likely pathogenic g.94466422C>T g.94000866C>T TGT > TGC - ABCA4_000817 - PubMed: Briggs 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 3-generation family, 4 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Both (homozygous) - likely pathogenic g.94466422C>T g.94000866C>T TGT > TGC - ABCA4_000817 - PubMed: Briggs 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Nephew of 032-045; 3-generation family, 4 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T Cys2150Tyr - ABCA4_000817 - PubMed: Fishman 1999 - - Germline ? ExAC 3, 121398, 0, 0.00002471 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T 6449G>A - ABCA4_000817 - PubMed: Webster 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T 6449G>A - ABCA4_000817 - PubMed: Webster 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T 6449G>A - ABCA4_000817 - PubMed: Webster 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T 6449G>A - ABCA4_000817 - PubMed: Webster 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T 6449G>A - ABCA4_000817 - PubMed: Webster 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T C2150Y - ABCA4_000817 - PubMed: Fumagalli 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T G6449A - ABCA4_000817 - PubMed: Birch 2001 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T C2150Y - ABCA4_000817 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 121398, 0, 0.00002471 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T c.6449G>A - ABCA4_000817 - PubMed: Rosenberg 2007 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - pathogenic g.94466422C>T g.94000866C>T Cys2150Tyr TGT>TAT - ABCA4_000817 - PubMed: Schindler 2010 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T Cys2150Tyr TGT>TAT - ABCA4_000817 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T Cys2150Tyr TGT>TAT - ABCA4_000817 - PubMed: Schindler 2010 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T c.6449G>A - ABCA4_000817 - PubMed: Duno 2012 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr - ABCA4_000817 - PubMed: Roberts 2012 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T Cys2150Tyr - ABCA4_000817 - PubMed: Oldani 2012 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T 6449G>A - ABCA4_000817 - PubMed: Downes 2012 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T p.Cys2150Tyr - ABCA4_000817 - PubMed: Fujinami 2013 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T p.Cys2150Tyr - ABCA4_000817 - PubMed: Fujinami 2013 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T p.Cys2150Tyr - ABCA4_000817 - PubMed: Fujinami 2013 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T p.Cys2150Tyr - ABCA4_000817 - PubMed: Fujinami 2013 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T p.Cys2150Tyr - ABCA4_000817 - PubMed: Fujinami 2013 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA PCR, SEQ - - ? - PubMed: Fujinami 2013, PubMed: Michaelides 2007 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T c.6449G>A - ABCA4_000817 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T c.6449G>A - ABCA4_000817 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T c.6449G>A - ABCA4_000817 - PubMed: Riveiro-Alvarez 2013 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T c.6449G>A - ABCA4_000817 - PubMed: Riveiro-Alvarez 2013 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr - ABCA4_000817 - PubMed: Fujinami 2013 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - VUS g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr - ABCA4_000817 - PubMed: Fujinami 2013 - - Germline - 3, 121398, 0, 0.00002471 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T p.C2150Y - ABCA4_000817 - PubMed: Burke 2014, PubMed: Duncker 2015 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014, PubMed: Duncker 2015 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T p.C2150Y - ABCA4_000817 - PubMed: Burke 2014 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - M ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T c.[6449G>A] - ABCA4_000817 - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - - Germline yes 3, 121398, 0, 0.00002471 - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T p.[(G1961E(;)C2150Y)] - ABCA4_000817 - PubMed: Nõupuu 2014 - - Germline ? 3, 121398, 0, 0.00002471 - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - pathogenic g.94466422C>T g.94000866C>T C2150Y - ABCA4_000817 - PubMed: Cideciyan 2009 - - Germline yes 3, 121398, 0, 0.00002471 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6449G>A r.(6449g>a) p.(Cys2150Tyr) Parent #1 ACMG pathogenic (recessive) g.94466422C>T g.94000866C>T - - ABCA4_000817 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #1 - likely pathogenic g.94466422C>T g.94000866C>T - - ABCA4_000817 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #1 - likely pathogenic g.94466422C>T g.94000866C>T - - ABCA4_000817 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - pathogenic (recessive) g.94466422C>T g.94000866C>T - - ABCA4_000817 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS11PatII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+?/. - c.6449G>A r.(?) p.(Cys2150Tyr) Parent #1 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T - - ABCA4_000817 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - pathogenic (recessive) g.94466422C>T - 1:94466422C>T ENST00000370225.3:c.6449G>A (Cys2150Tyr) - ABCA4_000817 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007717 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - pathogenic (recessive) g.94466422C>T - 1:94466422C>T ENST00000370225.3:c.6449G>A (Cys2150Tyr) - ABCA4_000817 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009851 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic g.94466422C>T g.94000866C>T - - ABCA4_000817 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 707 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic g.94466422C>T g.94000866C>T - - ABCA4_000817 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 725 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic g.94466422C>T g.94000866C>T - - ABCA4_000817 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 766 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown ACMG likely pathogenic g.94466422C>T - - - ABCA4_000817 - Mena et al., 2020 submitted - rs61751384 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M - Argentina - - - - - 1 Marcela Mena
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown ACMG likely pathogenic g.94466422C>T - - - ABCA4_000817 - Mena et al., 2020 submitted - rs61751384 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. - c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T - - ABCA4_000817 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 11011507 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T Cys2150Tyr - ABCA4_000817 no variant 2nd chromosome PubMed: Oh 2004 - - Unknown - - - - - DNA SEQ - - retinal disease Patient 4 PubMed: Oh 2004 - F no United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T Cys2150Tyr - ABCA4_000817 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 139 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #1 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A - ABCA4_000817 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 2 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.(C2150Y) - ABCA4_000817 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 560 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449 G>A - ABCA4_000817 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 768 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T ABCA4 c.6449G>A p.(Cys2150Tyr) het - ABCA4_000817 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 11011507 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T ENST00000370225.3:c.6449G>A p.Cys2150Tyr 0/1 - ABCA4_000817 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007717 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T ENST00000370225.3:c.6449G>A p.Cys2150Tyr 0/1 - ABCA4_000817 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G009851 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A/p.C2150Y - ABCA4_000817 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 587 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A - ABCA4_000817 - PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 5 PubMed: Alabduljalil 2019 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.Cys2150Tyr het - ABCA4_000817 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-081-035 Prevention Genetics - - ? - Metis, English, French - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Both (homozygous) - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr Homozygous - ABCA4_000817 - PubMed: Goetz 2020 - - Unknown - 3, 121398, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1293-1833 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr Heterozygous - ABCA4_000817 - PubMed: Goetz 2020 - - Unknown - 3, 121398, 0, 0.00002471 - - - DNA SEQ - - retinal disease 1754-2322 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr Heterozygous - ABCA4_000817 - PubMed: Goetz 2020 - - Unknown - 3, 121398, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2471-3110 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr Heterozygous - ABCA4_000817 - PubMed: Goetz 2020 - - Unknown - 3, 121398, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3352-4101 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr Heterozygous - ABCA4_000817 - PubMed: Goetz 2020 - - Unknown - 3, 121398, 0, 0.00002471 - - - DNA SEQ - - retinal disease 4013-4917 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr Heterozygous - ABCA4_000817 - PubMed: Goetz 2020 - - Unknown - 3, 121398, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4103-4993 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr Heterozygous - ABCA4_000817 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121398, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5025-6975 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #1 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T (p.Cys2150Tyr) - ABCA4_000817 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 3 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A (p.Cys2150Tyr) - ABCA4_000817 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2669 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T C2150Y - ABCA4_000817 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 19 PubMed: Burke 2011 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.C2150Y - ABCA4_000817 - PubMed: Thiadens 2012 - - Unknown - - - - - DNA DGGE, PE, SEQ - APEX retinal disease Unknown 298 PubMed: Thiadens 2012 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T Cys2150Tyr - ABCA4_000817 - PubMed: Sisk 2014 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 3 PubMed: Sisk 2014 sibling of patient 4 F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T Cys2150Tyr - ABCA4_000817 - PubMed: Sisk 2014 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 4 PubMed: Sisk 2014 sibling of patient 3 F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T p.C2150Y - ABCA4_000817 - PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P21 PubMed: Lee 2014 possibly reported before by Zernant and/or Burke - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T p.[Gly550Arg];[Cys2150Tyr] - ABCA4_000817 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 26 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T p.C2150Y - ABCA4_000817 - PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 19 PubMed: Duncker 2014 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.Cys2150Tyr - ABCA4_000817 no segregation analysis done PubMed: Cideciyan 2015 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 89 PubMed: Cideciyan 2015 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A (p.Cys2150Tyr) - ABCA4_000817 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3416 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A (p.Cys2150Tyr) - ABCA4_000817 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3498 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A (p.Cys2150Tyr) - ABCA4_000817 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3561 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A Cys2150Tyr TGT>TAT - ABCA4_000817 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 707 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A Cys2150Tyr TGT>TAT - ABCA4_000817 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 725 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A Cys2150Tyr TGT>TAT - ABCA4_000817 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 766 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A,p.Cys2150Tyr - ABCA4_000817 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11028 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G.A p.Cys2150Tyr - ABCA4_000817 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P23 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.Cys2150Tyr - ABCA4_000817 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1129 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T het c.6449G>A p.Cys2150Tyr - ABCA4_000817 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 43 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.[2588G>C;5603A>T];[6449G>A] - ABCA4_000817 - PubMed: Green 2020 - - Germline yes - - - - DNA SEQ - exons and flanking intronic regions retinal disease S11:II-1 PubMed: Green 2020 - - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Parent #2 - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.(Cys2150Tyr) - ABCA4_000817 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0683 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.(Cys2150Tyr) - ABCA4_000817 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1220 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6649G>A/p.C2150Y - ABCA4_000817 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 261 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.Cys2150Tyr het - ABCA4_000817 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2012-076-024 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A p.Cys2150Tyr Het - ABCA4_000817 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-259-025 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T g.94000866C>T c.6449G>A, p.Cys2150Tyr Heterozygous - ABCA4_000817 - PubMed: Goetz 2020 - - Unknown - 3, 121398, 0, 0.00002471 - - - DNA SEQ - - retinal disease 1616-2179 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - pathogenic g.94466422C>T - c.6449G>A - ABCA4_000817 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+/. - c.6449G>A r.(?) p.(Cys2150Tyr) Both (homozygous) ACMG pathogenic g.94466422C>T g.94000866C>T ABCA4 c.6449G>A, p.(Cys2150Tyr) - ABCA4_000817 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.019 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T ABCA4 c.6449G>A, p.Cys2150Tyr - ABCA4_000817 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007717 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic g.94466422C>T g.94000866C>T ABCA4 c.6449G>A, p.Cys2150Tyr - ABCA4_000817 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009851 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 47 c.6449G>A r.(?) p.(Cys2150Tyr) Unknown - likely pathogenic (recessive) g.94466422C>T - c.6449G>A - ABCA4_000817 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67130 PubMed: Khan 2019PubMed: Khan 2020 - M - France - - - - - 1 LOVD
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