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.

113 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     
+/. 38 c.5318C>T r.(?) p.(Ala1773Val) Maternal (inferred) - pathogenic g.94480241G>A g.94014685G>A c.4837G>A, c.5318C>T - ABCA4_000446 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? ? France ? - - - - 1 Stéphanie Cornelis
?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - VUS g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Stenirri 2008 - - Germline - 14, 121408, 0, 0.0001153 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - VUS g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Stenirri 2008 - - Germline - 14, 121408, 0, 0.0001153 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - VUS g.94480241G>A g.94014685G>A A1773V - ABCA4_000446 found no variant 2nd chromosome PubMed: Burke 2010 - - Germline - 14, 121408, 0, 0.0001153 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Chacón-Camacho 2013 - - Germline ? 14, 121408, 0, 0.0001153 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Chacón-Camacho 2013 - - Germline ? 14, 121408, 0, 0.0001153 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Chacón-Camacho 2013 - - Germline ? 14, 121408, 0, 0.0001153 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Chacón-Camacho 2013 - - Germline ? 14, 121408, 0, 0.0001153 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - VUS g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Chacón-Camacho 2013 - - Germline - 14, 121408, 0, 0.0001153 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - pathogenic g.94480241G>A g.94014685G>A p.A1773V - ABCA4_000446 - PubMed: Burke 2014 - - Germline - 14, 121408, 0, 0.0001153 - - - 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
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic g.94480241G>A g.94014685G>A c.[5318C>T(;)5882G>A] - ABCA4_000446 - PubMed: Nõupuu 2014 - - Germline - 14, 121408, 0, 0.0001153 - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic g.94480241G>A g.94014685G>A p.[(A1773V)] - ABCA4_000446 - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - - Germline - 14, 121408, 0, 0.0001153 - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 38 c.5318C>T r.(5318c>u) p.(Ala1773Val) Parent #1 ACMG pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA arrayCGH, SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian - - - - 29 Jana Zernant
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic g.94480241G>A g.94014685G>A - - ABCA4_000446 - Sharon, submitted - - Germline - - - - - DNA SEQ - - maculopathy - Sharon, submitted - M no Israel Turkey;Jewish - - - - 3 Dror Sharon
+/. - c.5318C>T r.(?) p.(Ala1773Val) Unknown ACMG pathogenic g.94480241G>A - - - ABCA4_000446 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5318C>T r.(?) p.(Ala1773Val) Unknown ACMG pathogenic g.94480241G>A - - - ABCA4_000446 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) ACMG pathogenic (recessive) g.94480241G>A - - - ABCA4_000446 - Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel CORD 4893 Zixi Sun 2020,submitted - M - China - - - - - 1 Zixi Sun
+/. 38 c.5318C>T r.(?) p.(Ala1773Val) Maternal (inferred) ACMG pathogenic (recessive) g.94480241G>A - - - ABCA4_000446 - - - - Unknown - - - - - DNA SEQ-NG - gene panel STGD1 B11 - - F no China - >22y - yes none 1 Qing Zhu
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - pathogenic g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3529 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - likely pathogenic g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP-134 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
+?/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - likely pathogenic g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP048 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - pathogenic g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Biswas 2017 - rs760549861 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.H.0909 PubMed: Biswas 2017 - - - United States white - - - - 1 LOVD
-?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - likely benign g.94480241G>A - 5318C>T (A1773V) - ABCA4_000446 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.A1773V - ABCA4_000446 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10046 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.A1773V - ABCA4_000446 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10065 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.A1773V, - ABCA4_000446 - PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P15 PubMed: Duncker 2013 - M no United States white - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Paternal (confirmed) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Zhang 2014 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease AIII:1 PubMed: Zhang 2014 Sibling of AIII:2 M ? China adopted - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Paternal (confirmed) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Zhang 2014 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease AIII:2 PubMed: Zhang 2014 Sibling of AIII:1 M ? China adopted - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.A1773V - ABCA4_000446 - PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P25 PubMed: Lee 2014 possibly reported before by Zernant and/or Burke - ? United States Middle East - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.(A1773V) - ABCA4_000446 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 514 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T; p.Ala1773Val - ABCA4_000446 - PubMed: Biswas 2017 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease Pedigree 3 III-I PubMed: Biswas 2017 Sibling of Ped. 3 III:II and III:III F no - white - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T; p.Ala1773Val - ABCA4_000446 - PubMed: Biswas 2017 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease Pedigree 3 III-II PubMed: Biswas 2017 Sibling of Ped. 3 III:I and III:III M no - white - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T; p.Ala1773Val - ABCA4_000446 - PubMed: Biswas 2017 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease Pedigree 3 III-III PubMed: Biswas 2017 Sibling of Ped. 3 III:I and III:II M no - white - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C.T - ABCA4_000446 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 27 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T (p.Ala1773Val) - ABCA4_000446 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3392 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T (p.Ala1773Val) - ABCA4_000446 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3469 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.Ala1773Val - ABCA4_000446 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 623 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.Ala1773Val - ABCA4_000446 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 624 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.Ala1773Val - ABCA4_000446 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 625 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P1 PubMed: López-Rubio 2018 - F ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P2 PubMed: López-Rubio 2018 - F ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P3 PubMed: López-Rubio 2018 - F ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P4 PubMed: López-Rubio 2018 - F ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P5 PubMed: López-Rubio 2018 - F ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P6 PubMed: López-Rubio 2018 - F ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P7 PubMed: López-Rubio 2018 - F ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P8 PubMed: López-Rubio 2018 - M ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Heterozygous - ABCA4_000446 no variant 2nd chromosome PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P9 PubMed: López-Rubio 2018 - M ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A Homozygous - ABCA4_000446 - PubMed: López-Rubio 2018 - - Unknown yes - - - - DNA SEQ - - retinal disease P10 PubMed: López-Rubio 2018 - F ? Mexico Mexico-C - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.A1773V - ABCA4_000446 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 6 PubMed: Paavo 2018 - - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 897 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 898 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 899 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.A1773V - ABCA4_000446 - PubMed: Liu 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - - retinal disease RP01-II:1 PubMed: Liu 2020 Two additional variants were found in USH2A (c.1624A>G p.S542G and c.4758+3A>G) M ? China China - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.(Ala1773Val) - ABCA4_000446 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1343 PubMed: Del Pozo-Valero 2020 - - yes Spain - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T,p.Ala1773Val - ABCA4_000446 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease RP-134 PubMed: Huang 2017 - - ? China China - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T (p.Ala1773Val) [27] - ABCA4_000446 - PubMed: Huang 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP048 PubMed: Huang 2018 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.(Ala1773Val) - ABCA4_000446 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1180 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318G>A p.(Ala1773Val) - ABCA4_000446 - PubMed: Wang 2019 - - Unknown yes - - - - DNA SEQ-NG-I - OTSP retinal disease #13747 PubMed: Wang 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.(Ala1773Val) - ABCA4_000446 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4893 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Both (homozygous) - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.Ala1773Val homo - ABCA4_000446 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2012-311-029 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1888-3373 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ - - retinal disease 265-1673 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2920-3615 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ - - retinal disease 4846-5905 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ - - retinal disease 5153-7127 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.A1773V - ABCA4_000446 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10026 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.A1773V - ABCA4_000446 - PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 23 PubMed: Duncker 2014 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A p.(A1773V) - ABCA4_000446 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90154 PubMed: Lee 2017 - M ? - India - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T (p.Ala1773Val) - ABCA4_000446 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4515 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T,p.Ala1773Val - ABCA4_000446 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18025 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.Ala1773Val - ABCA4_000446 - PubMed: Zenteno 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 3,529 PubMed: Zenteno 2019 - - ? Mexico Mexico - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.[858+2T>A(;)5318C>T] - ABCA4_000446 - PubMed: Xu 2014 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP342 PubMed: Xu 2014 Olders sister affected as well M no China China - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T - ABCA4_000446 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A002 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.(Ala1773Val) - ABCA4_000446 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1212 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.(Ala1773Val) - ABCA4_000446 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1230 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.(Ala1773Val) - ABCA4_000446 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1376 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T p.(Ala1773Val) - ABCA4_000446 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease RP-0532 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T/p.A1773V - ABCA4_000446 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 158 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T/p.A1773V - ABCA4_000446 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 140 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T/p.A1773V - ABCA4_000446 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 715 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318 C>T GCG>GTG, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1630-2192 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ - - retinal disease 1632-2192 PubMed: Goetz 2020 1632 is a family member of 1631 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ - - retinal disease 1633-2192 PubMed: Goetz 2020 1633 is a family member of 1632 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ - - retinal disease 2601-3256 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A g.94014685G>A c.5318C>T, p.Ala1773Val Heterozygous - ABCA4_000446 - PubMed: Goetz 2020 - - Unknown - 14, 121408, 0, 0.0001153 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3193-3931 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.5318C>T r.(5318c>u) p.(Ala1773Val) Paternal (confirmed) ACMG pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010656 PubMed: Tian 2022, PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A - c.5318C>T - ABCA4_000446 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.5318C>T r.(?) p.(Ala1773Val) Unknown - pathogenic g.94480241G>A - ABCA4(NM_000350.3):c.5318C>T (p.A1773V) - ABCA4_000446 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #1 - pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.5318C>T r.(?) p.(Ala1773Val) Parent #2 - pathogenic (recessive) g.94480241G>A g.94014685G>A - - ABCA4_000446 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A - c.5318C>T - ABCA4_000446 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70540 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A - c.5318C>T - ABCA4_000446 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70840 PubMed: Khan 2020 - M - New Zealand - - - - - 1 LOVD
+?/. 38 c.5318C>T r.(?) p.(Ala1773Val) Unknown - likely pathogenic (recessive) g.94480241G>A - c.5318C>T - ABCA4_000446 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71419 PubMed: Khan 2020 - M - - - - - - - 1 LOVD
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