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.

95 entries on 1 page. Showing entries 1 - 95.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Paternal (confirmed) - likely pathogenic g.94473266C>T g.94007710C>T GGC > AGC - ABCA4_000389 - PubMed: Briggs 2001 - - Germline - ExAC 1, 120422, 0, 0.000008304 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Paternal (confirmed) - likely pathogenic g.94473266C>T g.94007710C>T GGC > AGC - ABCA4_000389 - PubMed: Briggs 2001 - - Germline - ExAC 1, 120422, 0, 0.000008304 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-003; 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic g.94473266C>T g.94007710C>T G5929A - ABCA4_000389 - PubMed: Rozet 1998 - - Germline ? ExAC 1, 120422, 0, 0.000008304 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T G1977S - ABCA4_000389 - PubMed: Rivera 2000 - - Germline yes ExAC 1, 120422, 0, 0.000008304 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T G1977S - ABCA4_000389 - PubMed: Shroyer 2001 - - Germline - ExAC 1, 120422, 0, 0.000008304 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 - - ? - ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T GGC 5929 AGC - ABCA4_000389 - PubMed: Ducroq 2002 - - Germline ? ExAC 1, 120422, 0, 0.000008304 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? United Kingdom (Great Britain) England - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T (5929G>A) - ABCA4_000389 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 1, 120422, 0, 0.000008304 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - M ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Both (homozygous) - likely pathogenic g.94473266C>T g.94007710C>T [2828G>A;5929G>A] - ABCA4_000389 - PubMed: Valverde 2007 - - Germline yes ExAC 1, 120422, 0, 0.000008304 - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
+/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic g.94473266C>T g.94007710C>T G1977S - ABCA4_000389 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T G1977S - ABCA4_000389 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - VUS g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 120422, 0, 0.000008304 - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - VUS g.94473266C>T g.94007710C>T c.5929G>A(False>) - ABCA4_000389 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 120422, 0, 0.000008304 - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - VUS g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX retinal disease - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Both (homozygous) - likely pathogenic g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - VUS g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 120422, 0, 0.000008304 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5929G>A r.(5929g>a) p.(Gly1977Ser) Parent #1 ACMG pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Both (homozygous) - likely pathogenic g.94473266C>T g.94007710C>T - - ABCA4_000389 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Morocco;Jewish - - - - 1 Dror Sharon
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61750639 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #1 - likely pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - 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.5929G>A r.(?) p.(Gly1977Ser) Unknown ACMG likely pathogenic g.94473266C>T - - - ABCA4_000389 - 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
+/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat24 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat35 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown ACMG likely pathogenic g.94473266C>T - - - ABCA4_000389 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T G1977S - ABCA4_000389 no variant 2nd chromosome PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 17 PubMed: Aleman 2007 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T Gly1977Ser - ABCA4_000389 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 156 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T Gly1977Ser - ABCA4_000389 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 157 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T Gly1977Ser - ABCA4_000389 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 158 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T Gly1977Ser - ABCA4_000389 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 159 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T Het NM_000350.2: c.5929G>A; - ABCA4_000389 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 30 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 753 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A - ABCA4_000389 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1023 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A; - ABCA4_000389 - PubMed: Zanolli 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 1074 PubMed: Zanolli 2020 - - ? Chile - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A; - ABCA4_000389 - PubMed: Zanolli 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 1088 PubMed: Zanolli 2020 - - ? Chile - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T p.Leu2027Phe/p.Gly1977Ser - ABCA4_000389 - PubMed: Coco-Martin 2020 - - Unknown - - - - - DNA SEQ - - retinal disease F2-III-6 PubMed: Coco-Martin 2020 Another mutation was found in PRPH2: p.Arg46Ter; grandfather on fathers side also affected M no Spain white - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0799 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1171 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 no variant 2nd chromosome PubMed: Wang 2019 - - Unknown - - - - - DNA SEQ-NG-I - OTSP retinal disease #14526 PubMed: Wang 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1261 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Both (homozygous) - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.[5929G>A;1294G>A] p.[Gly1977Ser;Glu432Lys] - ABCA4_000389 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5135 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - likely pathogenic (recessive) g.94473266C>T g.94007710C>T p.G1977S - ABCA4_000389 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10135 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - likely pathogenic (recessive) g.94473266C>T g.94007710C>T p.G1977S - ABCA4_000389 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 19156 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #1 - likely pathogenic (recessive) g.94473266C>T g.94007710C>T p.Gly1977Ser - ABCA4_000389 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 24 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T p.Gly1977Ser - ABCA4_000389 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 35 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Paternal (confirmed) - likely pathogenic (recessive) g.94473266C>T g.94007710C>T Gly1977Ser - ABCA4_000389 - PubMed: Souied 1999 - - Unknown yes - - - - DNA SSCA, SEQ - - retinal disease III.3, fam 2 PubMed: Souied 1999 - - no France - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T G1977S - ABCA4_000389 - PubMed: Scholl 2001PubMed: Reinhard 2007 - - Unknown - - - - - DNA SEQ - - retinal disease 28; 19 PubMed: Scholl 2001PubMed: Reinhard 2007 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A (p.Gly1977Ser) - ABCA4_000389 - PubMed: Verdina 2012 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease PE PubMed: Verdina 2012 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.G1977S - ABCA4_000389 - PubMed: Lin 2016 - - Unknown yes - - - - DNA SEQ-NG-I - WES retinal disease F3:II:2 PubMed: Lin 2016 - M no China China - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A (p.Gly1977Ser) - ABCA4_000389 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 26 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A,p.Gly1977Ser - ABCA4_000389 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13063 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A,p.Gly1977Ser - ABCA4_000389 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13099 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.Gly1977Ser - ABCA4_000389 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P004 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A/p.(Gly1977Ser )// c.6079C>T/p.(Leu2027Phe) - ABCA4_000389 - PubMed: Müller 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 11 PubMed: Müller 2020 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0279 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0819 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0925 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1072 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1257 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 34 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T g.94007710C>T c.5929G>A p.(Gly1977Ser) - ABCA4_000389 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 35 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - likely pathogenic (recessive) g.94473266C>T - c.5929G>A/p.(Gly1977Ser )//c.6079C>T/p.(Leu2027Phe) - ABCA4_000389 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 11 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T - c.5929G>A - ABCA4_000389 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70225 PubMed: Khan 2020 - F - Israel - - - - - 1 LOVD
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Unknown - likely pathogenic (recessive) g.94473266C>T - c.5929G>A - ABCA4_000389 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71317 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Maternal (confirmed) ACMG pathogenic (recessive) g.94473266C>T - - - ABCA4_000389 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#23 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+?/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Maternal (confirmed) ACMG pathogenic (recessive) g.94473266C>T - - - ABCA4_000389 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#41 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 ACMG pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat49 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 43 c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 ACMG pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat200 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0317 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Both (homozygous) - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0348 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #1 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0365 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Both (homozygous) - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0791 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #1 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0957 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0012 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0062 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0159 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0242 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0327 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0375 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0685 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Both (homozygous) - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0791 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0798 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Parent #2 - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0846 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0941 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0970 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Both (homozygous) - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-306 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Unknown - pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-252 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5929G>A r.(?) p.(Gly1977Ser) Unknown ACMG pathogenic (recessive) g.94473266C>T g.94007710C>T - - ABCA4_000389 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-429 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
Legend   How to query  


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