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.

115 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     
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Both (homozygous) - likely pathogenic g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline yes ExAC 5, 120988, 0, 0.00004133 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? yes France ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A C3056T - ABCA4_000660 - PubMed: Rozet 1998 - - Germline - ExAC 5, 120988, 0, 0.00004133 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Both (homozygous) - likely pathogenic g.94509026G>A g.94043470G>A T1019 M - ABCA4_000660 - PubMed: Fumagalli 2001 - - Germline - ExAC 5, 120988, 0, 0.00004133 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 2-generation family, 2 affected - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Both (homozygous) - likely pathogenic g.94509026G>A g.94043470G>A T1019 M - ABCA4_000660 - PubMed: Fumagalli 2001 - - Germline - ExAC 5, 120988, 0, 0.00004133 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 2-generation family, 2 affected M - Italy - - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A c.3056T>C - ABCA4_000660 - PubMed: Rosenberg 2007 - - Germline - 5, 120988, 0, 0.00004133 - - - 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
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A c.3056T>C - ABCA4_000660 - PubMed: Rosenberg 2007 - - Germline - 5, 120988, 0, 0.00004133 - - - 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
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A T1019M - ABCA4_000660 - PubMed: Passerini 2010 - - Germline ? 5, 120988, 0, 0.00004133 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A T1019M - ABCA4_000660 - PubMed: Passerini 2010 - - Germline ? 5, 120988, 0, 0.00004133 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A T1019M - ABCA4_000660 - PubMed: Passerini 2010 - - Germline ? 5, 120988, 0, 0.00004133 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A T1019M - ABCA4_000660 - PubMed: Passerini 2010 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A Thr1019Met ACG>ATG - ABCA4_000660 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met - ABCA4_000660 - PubMed: Roberts 2012 - - Germline - 5, 120988, 0, 0.00004133 - - - 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
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A 3056C>T - ABCA4_000660 - PubMed: Downes 2012 - - Germline ? 5, 120988, 0, 0.00004133 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A p.Thr1019Met - ABCA4_000660 - PubMed: Fujinami 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A p.Thr1019Met - ABCA4_000660 - PubMed: Fujinami 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 5, 120988, 0, 0.00004133 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 5, 120988, 0, 0.00004133 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 5, 120988, 0, 0.00004133 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Riveiro-Alvarez 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Riveiro-Alvarez 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Riveiro-Alvarez 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met - ABCA4_000660 - PubMed: Fujinami 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met - ABCA4_000660 - PubMed: Fujinami 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - VUS g.94509026G>A g.94043470G>A c.3056C>T, p.Asp574Asp fs*582 - ABCA4_000660 - PubMed: Fujinami 2013 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Maternal (confirmed) - likely pathogenic g.94509026G>A g.94043470G>A p.T1019M - ABCA4_000660 - PubMed: Zernant 2014 - - Germline yes 5, 120988, 0, 0.00004133 - - - DNA arrayCGH, SEQ-NG-R, SEQ-NG-I, SEQ - - STGD1 - PubMed: Zernant 2014 - M ? - USA, Spain, Italy or Denmark - - - - 1 Stéphanie Cornelis
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A T1019M - ABCA4_000660 - PubMed: Cideciyan 2009 - - Germline - 5, 120988, 0, 0.00004133 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(3056c>u) p.(Thr1019Met) Parent #1 ACMG pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A - - ABCA4_000660 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - F no Israel Turkey;Morocco;Jewish - - - - 1 Dror Sharon
+?/. - c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic g.94509026G>A g.94043470G>A - - ABCA4_000660 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3056C>T r.(?) p.(Thr1019Met) Unknown ACMG likely pathogenic g.94509026G>A - - - ABCA4_000660 - 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.3056C>T r.(?) p.(Thr1019Met) Unknown ACMG pathogenic g.94509026G>A - - - ABCA4_000660 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 8052 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown ACMG likely pathogenic g.94509026G>A - - - ABCA4_000660 - 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
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown ACMG likely pathogenic g.94509026G>A - - - ABCA4_000660 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F ? Argentina - - - - - 1 Marcela Mena
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 - pathogenic (recessive) g.94509026G>A g.94043470G>A p.T1019M - ABCA4_000660 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10216 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A T1019M - ABCA4_000660 - PubMed: Aleman 2007PubMed: Cideciyan 2007 - - Unknown - - - - - DNA ? - - retinal disease 6 PubMed: Aleman 2007PubMed: Cideciyan 2007 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A Thr1019Met - ABCA4_000660 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 189 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A Thr1019Met - ABCA4_000660 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 190 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A Thr1019Met - ABCA4_000660 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 191 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A Thr1019Met - ABCA4_000660 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 192 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A Thr1019Met - ABCA4_000660 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 193 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 - pathogenic (recessive) g.94509026G>A g.94043470G>A p.[Thr1019Met];[Gly1961Glu] - ABCA4_000660 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 31 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T (p.Thr1019Met) - ABCA4_000660 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3081 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Both (homozygous) - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T (p.Thr1019Met) - ABCA4_000660 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3589 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A p.Thr1019Met - ABCA4_000660 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 613 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met - ABCA4_000660 - PubMed: Khan 2018 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease 8K1 PubMed: Khan 2018 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T (p.Thr1019Met) - ABCA4_000660 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 31 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T,p.Thr1019Met - ABCA4_000660 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16043 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Both (homozygous) - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(T1019M) - ABCA4_000660 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8 PubMed: Lee 2018 - M ? United States white - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 812 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(Thr1019Met) - ABCA4_000660 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0286 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(Thr1019Met) - ABCA4_000660 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0779 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(Thr1019Met) - ABCA4_000660 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1223 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(Thr1019Met) - ABCA4_000660 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1201 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T/p.T1019M - ABCA4_000660 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 360 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.Thr1019Met het - ABCA4_000660 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2015-041-008 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met Heterozygous - ABCA4_000660 - PubMed: Goetz 2020 - - Unknown - 5, 120988, 0, 0.00004133 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1992-3493 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met Heterozygous - ABCA4_000660 - PubMed: Goetz 2020 - - Unknown - 5, 120988, 0, 0.00004133 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3103-3862 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.(Thr1019Met) Heterozygous - ABCA4_000660 - PubMed: Goetz 2020 - - Unknown - 5, 120988, 0, 0.00004133 - - - DNA SEQ - - retinal disease 4394-6232 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 - pathogenic (recessive) g.94509026G>A g.94043470G>A (p.T1hr019Met) - ABCA4_000660 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 7 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A T1019M - ABCA4_000660 - PubMed: Wiszniewski 2005 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 9 PubMed: Wiszniewski 2005 - - no United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A T1019M - ABCA4_000660 - PubMed: Wiszniewski 2005 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 15 PubMed: Wiszniewski 2005 - - no United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T (p.Thr1019Met - ABCA4_000660 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 8 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T (p.T1hr019Met) - ABCA4_000660 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 36 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #2 - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T (p.Thr1019Met) - ABCA4_000660 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4472 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.C3056T:p.T1019M - ABCA4_000660 - PubMed: Jimenez-Rolando 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Case 1 PubMed: Jimenez-Rolando 2018 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #2 - pathogenic (recessive) g.94509026G>A g.94043470G>A p.Thr1019Met - ABCA4_000660 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam J II 2 PubMed: Salles 2017 - F no Brazil - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T,p.Thr1019Met - ABCA4_000660 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12039 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #2 - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(Thr1019Met) - ABCA4_000660 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC09219 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #2 - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.Thr1019Met - ABCA4_000660 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 10 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #2 - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T - ABCA4_000660 - PubMed: Midgley 2020 - - Unknown - - - - - DNA PE, SSCA, SEQ - SSCP or APEX or SEQ retinal disease Unknown 1101 PubMed: Midgley 2020 - - ? South Africa - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #2 - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(Thr1019Met) - ABCA4_000660 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0584 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(T1hr019Met) - ABCA4_000660 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 7 PubMed: Sodi 2018 likely a sibling of patient 8 - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(T1hr019Met) - ABCA4_000660 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 8 PubMed: Sodi 2018 likely a sibling of patient 7 - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(T1hr019Met) - ABCA4_000660 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 50 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.(Thr1019Met) - ABCA4_000660 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8052 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.Thr1019Met het - ABCA4_000660 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2016-092-041 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T p.Thr1019Met het - ABCA4_000660 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-083-103 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met Heterozygous - ABCA4_000660 - PubMed: Goetz 2020 - - Unknown - 5, 120988, 0, 0.00004133 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1667-2230 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met Heterozygous - ABCA4_000660 - PubMed: Goetz 2020 - - Unknown - 5, 120988, 0, 0.00004133 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2390-3053 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met Heterozygous - ABCA4_000660 - PubMed: Goetz 2020 - - Unknown - 5, 120988, 0, 0.00004133 - - - DNA SEQ - - retinal disease 2576-3230 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met Heterozygous - ABCA4_000660 - PubMed: Goetz 2020 - - Unknown - 5, 120988, 0, 0.00004133 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3712-4517 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A c.3056C>T, p.Thr1019Met Heterozygous - ABCA4_000660 - PubMed: Goetz 2020 - - Unknown - 5, 120988, 0, 0.00004133 - - - DNA SEQ - - retinal disease 6120-7620 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 12 c.3056C>T r.(?) p.(Thr1019Met) Maternal (confirmed) ACMG pathogenic g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 289 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Both (homozygous) - likely pathogenic g.94509026G>A g.94043470G>A ABCA4 Ex.21 c.3056C>T p.(Thr1019Met), Ex.21 c.3056C>T p.(Thr1019Met) - ABCA4_000660 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2210 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.3056C>T r.(?) p.(Thr1019Met) Unknown ACMG likely pathogenic g.94509026G>A g.94043470G>A ABCA4 c.3056C>T, p.(Thr1019Met) - ABCA4_000660 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.076 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+/. - c.3056C>T r.(3056c>u) p.(Thr1019Met) Paternal (confirmed) ACMG pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 no variant 2nd chromosome PubMed: Tian 2022, PubMed: Tian 2024 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 010436 PubMed: Tian 2022, PubMed: Tian 2024 - F no China - - - - - 1 Lu Tian
+?/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - likely pathogenic (recessive) g.94509026G>A - c.3056C>T - ABCA4_000660 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.3056C>T r.(?) p.(Thr1019Met) Parent #1 - pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.3056C>T r.(?) p.(Thr1019Met) Parent #2 - pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.3056C>T r.(?) p.(Thr1019Met) Parent #2 - pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A - c.3056C>T - ABCA4_000660 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70986 PubMed: Khan 2020 - F - Spain - - - - - 1 LOVD
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A - c.3056C>T - ABCA4_000660 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71394 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 ACMG pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat39 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 ACMG pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat195 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 ACMG pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat201 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 ACMG pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat205 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 21 c.3056C>T r.(?) p.(Thr1019Met) Parent #1 ACMG pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat278 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.3056C>T r.(?) p.(Thr1019Met) Parent #1 - pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0253 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3056C>T r.(?) p.(Thr1019Met) Unknown - pathogenic (recessive) g.94509026G>A g.94043470G>A - - ABCA4_000660 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0393 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
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