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.

118 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     
+/. 5 c.454C>T r.(?) p.(Arg152*) Parent #2 - pathogenic g.94568687G>A g.94103131G>A - - ABCA4_000024 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A CGA > TGA - ABCA4_000024 - PubMed: Briggs 2001 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A C454T - ABCA4_000024 - PubMed: Zhang 1999 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: Rivera 2000 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A 454C→T - ABCA4_000024 - PubMed: Yatsenko 2001 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A 454C > T - ABCA4_000024 - PubMed: Webster 2001 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A 454C > T - ABCA4_000024 - PubMed: Webster 2001 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline yes ExAC 1, 120844, 0, 0.000008275 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 3-generation family, 2 affected M ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline yes ExAC 1, 120844, 0, 0.000008275 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 3-generation family, 2 affected M ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - retinal disease - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A C-to-T transition, at nucleotide 450 - ABCA4_000024 - PubMed: Souied 1999 - - Germline - ExAC 1, 120844, 0, 0.000008275 - - - DNA SSCA, SEQ - - ? - PubMed: Souied 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A Arg152Stop CGA>TGA - ABCA4_000024 - PubMed: Schindler 2010 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T, p.Arg152* - ABCA4_000024 - PubMed: Roberts 2012 - - Germline - 1, 120844, 0, 0.000008275 - - - 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
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T, p.Arg152* - ABCA4_000024 - PubMed: Roberts 2012 - - Germline - 1, 120844, 0, 0.000008275 - - - 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
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T, p.Arg152* - ABCA4_000024 - PubMed: Roberts 2012 - - Germline - 1, 120844, 0, 0.000008275 - - - 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
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T, p.Arg152* - ABCA4_000024 - PubMed: Roberts 2012 - - Germline - 1, 120844, 0, 0.000008275 - - - 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
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T, p.Arg152* - ABCA4_000024 - PubMed: Roberts 2012 - - Germline - 1, 120844, 0, 0.000008275 - - - 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
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T, p.Arg152* - ABCA4_000024 - PubMed: Roberts 2012 - - Germline - 1, 120844, 0, 0.000008275 - - - 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
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Heathfield 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 120844, 0, 0.000008275 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 120844, 0, 0.000008275 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - VUS g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: Cideciyan 2009 - - Germline - 1, 120844, 0, 0.000008275 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: Cideciyan 2009 - - Germline - 1, 120844, 0, 0.000008275 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: Cideciyan 2009 - - Germline - 1, 120844, 0, 0.000008275 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(454c>u) p.(Arg152Ter) Parent #1 ACMG pathogenic (recessive) g.94568687G>A g.94103131G>A - - ABCA4_000024 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.454C>T r.(?) p.(Arg152Ter) Unknown - pathogenic g.94568687G>A g.94103131G>A - - ABCA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.454C>T r.(?) p.(Arg152*) Parent #1 - likely pathogenic (recessive) g.94568687G>A g.94103131G>A - - ABCA4_000024 - 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
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A - - ABCA4_000024 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat68 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.454C>T r.(?) p.(Arg152*) Unknown - likely pathogenic g.94568687G>A g.94103131G>A - - ABCA4_000024 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 11011507 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A R152X - ABCA4_000024 - PubMed: Cideciyan 2007 - - Unknown - - - - - DNA ? - - retinal disease 1 PubMed: Cideciyan 2007 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A Arg152Ter - ABCA4_000024 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 88 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.R152X - ABCA4_000024 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 19572 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.(R152*) - ABCA4_000024 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 388 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T (p.Arg152*) - ABCA4_000024 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3323 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T (p.Arg152*) - ABCA4_000024 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3376 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T, p.Arg152Ter - ABCA4_000024 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11034 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T, p.Arg152Ter - ABCA4_000024 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16011 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T, p.Arg152Ter - ABCA4_000024 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16020 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454 C>T - ABCA4_000024 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 709 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.(Arg152*) - ABCA4_000024 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0394 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.(Arg152*) - ABCA4_000024 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2601 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.(Arg152*) - ABCA4_000024 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4901 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.(Arg152*) - ABCA4_000024 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2601-1 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.Arg152* het - ABCA4_000024 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-106-216 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.Arg152* Het - ABCA4_000024 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-206-491 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T, p.Arg152Stop Heterozygous - ABCA4_000024 - PubMed: Goetz 2020 - - Unknown - 1, 120844, 0, 0.000008275 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2343-2978 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Both (homozygous) - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T, p.Arg152Stop Homozygous - ABCA4_000024 - PubMed: Goetz 2020 - - Unknown - 1, 120844, 0, 0.000008275 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4682-5688 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T, p.Arg152* Heterozygous - ABCA4_000024 - PubMed: Goetz 2020 - - Unknown - 1, 120844, 0, 0.000008275 - - - DNA SEQ - - retinal disease 679-1225 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T, p.Arg152Ter heterozygous - ABCA4_000024 - PubMed: Goetz 2020 - - Unknown - 1, 120844, 0, 0.000008275 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 917-1440 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T, p.Arg152Stop Heterozygous - ABCA4_000024 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 120844, 0, 0.000008275 - - - DNA SEQ - - retinal disease 918-1440 PubMed: Goetz 2020 918 is a family member of 917 - ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Parent #2 - pathogenic (recessive) g.94568687G>A g.94103131G>A p.Arg152* - ABCA4_000024 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 68 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Both (homozygous) - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.R152X - ABCA4_000024 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 3303 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.R152X - ABCA4_000024 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 18671 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T p.R152X - ABCA4_000024 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 20002 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C.T p.Arg152Ter - ABCA4_000024 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P18 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C.T p.Arg152Ter - ABCA4_000024 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P3 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Parent #2 - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Midgley 2020 - - Unknown - - - - - DNA PE, SSCA, SEQ - SSCP or APEX or SEQ retinal disease Unknown 1097 PubMed: Midgley 2020 - - ? South Africa - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Parent #2 - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Midgley 2020 - - Unknown - - - - - DNA PE, SSCA, SEQ - SSCP or APEX or SEQ retinal disease Unknown 1100 PubMed: Midgley 2020 - - ? South Africa - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Parent #2 - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454C>T - ABCA4_000024 - PubMed: Midgley 2020 - - Unknown - - - - - DNA PE, SSCA, SEQ - SSCP or APEX or SEQ retinal disease Unknown 1102 PubMed: Midgley 2020 - - ? South Africa - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A g.94103131G>A ABCA4 c.454C>T p.(Arg152Ter) het - ABCA4_000024 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 11011507 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 5 c.454C>T r.(?) p.(Arg152*) Maternal (confirmed) - pathogenic (recessive) g.94568687G>A g.94103131G>A c.454G>A - ABCA4_000024 - PubMed: Patel 2019 - - Unknown yes - - - - DNA SEQ-NG-I - Oculome retinal disease 267 PubMed: Patel 2019 - F no - white - - - - 1 Stéphanie Cornelis
+?/. - c.454C>T r.(?) p.(Arg152Ter) Parent #2 - likely pathogenic g.94568687G>A g.94103131G>A - - ABCA4_000024 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 104 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. 5 c.454C>T r.(?) p.(Arg152*) Unknown ACMG VUS g.94568687G>A g.94103131G>A - - ABCA4_000024 - Tracewska 2021, MolVis in press - - Germline - 0,00041 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 383 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+?/. - c.454C>T r.(?) p.(Arg152*) Unknown ACMG pathogenic g.94568687G>A - - - ABCA4_000024 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - STGD IR_GH_0129 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 5 c.454C>T r.(?) p.(Arg152*) Maternal (confirmed) ACMG pathogenic g.94568687G>A g.94103131G>A - - ABCA4_000024 - PubMed: Tracewska 2019 - - Germline yes 0,00041 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 284 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
+/. 5 c.454C>T r.(?) p.(Arg152*) Maternal (confirmed) ACMG pathogenic g.94568687G>A g.94103131G>A - - ABCA4_000024 - PubMed: Tracewska 2019 - - Germline yes 0,00041 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 325 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+?/. 5 c.454C>T r.(?) p.(Arg152*) Parent #1 - likely pathogenic g.94568687G>A - c.454C>T - ABCA4_000024 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A - c.454C>T(;)3794C>G - ABCA4_000024 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70550 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A - c.454C>T - ABCA4_000024 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70564 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Both (homozygous) - pathogenic (recessive) g.94568687G>A - c.454C>T - ABCA4_000024 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70598 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Both (homozygous) - pathogenic (recessive) g.94568687G>A - c.454C>T - ABCA4_000024 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70598 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A - c.454C>T - ABCA4_000024 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70616 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A - c.454C>T - ABCA4_000024 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70632 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Unknown - pathogenic (recessive) g.94568687G>A - c.454C>T - ABCA4_000024 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70634 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 5 c.454C>T r.(?) p.(Arg152*) Parent #1 - pathogenic (recessive) g.94568687G>A - c.[454C>T;6148G>C] - ABCA4_000024 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70854 PubMed: Khan 2020 - M - Poland - - - - - 1 LOVD
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