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.

333 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A - - ABCA4_000117 - PubMed: Huang 2015 - - Germline yes ExAC 6, 119038, 0, 0.0000504 - - - DNA SEQ-NG-I, PCR, SEQ - - RD - PubMed: Huang 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A C1804T - ABCA4_000117 - PubMed: Papaioannou 2000 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: Lewis 1999 - - Germline ? ExAC 6, 119038, 0, 0.0000504 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 - ? ? United States white - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A 1804C>T - ABCA4_000117 - PubMed: Webster 2001 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A 1804C>T - ABCA4_000117 - PubMed: Webster 2001 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A 1804C>T - ABCA4_000117 - PubMed: Webster 2001 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - 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
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 4-generation family, 3 affected F ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 4-generation family, 3 affected F ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 4-generation family, 3 affected F ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A (1804C>T) - ABCA4_000117 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 6, 119038, 0, 0.0000504 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - M ? Spain - - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Maia-Lopes 2009 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C<T - ABCA4_000117 - PubMed: Maia-Lopes 2009 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: Burke 2010 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Zernant 2011, PubMed: Burke 2014 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011, PubMed: Burke 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Roberts 2012 - - Germline - 6, 119038, 0, 0.0000504 - - - 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
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Parent #1 - likely pathogenic g.94528266G>A g.94062710G>A 1804C>T;2828G>A - ABCA4_000117 - PubMed: Chacón-Camacho 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - VUS g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - VUS g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - VUS g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - VUS g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Heathfield 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Both (homozygous) - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Riveiro-Alvarez 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - VUS g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Fujinami 2013 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804 C>T - ABCA4_000117 - PubMed: Zaneveld 2015 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804 C>T - ABCA4_000117 - PubMed: Zaneveld 2015 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804 C>T - ABCA4_000117 - PubMed: Zaneveld 2015 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Maternal (confirmed) - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Xin 2015 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 2-generation family, 2 affected M ? China ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Maternal (confirmed) - pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Xin 2015 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 2-generation family, 2 affected M ? China ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A c.1804C>T - ABCA4_000117 - PubMed: Xin 2015 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 2-generation family, 2 affected F ? China ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Maternal (confirmed) - likely pathogenic g.94528266G>A g.94062710G>A c.1804 C>T - ABCA4_000117 - PubMed: Kjellström 2015 - - Germline ? 6, 119038, 0, 0.0000504 - - - DNA PE - APEX STGD1 - PubMed: Kjellström 2015 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - pathogenic g.94528266G>A g.94062710G>A p.[R602W] - ABCA4_000117 - PubMed: Nõupuu 2015 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA SEQ-NG, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2015 - F ? - Asian-white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Unknown - likely pathogenic g.94528266G>A g.94062710G>A R602W - ABCA4_000117 - PubMed: Cideciyan 2009 - - Germline - 6, 119038, 0, 0.0000504 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1804C>T r.(1804c>u) p.(Arg602Trp) Parent #1 ACMG pathogenic (recessive) g.94528266G>A g.94062710G>A - - ABCA4_000117 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; multiple other variant changes at the same position are enriched in >3000 likely Caucasian STGD1 patients, supporting pathogenicity according to ACMG guidelines PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Parent #1 - likely pathogenic g.94528266G>A g.94062710G>A - - ABCA4_000117 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Parent #2 - VUS g.94528266G>A g.94062710G>A - - ABCA4_000117 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P41 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Parent #1 - VUS g.94528266G>A g.94062710G>A - - ABCA4_000117 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P42 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Parent #1 - VUS g.94528266G>A g.94062710G>A - - ABCA4_000117 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P43 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
?/. 13 c.1804C>T r.(?) p.(Arg602Trp) Parent #2 - VUS g.94528266G>A g.94062710G>A - - ABCA4_000117 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P52 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
+/. - c.1804C>T r.(?) p.(Arg602Trp) Unknown ACMG pathogenic g.94528266G>A - - - ABCA4_000117 ACMG grading: PS4,PM2,PM3,PP1,PP3 Ortube et al. 2014. BMC Med Genet 15: 11; Cideciyan et al. 2008. Hum Mol Genet 18: 931; Wiszniewski et al. 2005. Hum Mol Genet 14: 2769; Aguirre-Lamban et al. 2011. Invest Ophthalmol Vis Sci 52: 6206 - rs61749409 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.1804C>T r.(?) p.(Arg602Trp) Parent #1 - likely pathogenic (recessive) g.94528266G>A g.94062710G>A - - ABCA4_000117 - 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.1804C>T r.(?) p.(Arg602Trp) Maternal (confirmed) ACMG pathogenic (recessive) g.94528266G>A - - - ABCA4_000117 - Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel CORD 8710 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.1804C>T r.(?) p.(Arg602Trp) Unknown ACMG pathogenic g.94528266G>A - - - ABCA4_000117 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 3582 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
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