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.

375 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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Age at death     

VIP     

Data_av     

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Owner     
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T - - ABCA4_000997 - PubMed: Alapati 2014 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T TGC > TAC - ABCA4_000997 - PubMed: Briggs 2001 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: Lewis 1999 - - Germline ? ExAC 12, 60116, 0, 0.0001996 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T 4469G>A - ABCA4_000997 - PubMed: Webster 2001 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T 4469G>A - ABCA4_000997 - PubMed: Webster 2001 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T 4469G>A - ABCA4_000997 - PubMed: Webster 2001 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - 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
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Maternal (confirmed) - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: Fumagalli 2001 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T 4469G>A - ABCA4_000997 - PubMed: Klevering 2002 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: Jaakson 2003 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 4-generation family, 3 affected F ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 4-generation family, 3 affected F ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 4-generation family, 3 affected F ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 3-generation family, 2 affected M ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 3-generation family, 2 affected M ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - M ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - M ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y (4469C>A) - ABCA4_000997 - PubMed: Stenirri 2004 - - Germline - ExAC 12, 60116, 0, 0.0001996 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 4466+3G>A was also identified in this patient ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Rosenberg 2007 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Rosenberg 2007 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T Cys1490Tyr - ABCA4_000997 - PubMed: Michaelides 2007 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Michaelides 2007 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Duno 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - VUS g.94495071C>T g.94029515C>T c.4469G>A, p.Cys1490Tyr - ABCA4_000997 - PubMed: Roberts 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - 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
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T C1490Y - ABCA4_000997 - PubMed: Testa 2012 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T 4469G>A - ABCA4_000997 - PubMed: Downes 2012 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T 4469G>A - ABCA4_000997 - PubMed: Downes 2012 - - Germline yes 12, 60116, 0, 0.0001996 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T 4469G>A - ABCA4_000997 - PubMed: Downes 2012 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely benign g.94495071C>T g.94029515C>T 4469G>A - ABCA4_000997 - PubMed: Downes 2012 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T p.Cys1490Tyr - ABCA4_000997 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Both (homozygous) - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline ? 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 30 c.4469G>A r.(?) p.(Cys1490Tyr) Unknown - likely pathogenic g.94495071C>T g.94029515C>T c.4469G>A - ABCA4_000997 - PubMed: Heathfield 2013 - - Germline - 12, 60116, 0, 0.0001996 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
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