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.

636 entries on 7 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     
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A - - ABCA4_000019 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Paternal (confirmed) - pathogenic g.94496666G>A g.94031110G>A - - ABCA4_000019 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 3-generation family, 1 affected, unaffected carrier parents/children F no United States - - - - - 1 Johan den Dunnen
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A CCG > CTG - ABCA4_000019 - PubMed: Briggs 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Lewis 1999 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Lewis 1999 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 4 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Lewis 1999 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Lewis 1999 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Lewis 1999 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 4 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Rivera 2000 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Webster 2001 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Parent #1 - VUS g.94496666G>A g.94031110G>A V931 M; P1380L - ABCA4_000019 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Paternal (confirmed) - likely pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Shroyer 2001 - - Germline yes ExAC 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Paternal (confirmed) - likely pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Shroyer 2001 - - Germline yes ExAC 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Both (homozygous) - likely pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Shroyer 2001 - - Germline ? ExAC 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Paternal (confirmed) - pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Shroyer 2001 - - Germline yes ExAC 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Jaakson 2003 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Jaakson 2003 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Jaakson 2003 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Jaakson 2003 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Jaakson 2003 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Jaakson 2003 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Jaakson 2003 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Jaakson 2003 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L(4139C>T) - ABCA4_000019 - PubMed: Stenirri 2004 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Kitiratschky 2008 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
-?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely benign g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Kitiratschky 2008 - - Germline - ExAC 24, 119274, 0, 0.0002012 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Rosenberg 2007 - - Germline - 24, 119274, 0, 0.0002012 - - - 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
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Hwang 2009 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 - M ? Colombia ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Both (homozygous) - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Hwang 2009 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 - F ? Colombia ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Hwang 2009 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 - F ? Colombia ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Hwang 2009 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 - M ? Colombia ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Passerini 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Maia-Lopes 2009 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Maia-Lopes 2009 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Maia-Lopes 2009 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A pro1380leu - ABCA4_000019 - PubMed: Genead 2009 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PCR, PE, SSCA, SEQ - APEX STGD1 - PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A pro1380leu - ABCA4_000019 - PubMed: Genead 2009 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PCR, PE, SSCA, SEQ - APEX STGD1 - PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A Pro1380Leu CCG>CTG - ABCA4_000019 - PubMed: Schindler 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Burke 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Parent #2 - pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Burke 2010 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Both (homozygous) - likely pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Burke 2010 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 - PubMed: Burke 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A P1380L - ABCA4_000019 found no variant 2nd chromosome PubMed: Burke 2010 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Zernant 2011 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Zernant 2011 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Zernant 2011 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A c.4139C>T, p.Pro1380Leu - ABCA4_000019 - PubMed: Roberts 2012 - - Germline - 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A c.4139C>T, p.Pro1380Leu - ABCA4_000019 - PubMed: Roberts 2012 - - Germline - 24, 119274, 0, 0.0002012 - - - 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
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A c.4139C>T, p.Pro1380Leu - ABCA4_000019 - PubMed: Roberts 2012 - - Germline - 24, 119274, 0, 0.0002012 - - - 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
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Downes 2012 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Downes 2012 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Downes 2012 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Downes 2012 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A 4139C>T - ABCA4_000019 - PubMed: Downes 2012 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A p.Pro1380Leu - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A p.Pro1380Leu - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A p.Pro1380Leu - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A p.Pro1380Leu - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Chacón-Camacho 2013 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Riveiro-Alvarez 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Riveiro-Alvarez 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Riveiro-Alvarez 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline ? 24, 119274, 0, 0.0002012 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - likely pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - pathogenic g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4139C>T r.(?) p.(Pro1380Leu) Unknown - VUS g.94496666G>A g.94031110G>A c.4139C>T - ABCA4_000019 - PubMed: Fujinami 2013 - - Germline - 24, 119274, 0, 0.0002012 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
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