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.

435 entries on 5 pages. Showing entries 1 - 100.
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+/. 6 c.768G>H r.(=) p.V256V Unknown - pathogenic g.94564350C>A - V256V - ABCA4_000045 - PubMed: Shanks 2013 - - Germline - - - - - DNA SEQ-NG, PCR - - retinal disease - PubMed: Shanks-2013 - - - - - - - - - 1 LOVD
?/. 6 c.768G>H r.spl? p.(Val256=) Unknown ACMG VUS g.94564350C>H g.94098794C>H - - ABCA4_000045 ACMG PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.768G>T r.spl? p.(Val256=) Unknown - VUS g.94564350C>A g.94098794C>A - - ABCA4_000045 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - CORD3 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 6 c.768G>T r.spl? p.(?) Maternal (confirmed) - likely pathogenic g.94564350C>A g.94098794C>A - - ABCA4_000045 - PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 4-generation family, 3 affecteds, 6 unaffected heterozygous carriers, patient AIV2 F no Netherlands - - - - - 1 Nathalie Bax
+?/. 6 c.768G>T r.spl? p.(?) Parent #1 - likely pathogenic g.94564350C>A g.94098794C>A - - ABCA4_000045 - PubMed: Bax 2014 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 2 affecteds (F, M), unaffected parents, patient BII1 M - Netherlands - - - - - 2 Nathalie Bax
+?/. 6 c.768G>T r.spl? p.(?) Parent #1 - likely pathogenic g.94564350C>A g.94098794C>A - - ABCA4_000045 - PubMed: Bax 2015 - - Germline yes - - - - DNA MLPA, SEQ - - STGD1 - PubMed: Bax 2015 patient BII2 F no Netherlands - - - - - 1 Nathalie Bax
-?/. 6 c.768G>T r.spl? p.(?) Unknown - likely benign g.94564350C>A g.94098794C>A - - ABCA4_000045 - PubMed: Eisenberger 2013 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - M no Germany white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A - - ABCA4_000045 - PubMed: Eisenberger 2013 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F no Germany German - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A - - ABCA4_000045 - PubMed: Glockle 2014 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA SEQ-NG-S - - CORD - PubMed: Glockle 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A - - ABCA4_000045 May affect splicing PubMed: Alapati 2014 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Maugeri 1999 - - Germline ? ExAC 13, 121216, 0, 0.0001072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Klevering 2004 - - Germline ? ExAC 13, 121216, 0, 0.0001072 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Klevering 2004 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Klevering 2004 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A G768T - ABCA4_000045 - PubMed: Rivera 2000 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Rivera 2000 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
-?/. 6 c.768G>T r.spl? p.(?) Maternal (confirmed) - likely benign g.94564350C>A g.94098794C>A 768G→T - ABCA4_000045 - PubMed: Yatsenko 2001 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(Leu257Valfs*17) Parent #1 - pathogenic (recessive) g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Klevering 2002, PubMed: Sangermano 2019 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - CORD ?;FamBPatI2 PubMed: Klevering 2002, PubMed: Sangermano 2019 - F ? (Germany);(Netherlands) ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A Splice/V256V - ABCA4_000045 - PubMed: Jaakson 2003 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A Splice/V256V - ABCA4_000045 - PubMed: Jaakson 2003 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A Splice/V256V - ABCA4_000045 - PubMed: Jaakson 2003 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - 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
+?/. 6 c.768G>T r.spl? p.(?) Both (homozygous) - likely pathogenic g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Klevering 2004 - - Germline ? ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - retinal disease - PubMed: Klevering 2004 4-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Klevering 2004 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Klevering 2004 4-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Klevering 2004 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Klevering 2004 4-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
-?/. 6 c.768G>T r.spl? p.(?) Paternal (confirmed) - likely benign g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Klevering 2004 - - Germline ? ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Klevering 2004 4-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A V256splice - ABCA4_000045 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A V256splice - ABCA4_000045 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A V256splice - ABCA4_000045 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - retinal disease - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A V256splice - ABCA4_000045 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A V256splice - ABCA4_000045 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G→T - ABCA4_000045 - PubMed: Simonelli 2005 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Klevering 2005 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A 768G→T - ABCA4_000045 - PubMed: Simonelli 2005 - - Germline ? ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - ? - PubMed: Klevering 2005 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G→T - ABCA4_000045 - PubMed: Simonelli 2005 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - ? - PubMed: Klevering 2005 - F ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A 768G→T - ABCA4_000045 - PubMed: Simonelli 2005 - - Germline ? ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - ? - PubMed: Klevering 2005 - F ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Both (homozygous) - VUS g.94564350C>A g.94098794C>A 768G→T - ABCA4_000045 - PubMed: Simonelli 2005 - - Germline ? ExAC 13, 121216, 0, 0.0001072 - - - DNA SSCA, SEQ - - retinal disease - PubMed: Klevering 2005 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A (768G>T) - ABCA4_000045 - PubMed: Valverde 2006 - - Germline - ExAC 13, 121216, 0, 0.0001072 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A V256V - ABCA4_000045 - PubMed: Rosenberg 2007 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Rosenberg 2007 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Rosenberg 2007 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A V256splice - ABCA4_000045 found no variant 2nd chromosome PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Stenirri 2008 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Ernest 2009 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Ernest 2009 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Ernest 2009 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Ernest 2009 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Ernest 2009 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Ernest 2009 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Ernest 2009 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Horn 2010 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA SEQ - - ? - PubMed: Horn 2010 - F ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A Val256Val GTG>GTT - ABCA4_000045 - PubMed: Schindler 2010 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A Val256Val GTG>GTT - ABCA4_000045 - PubMed: Schindler 2010 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - CORD - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A Val256Val GTG>GTT - ABCA4_000045 - PubMed: Schindler 2010 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A Val256Val GTG>GTT - ABCA4_000045 - PubMed: Schindler 2010 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Zernant 2011 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T, p.V256V - ABCA4_000045 - PubMed: Roberts 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - 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
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 Pseudo dominant F ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
-?/. 6 c.768G>T r.spl? p.(?) Unknown - likely benign g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 Pseudo dominant F ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Westeneng-van Haaften 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Downes 2012 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Downes 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A 768G>T - ABCA4_000045 - PubMed: Downes 2012 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Fujinami 2013 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Unknown - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 6 c.768G>T r.spl? p.(?) Unknown - pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline - 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
?/. 6 c.768G>T r.spl? p.(?) Both (homozygous) - VUS g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 6 c.768G>T r.spl? p.(?) Unknown - likely pathogenic g.94564350C>A g.94098794C>A c.768G>T - ABCA4_000045 - PubMed: Heathfield 2013 - - Germline ? 13, 121216, 0, 0.0001072 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
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