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.

448 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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VIP     

Data_av     

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Owner     
-?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Paternal (confirmed) - likely benign g.94471065G>A g.94005509G>A C5965T - ABCA4_000384 - PubMed: Allikmets 1997; PubMed: Allikmets 1997 - - Germline ? ExAC 26, 121404, 0, 0.0002142 - - - DNA HD, SEQ - - STGD1 - PubMed: Anderson 1995 - ? ? United States ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Maugeri 1999 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Paternal (confirmed) - likely pathogenic g.94471065G>A g.94005509G>A CTC > TTC - ABCA4_000384 - PubMed: Briggs 2001 - - Germline yes ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A CTC > TTC - ABCA4_000384 - PubMed: Briggs 2001 - - Germline ? ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A CTC > TTC - ABCA4_000384 - PubMed: Briggs 2001 - - Germline ? ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A CTC > TTC - ABCA4_000384 - PubMed: Briggs 2001 - - Germline ? ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Maternal (confirmed) - likely pathogenic g.94471065G>A g.94005509G>A CTC > TTC - ABCA4_000384 - PubMed: Briggs 2001 - - Germline ? ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Maternal (confirmed) - likely pathogenic g.94471065G>A g.94005509G>A CTC > TTC - ABCA4_000384 - PubMed: Briggs 2001 - - Germline ? ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-003; 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A CTC > TTC - ABCA4_000384 - PubMed: Briggs 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A CTC > TTC - ABCA4_000384 - PubMed: Briggs 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: Lewis 1999 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 - ? ? United States white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: Lewis 1999 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: Lewis 1999 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: Lewis 1999 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Parent #1 - VUS g.94471065G>A g.94005509G>A D1204N, L2027F - ABCA4_000384 - PubMed: Lewis 1999 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A C6079T - ABCA4_000384 - PubMed: Nasonkin 1998 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Nasonkin 1998 2-generation family, 2 affected F ? - Chinese - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A C6079T - ABCA4_000384 - PubMed: Nasonkin 1998 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Nasonkin 1998 2-generation family, 2 affected M ? - Chinese - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Maternal (confirmed) - likely pathogenic g.94471065G>A g.94005509G>A 6079C→T - ABCA4_000384 - PubMed: Yatsenko 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 4 affected M yes United States white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Maternal (confirmed) - pathogenic g.94471065G>A g.94005509G>A 6079C→T - ABCA4_000384 - PubMed: Yatsenko 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 4 affected M yes United States white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Maternal (confirmed) - pathogenic g.94471065G>A g.94005509G>A 6079C→T - ABCA4_000384 - PubMed: Yatsenko 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 4 affected M yes United States white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Maternal (confirmed) - pathogenic g.94471065G>A g.94005509G>A 6079C→T - ABCA4_000384 - PubMed: Yatsenko 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 4 affected M yes United States white - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Webster 2001 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - 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
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Paternal (confirmed) - likely pathogenic g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Shroyer 2001 - - Germline yes ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Paternal (confirmed) - pathogenic g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Shroyer 2001 - - Germline yes ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A Leu2027Phe - ABCA4_000384 - PubMed: Fishman 2003 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - M ? - Palestinian - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A Leu2027Phe - ABCA4_000384 - PubMed: Fishman 2003 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - M ? - African American - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004, PubMed: Roberts 2012 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 121404, 0, 0.0002142 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Rosenberg 2007 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Maia-Lopes 2009 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A Leu2027Phe CTC>TTC - ABCA4_000384 - PubMed: Schindler 2010 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: Burke 2010 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 found no variant 2nd chromosome PubMed: Burke 2010 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Zernant 2011 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A c.6079C>T, p.Leu2027Phe - ABCA4_000384 - PubMed: Roberts 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - 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
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: Maia-Lopes 2008 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A L2027F - ABCA4_000384 - PubMed: Testa 2012 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Downes 2012 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Both (homozygous) - likely pathogenic g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Downes 2012 - - Germline yes 26, 121404, 0, 0.0002142 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A 6079C>T - ABCA4_000384 - PubMed: Downes 2012 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A p.Leu2027Phe - ABCA4_000384 - PubMed: Fujinami 2013 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A p.Leu2027Phe - ABCA4_000384 - PubMed: Fujinami 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - VUS g.94471065G>A g.94005509G>A p.Leu2027Phe - ABCA4_000384 - PubMed: Fujinami 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A p.Leu2027Phe - ABCA4_000384 - PubMed: Fujinami 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline - 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6079C>T r.(?) p.(Leu2027Phe) Unknown - likely pathogenic g.94471065G>A g.94005509G>A c.6079C>T - ABCA4_000384 - PubMed: Heathfield 2013 - - Germline ? 26, 121404, 0, 0.0002142 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 - PubMed: Heathfield 2013 - ? ? South Africa white - - - - 1 Stéphanie Cornelis
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