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.

433 entries on 5 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     
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A 3386G>T - ABCA4_000054 - PubMed: Webster 2001 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - 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
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A 3386G>T - ABCA4_000054 - PubMed: Webster 2001 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - 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
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A 3386G>T - ABCA4_000054 - PubMed: Webster 2001 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - 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
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - F ? Spain - - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 - F ? Spain - - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - F ? Spain - - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 - F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - M ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - M ? Spain - - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 455G>A and 6320G>A were also identified in this patient M ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 - M ? Spain - - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 - M ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - M ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - M ? Spain - - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 - F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 Also published in PubMed: Riveiro-Alvarez 2013 F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 Also published in PubMed: Riveiro-Alvarez 2013 F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 Also published in PubMed: Riveiro-Alvarez 2013 F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A (3386G>T) - ABCA4_000054 - PubMed: Valverde 2006 - - Germline - ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 Also published in PubMed: Riveiro-Alvarez 2013 F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A p.Arg1129Leu (c.3386G>T) - ABCA4_000054 - PubMed: Riveiro-Alvarez 2007 - - Uniparental disomy, paternal allele ? ExAC 30, 121388, 0, 0.0002471 - - - DNA PCR, PE, SEQ, MLPA - APEX STGD1 - PubMed: Riveiro-Alvarez 2007 - F no Spain white - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline ? 30, 121388, 0, 0.0002471 - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A Arg1129Leu CGC>CTC - ABCA4_000054 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A Arg1129Stop CGA>TGA - ABCA4_000054 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A 3386G>T - ABCA4_000054 - PubMed: Downes 2012 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Chacón-Camacho 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Chacón-Camacho 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX retinal disease - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013, PubMed: Aguirre-Lamban 2009 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013, PubMed: Aguirre-Lamban 2009 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Both (homozygous) - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013, PubMed: Aguirre-Lamban 2009 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013, PubMed: Aguirre-Lamban 2009 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - VUS g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Riveiro-Alvarez 2013 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Paternal (confirmed) - likely pathogenic g.94506901C>A g.94041345C>A p.R1129L - ABCA4_000054 - PubMed: Zernant 2014 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA arrayCGH, SEQ-NG-R, SEQ-NG-I, SEQ - - STGD1 - PubMed: Zernant 2014 - M ? - USA, Spain, Italy or Denmark - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Maternal (confirmed) - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Fernandez-San Jose 2015 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA SSCA, DGGE, arraySNP, PCRlr, SEQ-NG-I - - retinal disease RP-1875 (1) PubMed: Fernandez-San Jose 2015 3-generation family, 2, possibly 3 affected M ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Maternal (confirmed) - pathogenic g.94506901C>A g.94041345C>A c.3386G>T - ABCA4_000054 - PubMed: Fernandez-San Jose 2015 - - Germline - 30, 121388, 0, 0.0002471 - - - DNA SSCA, DGGE, arraySNP, PCRlr, SEQ-NG-I - - retinal disease RP-1875 (2) PubMed: Fernandez-San Jose 2015 3-generation family, 2, possibly 3 affected. This patient has both mutations but doesn't show signs of the disease (yet). F ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Unknown - likely pathogenic g.94506901C>A g.94041345C>A R1129L - ABCA4_000054 - PubMed: Cideciyan 2009 - - Germline yes 30, 121388, 0, 0.0002471 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 4 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
?/. 23 c.3386G>T r.(?) p.(Arg1129Leu) Maternal (confirmed) - VUS g.94506901C>A g.94041345C>A Gly863Ala and Arg2030Stop - ABCA4_000054 - PubMed: Sánchez-Alcudia 2014 - - Germline ? 30, 121388, 0, 0.0002471 - - - DNA SEQ - - STGD1 RP-0714PatIII3 PubMed: Sánchez-Alcudia 2014 daughter F yes Spain ? - - - - 1 Stéphanie Cornelis
+/. 23 c.3386G>T r.(3386g>u) p.(Arg1129Leu) Parent #1 ACMG pathogenic (recessive) g.94506901C>A g.94041345C>A - - ABCA4_000054 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 23 c.3386G>T r.(?) p.(Arg1129Leu) Paternal (confirmed) ACMG likely pathogenic g.94506901C>A g.94041345C>A - - ABCA4_000054 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - COD 77ORG PubMed: de Castro-Miró 2016 - M no Spain - - - - - 1 Marta de Castro-Miró
+/? - c.3386G>T r.(?) p.(Arg1129Leu) Parent #2 - pathogenic (recessive) g.94506901C>A g.94041345C>A - - ABCA4_000054 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat08 PubMed: Lionel 2018 - M - Canada - - - - - 1 Johan den Dunnen
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