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.

369 entries on 4 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)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

Template     

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Remarks     

Disease     

ID_report     

Reference     

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Owner     
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Paternal (confirmed) - pathogenic g.94508323G>A g.94042767G>A - - ABCA4_000031 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A - - ABCA4_000031 - PubMed: Alapati 2014 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A CGC > TGC - ABCA4_000031 - PubMed: Briggs 2001 - - Germline ? ExAC 14, 121282, 0, 0.0001154 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Paternal (confirmed) - likely pathogenic g.94508323G>A g.94042767G>A CGC > CTC - ABCA4_000031 - PubMed: Briggs 2001 - - Germline ? ExAC 14, 121282, 0, 0.0001154 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A CGC > TGC - ABCA4_000031 - PubMed: Briggs 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely benign g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Lewis 1999 - - Germline ? ExAC 14, 121282, 0, 0.0001154 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely benign g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Lewis 1999 - - Germline ? ExAC 14, 121282, 0, 0.0001154 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline ? ExAC 14, 121282, 0, 0.0001154 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? - France ? - - - - 1 Stéphanie Cornelis
-?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely benign g.94508323G>A g.94042767G>A C3322T, R1107C - ABCA4_000031 - PubMed: Rozet 1998 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Paloma 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Paloma 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A Arg1108Cys - ABCA4_000031 - PubMed: Fishman 1999 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Rivera 2000 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Rivera 2000 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Rivera 2000 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Rivera 2000 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Paternal (confirmed) - likely pathogenic g.94508323G>A g.94042767G>A 3322C→T - ABCA4_000031 - PubMed: Yatsenko 2001 - - Germline yes ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 4 affected M yes United States white - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Paternal (confirmed) - pathogenic g.94508323G>A g.94042767G>A 3322C→T - ABCA4_000031 - PubMed: Yatsenko 2001 - - Germline yes ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Paternal (confirmed) - pathogenic g.94508323G>A g.94042767G>A 3322C→T - ABCA4_000031 - PubMed: Yatsenko 2001 - - Germline yes ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C→T - ABCA4_000031 - PubMed: Yatsenko 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Maternal (confirmed) - pathogenic g.94508323G>A g.94042767G>A 3322C→T - ABCA4_000031 - PubMed: Yatsenko 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Maternal (confirmed) - likely pathogenic g.94508323G>A g.94042767G>A 3322C→T - ABCA4_000031 - PubMed: Yatsenko 2001 - - Germline yes ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Maternal (confirmed) - likely pathogenic g.94508323G>A g.94042767G>A 3322C→T - ABCA4_000031 - PubMed: Yatsenko 2001 - - Germline yes ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Webster 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Webster 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Webster 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Webster 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Webster 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Webster 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - VUS g.94508323G>A g.94042767G>A 1526delG;571–1G>T;R1108C;1526delG - ABCA4_000031 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Shroyer 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
-?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely benign g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Shroyer 2001 - - Germline - ExAC 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 - - ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - VUS g.94508323G>A g.94042767G>A c.[3322C>T; 6320G>A] - ABCA4_000031 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - 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
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Rosenberg 2007 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Hwang 2009 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 2-generation familly, 2 affected M ? Colombia ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Passerini 2010 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Stenirri 2008 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A Arg1108Cys CGC>TGC - ABCA4_000031 - PubMed: Schindler 2010 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A Arg1108Cys CGC>TGC - ABCA4_000031 - PubMed: Schindler 2010 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A Arg1108Cys CGC>TGC - ABCA4_000031 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
-?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely benign g.94508323G>A g.94042767G>A Arg1108Cys CGC>TGC - ABCA4_000031 - PubMed: Schindler 2010 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A Arg1108Cys CGC>TGC - ABCA4_000031 - PubMed: Schindler 2010 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 found no variant 2nd chromosome PubMed: Burke 2010 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Zernant 2011 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Paternal (confirmed) - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Zernant 2011 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 2-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Zernant 2011 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Zernant 2011 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Duno 2012 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T, p.Arg1108Cys - ABCA4_000031 - PubMed: Roberts 2012 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T, p.Arg1108Cys - ABCA4_000031 - PubMed: Roberts 2012 - - Germline - 14, 121282, 0, 0.0001154 - - - 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
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Downes 2012 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A 3322C>T - ABCA4_000031 - PubMed: Downes 2012 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A p.Arg1108Cys - ABCA4_000031 - PubMed: Fujinami 2013 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A p.Arg1108Cys - ABCA4_000031 - PubMed: Fujinami 2013 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 The probably benign p.Arg943Gln variant was also found on this allele. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Both (homozygous) - VUS g.94508323G>A g.94042767G>A c.[3322C>T; 6320G>A] - ABCA4_000031 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - VUS g.94508323G>A g.94042767G>A c.[3322C>T; 6320G>A] - ABCA4_000031 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - VUS g.94508323G>A g.94042767G>A c.[3322C>T; 6320G>A] - ABCA4_000031 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - VUS g.94508323G>A g.94042767G>A c.[3322C>T; 6320G>A] - ABCA4_000031 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - VUS g.94508323G>A g.94042767G>A c.[3322C>T; 6320G>A] - ABCA4_000031 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - VUS g.94508323G>A g.94042767G>A c.[3322C>T; 6320G>A] - ABCA4_000031 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Riveiro-Alvarez 2013 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Fujinami 2013 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Fujinami 2013 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Fujinami 2013 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T, p.Arg1108Cys - ABCA4_000031 - PubMed: Fujinami 2013 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A c.3322C>T, p.Arg1108Cys - ABCA4_000031 - PubMed: Fujinami 2013 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A c.3322C>T,p.Arg1108Cys - ABCA4_000031 - PubMed: Fujinami 2013 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Miraldi 2014 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A c.3322C>T - ABCA4_000031 - PubMed: Miraldi 2014 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A p.R1108C - ABCA4_000031 - PubMed: Burke 2014, PubMed: Duncker 2015 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA PE, SEQ, SEQ-NG-R - APEX ? - PubMed: Burke 2014, PubMed: Duncker 2015 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A p.[R1108C] - ABCA4_000031 - PubMed: Nõupuu 2015 - - Germline ? 14, 121282, 0, 0.0001154 - - - DNA SEQ-NG, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2015 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Cideciyan 2009 - - Germline yes 14, 121282, 0, 0.0001154 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - VUS g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Cideciyan 2009 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Cideciyan 2009 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A R1108C - ABCA4_000031 - PubMed: Cideciyan 2009 - - Germline - 14, 121282, 0, 0.0001154 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(3322c>u) p.(Arg1108Cys) Parent #1 ACMG pathogenic (recessive) g.94508323G>A g.94042767G>A - - ABCA4_000031 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A ABCA4(NM_000350.3):c.3322C>T (p.R1108C) - ABCA4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3322C>T r.(?) p.(Arg1108Cys) Unknown - pathogenic g.94508323G>A g.94042767G>A ABCA4(NM_000350.3):c.3322C>T (p.R1108C) - ABCA4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A - - ABCA4_000031 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M no Israel Russia;Jewish - - - - 1 Dror Sharon
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - likely pathogenic g.94508323G>A g.94042767G>A - - ABCA4_000031 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - pathogenic (recessive) g.94508323G>A g.94042767G>A - - ABCA4_000031 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS19PatII-3 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #2 - pathogenic (recessive) g.94508323G>A g.94042767G>A - - ABCA4_000031 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene STGD FamS6PatIII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #2 - pathogenic (recessive) g.94508323G>A g.94042767G>A - - ABCA4_000031 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene STGD FamS27PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+/. - c.3322C>T r.(?) p.(Arg1108Cys) Unknown ACMG pathogenic g.94508323G>A - - - ABCA4_000031 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.3322C>T r.(?) p.(Arg1108Cys) Unknown ACMG pathogenic g.94508323G>A - - - ABCA4_000031 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.3322C>T r.(?) p.(Arg1108Cys) Unknown ACMG pathogenic g.94508323G>A - - - ABCA4_000031 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Paternal (confirmed) other pathogenic (recessive) g.94508323G>A - - - ABCA4_000031 - - - rs61750120 Germline yes - - - - DNA SEQ-NG peripheral blood gene panel STGD1 F11:Ⅱ:2 - - M no China Asian >13y - yes none 1 Fangyuan Hu
+?/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Unknown ACMG likely pathogenic g.94508323G>A - - - ABCA4_000031 - - - - Unknown ? - - - - DNA SEQ-NG - gene panel CORD3 B4 - - F no China - >27y - yes none 1 Qing Zhu
+/. 22 c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - pathogenic (recessive) g.94508323G>A g.94042767G>A - - ABCA4_000031 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat2 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.3322C>T r.(?) p.(Arg1108Cys) Unknown - likely pathogenic g.94508323G>A g.94042767G>A - - ABCA4_000031 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 764 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.3322C>T r.(?) p.(Arg1108Cys) Parent #1 - likely pathogenic g.94508323G>A g.94042767G>A - - ABCA4_000031 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 761 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
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