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.

667 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T - - ABCA4_000996 - PubMed: Alapati 2014 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Maugeri 1999 - - Germline ? ExAC 42, 120772, 0, 0.0003478 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Parent #1 - VUS g.94476351C>T g.94010795C>T 2714+5G>A,2884delC - ABCA4_000996 - PubMed: Lewis 1999 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 - ? ? United States white - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected F yes - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected F yes - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected M yes - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected F yes - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected F yes - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Cremers 1998 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Cremers 1998 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Klevering 2004 - - Germline ? ExAC 42, 120772, 0, 0.0003478 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl? p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Rivera 2000 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.[=,?] Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - F ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - M ? Germany white - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Rivera 2000 - - Germline ? ExAC 42, 120772, 0, 0.0003478 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.[=,?] Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Rivera 2000 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.[=,?] Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Rivera 2000 - - Germline yes ExAC 42, 120772, 0, 0.0003478 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.[=,?] Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Rivera 2000 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T 5714 + 5g>a - ABCA4_000996 - PubMed: Webster 2001 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - 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
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T A1598D; 5714+5G>A - ABCA4_000996 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.[=,?] Unknown - VUS g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Fumagalli 2001 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Paternal (confirmed) - likely pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Fumagalli 2001 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Shroyer 2001 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Shroyer 2001 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T Donor splice, fbp3'g-a intron 40 - ABCA4_000996 - PubMed: Fishman 2003 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - F ? - white - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T Donor splice, fbp3'g-a intron 40 - ABCA4_000996 - PubMed: Fishman 2003 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - F ? - white - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T Donor splice, fbp3'g-a intron 40 - ABCA4_000996 - PubMed: Fishman 2003 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - M ? - white - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5G>A Splice - ABCA4_000996 - PubMed: Jaakson 2003 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5G>A Splice - ABCA4_000996 - PubMed: Jaakson 2003 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Stenirri 2004 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Stenirri 2004 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Stenirri 2004 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G→A - ABCA4_000996 - PubMed: Simonelli 2005 - - Germline ? ExAC 42, 120772, 0, 0.0003478 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Klevering 2005 - F ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5gA - ABCA4_000996 - PubMed: Simonelli 2005, PubMed: Testa 2012 - - Germline ? ExAC 42, 120772, 0, 0.0003478 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5gA - ABCA4_000996 - PubMed: Simonelli 2005 - - Germline ? ExAC 42, 120772, 0, 0.0003478 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 2 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Kitiratschky 2008 - - Germline - ExAC 42, 120772, 0, 0.0003478 - - - DNA PCR, PE, SEQ - APEX COD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Rosenberg 2007 - - Germline - 42, 120772, 0, 0.0003478 - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Rosenberg 2007 - - Germline - 42, 120772, 0, 0.0003478 - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A c.5653G>A - ABCA4_000996 - PubMed: Rosenberg 2007 - - Germline - - - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A c.5653G>A - ABCA4_000996 - PubMed: Rosenberg 2007 - - Germline - - - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A c.5653G>A - ABCA4_000996 - PubMed: Rosenberg 2007 - - Germline - - - - - 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
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Hwang 2009 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 - M ? Colombia ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Hwang 2009 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 2-generation familly, 2 affected M ? Colombia ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Passerini 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Passerini 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40>5g4a - ABCA4_000996 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Passerini 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Stenirri 2008 - - Germline - 42, 120772, 0, 0.0003478 - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Stenirri 2008 - - Germline - 42, 120772, 0, 0.0003478 - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Stenirri 2008 - - Germline - 42, 120772, 0, 0.0003478 - - - 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
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.IVS+5G>A - ABCA4_000996 - PubMed: Maia-Lopes 2009 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5715+5G>A - ABCA4_000996 - PubMed: Ernest 2009 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5715+5G>A - ABCA4_000996 - PubMed: Ernest 2009 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - CORD - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - CORD - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5 G>A - ABCA4_000996 - PubMed: Schindler 2010 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Burke 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Burke 2010 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Zernant 2011 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Zernant 2011 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A, - - ABCA4_000996 - PubMed: Roberts 2012 - - Germline - 42, 120772, 0, 0.0003478 - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A, - - ABCA4_000996 - PubMed: Roberts 2012 - - Germline - 42, 120772, 0, 0.0003478 - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Maia-Lopes 2008 - - Germline - 42, 120772, 0, 0.0003478 - - - 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
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Testa 2012 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Testa 2012 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Testa 2012 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Testa 2012 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5g>a - ABCA4_000996 - PubMed: Testa 2012 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T IVS40+5G>A - ABCA4_000996 - PubMed: Oldani 2012 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Downes 2012 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Downes 2012 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T 5714+5G>A - ABCA4_000996 - PubMed: Downes 2012 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Fujinami 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX retinal disease - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Riveiro-Alvarez 2013 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Ritter 2013 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Ritter 2013 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Unknown - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Ritter 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PCR, SEQ - - STGD1 - PubMed: Ritter 2013 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A, Splice site - ABCA4_000996 - PubMed: Fujinami 2013 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5A>G - ABCA4_000996 - PubMed: Bauwens 2014 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Bauwens 2014 - - Germline - 42, 120772, 0, 0.0003478 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Bauwens 2014 Simplex ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 40i c.5714+5G>A r.spl p.? Unknown - VUS g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Lambertus 2015 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 40i c.5714+5G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Kjellström 2015 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA PE - APEX STGD1 - PubMed: Kjellström 2015 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 40i c.5714+5G>A r.spl p.? Unknown - pathogenic g.94476351C>T g.94010795C>T c.5714+5G>A - ABCA4_000996 - PubMed: Sciezynska 2015 - - Germline ? 42, 120772, 0, 0.0003478 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
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