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.

284 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

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Owner     
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #2 - pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Braun 2013 - - Unknown yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents M no United States - - - - - 1 Johan den Dunnen
+?/+? 6 c.634C>T r.(?) p.(Arg212Cys) Parent #1 - likely pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-R - - STGD - PubMed: Sciezyiska 2015 - - - Poland - - - - - 1 Monika Oldak
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Alapati 2014 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A C > T transition at nucleotide 634 - ABCA4_000036 - PubMed: Gerber 1998 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA PCR, SEQ - - STGD1 - PubMed: Gerber 1997 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A C634T - ABCA4_000036 - PubMed: Rozet 1998 - - Germline ? ExAC 14, 120056, 0, 0.0001166 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A C634T - ABCA4_000036 - PubMed: Rozet 1998 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A C634T - ABCA4_000036 - PubMed: Rozet 1998 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A C634T - ABCA4_000036 - PubMed: Rozet 1998 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A C634T - ABCA4_000036 - PubMed: Rozet 1998 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Both (homozygous) - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Simonelli 2000, PubMed: Testa 2012 - - Germline yes ExAC 14, 120056, 0, 0.0001166 - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 PubMed: Testa 2012 5-generation family, 2 affected, published in PubMed: Simonelli 2005 as well M yes Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Both (homozygous) - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Simonelli 2000 - - Germline yes ExAC 14, 120056, 0, 0.0001166 - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 5-generation family, 2 affected, published in PubMed: Simonelli 2005 as well F yes Italy Italian, south - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Paloma 2001 - - Germline ? ExAC 14, 120056, 0, 0.0001166 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Paloma 2001 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Rivera 2000 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A 634C > T - ABCA4_000036 - PubMed: Webster 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - 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
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A 634C > T - ABCA4_000036 - PubMed: Webster 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - 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
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A 634C > T - ABCA4_000036 - PubMed: Webster 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - 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
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A 634C > T - ABCA4_000036 - PubMed: Webster 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - 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
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A 634C > T - ABCA4_000036 - PubMed: Webster 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - 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
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A 634C > T - ABCA4_000036 - PubMed: Webster 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - 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
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A 634C > T - ABCA4_000036 - PubMed: Webster 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - 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
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Maternal (confirmed) - likely pathogenic g.94564484G>A g.94098928G>A R212C ; L541P; A1038 V - ABCA4_000036 - PubMed: Fumagalli 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Shroyer 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 - - ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Shroyer 2001 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 - - ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A 634C>T - ABCA4_000036 - PubMed: Klevering 2002 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
-?/. 6 c.634C>T r.(?) p.(Arg212Cys) Paternal (confirmed) - likely benign g.94564484G>A g.94098928G>A [c.634C>T] - ABCA4_000036 - PubMed: Özgül 2004 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Özgül 2004 - ? ? Turkey ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 14, 120056, 0, 0.0001166 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Maternal (confirmed) - pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Stenirri 2006 - - De novo - ExAC 14, 120056, 0, 0.0001166 - - - DNA DHPLC, SEQ - - CORD - PubMed: Stenirri 2006 - M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Rosenberg 2007 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Rosenberg 2007 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Passerini 2010 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Passerini 2010 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Passerini 2010 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Passerini 2010 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Stenirri 2008 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A Arg212Cys CGC>CGT - ABCA4_000036 - PubMed: Schindler 2010 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A R212C - ABCA4_000036 found no variant 2nd chromosome PubMed: Burke 2010 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A Arg212Cys - ABCA4_000036 - PubMed: Chen 2011 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Zernant 2011 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Zernant 2011 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Zernant 2011 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Both (homozygous) - likely pathogenic g.94564484G>A g.94098928G>A 634C>T - ABCA4_000036 - PubMed: Westeneng-van Haaften 2012 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A 634C>T - ABCA4_000036 - PubMed: Downes 2012 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Chacón-Camacho 2013 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Riveiro-Alvarez 2013 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Riveiro-Alvarez 2013 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Both (homozygous) - likely pathogenic g.94564484G>A g.94098928G>A c.634C>TC2C2256:C2316 - ABCA4_000036 - PubMed: Fujinami 2013 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - South Asian - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Both (homozygous) - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Fujinami 2013 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - F yes - South Asian - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T, p.Arg212Cys - ABCA4_000036 - PubMed: Fujinami 2013 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Miraldi 2014 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A p.R212C - ABCA4_000036 - PubMed: Burke 2014 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - F ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A p.[(R212C)] - ABCA4_000036 - PubMed: Nõupuu 2014 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634 C>T - ABCA4_000036 - PubMed: Zaneveld 2015 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? Canada Canadian - - - - 1 Stéphanie Cornelis
?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A p.R212C - ABCA4_000036 - PubMed: Duncker 2015 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA PE, SEQ, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - F ? - White - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Xin 2015 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 - M ? China ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A p.R212C - ABCA4_000036 - PubMed: Sciezynska 2015 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A p.R212C - ABCA4_000036 - PubMed: Sciezynska 2015 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A p.R212C - ABCA4_000036 - PubMed: Sciezynska 2015 - - Germline - 14, 120056, 0, 0.0001166 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A p.R212C - ABCA4_000036 - PubMed: Duncker 2015 - - Germline ? 14, 120056, 0, 0.0001166 - - - DNA PE - APEX ? - PubMed: Duncker 2015 ? F ? - white - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(634c>u) p.(Arg212Cys) Parent #1 ACMG pathogenic (recessive) g.94564484G>A g.94098928G>A - - ABCA4_000036 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; multiple other variant changes at the same position are enriched in >3000 likely Caucasian STGD1 patients, supporting pathogenicity according to ACMG guidelines PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 13 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - {CV:RCV000179293.1}, {CV:RCV000008355.4} - rs61750200 Germline - - - - - DNA SEQ-NG - - STGD - - - ? no - - - - - - 1 Lonneke Haer-Wigman
+/. - c.634C>T r.(?) p.(Arg212Cys) Parent #2 - pathogenic (recessive) g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA arraySNP - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian/Italian - - - - 29 Jana Zernant
+/. - c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A ABCA4(NM_000350.3):c.634C>T (p.R212C) - ABCA4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A ABCA4(NM_000350.3):c.634C>T (p.R212C) - ABCA4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Both (homozygous) - pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - F no Israel Druze - - - - 1 Dror Sharon
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - F no Israel Yemenite;Jewish - - - - 1 Dror Sharon
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - likely pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - - - - Germline - - - - - DNA SEQ - - STGD1 - - - - - - - - - - - 3 Darren O'Rielly
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #1 - likely pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #2 - likely pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #2 - pathogenic (recessive) g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene STGD FamS29PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+?/. - c.634C>T r.(?) p.(Arg212Cys) Parent #1 - likely pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61750200 Germline - 2/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.634C>T r.(?) p.(Arg212Cys) Parent #1 - likely pathogenic (recessive) g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.634C>T r.(?) p.(Arg212Cys) Unknown ACMG pathogenic g.94564484G>A - - - ABCA4_000036 - PubMed: Sharon 2019 - - Germline - 7/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 7 IRD families - - Israel - - - - - 7 Global Variome, with Curator vacancy
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #1 - pathogenic (recessive) g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat58 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown ACMG pathogenic g.94564484G>A - - - ABCA4_000036 - Mena et al., 2020 submitted. - rs61750200 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no (Argentina) - - - - - 1 Marcela Mena
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A C634T - ABCA4_000036 - PubMed: Sheremet 2017 - rs61750200 Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat9 PubMed: Sheremet 2017 patient M - Russia - - - - - 1 LOVD
+?/. - c.634C>T r.(?) p.(Arg212Cys) Parent #2 - likely pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 789 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.634C>T r.(?) p.(Arg212Cys) Both (homozygous) - likely pathogenic g.94564484G>A g.94098928G>A 5882G>A/634C>T - ABCA4_000036 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 715 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown ACMG pathogenic g.94564484G>A - - - ABCA4_000036 - Mena et al., 2020 submitted - rs61750200 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown ACMG pathogenic g.94564484G>A - - - ABCA4_000036 - Mena et al., 2020 submitted - rs61750200 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+/. - c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 889 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #2 - pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD042 PubMed: Bernardis 2016 familial case - - Italy - - - - - 1 LOVD
?/. - c.634C>T r.(?) p.(Arg212Cys) Unknown - VUS g.94564484G>A g.94098928G>A - - ABCA4_000036 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat9 PubMed: Tsipi 2016 see paper M - Greece - - - - - 1 LOVD
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A p.Arg212Cys - ABCA4_000036 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 58 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Maternal (confirmed) - pathogenic (recessive) g.94564484G>A g.94098928G>A Arg212Cys - ABCA4_000036 - PubMed: Souied 1999 - - Unknown yes - - - - DNA SSCA, SEQ - - retinal disease III.1, fam 1 PubMed: Souied 1999 - M no France - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Maternal (confirmed) - pathogenic (recessive) g.94564484G>A g.94098928G>A Arg212Cys - ABCA4_000036 - PubMed: Souied 1999 - - Unknown yes - - - - DNA SSCA, SEQ - - retinal disease III.3, fam 2 PubMed: Souied 1999 - - no France - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 45 PubMed: Scholl 2001 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A Arg212Cys - ABCA4_000036 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 95 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A Arg212Cys - ABCA4_000036 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 96 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A Arg212Cys - ABCA4_000036 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 97 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A c.634C>T (p.Arg212Cys), - ABCA4_000036 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2644 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #1 - pathogenic (recessive) g.94564484G>A g.94098928G>A R212C - ABCA4_000036 - PubMed: Cideciyan 2012 - - Unknown yes - - - - DNA ? - - retinal disease P4 PubMed: Cideciyan 2012 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A c.634C>T (p.Arg212Cys); - ABCA4_000036 - PubMed: Verdina 2012 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease NF PubMed: Verdina 2012 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #1 - pathogenic (recessive) g.94564484G>A g.94098928G>A p.[Arg212Cys];c.[5461-10T>C] - ABCA4_000036 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 7 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A p.R212C - ABCA4_000036 no variant 2nd chromosome PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 14 PubMed: Duncker 2014 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Bernstein 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1 PubMed: Bernstein 2016 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Parent #1 - pathogenic (recessive) g.94564484G>A g.94098928G>A c.634C>T - ABCA4_000036 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 11 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A c.634C>T (p.Arg212Cys) - ABCA4_000036 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 8 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.634C>T r.(?) p.(Arg212Cys) Unknown - pathogenic (recessive) g.94564484G>A g.94098928G>A c.634C>T (p.Arg212Cys) - ABCA4_000036 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 22 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
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