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.

155 entries on 2 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     

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Age at death     

VIP     

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Owner     
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - likely pathogenic g.94577135C>T g.94111579C>T 2 c.156T>G p.His52Gln Heterozygous - ABCA4_000240 - PubMed: Alapati 2014 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Both (homozygous) - pathogenic g.94577135C>T g.94111579C>T c.161G>A - ABCA4_000240 - PubMed: Zhao 2015 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Zhao 2015 Simplex ? ? Northern Ireland ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - likely pathogenic g.94577135C>T g.94111579C>T c.161G>A - ABCA4_000240 - PubMed: Zhao 2015 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Zhao 2015 - ? ? Northern Ireland ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Maternal (confirmed) - pathogenic g.94577135C>T g.94111579C>T G161A - ABCA4_000240 - PubMed: Papaioannou 2000 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Maternal (confirmed) - pathogenic g.94577135C>T g.94111579C>T G161A - ABCA4_000240 - PubMed: Papaioannou 2000 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Maternal (confirmed) - pathogenic g.94577135C>T g.94111579C>T G161A - ABCA4_000240 - PubMed: Papaioannou 2000 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Paternal (confirmed) - pathogenic g.94577135C>T g.94111579C>T TGC > TAC - ABCA4_000240 - PubMed: Briggs 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - likely pathogenic g.94577135C>T g.94111579C>T TGC > TAC - ABCA4_000240 - PubMed: Briggs 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - likely pathogenic g.94577135C>T g.94111579C>T TGC > TAC - ABCA4_000240 - PubMed: Briggs 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T G-to-A transition of nucleotide 161 - ABCA4_000240 - PubMed: Zhang 1999 - - Germline yes ExAC 2, 121210, 0, 0.0000165 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T G-to-A transition of nucleotide 161 - ABCA4_000240 - PubMed: Zhang 1999 - - Germline yes ExAC 2, 121210, 0, 0.0000165 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T G-to-A transition of nucleotide 161 - ABCA4_000240 - PubMed: Zhang 1999 - - Germline yes ExAC 2, 121210, 0, 0.0000165 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T G-to-A transition of nucleotide 161 - ABCA4_000240 - PubMed: Zhang 1999 - - Germline yes ExAC 2, 121210, 0, 0.0000165 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T 161G > A - ABCA4_000240 - PubMed: Webster 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T 161G > A - ABCA4_000240 - PubMed: Webster 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T 161G > A - ABCA4_000240 - PubMed: Webster 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T 161G > A - ABCA4_000240 - PubMed: Webster 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T 161G > A - ABCA4_000240 - PubMed: Webster 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T 161G > A - ABCA4_000240 - PubMed: Webster 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Both (homozygous) - pathogenic g.94577135C>T g.94111579C>T G161A - ABCA4_000240 - PubMed: Birch 2001 - - Germline yes ExAC 2, 121210, 0, 0.0000165 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 7-generation family, 2 affected F yes - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Both (homozygous) - pathogenic g.94577135C>T g.94111579C>T G161A - ABCA4_000240 - PubMed: Birch 2001 - - Germline yes ExAC 2, 121210, 0, 0.0000165 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 7-generation family, 2 affected M yes - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T G161A - ABCA4_000240 - PubMed: Birch 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr) Maternal (confirmed) - likely pathogenic g.94577135C>T g.94111579C>T 161G>A - ABCA4_000240 - PubMed: Shroyer 2001 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Jaakson 2003 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Jaakson 2003 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr) Unknown - pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Jaakson 2003 - - Germline - ExAC 2, 121210, 0, 0.0000165 - - - 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
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - likely pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Cella 2009 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Cella 2009 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Burke 2010, PubMed: Duncker 2015 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010, PubMed: Duncker 2015 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T c.161G>A - ABCA4_000240 - PubMed: Zernant 2011 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T c.161G>A - ABCA4_000240 - PubMed: Zernant 2011 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T c.161G>A - ABCA4_000240 - PubMed: Zernant 2011 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr - ABCA4_000240 - PubMed: Roberts 2012 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr - ABCA4_000240 - PubMed: Roberts 2012 - - Germline - 2, 121210, 0, 0.0000165 - - - 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
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T 161G>A - ABCA4_000240 - PubMed: Downes 2012 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T 161G>A - ABCA4_000240 - PubMed: Downes 2012 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - likely pathogenic g.94577135C>T g.94111579C>T 161G>A - ABCA4_000240 - PubMed: Downes 2012 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T p.Cys54Tyr - ABCA4_000240 - PubMed: Fujinami 2013 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T p.Cys54Tyr - ABCA4_000240 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T p.Cys54Tyr - ABCA4_000240 - PubMed: Fujinami 2013 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - likely pathogenic g.94577135C>T g.94111579C>T c.161G>A - ABCA4_000240 - PubMed: Fujinami 2013 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr - ABCA4_000240 - PubMed: Fujinami 2013 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr - ABCA4_000240 - PubMed: Fujinami 2013 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T p.C54Y - ABCA4_000240 - PubMed: Burke 2014 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - M ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
?/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Paternal (confirmed) - VUS g.94577135C>T g.94111579C>T p.C54Y - ABCA4_000240 - PubMed: Lee 2015 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA SEQ-NG-I, PCR, SEQ, arrayCGH - - STGD1 - PubMed: Lee 2015 2-generation family, 5 affected M ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Maternal (confirmed) - pathogenic g.94577135C>T g.94111579C>T p.C54Y - ABCA4_000240 - PubMed: Duncker 2015 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T p.C54Y - ABCA4_000240 - PubMed: Duncker 2015 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - white - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Cideciyan 2009 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - likely pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Cideciyan 2009 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Cideciyan 2009 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.(?) p.(Cys54Tyr, ?) Unknown - likely pathogenic g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Cideciyan 2009 - - Germline - 2, 121210, 0, 0.0000165 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54SerfsTer14,Cys54Tyr] Parent #1 ACMG pathogenic (recessive) g.94577135C>T g.94111579C>T - - ABCA4_000240 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.161G>A r.spl? p.(Cys54Tyr) Parent #1 - likely pathogenic g.94577135C>T g.94111579C>T - - ABCA4_000240 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. ? c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - NA g.94577135C>T g.94111579C>T - - ABCA4_000240 Midigene splicing assay shows 56% expression of deletion and 44% expression of missense variant. PubMed: Fadaie et al 2019; Journal: Fadaie et al 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.161G>A r.(?) p.(Cys54Tyr) Parent #1 - likely pathogenic (recessive) g.94577135C>T g.94111579C>T - - ABCA4_000240 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.161G>A r.(?) p.(Cys54Tyr) Parent #2 - likely pathogenic g.94577135C>T g.94111579C>T - - ABCA4_000240 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 761 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.161G>A r.(?) p.(Cys54Tyr) Parent #2 - likely pathogenic g.94577135C>T g.94111579C>T - - ABCA4_000240 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 807 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.161G>A r.(?) p.(Cys54Tyr) Unknown - likely pathogenic g.94577135C>T g.94111579C>T - - ABCA4_000240 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12004145 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Parent #1 - pathogenic (recessive) g.94577135C>T - - - ABCA4_000240 - PubMed: Fadaie 2021 - - Germline yes - - - - DNA SEQ-NG - - retinal disease Pat27 PubMed: Fadaie 2021 - - - Ireland - - - - - 1 Zeinab Fadaie
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 - PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 12 PubMed: Aleman 2007 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T C54Y - ABCA4_000240 no variant 2nd chromosome PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 24 PubMed: Burke 2011 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T p.C54Y - ABCA4_000240 no variant 2nd chromosome PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P4 PubMed: Duncker 2013 - F no United States white - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.(C54Y) - ABCA4_000240 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 380 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Parent #1 - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 5225 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Parent #1 - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3513 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9004 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Parent #1 - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3430 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Parent #1 - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3827 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Parent #1 - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3782 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3066 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Parent #1 - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3100 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3527 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3363 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A (p.Cys54Tyr) - ABCA4_000240 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr - ABCA4_000240 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12046 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr - ABCA4_000240 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14042 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.(C54Y) - ABCA4_000240 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9 PubMed: Lee 2018 - M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.[Cys54Tyr,?] - ABCA4_000240 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66715 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A - ABCA4_000240 - PubMed: Fadaie 2019 - - Unknown - - - - - DNA MIPsm, SEQ - - retinal disease A-1 PubMed: Fadaie 2019 sibling of A-2 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A - ABCA4_000240 - PubMed: Fadaie 2019 - - Unknown - - - - - DNA MIPsm, SEQ - - retinal disease A-2 PubMed: Fadaie 2019 sibling of A-1 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161 G>A - ABCA4_000240 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 652 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161 G>A - ABCA4_000240 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 653 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.Cys54Tyr - ABCA4_000240 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1113 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161C>T p.(Cys54Tyr) - ABCA4_000240 - PubMed: Wang 2019 - - Unknown - - - - - DNA SEQ-NG-I - OTSP retinal disease #13456 PubMed: Wang 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A/p.C54Y - ABCA4_000240 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 453 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.Cys54Tyr - ABCA4_000240 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0317 PubMed: Georgiou 2019 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T p.C54Y - ABCA4_000240 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 12 PubMed: Chen 2019 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Paternal (confirmed) - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G > A, (p.Cys54Tyr) [P] - ABCA4_000240 - PubMed: Ibanez 2020 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease Patient 9 PubMed: Ibanez 2020 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.Cys54Tyr het - ABCA4_000240 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-083-084 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.Cys54Tyr het - ABCA4_000240 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-083-146 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.Cys54Tyr het - ABCA4_000240 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-346-116 Prevention Genetics - - ? - Ireland;Switzerland;Germany - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A p.Cys54Tyr Het - ABCA4_000240 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-205-262 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr Heterozygous - ABCA4_000240 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 121210, 0, 0.0000165 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1177-2615 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr Heterozygous - ABCA4_000240 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 121210, 0, 0.0000165 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1178-2615 PubMed: Goetz 2020 1178 is a family member of 1177 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr Heterozygous - ABCA4_000240 - PubMed: Goetz 2020 - - Unknown - 2, 121210, 0, 0.0000165 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1226-2660 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr heterozygous - ABCA4_000240 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 121210, 0, 0.0000165 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 1435-2003 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr Heterozygous - ABCA4_000240 - PubMed: Goetz 2020 - - Unknown - 2, 121210, 0, 0.0000165 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1937-3428 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr Heterozygous - ABCA4_000240 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 121210, 0, 0.0000165 - - - DNA SEQ - - retinal disease 195-1574 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr Heterozygous - ABCA4_000240 - PubMed: Goetz 2020 - - Unknown - 2, 121210, 0, 0.0000165 - - - DNA SEQ - - retinal disease 1955-3476 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.161G>A r.[161_302del,161g>a] p.[Cys54Serfs*14,Cys54Tyr] Unknown - likely pathogenic (recessive) g.94577135C>T g.94111579C>T c.161G>A, p.Cys54Tyr Heterozygous - ABCA4_000240 - PubMed: Goetz 2020 - - Unknown - 2, 121210, 0, 0.0000165 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2803-4408 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
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