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.

208 entries on 3 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     
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Alapati 2014 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Alapati 2014 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
-?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely benign g.94486896G>A g.94021340G>A 4918C>T - ABCA4_000085 - PubMed: Maugeri 1999 - - Germline ? ExAC 1, 121394, 0, 0.000008238 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A C4918T - ABCA4_000085 - PubMed: Papaioannou 2000 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A CGG > TGG - ABCA4_000085 - PubMed: Briggs 2001 - - Germline ? ExAC 1, 121394, 0, 0.000008238 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A CGG > TGG - ABCA4_000085 - PubMed: Briggs 2001 - - Germline ? ExAC 1, 121394, 0, 0.000008238 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Both (homozygous) - likely pathogenic g.94486896G>A g.94021340G>A C4916T - ABCA4_000085 - PubMed: Rozet 1998 - - Germline ? ExAC 1, 121394, 0, 0.000008238 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A C4916T - ABCA4_000085 - PubMed: Rozet 1998 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A 4918C>T - ABCA4_000085 - PubMed: Klevering 2004 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A 4918C>T - ABCA4_000085 - PubMed: Webster 2001 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - 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
+/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Maternal (confirmed) - pathogenic g.94486896G>A g.94021340G>A [W1408R; R1640W] - ABCA4_000085 - PubMed: Webster 2001 - - Germline yes - - - - DNA PCR, SEQ - - STGD1 - PubMed: Shroyer 2001 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A [W1408R; R1640W] - ABCA4_000085 - PubMed: Shroyer 2001 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Shroyer 2001 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A [W1408R; R1640W] - ABCA4_000085 - PubMed: Shroyer 2001 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Shroyer 2001 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A CGG 4918 TGG - ABCA4_000085 - PubMed: Ducroq 2002 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? United Kingdom (Great Britain) England - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A R1640W - ABCA4_000085 - PubMed: Jaakson 2003 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - 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
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A R1640W - ABCA4_000085 - PubMed: Jaakson 2003 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - 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
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A (4918C>T);(4222T>C) - ABCA4_000085 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 - M ? Spain - - - - - 1 Stéphanie Cornelis
+/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - pathogenic g.94486896G>A g.94021340G>A 4918C>T - ABCA4_000085 - PubMed: Valverde 2007, PubMed: Riveiro-Alvarez 2013 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007, PubMed: Riveiro-Alvarez 2013 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Rosenberg 2007 - - Germline - 1, 121394, 0, 0.000008238 - - - 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
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Rosenberg 2007 - - Germline - 1, 121394, 0, 0.000008238 - - - 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
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Zernant 2011 - - Germline - 1, 121394, 0, 0.000008238 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp - ABCA4_000085 - PubMed: Roberts 2012 - - Germline - 1, 121394, 0, 0.000008238 - - - 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
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp - ABCA4_000085 - PubMed: Roberts 2012 - - Germline - 1, 121394, 0, 0.000008238 - - - 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
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A p.Arg1640Trp - ABCA4_000085 - PubMed: Fujinami 2013 - - Germline - 1, 121394, 0, 0.000008238 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A c.[4222T>C; 4918C>T] - ABCA4_000085 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121394, 0, 0.000008238 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121394, 0, 0.000008238 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Riveiro-Alvarez 2013 - - Germline - 1, 121394, 0, 0.000008238 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Both (homozygous) - likely pathogenic g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Fujinami 2013 - - Germline ? 1, 121394, 0, 0.000008238 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - Middle East Asian - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Fujinami 2013 - - Germline ? 1, 121394, 0, 0.000008238 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Fujinami 2013 - - Germline ? 1, 121394, 0, 0.000008238 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp - ABCA4_000085 - PubMed: Fujinami 2013 - - Germline - 1, 121394, 0, 0.000008238 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 - PubMed: Miraldi 2014 - - Germline ? 1, 121394, 0, 0.000008238 - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A c.4222T>C (c.4918C>T) - ABCA4_000085 - PubMed: Miraldi 2014 - - Germline ? - - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A p.R1640W - ABCA4_000085 - PubMed: Burke 2014 - - Germline ? 1, 121394, 0, 0.000008238 - - - 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
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A p.R1640W - ABCA4_000085 - PubMed: Burke 2014 - - Germline ? 1, 121394, 0, 0.000008238 - - - 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
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A p.R1640W - ABCA4_000085 - PubMed: Burke 2014 - - Germline - 1, 121394, 0, 0.000008238 - - - 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
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - VUS g.94486896G>A g.94021340G>A p.R1640W - ABCA4_000085 - PubMed: Burke 2014 - - Germline - 1, 121394, 0, 0.000008238 - - - 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
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A c.4918c>t - ABCA4_000085 - PubMed: Bauwens 2014 - - Germline - 1, 121394, 0, 0.000008238 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A Arg1640Trp - ABCA4_000085 - PubMed: Battu 2015 - - Germline - 1, 121394, 0, 0.000008238 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Battu 2015 2-generation family, 2 affected M ? India ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Paternal (inferred) - likely pathogenic g.94486896G>A g.94021340G>A p.[W1408R;R1640W] - ABCA4_000085 - PubMed: Duncker 2015 - - Germline ? - - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - Hispanic - - - - 1 Stéphanie Cornelis
+/. 35 c.4918C>T r.(4918c>u) p.(Arg1640Trp) Parent #1 ACMG pathogenic (recessive) g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #2 - VUS g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P54 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
+/. - c.4918C>T r.(?) p.(Arg1640Trp) Unknown ACMG pathogenic g.94486896G>A - - - ABCA4_000085 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.4918C>T r.(?) p.(Arg1640Trp) Unknown - pathogenic (recessive) g.94486896G>A - 1:94486896G>A ENST00000370225.3:c.4918C>T (Arg1640Trp) - ABCA4_000085 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240012 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - pathogenic (recessive) g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat19 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - pathogenic g.94486896G>A g.94021340G>A C4918T - ABCA4_000085 - PubMed: Sheremet 2017 - rs61751404 Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat1 PubMed: Sheremet 2017 patient M - Russia - - - - - 1 LOVD
+?/. - c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 776 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 775 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4918C>T r.(?) p.(Arg1640Trp) Parent #2 - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 872 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4918C>T r.(?) p.(Arg1640Trp) Parent #2 - likely pathogenic g.94486896G>A g.94021340G>A - - ABCA4_000085 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 713 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown ACMG pathogenic g.94486896G>A - - - ABCA4_000085 - Mena et al., 2020 submitted - rs61751404 Germline yes - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F no Argentina - - - - - 2 Marcela Mena
+/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown ACMG pathogenic g.94486896G>A - - - ABCA4_000085 - Mena et al., 2020 submitted - rs61751404 Germline yes - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F no Argentina - - - - - 1 Marcela Mena
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A p.Arg1640Trp - ABCA4_000085 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 19 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A Arg1640Trp - ABCA4_000085 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 90 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Paternal (confirmed) - likely pathogenic (recessive) g.94486896G>A g.94021340G>A Het R1640W - ABCA4_000085 no segregation analysis done PubMed: Roberts 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease RPS593 PubMed: Roberts 2009 - F ? South Africa - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A R1640W - ABCA4_000085 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 23 PubMed: Burke 2011 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A R1640W - ABCA4_000085 no variant 2nd chromosome PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 25 PubMed: Burke 2011 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A p.R1640W - ABCA4_000085 no variant 2nd chromosome PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P13 PubMed: Duncker 2013 - F no United States black - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A p.R1640W - ABCA4_000085 no variant 2nd chromosome PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P20 PubMed: Lee 2014 possibly reported before by Zernant and/or Burke - ? United States African American - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.(R1640W) - ABCA4_000085 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 495 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T (p.Arg1640Trp) - ABCA4_000085 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3051 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T (p.Arg1640Trp) - ABCA4_000085 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3429 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T (p.Arg1640Trp) - ABCA4_000085 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3487 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T Arg1640Trp CGG>TGG - ABCA4_000085 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 775 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T Arg1640Trp CGG>TGG - ABCA4_000085 no variant 2nd chromosome PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 776 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T (p.Arg1640Trp) - ABCA4_000085 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 16 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.Arg1640Trp - ABCA4_000085 no variant 2nd chromosome PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease E5 PubMed: Smaragda 2018 - F ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C.T;c.4222T.C p.Arg1640Trp;p.Trp1408Arg - ABCA4_000085 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P1 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C.T;c.4222T.C p.Arg1640Trp;p.Trp1408Arg - ABCA4_000085 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P33 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #1 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.[4918C>T;5693G>A] p.[Arg1640Trp;Arg1898His] - ABCA4_000085 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66759 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 869 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T - ABCA4_000085 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 870 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918c>t; - ABCA4_000085 - PubMed: Zanolli 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 1077 PubMed: Zanolli 2020 - - ? Chile - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A het c.4918C>T p.Arg1640Trp - ABCA4_000085 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 85 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.(Arg1640Trp) - ABCA4_000085 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1025 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.(Arg1640Trp) - ABCA4_000085 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1246 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.(Arg1640Trp) - ABCA4_000085 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1255 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A ENST00000370225.3:c.4918C>T p.Arg1640Trp 0/1 - ABCA4_000085 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease B240012 PubMed: Carss 2017 - M ? England - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.(Arg1640Trp) - ABCA4_000085 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Jespersgaard 2019 The variant CNGB3 c.1148del p.(Thr383Ilefs*13) was found as well. - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.(Arg1640Trp) - ABCA4_000085 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 313 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.Arg1640Trp het - ABCA4_000085 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-190-006 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.Arg1640Trp het - ABCA4_000085 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-224-007 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T p.Arg1640Trp het - ABCA4_000085 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-272-099 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp Heterozygous - ABCA4_000085 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 121394, 0, 0.000008238 - - - DNA SEQ - - retinal disease 1320-1889 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp heterozygous - ABCA4_000085 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 121394, 0, 0.000008238 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 171-880 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp Heterozygous - ABCA4_000085 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 121394, 0, 0.000008238 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2192-2847 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp heterozygous - ABCA4_000085 - PubMed: Goetz 2020 - - Unknown - 1, 121394, 0, 0.000008238 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 24-673 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp Heterozygous - ABCA4_000085 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 121394, 0, 0.000008238 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2706-4279 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp Heterozygous - ABCA4_000085 - PubMed: Goetz 2020 - - Unknown - 1, 121394, 0, 0.000008238 - - - DNA SEQ - - retinal disease 2806-4380 PubMed: Goetz 2020 2806 is a family member of 2805 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp Heterozygous - ABCA4_000085 - PubMed: Goetz 2020 - - Unknown - 1, 121394, 0, 0.000008238 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4491-5436 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c.4918C>T, p.Arg1640Trp Heterozygous - ABCA4_000085 - PubMed: Goetz 2020 - - Unknown - 1, 121394, 0, 0.000008238 - - - DNA SEQ - - retinal disease 6376-443 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Unknown - likely pathogenic (recessive) g.94486896G>A g.94021340G>A c. 4918 C>T - ABCA4_000085 - PubMed: Cukras 2012 - - Unknown - - - - - DNA SEQ - - retinal disease 2 PubMed: Cukras 2012 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #2 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A p.R1640W - ABCA4_000085 - PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P13 PubMed: Lee 2014 sibling was likely reported by Burke et al., 2014 too - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #2 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A p.[W1408R;R1640W] - ABCA4_000085 - PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P19 PubMed: Lee 2014 possibly reported before by Zernant and/or Burke - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 35 c.4918C>T r.(?) p.(Arg1640Trp) Parent #2 - likely pathogenic (recessive) g.94486896G>A g.94021340G>A p.[His1406Tyr];[Trp1408Arg;Arg1640Trp] - ABCA4_000085 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 14 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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