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.

363 entries on 4 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     
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - CORD3 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - CORD3 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Both (homozygous) - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T CGC > CAC - ABCA4_000093 - PubMed: Briggs 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely pathogenic g.94466624C>T g.94001068C>T G6320A - ABCA4_000093 - PubMed: Rozet 1998 - - Germline ? ExAC 227, 121250, 3, 0.001872 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Both (homozygous) - likely pathogenic g.94466624C>T g.94001068C>T [R152Q (5); R2107H (46)] - ABCA4_000093 - PubMed: Paloma 2001 - - Germline ? - - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely pathogenic g.94466624C>T g.94001068C>T Arg2107His - ABCA4_000093 - PubMed: Fishman 1999 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
-?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely benign g.94466624C>T g.94001068C>T Arg2107His - ABCA4_000093 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely pathogenic g.94466624C>T g.94001068C>T Arg2107His - ABCA4_000093 - PubMed: Fishman 1999 - - Germline ? ExAC 227, 121250, 3, 0.001872 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Webster 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - 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
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Paternal (confirmed) - pathogenic g.94466624C>T g.94001068C>T 6320G>A - ABCA4_000093 - PubMed: Shroyer 2001 - - Germline yes ExAC 227, 121250, 3, 0.001872 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely pathogenic g.94466624C>T g.94001068C>T R2107H - ABCA4_000093 - PubMed: Shroyer 2001 - - Germline - ExAC 227, 121250, 3, 0.001872 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 - - ? - ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - likely pathogenic g.94466624C>T g.94001068C>T c.[3322C>T; 6320G>A] - ABCA4_000093 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 455G>A and 6320G>A were also identified in this patient M ? Spain - - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Rosenberg 2007 - - Germline - 227, 121250, 3, 0.001872 - - - 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
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Zernant 2011 - - Germline - 227, 121250, 3, 0.001872 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T c.6320G>A, p.Arg2107His - ABCA4_000093 - PubMed: Roberts 2012 - - Germline - 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T c.6320G>A, p.Arg2107His - ABCA4_000093 - PubMed: Roberts 2012 - - Germline - 227, 121250, 3, 0.001872 - - - 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
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T p.Arg2107His - ABCA4_000093 - PubMed: Fujinami 2013 - - Germline - 227, 121250, 3, 0.001872 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T p.Arg2107His - ABCA4_000093 - PubMed: Fujinami 2013 - - Germline - 227, 121250, 3, 0.001872 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Both (homozygous) - likely pathogenic g.94466624C>T g.94001068C>T c.[3322C>T; 6320G>A] - ABCA4_000093 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - likely pathogenic g.94466624C>T g.94001068C>T c.[3322C>T; 6320G>A] - ABCA4_000093 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - likely pathogenic g.94466624C>T g.94001068C>T c.[3322C>T; 6320G>A] - ABCA4_000093 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - likely pathogenic g.94466624C>T g.94001068C>T c.[3322C>T; 6320G>A] - ABCA4_000093 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - pathogenic g.94466624C>T g.94001068C>T c.[3322C>T; 6320G>A] - ABCA4_000093 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - likely pathogenic g.94466624C>T g.94001068C>T c.[3322C>T; 6320G>A] - ABCA4_000093 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Riveiro-Alvarez 2013 - - Germline - 227, 121250, 3, 0.001872 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Ritter 2013 - - Germline ? 227, 121250, 3, 0.001872 - - - DNA PCR, SEQ - - STGD1 - PubMed: Ritter 2013 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Fujinami 2013 - - Germline ? 227, 121250, 3, 0.001872 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely pathogenic g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Fujinami 2013 - - Germline - 227, 121250, 3, 0.001872 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Fujinami 2013 - - Germline - 227, 121250, 3, 0.001872 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely pathogenic g.94466624C>T g.94001068C>T c.6320G>A, p.Arg2107His - ABCA4_000093 - PubMed: Fujinami 2013 - - Germline ? 227, 121250, 3, 0.001872 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Miraldi 2014 - - Germline ? 227, 121250, 3, 0.001872 - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Lambertus 2015 - - Germline ? 227, 121250, 3, 0.001872 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T p.[R2107H] - ABCA4_000093 - PubMed: Nõupuu 2015 - - Germline - 227, 121250, 3, 0.001872 - - - DNA SEQ-NG, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2015 - M ? - African-American - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - likely pathogenic g.94466624C>T g.94001068C>T p.[R2107H] - ABCA4_000093 - PubMed: Nõupuu 2015, PubMed: Duncker 2015 - - Germline - 227, 121250, 3, 0.001872 - - - DNA SEQ-NG, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2015, PubMed: Duncker 2015 - F ? - African-American - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Paternal (inferred) - likely pathogenic g.94466624C>T g.94001068C>T p.R2107H - ABCA4_000093 - PubMed: Duncker 2015 - - Germline ? 227, 121250, 3, 0.001872 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - Black - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic g.94466624C>T g.94001068C>T p.R2107H - ABCA4_000093 - PubMed: Duncker 2015 - - Germline ? 227, 121250, 3, 0.001872 - - - DNA PE - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(6320g>a) p.(Arg2107His) Parent #1 ACMG likely pathogenic (recessive) g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T ABCA4(NM_000350.3):c.6320G>A (p.R2107H) - ABCA4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - likely pathogenic g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - likely pathogenic g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. - c.6320G>A r.(?) p.(Arg2107His) Unknown - VUS g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs62642564 Germline - 5/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 5 Yoshito Koyanagi
+/. - c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T - 1:94466624C>T ENST00000370225.3:c.6320G>A (Arg2107His) - ABCA4_000093 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001433 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
+/. - c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T - 1:94466624C>T ENST00000370225.3:c.6320G>A (Arg2107His) - ABCA4_000093 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000142 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat92 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.6320G>A r.(?) p.(Arg2107His) Parent #2 - likely pathogenic g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 689 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.6320G>A r.(?) p.(Arg2107His) Unknown - likely pathogenic g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 780 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.6320G>A r.(?) p.(Arg2107His) Parent #2 - likely pathogenic g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 800 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown ACMG likely pathogenic g.94466624C>T - - - ABCA4_000093 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown ACMG likely pathogenic g.94466624C>T - - - ABCA4_000093 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Maternal (confirmed) ACMG likely pathogenic g.94466624C>T - - - ABCA4_000093 - Mena et al., 2020 submitted - - Germline yes - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F - Argentina - - - - - 1 Marcela Mena
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown ACMG likely pathogenic g.94466624C>T - - - ABCA4_000093 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - M no Argentina - - - - - 1 Marcela Mena
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown ACMG likely pathogenic g.94466624C>T - - - ABCA4_000093 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F no Argentina - - - - - 1 Marcela Mena
+?/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown ACMG likely pathogenic g.94466624C>T - - - ABCA4_000093 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - M no Argentina - - - - - 1 Marcela Mena
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T p.R2107H - ABCA4_000093 no variant 2nd chromosome; no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10061 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Both (homozygous) - pathogenic (recessive) g.94466624C>T g.94001068C>T - - ABCA4_000093 - PubMed: Shroyer 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 7 PubMed: Shroyer 2001 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T Arg2107His - ABCA4_000093 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 91 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (46) p.Arg2107His - ABCA4_000093 no variant 2nd chromosome PubMed: Aguirre-Lamban 2009 - - Unknown yes - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease ARDM-166 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Paternal (confirmed) - pathogenic (recessive) g.94466624C>T g.94001068C>T R2107H - ABCA4_000093 - PubMed: Roberts 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease RPS145 PubMed: Roberts 2009 - F ? South Africa - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.R2107H) - ABCA4_000093 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 7 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.R2107H) - ABCA4_000093 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 8 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.R2107H) - ABCA4_000093 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 9 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.R2107H) - ABCA4_000093 no variant 2nd chromosome PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 10 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A p.(R2107H) - ABCA4_000093 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 557 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.Arg2107His) - ABCA4_000093 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 38 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Both (homozygous) - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.Arg2107His) - ABCA4_000093 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3794 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.Arg2107His) - ABCA4_000093 no variant 2nd chromosome PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3609 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.Arg2107His) - ABCA4_000093 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3118 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.Arg2107His) - ABCA4_000093 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3579 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A (p.Arg2107His) - ABCA4_000093 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5056 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 no variant 2nd chromosome PubMed: Cai 2018 - - Unknown - - - - - DNA ? - - retinal disease P11 PubMed: Cai 2018 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 - PubMed: Cai 2018 - - Unknown - - - - - DNA ? - - retinal disease P14 PubMed: Cai 2018 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A,p.Arg2107His - ABCA4_000093 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11028 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G.A p.Arg2107His - ABCA4_000093 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P29 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Parent #1 - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A p.(Arg2107His) - ABCA4_000093 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67142 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A p.Arg2107His - ABCA4_000093 no variant 2nd chromosome PubMed: Song 2011 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - Retina-Array retinal disease 5 PubMed: Song 2011 Furthermore, c.1720C>T was found in GUCY2D, c.74T>A was found in LRAT and c.253G>A was found in GUCA1B F ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A; - ABCA4_000093 - PubMed: Light 2017PubMed: Cai 2018 - - Unknown - - - - - DNA ? - - retinal disease P16; P8 PubMed: Light 2017PubMed: Cai 2018 - F ? United States African American - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>A r.(?) p.(Arg2107His) Unknown - pathogenic (recessive) g.94466624C>T g.94001068C>T c.6320G>A - ABCA4_000093 no variant 2nd chromosome PubMed: Light 2017 - - Unknown - - - - - DNA ? - - retinal disease P18 PubMed: Light 2017 - M ? United States African American - - - - 1 Stéphanie Cornelis
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