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.

184 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Alapati 2014 - - Germline - - - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Briggs 2001 - - Germline yes - - - - DNA SSCA, SEQ - - CORD - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline yes - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 2-generation family, 2 affected F yes Germany ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 2-generation family, 2 affected F yes Germany ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - VUS g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Webster 2001 - - Germline - - - - - 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
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del delG5917 - ABCA4_000392 - PubMed: Simonelli 2005 - - Germline ? - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 3 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del delG5917 - ABCA4_000392 - PubMed: Simonelli 2005 - - Germline ? - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 3 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del delG5917 - ABCA4_000392 - PubMed: Simonelli 2005 - - Germline ? - - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 3 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Rudolph 2002 - - Germline yes - - - - DNA DHPLC, SSCA - - STGD1 - PubMed: Rudolph 2002 2-generation family, 2 affected F yes Germany ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Klevering 1999 - - Germline yes - - - - DNA HD, SEQ - - retinal disease - PubMed: Rudolph 2002 2-generation family, 2 affected M yes Germany ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Kitiratschky 2008 - - Germline - - - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - VUS g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - VUS g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del VAl1973del1 ggaG - ABCA4_000392 - PubMed: Schindler 2010 - - Germline ? - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Testa 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Testa 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Testa 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del c5917 delG - ABCA4_000392 - PubMed: Kjellström 2014 - - Germline - - - - - DNA PE - APEX STGD1 - PubMed: Kjellström 2014 2-generation family, 4 affected M ? Hungary ? - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic g.94473278del g.94007722del c5917 delG - ABCA4_000392 - PubMed: Kjellström 2014 - - Germline yes - - - - DNA PE - APEX CORD - PubMed: Kjellström 2014 2-generation family, 4 affected F ? Hungary ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del c5917 delG - ABCA4_000392 - PubMed: Kjellström 2014, PubMed: Kjellström 2015 - - Germline - - - - - DNA PE - APEX STGD1 - PubMed: Kjellström 2014, PubMed: Kjellström 2015 2-generation family, 4 affected F ? Hungary ? - - - - 1 Stéphanie Cornelis
+?/. 43 c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del c5917 delG - ABCA4_000392 - PubMed: Kjellström 2014 - - Germline - - - - - DNA PE - APEX STGD1 - PubMed: Kjellström 2014 2-generation family, 4 affected F ? Hungary ? - - - - 1 Stéphanie Cornelis
?/. 43 c.5917del r.(?) p.(Val1973*) Paternal (confirmed) - VUS g.94473278del g.94007722del c.5917del - ABCA4_000392 - PubMed: Zernant 2014, PubMed: Duncker 2015 - - Germline yes - - - - DNA arrayCGH, SEQ-NG-R, SEQ-NG-I, SEQ - - STGD1 - PubMed: Zernant 2014, PubMed: Duncker 2015 - M ? - Indian - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Paternal (confirmed) - pathogenic g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Müller 2015 - - Germline - - - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(5917del) p.(Val1973Ter) Parent #1 ACMG pathogenic (recessive) g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 43 c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic g.94473278del g.94007722del - - ABCA4_000392 - - - rs61751389 Germline yes - - - - DNA SEQ-NG - - ARMD - Haer-Wigman 2016 - ? no - - - - - - 1 Lonneke Haer-Wigman
+/+ - c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic (recessive) g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian/African - - - - 1 Jana Zernant
+/. - c.5917del r.(?) p.(Val1973Ter) Unknown - pathogenic g.94473278del g.94007722del ABCA4(NM_000350.3):c.5917delG (p.V1973*) - ABCA4_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic g.94473278del g.94007722del - - ABCA4_000392 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. - c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic (recessive) g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamRPatII1 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+/. - c.5917del r.(?) p.(Val1973*) Unknown ACMG pathogenic g.94473278del - - - ABCA4_000392 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del - 1:94473277AC>A ENST00000370225.3:c.5917delG (Val1973Ter) - ABCA4_000392 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000368 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.5917del r.(?) p.(Val1973*) Both (homozygous) - likely pathogenic (recessive) g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15004872 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.5917del r.(?) p.(Val1973*) Both (homozygous) - likely pathogenic (recessive) g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15012704 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #2 - pathogenic (recessive) g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat20 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #2 - pathogenic (recessive) g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat33 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #2 - pathogenic (recessive) g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat59 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.5917del r.(?) p.(Val1973*) Both (homozygous) - likely pathogenic (recessive) g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Bryant 2018 - rs61751389 Germline - - - - - DNA SEQ-NG - WES retinal disease JB16 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.5917del r.(?) p.(Val1973*) Parent #2 - likely pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 699 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.5917del r.(?) p.(Val1973*) Parent #2 - likely pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 700 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.5917del r.(?) p.(Val1973*) Parent #2 - likely pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 701 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown ACMG pathogenic g.94473278del - - - ABCA4_000392 - 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
+/. - c.5917del r.(?) p.(Val1973*) Parent #2 - pathogenic g.94473278del g.94007722del - - ABCA4_000392 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 3850 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.5917del r.(?) p.(Val1973*) Unknown - likely pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 990697 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
?/. - c.5917del r.(?) p.(Val1973Ter) Unknown - VUS g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat7 PubMed: Tsipi 2016 see paper M - Greece - - - - - 1 LOVD
?/. - c.5917del r.(?) p.(Val1973Ter) Unknown - VUS g.94473278del g.94007722del 5917delT - ABCA4_000392 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat17 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
+?/. - c.5917del r.(?) p.(Val1973Ter) Parent #2 - likely pathogenic g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Perez-Carro 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP-1543 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Hargitai 2005 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease 3 PubMed: Hargitai 2005 - F ? Hungary - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del - ABCA4_000392 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 135 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del - ABCA4_000392 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 136 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del - ABCA4_000392 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 137 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del p.Val1973X c.5917delG - ABCA4_000392 no variant 2nd chromosome PubMed: Tsipi 2016 - - Unknown - - - - - DNA SEQ - - retinal disease 7 PubMed: Tsipi 2016 - M ? Greece - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917delG p.V1973fs - ABCA4_000392 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 18723 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917del - ABCA4_000392 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 22 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917delG p.(V1973*) - ABCA4_000392 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 540 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 14 PubMed: Klufas 2017 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del ABCA4 c.5917delG, p.(Val1973*) - ABCA4_000392 - PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15004872 PubMed: Taylor 2017 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del ABCA4 c.5917delG, p.(Val1973*) - ABCA4_000392 - PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15012704 PubMed: Taylor 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c. 5917 del (hom) - ABCA4_000392 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 30 PubMed: Schroeder 2018 - M ? Sweden - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917delG p.Val1973* - ABCA4_000392 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease H25 PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917delG# p.(Val1973*) - ABCA4_000392 - PubMed: Runhart 2018 - - Unknown - - - - - DNA PCRh, SEQ - Haloplex retinal disease R-II:1 PubMed: Runhart 2018 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic (recessive) g.94473278del g.94007722del c.[5917del] - ABCA4_000392 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P12T3 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del p.(Val1973*) - ABCA4_000392 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66711 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del p.(Val1973*) - ABCA4_000392 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66712 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del - ABCA4_000392 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1022 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917del p.(Val1973*) - ABCA4_000392 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0787 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del ABCA4 c.5917delG het - ABCA4_000392 - PubMed: Ellingford 2016 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 990697 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del ENST00000370225.3:c.5917delG p.Val1973Ter 1/1 - ABCA4_000392 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease W000368 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917del p.Val1973* - ABCA4_000392 - PubMed: Bryant 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease JB16 PubMed: Bryant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del p.(Val1973*) - ABCA4_000392 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1172 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917del/p.V1973* - ABCA4_000392 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 492 PubMed: Weisschuh 2020 - - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del/p.V1973* - ABCA4_000392 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 568 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917del/p.V1973* - ABCA4_000392 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 708 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917del/p.V1973* - ABCA4_000392 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 752 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del/p.V1973* - ABCA4_000392 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 175 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917delG p.Val1973Ter - ABCA4_000392 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0472 PubMed: Georgiou 2019 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917delG p.Val1973* het - ABCA4_000392 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2012-013-002 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917delG p.Val1973* Hom - ABCA4_000392 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-011-142 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Both (homozygous) - pathogenic (recessive) g.94473278del g.94007722del c.5917delG, deletion Homozygous - ABCA4_000392 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 951-1499 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic (recessive) g.94473278del g.94007722del p.Val1973* - ABCA4_000392 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 20 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic (recessive) g.94473278del g.94007722del p.Val1973* - ABCA4_000392 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 33 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic (recessive) g.94473278del g.94007722del p.Val1973* - ABCA4_000392 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 59 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #1 - pathogenic (recessive) g.94473278del g.94007722del (p.Val1973*) - ABCA4_000392 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 31 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #2 - pathogenic (recessive) g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Hargitai 2005 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease 12 PubMed: Hargitai 2005 - M ? Hungary - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #2 - pathogenic (recessive) g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Hargitai 2005 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease 17 PubMed: Hargitai 2005 - M ? Hungary - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #2 - pathogenic (recessive) g.94473278del g.94007722del 5917delG - ABCA4_000392 - PubMed: Hargitai 2005 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease 28 PubMed: Hargitai 2005 - M ? Hungary - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del Val1973del1ggaG - ABCA4_000392 - PubMed: Sisk 2014 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 1 PubMed: Sisk 2014 - F ? United States adopted - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Perez-Carro 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP-1543 PubMed: Perez-Carro 2016 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Parent #2 - pathogenic (recessive) g.94473278del g.94007722del p.Val1973X c.5917delT - ABCA4_000392 - PubMed: Tsipi 2016 - - Unknown yes - - - - DNA SEQ - - retinal disease 17 PubMed: Tsipi 2016 - F ? Greece - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917delG - ABCA4_000392 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 13 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del - ABCA4_000392 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90137 PubMed: Lee 2017 - F ? - India;Africa - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del - ABCA4_000392 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 78017 PubMed: Lee 2017 - M ? - Bangladesh - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del ABCA4 c.5917delG, p.(Val1973*) - ABCA4_000392 - PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15004872 PubMed: Taylor 2017 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del ABCA4 c.5917delG, p.(Val1973*) - ABCA4_000392 - PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15012704 PubMed: Taylor 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 43 c.5917del r.(?) p.(Val1973*) Unknown - pathogenic (recessive) g.94473278del g.94007722del c.5917del (p.Val1973*) - ABCA4_000392 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3228 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
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