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.

79 entries on 1 page. Showing entries 1 - 79.
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-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - benign g.94512565C>T g.94047009C>T - - ABCA4_000002 predicted benign PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - benign g.94512565C>T g.94047009C>T - - ABCA4_000002 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Booij 2011 - - Germline - ExAC 3722, 121196, 87, 0.03071 - - - DNA arraySEQ, PCR, SEQ - - STGD1 - PubMed: Booij 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - likely pathogenic g.94512565C>T g.94047009C>T 1715G>A, 2588G>C, 2828G>A - ABCA4_000002 - PubMed: Shroyer 2000 - - Germline yes - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 4 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - likely pathogenic g.94512565C>T g.94047009C>T 1715G>A, 2588G>C, 2828G>A - ABCA4_000002 - PubMed: Shroyer 2000 - - Germline yes - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 4 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - likely pathogenic g.94512565C>T g.94047009C>T 1715G>A, 2588G>C, 2828G>A - ABCA4_000002 - PubMed: Shroyer 2000 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - likely pathogenic g.94512565C>T g.94047009C>T 1715G>A, 2588G>C, 2828G>A - ABCA4_000002 - PubMed: Shroyer 2000 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T R943Q - ABCA4_000002 - PubMed: Jaakson 2003 - - Germline - ExAC 3722, 121196, 87, 0.03071 - - - 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
?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T 2828G>A - ABCA4_000002 - PubMed: Valverde 2007 - - Germline - ExAC 3722, 121196, 87, 0.03071 - - - DNA PCR, PE, SEQ, DHPLC - APEX ? - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T 2828G>A - ABCA4_000002 - PubMed: Valverde 2007 - - Germline - ExAC 3722, 121196, 87, 0.03071 - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T 2828G>A - ABCA4_000002 - PubMed: Valverde 2007 - - Germline - 3722, 121196, 87, 0.03071 - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
-?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T 2828G>A - ABCA4_000002 - PubMed: Valverde 2007 - - Germline - 3722, 121196, 87, 0.03071 - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T 2828G>A - ABCA4_000002 - PubMed: Valverde 2007 - - Germline - 3722, 121196, 87, 0.03071 - - - DNA PCR, PE, SEQ, DHPLC - APEX retinal disease - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T 2828G>A - ABCA4_000002 - PubMed: Downes 2012 - - Germline - 3722, 121196, 87, 0.03071 - - - DNA SEQ, MLPA - - macular dystrophy - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 19 c.2828G>A r.(2828g>a) p.(Arg943Gln) Parent #1 ACMG likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T ABCA4(NM_000350.3):c.2828G>A (p.R943Q, p.(Arg943Gln)) - ABCA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T ABCA4(NM_000350.3):c.2828G>A (p.R943Q, p.(Arg943Gln)) - ABCA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs1801581 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T ABCA4(NM_000350.3):c.2828G>A (p.R943Q, p.(Arg943Gln)) - ABCA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 182 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801581 Germline - 182/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 182 Mohammed Faruq
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Both (homozygous) - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801581 Germline - 5/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown ACMG likely pathogenic g.94512565C>T - - - ABCA4_000002 - 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
+/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - pathogenic (recessive) g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat7 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Bryant 2018 - rs61749446 Germline - - - - - DNA SEQ-NG - WES retinal disease JB184 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Bryant 2018 - rs1801581 Germline - - - - - DNA SEQ-NG - WES retinal disease JB200 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Bryant 2018 - rs61749446 Germline - - - - - DNA SEQ-NG - WES retinal disease JB181 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - pathogenic g.94512565C>T g.94047009C>T G2828A - ABCA4_000002 - PubMed: Sheremet 2017 - rs1801581 Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat6 PubMed: Sheremet 2017 patient M - Russia - - - - - 1 LOVD
+?/. - c.2828G>A r.(?) p.(Arg943Gln) Both (homozygous) - likely pathogenic g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Zolnikova 2017 - rs1801581 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P002 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
+?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely pathogenic g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Zolnikova 2017 - rs1801581 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P005 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
+?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely pathogenic g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Zolnikova 2017 - rs1801581 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P004 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat6 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T R943Q - ABCA4_000002 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0033 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T c.2828G>A p.(R943Q) - ABCA4_000002 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 435 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T c.2828G>A - ABCA4_000002 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 799 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - benign g.94512565C>T g.94047009C>T c.2828G>A c.2588G>C - ABCA4_000002 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Wang 2014 - F ? United States - - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T c.2828G>A p.(Arg943Gln) - ABCA4_000002 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1302 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T c.2828G>A p.(Arg943Gln) - ABCA4_000002 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1309 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - benign g.94512565C>T g.94047009C>T R943Q - ABCA4_000002 - PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 1 PubMed: Aleman 2007 - M ? United States - - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Unknown - benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Reinhard 2007 - - Unknown - - - - - DNA DGGE, DHPLC, SSCA - - retinal disease 1 PubMed: Reinhard 2007 - M ? Germany - - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - benign g.94512565C>T g.94047009C>T Gly863Ala; Arg943Gln - ABCA4_000002 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 162 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
-/. - c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - benign g.94512565C>T g.94047009C>T c.2828G.A - ABCA4_000002 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 5 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
-/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #2 - benign g.94512565C>T g.94047009C>T c.2828G>A - ABCA4_000002 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Wang 2014 - F ? United States - - - - - 1 Stéphanie Cornelis
?/. - c.2828G>A r.(?) p.(Arg943Gln) Parent #2 - VUS g.94512565C>T - - - ABCA4_000002 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 5 PubMed: Wang 2014 - M ? United States - - - - - 1 Stéphanie Cornelis
?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Wang 2014 - rs1801581 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 60 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Wang 2014 - rs1801581 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 63 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - VUS g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Wang 2014 - rs1801581 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 38 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+/. 19 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - pathogenic g.94512565C>T - c.2588G>C/c.2828G>A - ABCA4_000002 normal 2nd chromosome PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Both (homozygous) - likely benign g.94512565C>T - 2588G>C; 2828G>A - ABCA4_000002 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - likely benign g.94512565C>T - 2588G>C; 2828G>A - ABCA4_000002 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Parent #2 - likely benign g.94512565C>T - 2588G>C; 2828G>A - ABCA4_000002 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - likely benign g.94512565C>T - 2588G>C; 2828G>A - ABCA4_000002 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX retinal disease - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Both (homozygous) - likely benign g.94512565C>T - - - ABCA4_000002 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Both (homozygous) - likely benign g.94512565C>T - - - ABCA4_000002 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (confirmed) - likely benign g.94512565C>T - 2588G>C, 2828G>A - ABCA4_000002 - PubMed: Shroyer 2001 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (confirmed) - likely benign g.94512565C>T - 2588G>C; 2828G>A - ABCA4_000002 - PubMed: Shroyer 2000 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Maternal (confirmed) - likely benign g.94512565C>T - 2588G>C; 2828G>A - ABCA4_000002 - PubMed: Shroyer 2001 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Maternal (confirmed) - likely benign g.94512565C>T - 2588G>C; 2828G>A - ABCA4_000002 - PubMed: Shroyer 2001 - - Germline - - - - - DNA Southern, PCR, SEQ - - STGD1 - PubMed: Yatsenko 2003 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (confirmed) - likely benign g.94512565C>T - 2588G>C; 2828G>A - ABCA4_000002 - PubMed: Shroyer 2001 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (inferred) - likely benign g.94512565C>T - - - ABCA4_000002 - PubMed: Papaioannou 2000 - - Germline - - - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (inferred) - likely benign g.94512565C>T - 2588G>C(;)2828G>A - ABCA4_000002 - PubMed: Papaioannou 2000 - - Germline - - - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (inferred) - likely benign g.94512565C>T - 2588G>C(;)2828G>A - ABCA4_000002 - PubMed: Papaioannou 2000 - - Germline - - - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (inferred) - likely benign g.94512565C>T - 2588G>C(;)2828G>A - ABCA4_000002 - PubMed: Papaioannou 2000 - - Germline - - - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (inferred) - likely benign g.94512565C>T - 2588G>C(;)2828G>A - ABCA4_000002 - PubMed: Papaioannou 2000 - - Germline - - - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T - 2588G>C(;)2828G>A - ABCA4_000002 - PubMed: Papaioannou 2000 - - Germline - - - - - DNA HD, SEQ - - CORD - 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
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Paternal (inferred) - likely benign g.94512565C>T - 2588G>C(;)2828G>A - ABCA4_000002 - PubMed: Papaioannou 2000 - - Germline - - - - - 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
?/. - c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - VUS g.94512565C>T - 1804C>T;2828G>A - ABCA4_000002 - PubMed: Chacón-Camacho 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T ABCA4 R943Q, 2828G->A - ABCA4_000002 heterozygous, no second allele found PubMed: Shastry 2008 - - Unknown no - - - - DNA RFLP - - STGD 1_II-1 PubMed: Shastry 2008 family 1; affected maternal aunt does not have the mutation F - - - - - - - 1 LOVD
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T ABCA4 R943Q, 2828G->A - ABCA4_000002 heterozygous, no second allele found PubMed: Shastry 2008 - - Unknown ? - - - - DNA RFLP - - STGD 2_II-1 PubMed: Shastry 2008 family 2 M - - - - - - - 1 LOVD
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T ABCA4 R943Q, 2828G->A - ABCA4_000002 heterozygous, no second allele found PubMed: Shastry 2008 - - Unknown ? - - - - DNA RFLP - - STGD 3_II-1 PubMed: Shastry 2008 family 3 M - - - - - - - 1 LOVD
?/. 17 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - VUS g.94512565C>T g.94047009C>T ABCA4 G683A/delG863;R943Q - ABCA4_000002 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Klevering 2005 - - Germline/De novo (untested) ? - - - - DNA SSCA, SEQ - - retinal disease 6 PubMed: Klevering 2005 - F ? Netherlands - - - - - 1 LOVD
?/. 17 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - VUS g.94512565C>T g.94047009C>T ABCA4 G683A/delG863;R943Q - ABCA4_000002 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Klevering 2005 - - Germline/De novo (untested) ? - - - - DNA SSCA, SEQ - - retinal disease 3 PubMed: Klevering 2005 - M ? Netherlands - - - - - 1 LOVD
?/. 17 c.2828G>A r.(?) p.(Arg943Gln) Parent #1 - VUS g.94512565C>T g.94047009C>T ABCA4 G683A/delG863;R943Q - ABCA4_000002 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Klevering 2005 - - Germline/De novo (untested) ? - - - - DNA SSCA, SEQ - - retinal disease 4 PubMed: Klevering 2005 - F ? Netherlands - - - - - 1 LOVD
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-9 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-20 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-26 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-27 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-28 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T g.94047009C>T - - ABCA4_000002 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-53 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-28 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. - c.2828G>A r.(?) p.(Arg943Gln) Unknown - likely benign g.94512565C>T - ABCA4(NM_000350.3):c.2828G>A (p.R943Q, p.(Arg943Gln)) - ABCA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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