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.

77 entries on 1 page. Showing entries 1 - 77.
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?/. 5 c.455G>A r.(?) p.(Arg152Gln) Both (homozygous) - VUS g.94568686C>T g.94103130C>T [R152Q (5); R2107H (46)] - ABCA4_000212 - PubMed: Paloma 2001 - - Germline ? - - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T R152Q - ABCA4_000212 - PubMed: Fumagalli 2001 - - Germline - ExAC 290, 120866, 1, 0.002399 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T CGA 455 CAA 5084_x0001_1G/A - ABCA4_000212 - PubMed: Ducroq 2002 - - Germline - - - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? France ? - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T R152Q - ABCA4_000212 - PubMed: Jaakson 2003 - - Germline - ExAC 290, 120866, 1, 0.002399 - - - 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
+?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - likely pathogenic g.94568686C>T g.94103130C>T R152Q - ABCA4_000212 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 290, 120866, 1, 0.002399 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A - ABCA4_000212 - PubMed: Stenirri 2008 - - Germline - 290, 120866, 1, 0.002399 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A, p.Arg152Gln - ABCA4_000212 - PubMed: Roberts 2012 - - Germline - 290, 120866, 1, 0.002399 - - - 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
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A, p.Arg152Gln - ABCA4_000212 - PubMed: Roberts 2012 - - Germline - 290, 120866, 1, 0.002399 - - - 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
+?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - likely pathogenic g.94568686C>T g.94103130C>T 455G>A - ABCA4_000212 - PubMed: Downes 2012 - - Germline ? 290, 120866, 1, 0.002399 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A - ABCA4_000212 - PubMed: Lambertus 2015 - - Germline - 290, 120866, 1, 0.002399 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T p.[(R152*; V2050L)] - ABCA4_000212 - PubMed: Sciezynska 2015 - - Germline ? - - - - DNA SEQ-NG-R - - CORD - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T p.[(R152*; V2050L)] - ABCA4_000212 - PubMed: Sciezynska 2015 - - Germline ? - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T p.[(R152*; V2050L)] - ABCA4_000212 - PubMed: Sciezynska 2015 - - Germline ? - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T p.[(R152*; V2050L)] - ABCA4_000212 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T p.[(R152*; V2050L)] - ABCA4_000212 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T p.[(R152*; V2050L)] - ABCA4_000212 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T p.[(R152*; V2050L)] - ABCA4_000212 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T p.[(R152*; V2050L)] - ABCA4_000212 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(455g>a) p.(Arg152Gln) Parent #1 ACMG VUS g.94568686C>T g.94103130C>T - - ABCA4_000212 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - likely pathogenic g.94568686C>T g.94103130C>T - - ABCA4_000212 - - - - Germline - - - - - DNA SEQ - - STGD1 - - - - - - - - - - - 3 Darren O'Rielly
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #2 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Both (homozygous) - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS5PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 3 Terry-Lynn Young
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Both (homozygous) - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS5PatII-4 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS28PatII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #2 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS23PatII-3 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #2 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS23PatII-4 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 2 Terry-Lynn Young
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #2 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene ? FamS5PatIII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #2 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene ? FamS1PatIII-4 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 3 Terry-Lynn Young
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #2 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene STGD FamS1PatIII-6 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #2 - likely benign g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS1PatV-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+?/. - c.455G>A r.(?) p.(Arg152Gln) Unknown ACMG likely pathogenic g.94568686C>T - - - ABCA4_000212 - 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
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T Arg152Gln, Arg1108Cys, Arg2107His - ABCA4_000212 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 82 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T Arg152Gln, Arg1108Cys, Arg2107His - ABCA4_000212 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 83 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T Arg152Gln, Arg1108Cys, Arg2107His - ABCA4_000212 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 84 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T Arg152Gln, Arg1108Cys, Arg2107His - ABCA4_000212 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 85 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T Arg152Gln, Arg1108Cys, Arg2107His - ABCA4_000212 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 86 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T Arg152Gln, Arg1108Cys, Arg2107His - ABCA4_000212 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 87 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T R152Q - ABCA4_000212 - PubMed: Olivo 2015 - - Unknown - - - - - DNA ? - - retinal disease Unknown 332 PubMed: Olivo 2015 - M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.(R152Q) - ABCA4_000212 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 389 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T p.Arg152Gln - ABCA4_000212 - PubMed: Melillo 2018 - - Unknown - - - - - DNA ? - - retinal disease 8 PubMed: Melillo 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A, p.Arg152Gln - ABCA4_000212 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15056 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.Arg152Gln - ABCA4_000212 no variant 2nd chromosome; no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 32 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.(Arg152Gln) - ABCA4_000212 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 66725 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T c.[455G>A;1609C>T] p.[(Arg152Gln;Arg537Cys)] - ABCA4_000212 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67238 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T g.94103130C>T c.[455G>A;3322C>T;6320G>A] p.[Arg152Gln;Arg1108Cys;Arg2107His] - ABCA4_000212 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67308 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A - ABCA4_000212 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 860 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T R152Q - ABCA4_000212 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 30. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T R152Q; - ABCA4_000212 - PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease T8 PubMed: Melillo 2020 - M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T het c.455G>A p.Arg152Gln - ABCA4_000212 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 77 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.Arg152Gln het - ABCA4_000212 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-354-435 Prevention Genetics - - ? - England;Scotland;Germany - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.Arg152Gln Het - ABCA4_000212 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-096-130 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.Arg152Gln Het - ABCA4_000212 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-136-141 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.Arg152Gln Het - ABCA4_000212 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-158-043 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.Arg152Gln Het - ABCA4_000212 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-234-444 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A p.Arg152Gln het - ABCA4_000212 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2020-156-097 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A, p.Arg152Gln Heterozygous - ABCA4_000212 - PubMed: Goetz 2020 - - Unknown - 290, 120866, 1, 0.002399 - - - DNA SEQ - - retinal disease 1423-1963 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T R152Q - ABCA4_000212 - PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 9 PubMed: Aleman 2007 - M ? United States - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #2 - VUS g.94568686C>T g.94103130C>T c.[455G>A;5603A>T] p.[Arg152Gln;Asn1868Ile] - ABCA4_000212 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67203 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A, p.Arg152Gln heterozygous - ABCA4_000212 - PubMed: Goetz 2020 - - Unknown - 290, 120866, 1, 0.002399 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 128-816 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A, p.Arg152Gln Heterozygous - ABCA4_000212 - PubMed: Goetz 2020 - - Unknown - 290, 120866, 1, 0.002399 - - - DNA SEQ - - retinal disease 305-1687 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A, p.(Arg152Gln) Heterozygous - ABCA4_000212 - PubMed: Goetz 2020 - - Unknown - 290, 120866, 1, 0.002399 - - - DNA SEQ - - retinal disease 3507-5174 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T c.455G>A, p.Arg152Gln Heterozygous - ABCA4_000212 - PubMed: Goetz 2020 - - Unknown - 290, 120866, 1, 0.002399 - - - DNA SEQ - - retinal disease 992-1512 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T - ABCA4(NM_000350.2):c.455G>A (p.R152Q) - ABCA4_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.455G>A r.(?) p.(Arg152Gln) Unknown ACMG VUS g.94568686C>T g.94103130C>T ABCA4:NM_000350 c.G455A, p.R152Q - ABCA4_000212 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-279 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.455G>A r.(?) p.(Arg152Gln) Unknown ACMG VUS g.94568686C>T g.94103130C>T ABCA4:NM_000350 c.G455A, p.R152Q - ABCA4_000212 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-291 PubMed: Rodriguez-Munoz 2020 family fRPN-134, proband F - Spain - - - - - 1 LOVD
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T - c.455G>A - ABCA4_000212 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71376 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - VUS g.94568686C>T - c.[455G>A;3322C>T;5603A>T;6320G>A] - ABCA4_000212 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71388 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T - c.455G>A - ABCA4_000212 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67242 PubMed: Khan 2019PubMed: Khan 2020 - M - France - - - - - 1 LOVD
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - likely benign g.94568686C>T g.94103130C>T c.[455G>A;2966T>C] - ABCA4_000212 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Fam5 PubMed: Huang 2022 2-generation family, 2 affected - - Australia - - - - - 2 Johan den Dunnen
-?/. 5 c.455G>A r.(?) p.(Arg152Gln) Parent #1 - likely benign g.94568686C>T g.94103130C>T c.[455G>A;4163T>C] - ABCA4_000212 - PubMed: Huang 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - retinal disease Pat49 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
?/. 5 c.455G>A r.(?) p.(Arg152Gln) Unknown ACMG VUS g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat212 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. - c.455G>A r.(?) p.(Arg152Gln) Unknown - VUS g.94568686C>T g.94103130C>T - - ABCA4_000212 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-23 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. - c.455G>A r.(?) p.(Arg152Gln) Unknown - likely benign g.94568686C>T - ABCA4(NM_000350.2):c.455G>A (p.R152Q) - ABCA4_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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