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.

43 entries on 1 page. Showing entries 1 - 43.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+/. 3 c.194G>A r.(?) p.(Gly65Glu) Parent #2 - pathogenic g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Braun 2013 - - Unknown yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents F no United States - - - - - 1 Johan den Dunnen
?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - VUS g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - VUS g.94577102C>T g.94111546C>T GGA > GAA - ABCA4_000033 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - pathogenic g.94577102C>T g.94111546C>T 194G>A - ABCA4_000033 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic g.94577102C>T g.94111546C>T Gly65Glu - ABCA4_000033 - PubMed: Fishman 1999, PubMed: Genead 2009 - - Germline ? - - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Genead 2009 - F ? - white - - - - 1 Stéphanie Cornelis
?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - VUS g.94577102C>T g.94111546C>T 194G > A - ABCA4_000033 - 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
?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - VUS g.94577102C>T g.94111546C>T 194G > A - ABCA4_000033 - 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
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic g.94577102C>T g.94111546C>T 194G>A - ABCA4_000033 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - VUS g.94577102C>T g.94111546C>T G65E - ABCA4_000033 - PubMed: Jaakson 2003 - - Germline - - - - - 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
?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - VUS g.94577102C>T g.94111546C>T c.194G>A - ABCA4_000033 - 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
?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - VUS g.94577102C>T g.94111546C>T c.194G>A - ABCA4_000033 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 3 c.194G>A r.(194g>a) p.(Gly65Glu) Parent #1 ACMG pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.194G>A r.(?) p.(Gly65Glu) Parent #1 - pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat29 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.194G>A r.(?) p.(Gly65Glu) Parent #2 - likely pathogenic g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 656 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T p.Gly65Glu - ABCA4_000033 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 29 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Parent #1 - likely pathogenic (recessive) g.94577102C>T g.94111546C>T E3 c.194G>A (p.Gly65Glu) - ABCA4_000033 - PubMed: Müller 2017PubMed: Gliem 2020 - - Unknown yes - - - - DNA ? - - retinal disease 12; 9 PubMed: Müller 2017PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A p.(G65E) - ABCA4_000033 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 383 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A (p.Gly65Glu) - ABCA4_000033 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3263 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A, p.Gly65Glu - ABCA4_000033 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12042 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A, p.Gly65Glu - ABCA4_000033 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15080 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Parent #1 - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.[194G>A] - ABCA4_000033 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P10T3 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.[194G>A] - ABCA4_000033 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P3T3 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T E3 c.194G>A/p.(Gly65Glu) E17 c.2588G>C/p.(Gly963Ala) - ABCA4_000033 - PubMed: Müller 2019PubMed: Müller 2020PubMed: Müller 2020 - - Unknown - - - - - DNA ? - - retinal disease 15; 18; 44 PubMed: Müller 2019PubMed: Müller 2020PubMed: Müller 2020 - F ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A/p.G65E - ABCA4_000033 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 260 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A/p.G65E - ABCA4_000033 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 228 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A/p.G65E - ABCA4_000033 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 264 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A, p.Gly65Glu Heterozygous - ABCA4_000033 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1812-2404 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A, p.Gly65Glu Heterozygous - ABCA4_000033 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2502-3173 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T Gly1961Glu & Gly65Glu - ABCA4_000033 - PubMed: Anastasakis 2011 - - Unknown - - - - - DNA ? - - retinal disease 6 PubMed: Anastasakis 2011 - F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Parent #2 - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A Gly65Glu GGA>GAA - ABCA4_000033 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 656 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A p.(Gly65Glu) - ABCA4_000033 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC07994 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T g.94111546C>T c.194G>A, p.Gly65Glu Heterozygous - ABCA4_000033 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 2340-2975 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Paternal (confirmed) ACMG likely pathogenic g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 239 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Maternal (confirmed) ACMG likely pathogenic g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 247 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+?/. 3 c.194G>A r.(?) p.(Gly65Glu) Unknown - likely pathogenic (recessive) g.94577102C>T - c.194G>A - ABCA4_000033 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70821 PubMed: Khan 2020 - F - Canada - - - - - 1 LOVD
+/. - c.194G>A r.(?) p.(Gly65Glu) Parent #1 - pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0015 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.194G>A r.(?) p.(Gly65Glu) Unknown - pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0350 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.194G>A r.(?) p.(Gly65Glu) Parent #1 - pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0382 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.194G>A r.(?) p.(Gly65Glu) Unknown - pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0429 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.194G>A r.(?) p.(Gly65Glu) Unknown - pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0578 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.194G>A r.(?) p.(Gly65Glu) Parent #1 - pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1003 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.194G>A r.(?) p.(Gly65Glu) Unknown - pathogenic (recessive) g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-325 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 3 c.194G>A r.(?) p.(Gly65Glu) Parent #1 ACMG pathogenic g.94577102C>T g.94111546C>T - - ABCA4_000033 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073303 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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