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.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Age at death     

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Owner     
?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - likely pathogenic g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - likely pathogenic g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - likely pathogenic g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Paternal (confirmed) - likely pathogenic g.94510248C>G g.94044692C>G 2971G→C - ABCA4_000107 - PubMed: Yatsenko 2001 - - Germline yes ExAC 87, 121410, 0, 0.0007166 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Paternal (confirmed) - likely pathogenic g.94510248C>G g.94044692C>G 2971G→C - ABCA4_000107 - PubMed: Yatsenko 2001 - - Germline yes ExAC 87, 121410, 0, 0.0007166 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Paternal (confirmed) - likely pathogenic g.94510248C>G g.94044692C>G 2971G→C - ABCA4_000107 - PubMed: Yatsenko 2001 - - Germline yes ExAC 87, 121410, 0, 0.0007166 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - VUS g.94510248C>G g.94044692C>G G991R - ABCA4_000107 - PubMed: Jaakson 2003 - - Germline - ExAC 87, 121410, 0, 0.0007166 - - - 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
?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - VUS g.94510248C>G g.94044692C>G Gly991Arg - ABCA4_000107 - PubMed: Michaelides 2007 - - Germline - 87, 121410, 0, 0.0007166 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Michaelides 2007 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - VUS g.94510248C>G g.94044692C>G c.2971G>C - ABCA4_000107 - PubMed: Zernant 2011 - - Germline - 87, 121410, 0, 0.0007166 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - VUS g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg - ABCA4_000107 - PubMed: Roberts 2012 - - Germline - 87, 121410, 0, 0.0007166 - - - 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
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic g.94510248C>G g.94044692C>G 2971G>C - ABCA4_000107 - PubMed: Downes 2012 - - Germline - 87, 121410, 0, 0.0007166 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - likely benign g.94510248C>G g.94044692C>G 2971G>C - ABCA4_000107 - PubMed: Downes 2012 - - Germline - 87, 121410, 0, 0.0007166 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - likely pathogenic g.94510248C>G g.94044692C>G c.2971G>C - ABCA4_000107 - PubMed: Fujinami 2013 - - Germline - 87, 121410, 0, 0.0007166 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(2971g>c) p.(Gly991Arg) Parent #1 ACMG pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - VUS g.94510248C>G - ABCA4(NM_000350.2):c.2971G>C (p.G991R), ABCA4(NM_000350.3):c.2971G>C (p.G991R) - ABCA4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - likely pathogenic g.94510248C>G - 1:94510248C>G ENST00000370225.3:c.2971G>C (Gly991Arg) - ABCA4_000107 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008144 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Africa - - - - 1 LOVD
+?/. 20 c.2971G>C r.(?) p.(Gly991Arg) Parent #1 - likely pathogenic g.94510248C>G g.94044692C>G - - ABCA4_000107 variant other allele not reported PubMed: Ramkumar 2017 - rs61749455 Germline - - - - - DNA SEQ - 17-gene panel retinal disease - PubMed: Ramkumar 2017 - - - United States - - - - - 1 LOVD
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G p.[G991R]; - ABCA4_000107 no segregation analysis done PubMed: Sparrow 2015 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease 15 PubMed: Sparrow 2015 - M ? United States African American - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C p.Gly991Arg Het - ABCA4_000107 no variant 2nd chromosome PubMed: Ramkumar 2017 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 369 PubMed: Ramkumar 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C (p.Gly991Arg) - ABCA4_000107 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3326 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C (p.Gly991Arg) - ABCA4_000107 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3295 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C (p.Gly991Arg) - ABCA4_000107 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3044 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C (p.Gly991Arg) - ABCA4_000107 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3137 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Parent #1 - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C (p.Gly991Arg) - ABCA4_000107 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3470 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C (p.Gly991Arg) - ABCA4_000107 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4556 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C (p.Gly991Arg) - ABCA4_000107 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4367 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C,p.Gly991Arg - ABCA4_000107 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11027 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C,p.Gly991Arg - ABCA4_000107 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17004 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Parent #1 - pathogenic (recessive) g.94510248C>G g.94044692C>G c.[2971G>C;3899G>A] p.[Gly991Arg;Arg1300Gln] - ABCA4_000107 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0768 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C p.(Gly991Arg) - ABCA4_000107 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-435-928 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G p.G991R - ABCA4_000107 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 11 PubMed: Chen 2019 - M ? - Hispanic - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C p.Gly991Arg het - ABCA4_000107 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-090-257 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C p.Gly991Arg het - ABCA4_000107 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-244-111 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C p.Gly991Arg Het - ABCA4_000107 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2018-078-105 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C p.Gly991Arg Het - ABCA4_000107 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-241-278 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C p.Gly991Arg Het - ABCA4_000107 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-220-249 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C p.Gly991Arg Het - ABCA4_000107 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-234-421 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 1023-1547 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1646-2206 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 2183-2806 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2384-3018 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 4500-5483 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 5160-7164 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 5161-7164 PubMed: Goetz 2020 5161 is a family member of 5160 - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 58-724 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 5978-7471 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G pGly991Arg c2971 G . C - ABCA4_000107 - PubMed: Sisk 2014 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 2 PubMed: Sisk 2014 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G Het NM_000350.2: c.2971G>C; - ABCA4_000107 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C,p.Gly991Arg - ABCA4_000107 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12036 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G ENST00000370225.3:c.2971G>C p.Gly991Arg 0/1 - ABCA4_000107 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G008144 PubMed: Carss 2017 - F ? England Africa - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1909-3396 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 2430-3067 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2754-4329 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 346-1729 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA arraySEQ - Gene Chip retinal disease 433-932 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.(Gly991Arg) Heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 5362-6504 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G c.2971G>C, p.Gly991Arg Heterozygous - ABCA4_000107 - PubMed: Goetz 2020 - - Unknown - 87, 121410, 0, 0.0007166 - - - DNA SEQ - - retinal disease 985-1505 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - likely pathogenic g.94510248C>G g.94044692C>G ABCA4 c.2971G>C, p.Gly991Arg - ABCA4_000107 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008144 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - likely pathogenic g.94510248C>G - ABCA4(NM_000350.2):c.2971G>C (p.G991R), ABCA4(NM_000350.3):c.2971G>C (p.G991R) - ABCA4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G - c.2971G>C - ABCA4_000107 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70680 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G - c.2971G>C - ABCA4_000107 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70695 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G - c.2971G>C - ABCA4_000107 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71227 PubMed: Khan 2020 - M - United States - - - - - 1 LOVD
+/. 20 c.2971G>C r.(?) p.(Gly991Arg) Parent #1 ACMG pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat102 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0023 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0041 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0189 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0290 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0292 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Parent #1 - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0389 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA MCA, SEQ - - retinal disease L-0888 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Parent #1 - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0951 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0962 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0981 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Parent #1 - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1060 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Parent #1 - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1069 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Parent #2 - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0089 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0138 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Parent #2 - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0923 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0937 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-79 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-118 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-95 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-373 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-391 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-441 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown - pathogenic (recessive) g.94510248C>G g.94044692C>G - - ABCA4_000107 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-439 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown ACMG pathogenic g.94510248C>G g.94044692C>G - - ABCA4_000107 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 073785 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.2971G>C r.(?) p.(Gly991Arg) Unknown ACMG pathogenic g.94510248C>G g.94044692C>G - - ABCA4_000107 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 075031 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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