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.

93 entries on 1 page. Showing entries 1 - 93.
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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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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Age at death     

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?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents F no Netherlands - - - - - 1 Nathalie Bax
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Glockle 2014 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - DNA SEQ-NG-S - - CORD - PubMed: Glockle 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic g.94495078A>G g.94029522A>G TGC > CGC - ABCA4_000042 - PubMed: Briggs 2001 - - Germline ? ExAC 1, 70400, 0, 0.0000142 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G Cys1488Arg - ABCA4_000042 - PubMed: Fishman 1999 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G 4462T→C - ABCA4_000042 - PubMed: Yatsenko 2001 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G 4462T→C - ABCA4_000042 - PubMed: Yatsenko 2001 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Webster 2001 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - 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
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Webster 2001 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - 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
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Webster 2001 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - 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
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Maternal (confirmed) - pathogenic g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Shroyer 2001 - - Germline yes - - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 6 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - pathogenic g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Shroyer 2001 - - Germline yes ExAC 1, 70400, 0, 0.0000142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 6 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Maternal (confirmed) - pathogenic g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Shroyer 2001 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Maternal (confirmed) - pathogenic g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Shroyer 2001 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G C1488R - ABCA4_000042 - PubMed: Jaakson 2003 - - Germline - ExAC 1, 70400, 0, 0.0000142 - - - 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
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 - PubMed: Kitiratschky 2008 - - Germline yes ExAC 1, 70400, 0, 0.0000142 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 - PubMed: Rosenberg 2007 - - Germline - 1, 70400, 0, 0.0000142 - - - 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
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 - PubMed: Ernest 2009 - - Germline - 1, 70400, 0, 0.0000142 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic g.94495078A>G g.94029522A>G Cys1488Arg TGC>CGC - ABCA4_000042 - PubMed: Schindler 2010 - - Germline ? 1, 70400, 0, 0.0000142 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 - PubMed: Zernant 2011 - - Germline - 1, 70400, 0, 0.0000142 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 - PubMed: Duno 2012 - - Germline - 1, 70400, 0, 0.0000142 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - - Germline ? 1, 70400, 0, 0.0000142 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - VUS g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Westeneng-van Haaften 2012 - - Germline - 1, 70400, 0, 0.0000142 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic g.94495078A>G g.94029522A>G Cys1488Arg - ABCA4_000042 - PubMed: Oldani 2012 - - Germline ? 1, 70400, 0, 0.0000142 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Downes 2012 - - Germline ? 1, 70400, 0, 0.0000142 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic g.94495078A>G g.94029522A>G 4462T>C - ABCA4_000042 - PubMed: Downes 2012 - - Germline ? 1, 70400, 0, 0.0000142 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 - PubMed: Fujinami 2013 - - Germline ? 1, 70400, 0, 0.0000142 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - South Asian - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 - PubMed: Fujinami 2013 - - Germline ? 1, 70400, 0, 0.0000142 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - F yes - South Asian - - - - 1 Stéphanie Cornelis
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 - PubMed: Lambertus 2015 - - Germline - 1, 70400, 0, 0.0000142 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4462T>C r.(4462u>c) p.(Cys1488Arg) Parent #1 ACMG pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic g.94495078A>G g.94029522A>G - - ABCA4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61750146 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #1 - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamEPatII3 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+?/. - c.4462T>C r.(?) p.(Cys1488Arg) Parent #1 - likely pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat17 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat21 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat56 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - likely pathogenic g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 691 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - likely pathogenic g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 792 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic (recessive) g.94495078A>G g.94029522A>G p.Cys1488Arg - ABCA4_000042 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 17 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic (recessive) g.94495078A>G g.94029522A>G p.Cys1488Arg - ABCA4_000042 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 21 PubMed: Birtel 2018 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C (p.Cys1488Arg) - ABCA4_000042 no variant 2nd chromosome PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2872 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #1 - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C p.(Cys1488Arg) - ABCA4_000042 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 28 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C p.(C1488R) - ABCA4_000042 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 477 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C p.(Cys1488Arg) - ABCA4_000042 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease MEH 2 PubMed: Lambertus 2017 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C (p.Cys1488Arg) - ABCA4_000042 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3784 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G p.Cys1488Arg - ABCA4_000042 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 619 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C,p.Cys1488Arg - ABCA4_000042 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13087 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C p.(Cys1488Arg) - ABCA4_000042 - PubMed: Tayebi 2019 - - Unknown - - - - - DNA MIPsm, SEQ - exons retinal disease 66,599 PubMed: Tayebi 2019 - - ? Iran Iran - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T.C p.Cys1488Arg - ABCA4_000042 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P30 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C - ABCA4_000042 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 702 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C (p.Cys1488Arg) - ABCA4_000042 - PubMed: Reich 2019PubMed: Reich 2020 - - Unknown - - - - - DNA ? - - retinal disease 4; 3 PubMed: Reich 2019PubMed: Reich 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C/p.(Cys1488Arg) - ABCA4_000042 no variant 2nd chromosome PubMed: Müller 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 14 PubMed: Müller 2020 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C/p.C1488R - ABCA4_000042 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 491 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C p.(Cys1488Arg) - ABCA4_000042 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1268 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C p.Cys1488Arg het - ABCA4_000042 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-108-042 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C p.Cys1488Arg het - ABCA4_000042 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2020-283-050 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C, p.Cys1488Arg Heterozygous - ABCA4_000042 - PubMed: Goetz 2020 - - Unknown - 1, 70400, 0, 0.0000142 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2342-2977 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C, p.Cys1488Arg Heterozygous - ABCA4_000042 - PubMed: Goetz 2020 - - Unknown - 1, 70400, 0, 0.0000142 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 615-1129 PubMed: Goetz 2020 615 is a family member of 614 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #1 - likely pathogenic (recessive) g.94495078A>G g.94029522A>G p.Cys1488Arg - ABCA4_000042 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 56 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C (p.Cys1488Arg) - ABCA4_000042 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3483 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C Cys1488Arg TGC>CGC - ABCA4_000042 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 691 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C Cys1488Arg TGC>CGC - ABCA4_000042 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 792 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C p.Cys1488Arg - ABCA4_000042 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease D22 PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G het c.4462T>C p.Cys1488Arg - ABCA4_000042 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 34 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C, p.Cys1488Arg Heterozygous - ABCA4_000042 - PubMed: Goetz 2020 - - Unknown - 1, 70400, 0, 0.0000142 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3500-5165 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C, p.Cys1488Arg Heterozygous - ABCA4_000042 - PubMed: Goetz 2020 - - Unknown - 1, 70400, 0, 0.0000142 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5820-7275 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G g.94029522A>G c.4462T>C, p.Cys1488Arg Heterozygous - ABCA4_000042 - PubMed: Goetz 2020 - - Unknown - 1, 70400, 0, 0.0000142 - - - DNA SEQ - - retinal disease 614-1129 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 12 c.4462T>C r.(?) p.(Cys1488Arg) Paternal (confirmed) ACMG pathogenic g.94495078A>G g.94029522A>G - - ABCA4_000042 - 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 264 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic g.94495078A>G g.94029522A>G c.4462T>C, p.(Cys1488Arg) - ABCA4_000042 Compound heterozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066599 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic g.94495078A>G - c.4462T>C - ABCA4_000042 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #1 - likely pathogenic (recessive) g.94495078A>G - c.4462T>C/p.(Cys1488Arg) - ABCA4_000042 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 14 PubMed: Müller 2020 unknown 2nd chromosome F ? Germany - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - likely pathogenic (recessive) g.94495078A>G - c.4462T>C/p.(Cys1488Arg) - ABCA4_000042 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 29 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G - c.4462T>C (p.C1488R) - ABCA4_000042 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease M07-0372-11232 PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively. Unknown 2nd chromosome. F ? Germany - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic (recessive) g.94495078A>G - c.4462T>C - ABCA4_000042 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70889 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - likely pathogenic (recessive) g.94495078A>G - c.4462T>C - ABCA4_000042 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70889 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Unknown - likely pathogenic (recessive) g.94495078A>G - c.4462T>C - ABCA4_000042 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA17-18368 PubMed: Khan 2020 - F - Netherlands - - - - - 1 LOVD
+?/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Paternal (inferred) ACMG pathogenic (recessive) g.94495078A>G - - - ABCA4_000042 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#68 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. 30 c.4462T>C r.(?) p.(Cys1488Arg) Parent #1 ACMG pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat167 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Parent #1 - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0859 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0173 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0174 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0584 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Parent #2 - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0636 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-75 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-84 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-215 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-370 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Both (homozygous) - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-437 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-344 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-32 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown - pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-114 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-32 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown ACMG pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG PubMed: Weisschuh 2024 99284 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-337 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+/. - c.4462T>C r.(?) p.(Cys1488Arg) Unknown ACMG pathogenic (recessive) g.94495078A>G g.94029522A>G - - ABCA4_000042 ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-359 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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