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.

96 entries on 1 page. Showing entries 1 - 96.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

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?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - likely pathogenic g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - likely pathogenic g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Both (homozygous) - likely pathogenic g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - likely pathogenic g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - likely pathogenic g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - CORD3 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 20 c.2966T>C r.(?) p.(Val989Ala) Paternal (confirmed) - likely pathogenic g.94510253A>G g.94044697A>G GTT > GCT - ABCA4_000108 - PubMed: Briggs 2001 - - Germline yes ExAC 36, 121412, 0, 0.0002965 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 20 c.2966T>C r.(?) p.(Val989Ala) Paternal (confirmed) - likely pathogenic g.94510253A>G g.94044697A>G GTT > GCT - ABCA4_000108 - PubMed: Briggs 2001 - - Germline yes ExAC 36, 121412, 0, 0.0002965 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-046; 2-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - VUS g.94510253A>G g.94044697A>G 2966T>C - ABCA4_000108 - PubMed: Webster 2001 - - Germline - ExAC 36, 121412, 0, 0.0002965 - - - 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
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - VUS g.94510253A>G g.94044697A>G 2966T>C - ABCA4_000108 - PubMed: Webster 2001 - - Germline - ExAC 36, 121412, 0, 0.0002965 - - - 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
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - VUS g.94510253A>G g.94044697A>G V989A - ABCA4_000108 - PubMed: Jaakson 2003 - - Germline - ExAC 36, 121412, 0, 0.0002965 - - - 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.2966T>C r.(?) p.(Val989Ala) Unknown - likely benign g.94510253A>G g.94044697A>G V989A - ABCA4_000108 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 36, 121412, 0, 0.0002965 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - VUS g.94510253A>G g.94044697A>G c.2966T>C - ABCA4_000108 - PubMed: Zernant 2011 - - Germline - 36, 121412, 0, 0.0002965 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - VUS g.94510253A>G g.94044697A>G p.V989A - ABCA4_000108 - PubMed: Strom 2012 - - Germline - 36, 121412, 0, 0.0002965 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Strom 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - VUS g.94510253A>G g.94044697A>G 2966T>C - ABCA4_000108 - PubMed: Downes 2012 - - Germline - 36, 121412, 0, 0.0002965 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic g.94510253A>G g.94044697A>G c.2966T>C - ABCA4_000108 - PubMed: Riveiro-Alvarez 2013 - - Germline - 36, 121412, 0, 0.0002965 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - likely pathogenic g.94510253A>G g.94044697A>G c.2966T>C, p.Val989Ala - ABCA4_000108 - PubMed: Fujinami 2013 - - Germline - 36, 121412, 0, 0.0002965 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 20 c.2966T>C r.(?) p.(Val989Ala) Paternal (confirmed) - VUS g.94510253A>G g.94044697A>G p.V989A - ABCA4_000108 - PubMed: Duncker 2015 - - Germline - 36, 121412, 0, 0.0002965 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - Black - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(2966u>c) p.(Val989Ala) Parent #1 ACMG pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 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.2966T>C r.(?) p.(Val989Ala) Parent #2 - likely pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian/African - - - - 1 Jana Zernant
+?/. - c.2966T>C r.(?) p.(Val989Ala) Parent #1 - likely pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian/Moroccan - - - - 29 Jana Zernant
+?/. - c.2966T>C r.(?) p.(Val989Ala) Parent #1 - likely pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian/Moroccan - - - - 29 Jana Zernant
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G - 1:94510253A>G ENST00000370225.3:c.2966T>C (Val989Ala) - ABCA4_000108 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009850 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
?/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - VUS g.94510253A>G - ABCA4(NM_000350.2):c.2966T>C (p.V989A) - ABCA4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G val989ala exon 20, heterozygous - ABCA4_000108 no variant 2nd chromosome PubMed: Pasadhika 2009 - - Unknown - - - - - DNA SSCA, SEQ - - retinal disease 4 PubMed: Pasadhika 2009 - F ? United States African American - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G V989A - ABCA4_000108 - PubMed: Cideciyan 2012PubMed: Huang 2014 - - Unknown yes - - - - DNA ? - - retinal disease P2‡; P9‡ PubMed: Cideciyan 2012PubMed: Huang 2014 Sibling of P17 F ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G V989A - ABCA4_000108 - PubMed: Cideciyan 2012 - - Unknown yes - - - - DNA ? - - retinal disease P17‡ PubMed: Cideciyan 2012 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C p.Val989Ala - ABCA4_000108 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 76 PubMed: Cideciyan 2015 sibling of patients 77 & 78 F ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C p.Val989Ala - ABCA4_000108 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 77 PubMed: Cideciyan 2015 sibling of patients 76 & 78 F ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C p.Val989Ala - ABCA4_000108 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 78 PubMed: Cideciyan 2015 sibling of patients 76 & 77 F ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G p.(V989A) - ABCA4_000108 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90137 PubMed: Lee 2017 - F ? - India;Africa - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9018 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4542 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3321 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3176 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3945 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 9081 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Both (homozygous) - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3510 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3706 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5222 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G p.V989A - ABCA4_000108 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 25 PubMed: Paavo 2018 - - ? United States white - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989Ala - ABCA4_000108 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11017 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989Ala - ABCA4_000108 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12006 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989Ala - ABCA4_000108 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14056 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989Ala - ABCA4_000108 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15038 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G ENST00000370225.3:c.2966T>C p.Val989Ala 0/1 - ABCA4_000108 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G009850 PubMed: Carss 2017 - M ? England Africa - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C/p.V989A - ABCA4_000108 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 181 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G p.V989A - ABCA4_000108 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 9 PubMed: Chen 2019 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C p.Val989Ala het - ABCA4_000108 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2012-010-017 Prevention Genetics - - ? - African American - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ-NG-I - solid state SBS retinal disease 121-834 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ - - retinal disease 1386-1920 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3346-4094 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ - - retinal disease 4665-5670 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5352-6464 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G p.(V989A) - ABCA4_000108 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90169 PubMed: Lee 2017 Sibling of 90169 F ? - India;Morocco - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G p.(V989A) - ABCA4_000108 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90170 PubMed: Lee 2017 Sibling of 90170 F ? - India;Morocco - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3002 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #2 - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3977 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C (p.Val989Ala) - ABCA4_000108 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4338 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C - ABCA4_000108 - PubMed: Cai 2018 - - Unknown - - - - - DNA ? - - retinal disease P14 PubMed: Cai 2018 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989Ala - ABCA4_000108 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11031 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #2 - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C - ABCA4_000108 - PubMed: Midgley 2020 - - Unknown - - - - - DNA PE, SSCA, SEQ - SSCP or APEX or SEQ retinal disease Unknown 1094 PubMed: Midgley 2020 - - ? South Africa - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3243-3981 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966C>T, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ - - retinal disease 3929-4787 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ - - retinal disease 4013-4917 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4784-5804 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5821-7276 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G c.2966T>C, p.Val989la Heterozygous - ABCA4_000108 - PubMed: Goetz 2020 - - Unknown - 36, 121412, 0, 0.0002965 - - - DNA SEQ-NG-I - solid state SBS retinal disease 899-1421 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - likely pathogenic g.94510253A>G g.94044697A>G ABCA4 c.2966T>C, p.Val989Ala - ABCA4_000108 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009850 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - likely pathogenic (recessive) g.94510253A>G - c.2966T>C, p.Val989Ala - ABCA4_000108 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 48 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - likely pathogenic g.94510253A>G - ABCA4(NM_000350.2):c.2966T>C (p.V989A) - ABCA4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G - c.2966T>C - ABCA4_000108 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70597 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic g.94510253A>G g.94044697A>G c.[455G>A;2966T>C] - ABCA4_000108 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Fam5 PubMed: Huang 2022 2-generation family, 2 affected - - Australia - - - - - 2 Johan den Dunnen
+?/. 20 c.2966T>C r.(?) p.(Val989Ala) Unknown ACMG pathogenic g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Ben Yosef 2023 - - Unknown - - - - - DNA MIP - - STGD Fam12 PubMed: Ben Yosef 2023 family, 1 affected M no Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+/. 20 c.2966T>C r.(?) p.(Val989Ala) Parent #1 ACMG pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat88 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0412 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0498 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0516 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0546 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0602 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Parent #1 - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0604 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA MCA, SEQ - - retinal disease L-0925 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1014 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1092 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0267 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0372 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Parent #2 - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0529 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1001 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-73 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-109 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-117 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-199 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-249 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-397 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-135 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-205 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2966T>C r.(?) p.(Val989Ala) Unknown - pathogenic (recessive) g.94510253A>G g.94044697A>G - - ABCA4_000108 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-387 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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