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.

59 entries on 1 page. Showing entries 1 - 59.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - likely pathogenic g.94502756G>A g.94037200G>A [T1253L (25); G1961E (42)] - ABCA4_000032 - PubMed: Paloma 2001 - - Germline - - - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Maternal (confirmed) - likely pathogenic g.94502756G>A g.94037200G>A 3758C>T, 5882G>A - ABCA4_000032 - PubMed: Shroyer 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Maternal (confirmed) - likely pathogenic g.94502756G>A g.94037200G>A 3758C>T, 5882G>A - ABCA4_000032 - PubMed: Shroyer 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T - ABCA4_000032 - PubMed: Rosenberg 2007 - - Germline - 37, 121234, 1, 0.0003052 - - - 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. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.14). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). ? no - ? - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A Thr1253Met - ABCA4_000032 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.14). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Michaelides 2007 - - Germline - 37, 121234, 1, 0.0003052 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Michaelides 2007 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - likely pathogenic g.94502756G>A g.94037200G>A T1253M - ABCA4_000032 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.14). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Cella 2009 - - Germline - 37, 121234, 1, 0.0003052 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Cella 2009 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - likely pathogenic g.94502756G>A g.94037200G>A G1961E, T1253M - ABCA4_000032 - PubMed: Burke 2012 - - Germline ? - - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2012 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - likely pathogenic g.94502756G>A g.94037200G>A c.[3758C>T; 5582G>A] - ABCA4_000032 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - likely pathogenic g.94502756G>A g.94037200G>A p.[(T1253M;G1961E)] - ABCA4_000032 - PubMed: Nõupuu 2014 - - Germline ? - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - likely pathogenic g.94502756G>A g.94037200G>A p.[(T1253M)] - ABCA4_000032 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.14). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Nõupuu 2014 - - Germline - 37, 121234, 1, 0.0003052 - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - likely pathogenic g.94502756G>A g.94037200G>A p.[(T1253M(;)P1380L(;)G1961E)] - ABCA4_000032 - PubMed: Nõupuu 2014 - - Germline ? - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - likely pathogenic g.94502756G>A g.94037200G>A c.3758 C>T; c.5882 G>A - ABCA4_000032 - PubMed: Zaneveld 2015 - - Germline - - - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 These two mutations were found to lie on the same allele in different patients. Therefore it is assumed they are located on the same allele in this patient as well. ? ? Canada Canadian - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - likely pathogenic g.94502756G>A g.94037200G>A c.3758 C>T - ABCA4_000032 - PubMed: Zaneveld 2015 - - Germline ? 37, 121234, 1, 0.0003052 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 These two mutations were found to lie on the same allele in different patients. Therefore it could be assumed that they are located on the same allele in this patient as well. ? ? Canada French Canadian - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - likely pathogenic g.94502756G>A g.94037200G>A c.3758 C>T; c.5882 G>A - ABCA4_000032 - PubMed: Zaneveld 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? Canada Canadian - - - - 1 Stéphanie Cornelis
+?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - likely pathogenic g.94502756G>A g.94037200G>A p.[T1253M; p.G1961E] - ABCA4_000032 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(3758c>u) p.(Thr1253Met) Parent #1 ACMG VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A Thr1253Met; Gly1961Glu - ABCA4_000032 - PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 194 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A Thr1256Met - ABCA4_000032 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 195 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A T1253M - ABCA4_000032 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2 PubMed: Burke 2011 - M ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T p.(T1253M) - ABCA4_000032 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 456 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu]) - ABCA4_000032 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3348 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu]) - ABCA4_000032 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3262 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu]) - ABCA4_000032 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3942 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu]) - ABCA4_000032 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3887 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu]) - ABCA4_000032 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3413 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu]) - ABCA4_000032 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3327 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T,p.Thr1253Met - ABCA4_000032 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11016 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T,p.Thr1253Met - ABCA4_000032 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12028 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T,p.Thr1253Met - ABCA4_000032 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12038 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.5882G.A;c.3758C.T p.Gly1961Glu;p.Thr1253Met - ABCA4_000032 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P4 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T; c.5822G>A - ABCA4_000032 - PubMed: Light 2017 - - Unknown - - - - - DNA ? - - retinal disease P23 PubMed: Light 2017 - F ? United States white - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.Thr1253Met Heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3880-4727 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.Thr1253Met Heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5056-7010 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.T1253M heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6070-626 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.Thr1253Met Heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA SEQ - - retinal disease 765-1314 PubMed: Goetz 2020 765 is a family member of 764 - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.Thr1253Met heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 95-769 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T - ABCA4_000032 - PubMed: Bernstein 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Bernstein 2016 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu]) - ABCA4_000032 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3509 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T,p.Thr1253Met - ABCA4_000032 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14059 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A c.[3758C>T;5882G>A] - ABCA4_000032 - PubMed: Fadaie 2019 - - Unknown - - - - - DNA MIPsm, SEQ - - retinal disease C PubMed: Fadaie 2019 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T p.Thr1253Met het - ABCA4_000032 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-208-028 Prevention Genetics - - ? - England;Russia;Germany - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.Thr1253Met Heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1611-2171 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.Thr1253Met Heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3223-3961 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.Thr1253Met Heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4722-5730 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A c.3758C>T, p.Thr1253Met Heterozygous - ABCA4_000032 - PubMed: Goetz 2020 - - Unknown - 37, 121234, 1, 0.0003052 - - - DNA SEQ - - retinal disease 4944-5982 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.3758C>T r.(?) p.(Thr1253Met) Unknown - likely pathogenic g.94502756G>A g.94037200G>A ABCA4 c.3758C>T, p.Thr1253Met - ABCA4_000032 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 001-161 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.3758C>T r.(?) p.(Thr1253Met) Unknown ACMG likely pathogenic g.94502756G>A g.94037200G>A ABCA4 c.3758C>T, p.(Thr1253Met) - ABCA4_000032 heterozygous PubMed: Buhler 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood Trusight One retinal disease 5/II.2 PubMed: Buhler 2021 Family 5, individual II.2 ? - Switzerland - - - - - 1 LOVD
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #2 ACMG VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat31 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown ACMG VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat151 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown ACMG VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat175 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Parent #2 ACMG VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat243 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. 25 c.3758C>T r.(?) p.(Thr1253Met) Unknown ACMG VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat282 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. - c.3758C>T r.(?) p.(Thr1253Met) Parent #1 - VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0476 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-83 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-183 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.3758C>T r.(?) p.(Thr1253Met) Unknown - VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-266 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.3758C>T r.(?) p.(Thr1253Met) Maternal (confirmed) ACMG VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 ACMG PM2, PP2, BP6 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-407 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.3758C>T r.(?) p.(Thr1253Met) Unknown ACMG VUS g.94502756G>A g.94037200G>A - - ABCA4_000032 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-461 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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