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.

89 entries on 1 page. Showing entries 1 - 89.
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?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - CORD3 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Both (homozygous) - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C CTG > CGG - ABCA4_000092 - PubMed: Briggs 2001 - - Germline ? ExAC 879, 64452, 44, 0.01364 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 3 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C CTG > CGG - ABCA4_000092 - PubMed: Briggs 2001 - - Germline ? ExAC 879, 64452, 44, 0.01364 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 071-003; 2-generation family, 3 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C CTG > CGG - ABCA4_000092 - PubMed: Briggs 2001 - - Germline ? ExAC 879, 64452, 44, 0.01364 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 071-003; 2-generation family, 3 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C 3602T→G - ABCA4_000092 - PubMed: Yatsenko 2001 - - Germline - ExAC 879, 64452, 44, 0.01364 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected M ? United States African American - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C Leu1201Arg - ABCA4_000092 - PubMed: Fishman 2003 - - Germline - ExAC 879, 64452, 44, 0.01364 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - M ? - African American - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C Leu1201Arg - ABCA4_000092 - PubMed: Fishman 2003 - - Germline - ExAC 879, 64452, 44, 0.01364 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - M ? - African American - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C Leu1201Arg - ABCA4_000092 - PubMed: Michaelides 2007 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Michaelides 2007 4-generation family, 3 affected M ? Uganda ? - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C Leu1201Arg - ABCA4_000092 - PubMed: Michaelides 2007 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Michaelides 2007 4-generation family, 3 affected F ? Uganda ? - - - - 1 Stéphanie Cornelis
-?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely benign g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Maia-Lopes 2009 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C leu1201arg - ABCA4_000092 - PubMed: Genead 2009 - - Germline ? 879, 64452, 44, 0.01364 - - - DNA PCR, PE, SSCA, SEQ - APEX STGD1 - PubMed: Genead 2009 - F ? - African American - - - - 1 Stéphanie Cornelis
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C Leu1201Arg CTG>CGG - ABCA4_000092 - PubMed: Schindler 2010 - - Germline ? 879, 64452, 44, 0.01364 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C Leu1201Arg CTG>CGG - ABCA4_000092 - PubMed: Schindler 2010 - - Germline - 879, 64452, 44, 0.01364 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
-?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely benign g.94505604A>C g.94040048A>C Leu1201Arg CTG>CGG - ABCA4_000092 - PubMed: Schindler 2010 - - Germline - 879, 64452, 44, 0.01364 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Zernant 2011 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Zernant 2011 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg - ABCA4_000092 - PubMed: Roberts 2012 - - Germline - 879, 64452, 44, 0.01364 - - - 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
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg - ABCA4_000092 - PubMed: Roberts 2012 - - Germline - 879, 64452, 44, 0.01364 - - - 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
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg - ABCA4_000092 - PubMed: Roberts 2012 - - Germline - 879, 64452, 44, 0.01364 - - - 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
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg - ABCA4_000092 - PubMed: Roberts 2012 - - Germline - 879, 64452, 44, 0.01364 - - - 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
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C 3602T>G - ABCA4_000092 - PubMed: Downes 2012 - - Germline ? 879, 64452, 44, 0.01364 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Fujinami 2013 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Fujinami 2013 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Fujinami 2013 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - pathogenic g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Fujinami 2013 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Fujinami 2013 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C c.3602T>G - ABCA4_000092 - PubMed: Fujinami 2013 - - Germline - 879, 64452, 44, 0.01364 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely pathogenic g.94505604A>C g.94040048A>C L1201R - ABCA4_000092 - PubMed: Cideciyan 2009 - - Germline ? 879, 64452, 44, 0.01364 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
-?/. 24 c.3602T>G r.(3602u>g) p.(Leu1201Arg) Parent #1 ACMG likely benign g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely benign g.94505604A>C g.94040048A>C ABCA4(NM_000350.3):c.3602T>G (p.L1201R) - ABCA4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/-? 24 c.3602T>G r.(?) p.(Leu1201Arg) Paternal (inferred) - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Nassisi 2018 - - Germline - - - - - DNA SEQ - - STGD1 30060493-Fam4412PatCIC07895 PubMed: Nassisi 2018 - F no Guadeloupe - >17y - - - 1 Marco Nassisi
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Parent #1 - VUS g.94505604A>C g.94040048A>C - - ABCA4_000092 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-/. - c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C ABCA4(NM_000350.3):c.3602T>G (p.L1201R) - ABCA4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Parent #1 - likely pathogenic g.94505604A>C - T3602G - ABCA4_000092 - PubMed: Mandal 2005 - - Germline - - - - - DNA arraySEQ blood - retinal disease - PubMed: Mandal 2005 - - - - - - - - - 1 Julia Lopez
?/. - c.3602T>G r.(?) p.(Leu1201Arg) Unknown - VUS g.94505604A>C g.94040048A>C 3602G>T - ABCA4_000092 - PubMed: Bryant 2018 - rs61750126 Germline - - - - - DNA SEQ-NG - WES retinal disease JB284 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.3602T>G r.(?) p.(Leu1201Arg) Parent #2 - likely pathogenic g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 763 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.3602T>G r.(?) p.(Leu1201Arg) Parent #2 - likely pathogenic g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 769 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G (p.L1201R - ABCA4_000092 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 1 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G (p.L1201R) - ABCA4_000092 no variant 2nd chromosome PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G (p.L1201R) - ABCA4_000092 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 3 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G p.(L1201R) - ABCA4_000092 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 455 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G,p.Leu1201Arg - ABCA4_000092 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17003 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G,p.Leu1201Arg - ABCA4_000092 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17023 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G# p.(Leu1201Arg) - ABCA4_000092 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67180 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G; p.Leu1201Arg - ABCA4_000092 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 12. PubMed: Piccardi 2019 - F ? Italy - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C T3602G Leu1201Arg - ABCA4_000092 - PubMed: Mandal 2005 - - Unknown - - - - - DNA arraySEQ - arRP-I chip retinal disease KE1246 PubMed: Mandal 2005 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Both (homozygous) - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Homozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1129-2602 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1166-2636 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1909-3396 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602 T>G CTG>CGG, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2013-3517 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2767-4374 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3119-3851 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3441-4225 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ - - retinal disease 3978-4844 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G / c.6119G>A Leu1201Arg CTG>CGG / Arg2040Gln CGA>CAA - ABCA4_000092 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 763 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Parent #2 - benign g.94505604A>C g.94040048A>C c.3602T>G Leu1201Arg CTG>CGG - ABCA4_000092 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 769 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G,p.Leu1201Arg - ABCA4_000092 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11004 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G,p.Leu1201Arg - ABCA4_000092 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12008 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G,p.Leu1201Arg - ABCA4_000092 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17006 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Parent #2 - benign g.94505604A>C g.94040048A>C c.3602T>G p.(Leu1201Arg) - ABCA4_000092 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC07744 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G p.(Leu1201Arg) - ABCA4_000092 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC07749 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Parent #2 - benign g.94505604A>C g.94040048A>C c.3602T>G p.(Leu1201Arg) - ABCA4_000092 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC07895 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Parent #2 - benign g.94505604A>C g.94040048A>C c.1927G>A (p.V643M) c.3602T>G (p.L1201R) - ABCA4_000092 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Wang 2014 - F ? United States - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G; p.Leu1201Arg c.6320G>A; p.Arg2107His - ABCA4_000092 - PubMed: van Huet 2015 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 1149 PubMed: van Huet 2015 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G/p.L1201R - ABCA4_000092 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 171 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1350-1917 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ - - retinal disease 236-1642 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2724-4301 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ - - retinal disease 334-1715 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3446-4229 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ - - retinal disease 358-1743 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.(Leu1201Arg) Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ - - retinal disease 3648-5364 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg Heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5220-6309 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 24 c.3602T>G r.(?) p.(Leu1201Arg) Unknown - benign g.94505604A>C g.94040048A>C c.3602T>G, p.Leu1201Arg heterozygous - ABCA4_000092 - PubMed: Goetz 2020 - - Unknown - 879, 64452, 44, 0.01364 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 820-1336 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. - c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely benign g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0036 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
-?/. - c.3602T>G r.(?) p.(Leu1201Arg) Parent #2 - likely benign g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0222 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
-?/. - c.3602T>G r.(?) p.(Leu1201Arg) Unknown - likely benign g.94505604A>C g.94040048A>C - - ABCA4_000092 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0534 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
-?/. - c.3602T>G r.(?) p.(Leu1201Arg) Parent #2 - likely benign g.94505604A>C g.94040048A>C - - ABCA4_000092 - 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
+?/. 24 c.3602T>G r.(3602u>g) p.(Leu1201Arg) Parent #1 ACMG likely pathogenic g.94505604A>C g.94040048A>C - - ABCA4_000092 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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