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.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

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+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic g.94508353G>A g.94042797G>A R1097C - ABCA4_000141 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline - ExAC 4, 121358, 0, 0.00003296 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - F ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Maternal (confirmed) - likely pathogenic g.94508353G>A g.94042797G>A R1098C - ABCA4_000141 - PubMed: Fumagalli 2001 - - Germline - ExAC 4, 121358, 0, 0.00003296 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - likely pathogenic g.94508353G>A g.94042797G>A R1097C - ABCA4_000141 - PubMed: Paloma 2002 - - Germline ? ExAC 4, 121358, 0, 0.00003296 - - - DNA PCR, SEQ, PCRdig - - ? - PubMed: Paloma 2002 - M ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Maternal (confirmed) - likely pathogenic g.94508353G>A g.94042797G>A R1097C - ABCA4_000141 - PubMed: Paloma 2002 - - Germline yes ExAC 4, 121358, 0, 0.00003296 - - - DNA PCR, SEQ, PCRdig - - STGD1 - PubMed: Paloma 2002 - M ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Maternal (confirmed) - likely pathogenic g.94508353G>A g.94042797G>A R1097C - ABCA4_000141 - PubMed: Paloma 2002 - - Germline yes ExAC 4, 121358, 0, 0.00003296 - - - DNA PCR, SEQ, PCRdig - - STGD1 - PubMed: Paloma 2002 - F ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Maternal (confirmed) - likely pathogenic g.94508353G>A g.94042797G>A R1097C - ABCA4_000141 - PubMed: Paloma 2002 - - Germline yes ExAC 4, 121358, 0, 0.00003296 - - - DNA PCR, SEQ, PCRdig - - STGD1 - PubMed: Paloma 2002 - M ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - VUS g.94508353G>A g.94042797G>A c.3292C>T - ABCA4_000141 - PubMed: Rosenberg 2007 - - Germline - 4, 121358, 0, 0.00003296 - - - 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
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic g.94508353G>A g.94042797G>A R1098C/L1970F - ABCA4_000141 - PubMed: Passerini 2010 - - Germline - 4, 121358, 0, 0.00003296 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - likely pathogenic g.94508353G>A g.94042797G>A R1098C - ABCA4_000141 - PubMed: Testa 2012 - - Germline ? 4, 121358, 0, 0.00003296 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - likely pathogenic g.94508353G>A g.94042797G>A Arg1098Cys - ABCA4_000141 - PubMed: Oldani 2012 - - Germline - 4, 121358, 0, 0.00003296 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - likely pathogenic g.94508353G>A g.94042797G>A c.3292C>T - ABCA4_000141 - PubMed: Riveiro-Alvarez 2013 - - Germline - 4, 121358, 0, 0.00003296 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic g.94508353G>A g.94042797G>A c.3292C>T - ABCA4_000141 - PubMed: Riveiro-Alvarez 2013 - - Germline - 4, 121358, 0, 0.00003296 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - VUS g.94508353G>A g.94042797G>A c.3292C>T - ABCA4_000141 - PubMed: Riveiro-Alvarez 2013 - - Germline - 4, 121358, 0, 0.00003296 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - likely pathogenic g.94508353G>A g.94042797G>A c.3292C>T - ABCA4_000141 - PubMed: Fujinami 2013 - - Germline - 4, 121358, 0, 0.00003296 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic g.94508353G>A g.94042797G>A R1098C - ABCA4_000141 - PubMed: Cideciyan 2009 - - Germline yes 4, 121358, 0, 0.00003296 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(3292c>u) p.(Arg1098Cys) Parent #1 ACMG pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 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.3292C>T r.(?) p.(Arg1098Cys) Parent #1 - likely pathogenic g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 793 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Parent #1 - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.Arg1098Cys - ABCA4_000141 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 81 PubMed: Cideciyan 2015 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.(R1098C) - ABCA4_000141 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 448 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T (p.Arg1098Cys) - ABCA4_000141 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3160 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T (p.Arg1098Cys) - ABCA4_000141 no variant 2nd chromosome PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 9066 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Parent #2 - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T Arg1098Cys CGC>TGC - ABCA4_000141 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 793 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A Het NM_000350.2: c.3292C>T; - ABCA4_000141 no variant 2nd chromosome PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 27 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T,p.Arg1098Cys - ABCA4_000141 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14077 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.(Arg1098Cys) - ABCA4_000141 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0051 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.(Arg1098Cys) - ABCA4_000141 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1193 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.(Arg1098Cys) - ABCA4_000141 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 24 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T, p.Arg1098Cys Heterozygous - ABCA4_000141 - PubMed: Goetz 2020 - - Unknown - 4, 121358, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3643-5329 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T (p.Arg1098Cys) - ABCA4_000141 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9015 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T (p.Arg1098Cys) - ABCA4_000141 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3771 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T,p.Arg1098Cys - ABCA4_000141 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13054 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T,p.Arg1098Cys - ABCA4_000141 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13080 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.(Arg1098Cys) - ABCA4_000141 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC01301 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.(Arg1098Cys) - ABCA4_000141 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC09999 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Parent #2 - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.(Arg1098Cys) - ABCA4_000141 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1077 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T p.(Arg1098Cys) - ABCA4_000141 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-312-735 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T/p.R1098C - ABCA4_000141 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 234 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T/p.R1098C - ABCA4_000141 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 269 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T, p.Arg1098Cys Heterozygous - ABCA4_000141 - PubMed: Goetz 2020 - - Unknown - 4, 121358, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1668-2231 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A c.3292C>T, p.Arg1098Cys Heterozygous - ABCA4_000141 - PubMed: Goetz 2020 - - Unknown - 4, 121358, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3448-4201 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A - c.3292C>T - ABCA4_000141 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70736 PubMed: Khan 2020 - M - Czech Republic - - - - - 1 LOVD
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Paternal (confirmed) ACMG pathogenic (recessive) g.94508353G>A - - - ABCA4_000141 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#9 Bianco 2023, submitted - F no Italy Romanian - - - - 1 Lorenzo Bianco
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Maternal (inferred) ACMG pathogenic (recessive) g.94508353G>A - - - ABCA4_000141 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#29 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+?/. 22 c.3292C>T r.(?) p.(Arg1098Cys) Maternal (inferred) ACMG pathogenic (recessive) g.94508353G>A - - - ABCA4_000141 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#29 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Parent #1 - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0302 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0398 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0284 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0316 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0491 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0582 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-42 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-98 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-289 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown - pathogenic (recessive) g.94508353G>A g.94042797G>A - - ABCA4_000141 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-256 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.3292C>T r.(?) p.(Arg1098Cys) Unknown ACMG VUS g.94508353G>A g.94042797G>A - - ABCA4_000141 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 079819 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 22 c.3292C>T r.(3292c>u) p.(Arg1098Cys) Parent #1 ACMG likely pathogenic g.94508353G>A g.94042797G>A - - ABCA4_000141 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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