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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DNA change (hg38)     

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ClinVar ID     

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?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #1 - VUS g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Chen 2013 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - STGD1 - PubMed: Chen 2013 3-generation family, 2 affected ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - pathogenic g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Riveiro-Alvarez 2013 - - Germline - 2, 121380, 0, 0.00001648 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic g.94463583A>G g.93998027A>G c.6563 T>C - ABCA4_000806 - PubMed: Zaneveld 2015 - - Germline - 2, 121380, 0, 0.00001648 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - pathogenic g.94463583A>G g.93998027A>G c.6563 T>C - ABCA4_000806 - PubMed: Zaneveld 2015 - - Germline - 2, 121380, 0, 0.00001648 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Maternal (confirmed) - pathogenic g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Xin 2015 - - Germline - 2, 121380, 0, 0.00001648 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 - M ? China ? - - - - 1 Stéphanie Cornelis
+/. 48 c.6563T>C r.(6563u>c) p.(Phe2188Ser) Parent #1 ACMG pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Both (homozygous) - likely pathogenic g.94463583A>G g.93998027A>G - - ABCA4_000806 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M yes Israel Arab-Muslim - - - - 1 Dror Sharon
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Maternal (confirmed) - likely pathogenic g.94463583A>G g.93998027A>G - - ABCA4_000806 - Sharon, submitted - - Germline - - - - - DNA SEQ - - maculopathy - Sharon, submitted - F no Israel Arab-Muslim - - - - 1 Dror Sharon
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Paternal (confirmed) - likely pathogenic g.94463583A>G g.93998027A>G - - ABCA4_000806 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M no Israel Arab-Muslim - - - - 3 Dror Sharon
?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #1 - VUS g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P10 PubMed: Hu 2019 - F yes China Asian - - yes none 1 Fangyuan Hu
?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - VUS g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P34 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - VUS g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P43 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - VUS g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P47 PubMed: Hu 2019 - M ? China Asian - - no none 1 Fangyuan Hu
?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #1 - VUS g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P59 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #1 - VUS g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG - gene panel STGD1 P75 PubMed: Hu 2019 - F ? China Asian - - - none 1 Fangyuan Hu
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Unknown ACMG pathogenic g.94463583A>G - - - ABCA4_000806 - PubMed: Sharon 2019 - - Germline - 6/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 6 IRD families - - Israel - - - - - 6 Global Variome, with Curator vacancy
+?/. - c.6563T>C r.(?) p.(Phe2188Ser) Unknown ACMG likely pathogenic g.94463583A>G - - - ABCA4_000806 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 9289 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+?/. - c.6563T>C r.(?) p.(Phe2188Ser) Unknown ACMG likely pathogenic g.94463583A>G - - - ABCA4_000806 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 2264-1 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+?/. - c.6563T>C r.(?) p.(Phe2188Ser) Unknown ACMG likely pathogenic g.94463583A>G - - - ABCA4_000806 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 2264-2 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+?/. - c.6563T>C r.(?) p.(Phe2188Ser) Unknown ACMG likely pathogenic g.94463583A>G - - - ABCA4_000806 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 8442 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+?/. - c.6563T>C r.(?) p.(Phe2188Ser) Unknown ACMG likely pathogenic g.94463583A>G - - - ABCA4_000806 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 3503 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10094 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 no variant 2nd chromosome; no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10070 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1036 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1037 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1038 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1039 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1040 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1041 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P10 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P59 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P75 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A002 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A014 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A040 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Maternal (confirmed) - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563 T>C p.(Phe2188Ser) Exon48 Het - ABCA4_000806 - PubMed: Hu 2020 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease F9:?:1 PubMed: Hu 2020 - M no China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #1 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.[6563T>C; 4283C>T] p.[(Phe2188Ser; Thr1428Met)] - ABCA4_000806 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-304-709 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1166 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G NM_000350.2:c.6563T>C - ABCA4_000806 - PubMed: Wang 2018 - - Unknown - - - - - DNA SEQ-NG-I - panel retinal disease 2016112808 PubMed: Wang 2018 - M ? China Han - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563A>G p.(Phe2188Ser) - ABCA4_000806 - PubMed: Wang 2019 - - Unknown - - - - - DNA SEQ-NG-I - OTSP retinal disease #14863 PubMed: Wang 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Both (homozygous) - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease S33 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10047 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10051 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #1 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10064 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10086 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10098 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10108 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10129 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10133 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10143 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Parent #1 - likely pathogenic (recessive) g.94463583A>G g.93998027A>G p.F2188S - ABCA4_000806 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10162 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P34 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P43 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C - ABCA4_000806 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P47 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Maternal (confirmed) - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563 T>C p.(Phe2188Ser) Exon48 Het - ABCA4_000806 - PubMed: Hu 2020 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease F2:?:1 PubMed: Hu 2020 - M no China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1966 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3503 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4901 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8442 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9289 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2264-1 PubMed: Sun 2020 likely a sibling of patient 2264-2 F ? China China - - - - 1 Stéphanie Cornelis
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G g.93998027A>G c.6563T>C p.(Phe2188Ser) - ABCA4_000806 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2264-2 PubMed: Sun 2020 likely a sibling of patient 2264-1 F ? China China - - - - 1 Stéphanie Cornelis
+/. - c.6563T>C r.(6563u>c) p.(Phe2188Ser) Maternal (inferred) ACMG pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 no variant 2nd chromosome PubMed: Tian 2022, PubMed: Tian 2024 - - Germline ? - - - - DNA SEQ-NG-I - - STGD1 010070 PubMed: Tian 2022, PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G - c.6563T>C - ABCA4_000806 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G - c.6563T>C - ABCA4_000806 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 48 c.6563T>C r.(?) p.(Phe2188Ser) Unknown - likely pathogenic (recessive) g.94463583A>G - c.6563T>C - ABCA4_000806 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - Lu Tian, submitted 2022 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - Lu Tian, submitted 2022 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6563T>C r.(?) p.(Phe2188Ser) Parent #2 - pathogenic (recessive) g.94463583A>G g.93998027A>G - - ABCA4_000806 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
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