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.

91 entries on 1 page. Showing entries 1 - 91.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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+/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Paternal (inferred) - pathogenic g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 - PubMed: Xin 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 3-generation family, 3 affected M ? China ? - - - - 1 Stéphanie Cornelis
+/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Paternal (inferred) - pathogenic g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 - PubMed: Xin 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 3-generation family, 3 affected F ? China ? - - - - 1 Stéphanie Cornelis
+/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Maternal (confirmed) - pathogenic g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 - PubMed: Xin 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 2-generation family, 2 affected F ? China ? - - - - 1 Stéphanie Cornelis
+/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Maternal (confirmed) - pathogenic g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 - PubMed: Xin 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 2-generation family, 2 affected F ? China ? - - - - 1 Stéphanie Cornelis
+?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Maternal (confirmed) - likely pathogenic g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 - PubMed: Xin 2015 - - Germline yes - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 - F yes China ? - - - - 1 Stéphanie Cornelis
+/. 2 c.101_106del r.(101_106del) p.(Ser34_Leu35del) Parent #1 ACMG pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del - - ABCA4_000249 not statistically tested, classification unknown PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 - PubMed: Hu 2019 - - - China - - - - - 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P12 PubMed: Hu 2019 - M no China Asian - - yes none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P20 PubMed: Hu 2019 - F no China Asian - - yes none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P23 PubMed: Hu 2019 - M no China Asian - - yes none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P25 PubMed: Hu 2019 - F no China Asian - - yes none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel - P26 PubMed: Hu 2019 - F no China Asian - - yes none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P28 PubMed: Hu 2019 - M no China Asian - - yes none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P39 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P48 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - 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
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG - gene panel STGD1 P60 PubMed: Hu 2019 - F - China Asian - - no none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P63 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P82 PubMed: Hu 2019 - F ? China Asian - - - none 1 Fangyuan Hu
+?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - likely pathogenic g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - - - - Germline yes - - - - DNA SEQ-NG blood - STGD1 161 - - M yes China - >32y - - - 1 Handong Dan
?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P24 PubMed: Hu 2019 - M - China - - - - - 1 Fangyuan Hu
+?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Paternal (confirmed) other pathogenic (recessive) g.94578589_94578594del - 101_106delCTTTAT - ABCA4_000249 - - - rs745925619 Germline yes - - - - DNA SEQ-NG peripheral blood gene panel STGD1 F2:Ⅱ:1 - - M no China Asian >31y - yes none 1 Fangyuan Hu
+?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Maternal (confirmed) other pathogenic (recessive) g.94578589_94578594del - 101_106delCTTTAT - ABCA4_000249 - - - rs745925619 Germline yes - - - - DNA SEQ-NG peripheral blood gene panel STGD1 F12:Ⅱ:1 - - M no China Asian >16y - yes none 1 Fangyuan Hu
+?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Paternal (confirmed) ACMG likely pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del - - ABCA4_000249 - Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - - CORD 2217 Zixi Sun 2020, submitted family, 3 affected M - China - - - - - 3 Zixi Sun
+?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) ACMG likely pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del - - ABCA4_000249 - Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel STGD 8640 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Unknown ACMG likely pathogenic g.94578589_94578594del g.94113033_94113038del - - ABCA4_000249 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 6135 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Maternal (confirmed) ACMG pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del - - ABCA4_000249 - - - - Unknown - - - - - DNA SEQ-NG - gene panel STGD1 B8 - - M no China - >12y - yes none 1 Qing Zhu
+?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - likely pathogenic g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT (Leu34_Tyr35del) - ABCA4_000249 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP074 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - VUS g.94578589_94578594del g.94113033_94113038del p.S34-L35del - ABCA4_000249 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10035 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - VUS g.94578589_94578594del g.94113033_94113038del p.S34-L35del - ABCA4_000249 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10074 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del p.S34-L35del - ABCA4_000249 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10084 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - VUS g.94578589_94578594del g.94113033_94113038del p.S34-L35del - ABCA4_000249 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 19156 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - VUS g.94578589_94578594del g.94113033_94113038del p.S34-L35del - ABCA4_000249 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10041 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del p.S34-L35del - ABCA4_000249 no variant 2nd chromosome; no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10174 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del (p.Ser34_Leu35delfs) - ABCA4_000249 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3220 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P39 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P48 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Dan 2019 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease 161 PubMed: Dan 2019 - M yes China Han - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - - ABCA4_000249 no variant 2nd chromosome PubMed: Gao 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1229 PubMed: Gao 2019 variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well. - ? - - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F13 P14 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F24 P27 PubMed: Sung 2020 sibling of P28 - ? - Han - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F24 P28 PubMed: Sung 2020 sibling of P27 - ? - Han - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Paternal (confirmed) - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2217 PubMed: Sun 2020 grandson of 2217-2, this allele is inherited from the other side of the family M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3951 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4736 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6135 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8640 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - VUS g.94578589_94578594del g.94113033_94113038del p.S34-L35del - ABCA4_000249 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10165 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - VUS g.94578589_94578594del g.94113033_94113038del p.I1074L;p.S34-L35del - ABCA4_000249 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10168 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P12 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P20 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P23 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P24 PubMed: Hu 2019 Likely sibling of P25 M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P25 PubMed: Hu 2019 Likely sibling of P24 F ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P28 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P48 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P59 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P60 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P63 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT - ABCA4_000249 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P82 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106del - ABCA4_000249 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A009 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-304-709 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT (P.Leu34_Tyr35del) - ABCA4_000249 - PubMed: Huang 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP074 PubMed: Huang 2018 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Hu 2020 - - Unknown - - - - - DNA arraySEQ - Target_Eye_792_V2 chip retinal disease F2:II:1 PubMed: Hu 2020 - M ? China Han - - - - 1 Stéphanie Cornelis
?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - VUS g.94578589_94578594del g.94113033_94113038del c.101_106delCTTTAT p.(Ser34_Leu35del) - ABCA4_000249 - PubMed: Hu 2020 - - Unknown - - - - - DNA arraySEQ - Target_Eye_792_V2 chip retinal disease F12:II:1 PubMed: Hu 2020 - M ? China Han - - - - 1 Stéphanie Cornelis
+/. - c.101_106del r.(101_106del) p.(Ser34_Leu35del) Unknown ACMG pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 010174 PubMed: Tian 2022, PubMed: Tian 2024 - M no China - - - - - 1 Lu Tian
+/. - c.101_106del r.(101_106del) p.(Ser34_Leu35del) Maternal (confirmed) ACMG pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 010705 PubMed: Tian 2022, PubMed: Tian 2024 - F no China - - - - - 1 Lu Tian
+?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - likely pathogenic (recessive) g.94578583_94578588del - c.101_106delTTTAT - ABCA4_000249 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 2 c.101_106del r.(?) p.(Ser34_Leu35del) Unknown - likely pathogenic (recessive) g.94578583_94578588del - c.101_106delCTTTAT - ABCA4_000249 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Unknown ACMG likely pathogenic g.94578589_94578594del g.94113033_94113038del ABCA4 c.[101_106del];[?], V1: c.101_106delCTTTAT, (p.Ser34_Leu35del) - ABCA4_000249 single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F054 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Unknown ACMG likely pathogenic g.94578589_94578594del g.94113033_94113038del ABCA4 c.101_106del(;)1804C>T, V2: c.101_106delCTTTAT, (p.Ser34_Leu35del) - ABCA4_000249 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F119 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.101_106del r.(?) p.(Ser34_Leu35del) Unknown ACMG likely pathogenic g.94578589_94578594del g.94113033_94113038del ABCA4 c.101_106del(;)5761G>A, V2: c.101_106delCTTTAT, (p.Ser34_Leu35del) - ABCA4_000249 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F266 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Groselj 2012 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Both (homozygous) - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #1 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.101_106del r.(?) p.(Ser34_Leu35del) Parent #2 - pathogenic (recessive) g.94578589_94578594del g.94113033_94113038del 101_106delCTTTAT - ABCA4_000249 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 010436 PubMed: Tian 2022, PubMed: Tian 2024 - F no China - - - - - 1 Lu Tian
+?/. - c.101_106delCTTTAT r.(?) p.(Ser34_Leu35del) Unknown - likely pathogenic g.94578589_94578594del g.94113033_94113038del ABCA4 c.[101_106del];[?]; p.(Ser34_Leu35del) - ABCA4_000249 heterozygous; single variant in a recessive gene, no second allele found PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.000334; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000199 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F054 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.101_106delCTTTAT r.(?) p.(Ser34_Leu35del) Unknown - likely pathogenic g.94578589_94578594del g.94113033_94113038del ABCA4 c.101_106del(;)1804C>T; p.(Ser34_Leu35del) - ABCA4_000249 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000334; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000199 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F119 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.101_106delCTTTAT r.(?) p.(Ser34_Leu35del) Unknown - likely pathogenic g.94578589_94578594del g.94113033_94113038del ABCA4 c.101_106del(;)5761G>A; p.(Ser34_Leu35del) - ABCA4_000249 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000334; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000199 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F266 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
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