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     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

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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Age at death     

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Owner     
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T IVS20+5G>A - ABCA4_000144 - PubMed: Rivera 2000 - - Germline - ExAC 2, 121386, 0, 0.00001648 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T IVS20+5G>A - ABCA4_000144 - PubMed: Rivera 2000 - - Germline - ExAC 2, 121386, 0, 0.00001648 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 20i c.3050+5G>A r.spl p.? Unknown - pathogenic g.94510164C>T g.94044608C>T IVS20+5G>A - ABCA4_000144 - PubMed: Rivera 2000 - - Germline yes ExAC 2, 121386, 0, 0.00001648 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
-?/. 20i c.3050+5G>A r.spl p.? Maternal (confirmed) - likely benign g.94510164C>T g.94044608C>T 3050+5G>A - ABCA4_000144 - PubMed: Shroyer 2001 - - Germline - ExAC 2, 121386, 0, 0.00001648 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T IVS20+ 5G>A - ABCA4_000144 - PubMed: Cella 2009, PubMed: Nõupuu 2014 - - Germline - 2, 121386, 0, 0.00001648 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Cella 2009, PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T IVS20+ 5G>A - ABCA4_000144 - PubMed: Cella 2009, PubMed: Nõupuu 2014 - - Germline - 2, 121386, 0, 0.00001648 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Cella 2009, PubMed: Nõupuu 2014 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T IVS20+5 G>A - ABCA4_000144 - PubMed: Schindler 2010 - - Germline ? 2, 121386, 0, 0.00001648 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T IVS20+5G>A - ABCA4_000144 - PubMed: Chen 2011 - - Germline - 2, 121386, 0, 0.00001648 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Chen 2011 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 - PubMed: Nõupuu 2014 - - Germline - 2, 121386, 0, 0.00001648 - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 - PubMed: Duncker 2015 - - Germline ? 2, 121386, 0, 0.00001648 - - - DNA PE, SEQ, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - M ? - White - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 - PubMed: Duncker 2015 - - Germline ? 2, 121386, 0, 0.00001648 - - - DNA PE, SEQ, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 - PubMed: Duncker 2015 - - Germline ? 2, 121386, 0, 0.00001648 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.spl p.? Unknown - likely pathogenic g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 - PubMed: Duncker 2015 - - Germline ? 2, 121386, 0, 0.00001648 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - white - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.Leu973_His1017delinsPhe Parent #1 ACMG likely pathogenic (recessive) g.94510164C>T g.94044608C>T - - ABCA4_000144 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 20i c.3050+5G>A r.spl? p.? Both (homozygous) - pathogenic g.94510164C>T g.94044608C>T - - ABCA4_000144 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - M no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. 20i c.3050+5G>A r.spl? p.? Maternal (confirmed) - pathogenic g.94510164C>T g.94044608C>T - - ABCA4_000144 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M no Israel Bulgaria;Jewish - - - - 1 Dror Sharon
+/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - NA g.94510164C>T g.94044608C>T - - ABCA4_000144 expression cloning midigene splicing construct: no correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3050+5G>A r.spl p.? Unknown ACMG pathogenic g.94510164C>T - - - ABCA4_000144 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. - c.3050+5G>A r.spl p.? Unknown ACMG pathogenic g.94510164C>T - - - ABCA4_000144 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. - c.3050+5G>A r.spl p.? Unknown ACMG pathogenic g.94510164C>T - - - ABCA4_000144 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. 20i c.3050+5G>A r.spl? p.? Unknown ACMG pathogenic g.94510164C>T - - - ABCA4_000144 - Mena et al., 2020 submitted - rs61751262 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T IVS20+5G>A - ABCA4_000144 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 9 PubMed: Burke 2011 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Parent #1 - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.[3050+5G>A]; - ABCA4_000144 - PubMed: Sparrow 2015 - - Unknown yes - - - - DNA PE, SEQ-NG - APEX retinal disease 14* PubMed: Sparrow 2015 - M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Parent #1 - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A (p.?) - ABCA4_000144 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3343 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Parent #1 - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A (p.?) - ABCA4_000144 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3594 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A (p.?) - ABCA4_000144 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3708 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A (p.?) - ABCA4_000144 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4385 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Parent #1 - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A (p.?) - ABCA4_000144 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 5180 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Parent #1 - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A (p.?) - ABCA4_000144 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3523 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 13 PubMed: Paavo 2018 - - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A p.(?) - ABCA4_000144 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7 PubMed: Lee 2018 - M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 803 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 804 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 805 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 806 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 807 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 808 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 809 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 810 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 811 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A IVS20+5G>A - ABCA4_000144 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1202 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.IVS20+5G>A, Heterozygous - ABCA4_000144 - PubMed: Goetz 2020 - - Unknown - 2, 121386, 0, 0.00001648 - - - DNA SEQ - - retinal disease 1357-1894 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.IVS20+5G>Ac.3050+5G>A, Heterozygous - ABCA4_000144 - PubMed: Goetz 2020 - - Unknown - 2, 121386, 0, 0.00001648 - - - DNA SEQ - - retinal disease 2026-3531 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A, heterozygous - ABCA4_000144 - PubMed: Goetz 2020 - - Unknown - 2, 121386, 0, 0.00001648 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 763-1314 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A - ABCA4_000144 - PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 17 PubMed: Duncker 2014 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Parent #2 - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A p.(Leu973_His1017delinsPhe) - ABCA4_000144 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0954 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.IVS20+5G>A, Heterozygous - ABCA4_000144 - PubMed: Goetz 2020 - - Unknown - 2, 121386, 0, 0.00001648 - - - DNA SEQ - - retinal disease 193-1572 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T c.3050+5G>A, Heterozygous - ABCA4_000144 - PubMed: Goetz 2020 - - Unknown - 2, 121386, 0, 0.00001648 - - - DNA SEQ-NG-I - solid state SBS retinal disease 299-1682 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 20i c.3050+5G>A r.2919_3050del p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic g.94510164C>T g.94044608C>T ABCA4 IVS20 c.3050+5G>A p.(Leu973_His1017delinsPhe), Ex.23 c.3386G>T p.(Arg1129Leu) - ABCA4_000144 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2711 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. 20i c.3050+5G>A r.spl p.Leu973_His1017delinsPhe Parent #1 ACMG pathogenic (recessive) g.94510164C>T g.94044608C>T - - ABCA4_000144 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat21 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 20i c.3050+5G>A r.spl p.Leu973_His1017delinsPhe Parent #1 ACMG likely pathogenic (recessive) g.94510164C>T g.94044608C>T - - ABCA4_000144 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat26 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 20i c.3050+5G>A r.spl p.Leu973_His1017delinsPhe Parent #1 ACMG likely pathogenic (recessive) g.94510164C>T g.94044608C>T - - ABCA4_000144 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat31 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 20i c.3050+5G>A r.spl p.Leu973_His1017delinsPhe Parent #1 ACMG likely pathogenic (recessive) g.94510164C>T g.94044608C>T - - ABCA4_000144 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat155 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 20i c.3050+5G>A r.spl p.Leu973_His1017delinsPhe Unknown ACMG pathogenic (recessive) g.94510164C>T g.94044608C>T - - ABCA4_000144 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat175 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 20I c.3050+5G>A r.spl p.Leu973_His1017delinsPhe Parent #1 ACMG likely pathogenic (recessive) g.94510164C>T g.94044608C>T - - ABCA4_000144 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat285 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. - c.3050+5G>A r.(2919_3050del) p.(Leu973_His1017delinsPhe) Unknown - likely pathogenic (recessive) g.94510164C>T g.94044608C>T - - ABCA4_000144 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-292 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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