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.

102 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 36i c.5196+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.94485137C>T g.94019581C>T IVS36 + 1G > A - ABCA4_000464 - PubMed: Briggs 2001 - - Germline - ExAC 3, 49858, 0, 0.00006017 - - - DNA SSCA, SEQ - - CORD - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic g.94485137C>T g.94019581C>T 5196+1G>A, 2828G>A - ABCA4_000464 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - - Germline yes - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic g.94485137C>T g.94019581C>T 5196+1G>A, 2828G>A - ABCA4_000464 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - - Germline yes - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1G>A r.spl p.? Unknown - likely pathogenic g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - ExAC 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? - France ? - - - - 1 Stéphanie Cornelis
-?/. 36i c.5196+1G>A r.spl p.? Unknown - likely benign g.94485137C>T g.94019581C>T 5196+1G→A - ABCA4_000464 - PubMed: Yatsenko 2001 - - Germline - ExAC 3, 49858, 0, 0.00006017 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1G>A r.spl p.? Unknown - VUS g.94485137C>T g.94019581C>T 5196+1G→A - ABCA4_000464 - PubMed: Yatsenko 2001 - - Germline - ExAC 3, 49858, 0, 0.00006017 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Paternal (confirmed) - pathogenic g.94485137C>T g.94019581C>T 5196+1G>A - ABCA4_000464 - PubMed: Shroyer 2001 - - Germline - ExAC 3, 49858, 0, 0.00006017 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Paternal (confirmed) - pathogenic g.94485137C>T g.94019581C>T 5196+1G>A - ABCA4_000464 - PubMed: Shroyer 2001 - - Germline - ExAC 3, 49858, 0, 0.00006017 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1G>A r.spl p.? Unknown - likely pathogenic g.94485137C>T g.94019581C>T IVS36+1G>A - ABCA4_000464 - PubMed: Klevering 2002 - - Germline - ExAC 3, 49858, 0, 0.00006017 - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1G>A r.spl p.? Unknown - likely pathogenic g.94485137C>T g.94019581C>T IVS36+1G→A - ABCA4_000464 - PubMed: Gerth 2002 - - Germline ? ExAC 3, 49858, 0, 0.00006017 - - - DNA DGGE, DHPLC, SSCA - - ? - PubMed: Gerth 2002 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1G>A r.spl p.? Unknown - VUS g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 - PubMed: Kitiratschky 2008 - - Germline yes ExAC 3, 49858, 0, 0.00006017 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic g.94485137C>T g.94019581C>T c.5196+1 G>A - ABCA4_000464 - PubMed: Zaneveld 2015 - - Germline ? 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Paternal (confirmed) - pathogenic g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 - PubMed: Xin 2015 - - Germline ? 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 - F ? China ? - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1G>A r.spl p.? Unknown - likely pathogenic g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 - PubMed: Sciezynska 2015 - - Germline - 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 36i c.5196+1G>A r.spl p.? Paternal (inferred) - likely pathogenic g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 - PubMed: Duncker 2015 - - Germline - 3, 49858, 0, 0.00006017 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - white - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5196+1G>A r.spl? p.? Unknown - pathogenic g.94485137C>T g.94019581C>T - - ABCA4_000464 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 36i c.5196+1G>A r.spl p.? Parent #1 - pathogenic g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 36i c.5196+1G>A r.spl p.? Parent #1 - VUS g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG - gene panel STGD1 P51 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
+?/. - c.5196+1G>A r.spl p.? Parent #1 - likely pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5196+1G>A r.spl p.? Unknown ACMG pathogenic g.94485137C>T - - - ABCA4_000464 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5196+1G>A r.spl? p.? Unknown ACMG pathogenic g.94485137C>T - - - ABCA4_000464 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel RP19 1870 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.5196+1G>A r.spl? p.? Unknown ACMG pathogenic g.94485137C>T - - - ABCA4_000464 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 5463 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+/. - c.5196+1G>A r.spl p.? Parent #2 - pathogenic g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3632 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 no variant 2nd chromosome PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 9 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.(?) p.(?) Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T 36 IVS+1G >A - ABCA4_000464 no variant 2nd chromosome PubMed: Wiszniewski 2005 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease AR168-03 PubMed: Wiszniewski 2005 multiple family members affected - no United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A Splice - ABCA4_000464 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20027,1 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A Splice - ABCA4_000464 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20027,2 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A p.(?) - ABCA4_000464 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 505 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A (p.?) - ABCA4_000464 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9028 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A (p.?) - ABCA4_000464 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3187 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A (p.?) - ABCA4_000464 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3580 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A (p.?) - ABCA4_000464 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3938 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, splicesite alteration - ABCA4_000464 no variant 2nd chromosome PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14083 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A,Splicedonor - ABCA4_000464 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17037 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A p.(?) - ABCA4_000464 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67249 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 717 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 895 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P51 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A032 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A c.5882G>A - ABCA4_000464 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 5 PubMed: Wang 2014 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1C>T p.? - ABCA4_000464 - PubMed: Wang 2019 - - Unknown yes - - - - DNA SEQ-NG-I - OTSP retinal disease #13833 PubMed: Wang 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A/p.? - ABCA4_000464 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 634 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F28 P33 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A p.(?) - ABCA4_000464 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1870 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A p.(?) - ABCA4_000464 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5463 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A p.(?) - ABCA4_000464 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6905 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A Splicing het - ABCA4_000464 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-282-040 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A Splicing het - ABCA4_000464 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-087-107 Prevention Genetics - - ? - white, German, European, Irish - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG-I - solid state SBS retinal disease 109-785 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ - - retinal disease 5454-6591 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 19491 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94485137C>T g.94019581C>T p.[Arg1097*];c.[5196+1G>A] - ABCA4_000464 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 6 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A p.? - ABCA4_000464 - PubMed: Lin 2016 - - Unknown yes - - - - DNA SEQ-NG-I - WES retinal disease F4:II:1 PubMed: Lin 2016 - F no China China - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G.A - ABCA4_000464 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 28 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, splicesite alteration - ABCA4_000464 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12042 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, splicesite alteration - ABCA4_000464 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13101 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G.A (p.?) - ABCA4_000464 - PubMed: Collison 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 19 F5-I:1 PubMed: Collison 2019 - F ? United States white - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G.A (p.?) - ABCA4_000464 - PubMed: Collison 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 20 F5-I:2* PubMed: Collison 2019 - F ? United States white - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A - ABCA4_000464 - PubMed: Zenteno 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 3,632 PubMed: Zenteno 2019 - - ? Mexico Mexico - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A p.(?) - ABCA4_000464 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1041 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A r.spl - ABCA4_000464 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-022-055 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T NM_000350.2:c.5196+1G>A - ABCA4_000464 - PubMed: Wang 2018 - - Unknown - - - - - DNA SEQ-NG-I - panel retinal disease 2017010406 PubMed: Wang 2018 - M ? China Han - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ - - retinal disease 1349-1916 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2018-3522 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3943-4805 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ - - retinal disease 4498-5445 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4927-5995 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ - - retinal disease 4995-6044 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5523-6667 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T c.5196+1G>A, Heterozygous - ABCA4_000464 - PubMed: Goetz 2020 - - Unknown - 3, 49858, 0, 0.00006017 - - - DNA SEQ - - retinal disease 5772-7217 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36i c.5196+1G>A r.spl p.? Maternal (confirmed) ACMG pathogenic g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tracewska 2019 - - Germline yes 0,0001 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 286 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+/. 36i c.5196+1G>A r.spl p.? Both (homozygous) ACMG pathogenic g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tracewska 2019 - - Germline yes 0,0001 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 333 PubMed: Tracewska 2019 proband M yes Poland Slavic - - yes - 1 Anna Tracewska
+/. 36i c.5196+1G>A r.spl p.? Both (homozygous) ACMG pathogenic g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tracewska 2019 - - Germline yes 0,0001 (in-house database, ~5000 samples) - - - DNA RFLP buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 609 PubMed: Tracewska 2019 brother of 333 M yes Poland Slavic - - yes - 1 Anna Tracewska
+?/. 12 c.5196+1G>A r.spl p.? Paternal (confirmed) ACMG pathogenic g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tracewska 2019 - - Germline yes 0,0001 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 615 PubMed: Tracewska 2019 son of 373 M no Poland Slavic - - yes - 1 Anna Tracewska
+/. 36i c.5196+1G>A r.spl p.? Parent #2 ACMG pathogenic g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tracewska 2019 - - Germline yes 0,0001 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 397 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
?/. - c.5196+1G>A r.spl p.? Maternal (confirmed) - VUS g.94485137C>T g.94019581C>T ABCA4 c.5196+1G>A, - ABCA4_000464 no pathogenicity classification indicated PubMed: Ng 2021 - - Germline ? - - - - DNA SEQ blood whole exome sequencing retinal disease 1_II:4 PubMed: Ng 2021 Family 1, patient II:4 (proband) F no China - - - - - 1 LOVD
?/. - c.5196+1G>A r.spl p.? Maternal (confirmed) - VUS g.94485137C>T g.94019581C>T ABCA4 c.5196+1G>A, - ABCA4_000464 no pathogenicity classification indicated PubMed: Ng 2021 - - Germline ? - - - - DNA SEQ blood whole exome sequencing retinal disease 1_II:1 PubMed: Ng 2021 Family 1, patient II:1 (proband's older sister) F no China - - - - - 1 LOVD
+?/. 36i c.5196+1G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.94485137C>T - c.5196+1G>A - ABCA4_000464 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 36i c.5196+1G>A r.spl? p.? Unknown - pathogenic (recessive) g.94485137C>T - 51961G3A - ABCA4_000464 - PubMed: Bernstein 2002 - - Unknown ? - - - - DNA SEQ - - retinal disease ? PubMed: Bernstein 2002 unknown 2nd chromosome ? ? United States - - - - - 1 LOVD
+/. - c.5196+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.5196+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.5196+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.5196+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. 36i c.5196+1G>A r.spl p.(?) Unknown - pathogenic (recessive) g.94485137C>T - c.5196+1G>A - ABCA4_000464 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 70534 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. 36i c.5196+1G>A r.spl p.(?) Unknown - pathogenic (recessive) g.94485137C>T - c.5196+1G>A - ABCA4_000464 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70933 PubMed: Khan 2020 - F - Australia - - - - - 1 LOVD
+/. 36i c.5196+1G>A r.spl p.? Parent #2 ACMG pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat182 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0230 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5196+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0341 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5196+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0535 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-88 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-134 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-223 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-237 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-294 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-107 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-mild-294 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-227 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5196+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-377 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5196+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-771 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+/. - c.5196+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.94485137C>T g.94019581C>T - - ABCA4_000464 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-427 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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