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.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

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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     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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+?/. 30i c.4539+2028C>T r.spl? p.(?) Parent #1 - likely pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 1/600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 3-generation family, 2 affecteds, unaffected carrier children M no United States - - - - - 2 Johan den Dunnen
+?/. 30i c.4539+2028C>T r.spl? p.(?) Maternal (confirmed) - likely pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 1/600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - 1 Johan den Dunnen
+?/. 30i c.4539+2028C>T r.spl? p.(?) Maternal (confirmed) - likely pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 1/600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
+?/. 30i c.4539+2028C>T r.spl? p.(?) Maternal (confirmed) - likely pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 1/600 control chromosomes PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - 1 Johan den Dunnen
+?/. 30i c.4539+2028C>T r.spl? p.(?) Parent #1 - likely pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 1/600 control chromosomes PubMed: Braun 2013 - - Unknown yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents F no United States - - - - - 1 Johan den Dunnen
+?/. 30i c.4539+2028C>T r.spl? p.(?) Parent #1 - likely pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 1/600 control chromosomes PubMed: Braun 2013 - - Unknown yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents F no United States - - - - - 1 Johan den Dunnen
+?/. 30i c.4539+2028C>T r.spl? p.(?) Parent #1 - likely pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 1/600 control chromosomes PubMed: Braun 2013 - - Unknown yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents M no United States - - - - - 1 Johan den Dunnen
+/. 30i c.4539+2028C>T r.4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162] p.Arg1514Leufs*36 Parent #1 - pathogenic (recessive) g.94492973G>A g.94027417G>A c.[302+68C>T;4539+2028C>T] - ABCA4_000030 0.15 ABCA4 transcripts PubMed: Lee 2015, PubMed: Albert 2018 - - Germline - - - - - DNA, RNA arrayCGH, PCR, RT-PCR, SEQ, SEQ-NG-I - - STGD1 - PubMed: Lee 2015 2-generation family, 5 affected M ? - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2028C>T r.(?) p.(?) Parent #1 - pathogenic (recessive) g.94492973G>A g.94027417G>A c.[302+68C>T;4539+2028C>T] - ABCA4_000030 - PubMed: Lee 2015 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Lee 2015 2-generation family, 5 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+2028C>T r.(?) p.(?) Maternal (confirmed) - pathogenic (recessive) g.94492973G>A g.94027417G>A c.[302+68C>T;4539+2028C>T] - ABCA4_000030 - PubMed: Lee 2015 - - Germline yes - - - - DNA SEQ-NG-I, PCR, SEQ, arrayCGH - - STGD1 - PubMed: Lee 2015 2-generation family, 5 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2028C>T r.(?) p.(?) Maternal (confirmed) - likely pathogenic (recessive) g.94492973G>A g.94027417G>A c.[302+68C>T;4539+2028C>T] - ABCA4_000030 - PubMed: Lee 2015 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Lee 2015 2-generation family, 5 affected M ? - ? - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.spl p.? Parent #1 - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat48 PubMed: Lionel 2018 - F - Canada - - - - - 1 Johan den Dunnen
?/. 30i c.4539+2028C>T r.spl? p.(?) Parent #1 - VUS g.94492973G>A g.94027417G>A - - ABCA4_000030 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.(=) p.(=) Unknown - pathogenic g.94492973G>A g.94027417G>A ABCA4(NM_000350.2):c.4539+2028C>T, ABCA4(NM_000350.3):c.4539+2028C>T - ABCA4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+2028C>T r.(=) p.(=) Unknown - pathogenic g.94492973G>A g.94027417G>A ABCA4(NM_000350.2):c.4539+2028C>T, ABCA4(NM_000350.3):c.4539+2028C>T - ABCA4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+2028C>T r.spl p.(Arg1514Leufs*36) Unknown - pathogenic (recessive) g.94492973G>A - - - ABCA4_000030 - Doucette 2021, submitted - - Germline yes - - - - DNA SEQ-NG - WES/Deep Intronic Sequencing STGD M53 II-1 Doucette 2021, submitted proband of family M53 initially diagnosed with a cone-dystrophy M no Canada Western European descent (Irish) - - Yes - 1 Lance P Doucette
+?/. - c.4539+2028C>T r.spl p.? Parent #2 - likely pathogenic g.94492973G>A g.94027417G>A IVS30+2028C>T - ABCA4_000030 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 681 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.4539+2028C>T r.spl p.? Parent #2 - likely pathogenic g.94492973G>A g.94027417G>A IVS30+2028C>T - ABCA4_000030 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 682 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.4539+2028C>T r.spl p.? Parent #2 - likely pathogenic g.94492973G>A g.94027417G>A IVS30+2028C>T - ABCA4_000030 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 753 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Parent #2 - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Fadaie 2021 - - Germline no - - - - DNA SEQ-NG - - retinal disease Pat2 PubMed: Fadaie 2021 - - - Ireland - - - - - 1 Zeinab Fadaie
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - VUS g.94492973G>A g.94027417G>A c.4539+2028C>T p.(?) - ABCA4_000030 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 481 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Paternal (confirmed) - likely pathogenic (recessive) g.94492973G>A g.94027417G>A V1: c.4539+2028C>T - ABCA4_000030 - PubMed: Huang 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - exons and flanking regions retinal disease II:1 PubMed: Huang 2020 sibling of patient II:3 and II:4. Father carries V! and V2 and is unaffected M no Australia - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Paternal (confirmed) - likely pathogenic (recessive) g.94492973G>A g.94027417G>A V1: c.4539+2028C>T - ABCA4_000030 - PubMed: Huang 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - exons and flanking regions retinal disease II:3 PubMed: Huang 2020 sibling of patient II:1 and II:4. Father carries V! and V2 and is unaffected M no Australia - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - VUS g.94492973G>A g.94027417G>A c.4539+2028C>T (p.?) - ABCA4_000030 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3786 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Parent #2 - VUS g.94492973G>A g.94027417G>A c.4539+2028C>T (p.?) - ABCA4_000030 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3513 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - VUS g.94492973G>A g.94027417G>A c.4539+2028C>T (p.?) - ABCA4_000030 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3291 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - VUS g.94492973G>A g.94027417G>A c.4539+2028C>T (p.?) - ABCA4_000030 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3798 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Parent #2 - VUS g.94492973G>A g.94027417G>A c.4539+2028C>T IVS30+2028 C>T - ABCA4_000030 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 681 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Parent #2 - VUS g.94492973G>A g.94027417G>A c.4539+2028C>T IVS30+2028 C>T - ABCA4_000030 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 682 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Parent #2 - VUS g.94492973G>A g.94027417G>A c.4539+2028C>T IVS30+2028 C>T - ABCA4_000030 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 753 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Parent #1 - VUS g.94492973G>A g.94027417G>A c.4539+2028C>Ta p.(?) - ABCA4_000030 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 11 PubMed: Lee 2018 sibling of patient 12 F ? United States white - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Parent #1 - VUS g.94492973G>A g.94027417G>A c.4539+2028C>Ta p.(?) - ABCA4_000030 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 12 PubMed: Lee 2018 sibling of patient 11 M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Parent #1 - likely pathogenic (recessive) g.94492973G>A g.94027417G>A c.4539+2028C>T (p.?)  - ABCA4_000030 - PubMed: Albert 2018 - - Unknown - - - - - DNA ? - - retinal disease P2 PubMed: Albert 2018 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94492973G>A g.94027417G>A c.4539+2028C>T, Heterozygous - ABCA4_000030 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 799-1347 PubMed: Goetz 2020 799 is a family member of 798 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94492973G>A - c.4539+2028C>T - ABCA4_000030 - Albert 2018 (V5 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70823 PubMed: Khan 2020 - M - Canada - - - - - 1 LOVD
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94492973G>A - c.4539+2028C>T - ABCA4_000030 - Albert 2018 (V5 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71301 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94492973G>A - c.4539+2028C>T - ABCA4_000030 - Albert 2018 (V5 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71302 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94492973G>A - c.4539+2028C>T - ABCA4_000030 - Albert 2018 (V5 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71311 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94492973G>A - c.4539+2028C>T - ABCA4_000030 - Albert 2018 (V5 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71331 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94492973G>A - c.4539+2028C>T - ABCA4_000030 - Albert 2018 (V5 in Braun et al. HMG, 2013) - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71333 PubMed: Khan 2020 - M - - - - - - - 1 LOVD
+?/. 30i c.4539+2028C>T r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]] p.[=,Arg1514Leufs*36] Unknown - likely pathogenic (recessive) g.94492973G>A - c.4539+2028C>T - ABCA4_000030 unknown variant 2nd chromosome Albert 2018 (V5 in Braun et al. HMG, 2013) - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66668 PubMed: Khan 2019PubMed: Khan 2020 - M - Germany - - - - - 1 LOVD
+/. 30i c.4539+2028C>T r.4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162] p.Arg1514Leufs*36 Parent #1 - pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Huang 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - retinal disease Fam4Pat1 PubMed: Huang 2022 2-generation family, 3 affected - - Australia - - - - - 3 Johan den Dunnen
+/. 30i c.4539+2028C>T r.4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162] p.Arg1514Leufs*36 Parent #1 - pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Huang 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - retinal disease Fam4Pat3 PubMed: Huang 2022 relative - - Australia - - - - - 1 Johan den Dunnen
+/. 30i c.4539+2028C>T r.spl p.[=,Arg1514Leufs*36] Parent #1 ACMG pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat203 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 30i c.4539+2028C>T r.spl p.[=,Arg1514Leufs*36] Parent #2 ACMG pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat190 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.4539+2028C>T r.(=) p.(=) Unknown - likely pathogenic g.94492973G>A - ABCA4(NM_000350.2):c.4539+2028C>T, ABCA4(NM_000350.3):c.4539+2028C>T - ABCA4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-33 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-119 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-302 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-424 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-17 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-63 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-17 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-221 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-303 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4539+2028C>T r.[(=,4539_4540ins4539+1891_4540-2162)] p.[(=,Arg1514Leufs*36)] Unknown - pathogenic (recessive) g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-380 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+2028C>T r.[(=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162])] p.[(=,Arg1514Leufs*36)] Unknown ACMG VUS g.94492973G>A g.94027417G>A - - ABCA4_000030 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066668 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 30i c.4539+2028C>T r.[=,4539_4540ins4539+1891_4540-2162] p.[=,Arg1514LeufsTer36] Unknown ACMG pathogenic g.94492973G>A g.94027417G>A - - ABCA4_000030 ACMG PS4, PM3_V, BP4_m; severity category moderate Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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