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.

32 entries on 1 page. Showing entries 1 - 32.
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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     
?/. 46i c.6386+2C>G r.spl p.? Unknown - VUS g.94466556G>C g.94001000G>C c.6386+2C>G - ABCA4_000831 - PubMed: Zernant 2011 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 46i c.6386+2C>G r.spl p.? Parent #1 - likely pathogenic g.94466556G>C g.94001000G>C c.5882G>A, c.6386+2C>G - ABCA4_000831 - PubMed: Miraldi 2014 - - Germline ? - - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 46i c.6386+2C>G r.spl p.? Unknown - VUS g.94466556G>C g.94001000G>C c.6386+2C>G - ABCA4_000831 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - COD - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.spl p.? Parent #1 ACMG pathogenic (recessive) g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6386+2C>G r.spl? p.? Unknown - likely pathogenic g.94466556G>C g.94001000G>C ABCA4(NM_000350.2):c.6386+2C>G - ABCA4_000831 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6386+2C>G r.spl? p.? Unknown - pathogenic g.94466556G>C - ABCA4(NM_000350.2):c.6386+2C>G - ABCA4_000831 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G p.(V2114Hfs*5) - ABCA4_000831 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 559 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G (p.?) - ABCA4_000831 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3046 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.[6386+2C>G] - ABCA4_000831 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P12T2 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G/p.? - ABCA4_000831 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 478 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G/p.? - ABCA4_000831 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 255 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G/p.? - ABCA4_000831 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 98 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G, Heterozygous - ABCA4_000831 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2669-3336 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G, Heterozygous - ABCA4_000831 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2777-4357 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G, Heterozygous - ABCA4_000831 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2975-3712 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G, Heterozygous - ABCA4_000831 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 588-1134 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C IVS46 + 2 C>G - ABCA4_000831 - PubMed: Bonilha 2014PubMed: Edwards 2020 - - Unknown - - - - - DNA ? - - retinal disease unknown 322 / Donor 1 PubMed: Bonilha 2014PubMed: Edwards 2020 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Parent #2 - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G (p.?) - ABCA4_000831 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3971 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C IVS46:c.6386+2C>G - ABCA4_000831 - PubMed: Ciccone 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Ciccone 2018 patient possibly reported by Zernant et al., 2011 and 2014 F ? United States white - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G, splicesite alteration - ABCA4_000831 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13037 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G, splicesite alteration - ABCA4_000831 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17023 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G, splicesite alteration - ABCA4_000831 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19009 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.(?) p.(?) Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C c.6386+2C>G Splicing het - ABCA4_000831 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-224-007 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 46i c.6386+2C>G r.spl p.? Unknown ACMG pathogenic (recessive) g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat107 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.6386+2C>G r.spl p.? Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0067 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6386+2C>G r.spl p.? Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0245 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6386+2C>G r.spl p.? Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SSCA, SEQ - - retinal disease L-0649 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6386+2C>G r.spl p.? Parent #2 - pathogenic (recessive) g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0697 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6386+2C>G r.spl p.? Unknown - pathogenic (recessive) g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0744 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6386+2C>G r.spl p.? Unknown ACMG pathogenic (recessive) g.94466556G>C g.94001000G>C - - ABCA4_000831 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-381 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 46i c.6386+2C>G r.spl p.? Parent #2 ACMG pathogenic g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072059 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 46i c.6386+2C>G r.spl p.? Parent #2 ACMG pathogenic g.94466556G>C g.94001000G>C - - ABCA4_000831 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073324 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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