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.

37 entries on 1 page. Showing entries 1 - 37.
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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     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G R219T - ABCA4_000380 - PubMed: Jaakson 2003 - - Germline - ExAC 5, 120978, 0, 0.00004133 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #1 - VUS g.94564462C>G g.94098906C>G c.2588G>C/R219T - ABCA4_000380 - PubMed: Rosenberg 2007 - - Germline ? - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C - ABCA4_000380 - PubMed: Rosenberg 2007 - - Germline - 5, 120978, 0, 0.00004133 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C - ABCA4_000380 - PubMed: Rosenberg 2007 - - Germline - 5, 120978, 0, 0.00004133 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C - ABCA4_000380 - PubMed: Ernest 2009 - - Germline - 5, 120978, 0, 0.00004133 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #1 - VUS g.94564462C>G g.94098906C>G 2588G>C; 656G>T - ABCA4_000380 - PubMed: Westeneng-van Haaften 2012 - - Germline ? - - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #1 - VUS g.94564462C>G g.94098906C>G c.656G>C, c.2588G>C, - ABCA4_000380 - PubMed: Lambertus 2015 - - Germline - - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 These mutations were found together in one patient 3 times (Among +/- 4000 patients). They could therefore be incisas the 656 mutation isn't very frequent and was never found with another mutation. ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Paternal (confirmed) - VUS g.94564462C>G g.94098906C>G c.1253T>C/c.656G>C - ABCA4_000380 - PubMed: Müller 2015 - - Germline - - - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(656g>c) p.(Arg219Thr) Parent #1 ACMG VUS g.94564462C>G g.94098906C>G - - ABCA4_000380 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G ABCA4(NM_000350.2):c.656G>C (p.R219T), ABCA4(NM_000350.3):c.656G>C (p.R219T) - ABCA4_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G ABCA4(NM_000350.2):c.656G>C (p.R219T), ABCA4(NM_000350.3):c.656G>C (p.R219T) - ABCA4_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #1 - likely pathogenic g.94564462C>G g.94098906C>G - - ABCA4_000380 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - pathogenic (recessive) g.94564462C>G g.94098906C>G - - ABCA4_000380 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat15 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C p.(R219T) - ABCA4_000380 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 391 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C(;)2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile) - ABCA4_000380 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67140 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C, p.Arg219Thr Heterozygous - ABCA4_000380 - PubMed: Goetz 2020 - - Unknown - 5, 120978, 0, 0.00004133 - - - DNA SEQ - - retinal disease 2214-2839 PubMed: Goetz 2020 2214 is a family member of 2213 - ? - - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G p.Arg219Thr - ABCA4_000380 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 15 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C (p.Arg219Thr), - ABCA4_000380 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2644 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G R219T - ABCA4_000380 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0085 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>Cd - ABCA4_000380 - PubMed: Teussink 2015 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2 PubMed: Teussink 2015 - F ? Netherlands white - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #2 - VUS g.94564462C>G g.94098906C>G c.656G>C p.(Arg219Thr) - ABCA4_000380 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 22 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C, p.Arg219Thr - ABCA4_000380 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15096 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C, p.Arg219Thr Heterozygous - ABCA4_000380 - PubMed: Goetz 2020 - - Unknown - 5, 120978, 0, 0.00004133 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2213-2839 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G c.656G>C, p.Arg219Thr Heterozygous - ABCA4_000380 - PubMed: Goetz 2020 - - Unknown - 5, 120978, 0, 0.00004133 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5170-7147 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G - ABCA4(NM_000350.2):c.656G>C (p.R219T), ABCA4(NM_000350.3):c.656G>C (p.R219T) - ABCA4_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G - c.656G>C(;)[2588G>C;5603A>T] - ABCA4_000380 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70569 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G - c.[2588G>C;5603A>T](;)656G>C - ABCA4_000380 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70726 PubMed: Khan 2020 - M - Czech Republic - - - - - 1 LOVD
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G - c.656G>C(;)2588G>C(;)5603A>T - ABCA4_000380 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71424 PubMed: Khan 2020 - M - - - - - - - 1 LOVD
?/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #1 ACMG VUS g.94564462C>G g.94098906C>G - - ABCA4_000380 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat6 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. - c.656G>C r.(?) p.(Arg219Thr) Parent #1 - VUS g.94564462C>G g.94098906C>G - - ABCA4_000380 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease L-0646 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G - - ABCA4_000380 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0850 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G - - ABCA4_000380 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-33 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.656G>C r.(?) p.(Arg219Thr) Unknown - VUS g.94564462C>G g.94098906C>G - - ABCA4_000380 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-113 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.656G>C r.(?) p.(Arg219Thr) Unknown ACMG VUS g.94564462C>G g.94098906C>G - - ABCA4_000380 ACMG PM2, PP2, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-381 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #1 ACMG pathogenic g.94564462C>G g.94098906C>G c.656G>C(;)2588G>C(;)5603A>T - ABCA4_000380 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072798 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #1 ACMG pathogenic g.94564462C>G g.94098906C>G c.[656G>C;2588G>C;5603A>T] - ABCA4_000380 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA19-14671 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 6 c.656G>C r.(?) p.(Arg219Thr) Parent #1 ACMG pathogenic g.94564462C>G g.94098906C>G c.[656G>C;2588G>C;5603A>T] - ABCA4_000380 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA20-16252 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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