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.

62 entries on 1 page. Showing entries 1 - 62.
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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     

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Age at death     

VIP     

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Owner     
?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - VUS g.94577082C>T g.94111526C>T G72R - ABCA4_000232 - PubMed: Rivera 2000 - - Germline - ExAC 3, 121252, 0, 0.00002474 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - VUS g.94577082C>T g.94111526C>T c.214G>A - ABCA4_000232 - PubMed: Rosenberg 2007 - - Germline - 3, 121252, 0, 0.00002474 - - - 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
?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - VUS g.94577082C>T g.94111526C>T c.214G>A - ABCA4_000232 - PubMed: Lambertus 2015 - - Germline - 3, 121252, 0, 0.00002474 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 3 c.214G>A r.(214g>a) p.(Gly72Arg) Parent #1 ACMG pathogenic (recessive) g.94577082C>T g.94111526C>T - - ABCA4_000232 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - pathogenic g.94577082C>T g.94111526C>T - - ABCA4_000232 - PubMed: Garces 2018, Journal: Garces 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG Blood - STGD1 Patient 2 Journal: Garces, F. et al. 2018. - ? - - - >22y - - - 1 Fabian Garces
+/+? 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - pathogenic g.94577082C>T g.94111526C>T - - ABCA4_000232 - PubMed: Garces 2018, Journal: Garces 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG Blood - STGD1 Patient 3 PubMed: Garces 2018, Journal: Garces 2018 - - - Canada - >28y - - - 1 Fabian Garces
+/. 3 c.214G>A r.(?) p.(Gly72Arg) Parent #1 - pathogenic (recessive) g.94577082C>T g.94111526C>T - - ABCA4_000232 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat85 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T p.Gly72Arg - ABCA4_000232 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 85 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.G72R - ABCA4_000232 - PubMed: Thiadens 2012 - - Unknown - - - - - DNA DGGE, PE, SEQ - APEX retinal disease Unknown 291 PubMed: Thiadens 2012 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A, p.Gly72Arg; - ABCA4_000232 - PubMed: Khan 2018 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease 12149124 PubMed: Khan 2018 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A, p.(Gly72Arg)12 - ABCA4_000232 - PubMed: Garces 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 2 PubMed: Garces 2018 Sibling of patient 3 - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A, p.(Gly72Arg)12 - ABCA4_000232 - PubMed: Garces 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 3 PubMed: Garces 2018 Sibling of patient 2 - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Both (homozygous) - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G.A p.Gly72Arg - ABCA4_000232 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P19 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Both (homozygous) - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G.A p.Gly72Arg - ABCA4_000232 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P25 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Both (homozygous) - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G.A p.Gly72Arg - ABCA4_000232 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P45 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.(Gly72Arg) - ABCA4_000232 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 19 PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Both (homozygous) - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G[A;p.Gly72Arg - ABCA4_000232 - PubMed: Nasser 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 1 PubMed: Nasser 2019 Also CRX c.425A>G;p.Tyr142Cys had been found heterozygously M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK028 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK034 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK037 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK038 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK043 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-B PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-D PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-F PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-P PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T het c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.(Gly72Arg) - ABCA4_000232 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1257 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.(Gly72Arg) - ABCA4_000232 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 332 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A/p.G72R - ABCA4_000232 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 506 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Both (homozygous) - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A/p.G72R - ABCA4_000232 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 702 PubMed: Weisschuh 2020 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A/p.G72R - ABCA4_000232 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 329 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A, p.Gly72Arg heterozygous - ABCA4_000232 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121252, 0, 0.00002474 - - - DNA arraySEQ - Gene Chip retinal disease 1115-2554 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A, p.Gly72Arg Heterozygous - ABCA4_000232 - PubMed: Goetz 2020 - - Unknown - 3, 121252, 0, 0.00002474 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2321-2956 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A, p.Gly72Arg Heterozygous - ABCA4_000232 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121252, 0, 0.00002474 - - - DNA SEQ-NG-I - solid state SBS retinal disease 275-1653 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A, p.Gly72Arg Heterozygous - ABCA4_000232 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121252, 0, 0.00002474 - - - DNA SEQ - - retinal disease 4024-4899 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.(Gly72Arg) - ABCA4_000232 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease Radboudumc 2 PubMed: Lambertus 2017 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK028 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK034 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK037 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK038 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK043 PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-B PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-D PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-E PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-F PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A p.Gly72Arg - ABCA4_000232 - PubMed: Rehman 2019 - - Unknown - - - - - DNA SEQ, arraySNP - WES retinal disease PK-P PubMed: Rehman 2019 - - yes Pakistan Pashtuns - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A/p.G72R - ABCA4_000232 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 745 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic (recessive) g.94577082C>T g.94111526C>T c.214G>A, p.Gly72Arg Heterozygous - ABCA4_000232 - PubMed: Goetz 2020 - - Unknown - 3, 121252, 0, 0.00002474 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4555-5532 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - pathogenic g.94577082C>T - c.214G>A - ABCA4_000232 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+?/. p.(Gly72Arg) c.214G>A r.(?) p.G72R Both (homozygous) ACMG likely pathogenic g.94577082C>T g.94111526C>T c.214G>A, p.G72R - ABCA4_000232 homozygous PubMed: Nasser 2019 - - Germline - - - - - DNA SEQ-NG blood 105 retinal dystrophy-associated genes retinal disease 1 PubMed: Nasser 2019 - M - Germany - - - - - 1 LOVD
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Unknown - likely pathogenic g.94577082C>T - c.214G>A - ABCA4_000232 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Parent #1 - likely pathogenic (recessive) g.94577082C>T - c.214G>A/p.(Gly72Arg) - ABCA4_000232 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 31 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+/. 3 c.214G>A r.(?) p.(Gly72Arg) Parent #1 - pathogenic g.94577082C>T - c.214G>A - ABCA4_000232 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 3 c.214G>A r.(?) p.(Gly72Arg) Parent #2 - pathogenic g.94577082C>T - c.214G>A - ABCA4_000232 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. 3 c.214G>A r.(?) p.(Gly72Arg) Maternal (confirmed) ACMG pathogenic (recessive) g.94577082C>T - - - ABCA4_000232 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#4 Bianco 2023, submitted - M no Italy Pakistanian - - - - 1 Lorenzo Bianco
+/. - c.214G>A r.(?) p.(Gly72Arg) Unknown - pathogenic g.94577082C>T - - - ABCA4_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.214G>A r.(?) p.(Gly72Arg) Unknown - pathogenic (recessive) g.94577082C>T g.94111526C>T - - ABCA4_000232 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0444 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.214G>A r.(?) p.(Gly72Arg) Both (homozygous) ACMG pathogenic (recessive) g.94577082C>T g.94111526C>T - - ABCA4_000232 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-164 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.214G>A r.(?) p.(Gly72Arg) Both (homozygous) - pathogenic (recessive) g.94577082C>T g.94111526C>T - - ABCA4_000232 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-292 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.214G>A r.(?) p.(Gly72Arg) Unknown ACMG pathogenic (recessive) g.94577082C>T g.94111526C>T - - ABCA4_000232 ACMG PP3, PM2, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-815 PubMed: Weisschuh 2024 patient F - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.214G>A r.(?) p.(Gly72Arg) Parent #1 ACMG pathogenic g.94577082C>T g.94111526C>T - - ABCA4_000232 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA08-02669 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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