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.

113 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     
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Abu-Safieh 2013 - - Germline - ExAC 3, 113672, 0, 0.00002639 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Abu-Safieh 2013 - - Germline - ExAC 3, 113672, 0, 0.00002639 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Chen 2013 - - Germline yes ExAC 3, 113672, 0, 0.00002639 - - - DNA arraySEQ, PCR, SEQ - - STGD1 - PubMed: Chen 2013 2-generation family, 2 affected ? ? China Chinese - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Paternal (inferred) - likely pathogenic g.94487251G>T g.94021695G>T c.4793C>A - ABCA4_000490 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - ExAC 3, 113672, 0, 0.00002639 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? ? France ? - - - - 1 Stéphanie Cornelis
+/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - pathogenic g.94487251G>T g.94021695G>T 4793C>A - ABCA4_000490 - PubMed: Maugeri 2000 - - Germline - ExAC 3, 113672, 0, 0.00002639 - - - DNA SSCA, SEQ - - CORD - PubMed: Maugeri 2000 - ? ? Netherlands;Germany ? - - - - 1 Stéphanie Cornelis
?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #1 - VUS g.94487251G>T g.94021695G>T A1598D; 5714+5G>A - ABCA4_000490 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Paternal (confirmed) - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Fumagalli 2001 - - Germline - ExAC 3, 113672, 0, 0.00002639 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 2-generation family, 2 affected - - Italy - - - - - 1 Stéphanie Cornelis
+/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Maternal (confirmed) - pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Fumagalli 2001 - - Germline - ExAC 3, 113672, 0, 0.00002639 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Passerini 2010 - - Germline ? 3, 113672, 0, 0.00002639 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Passerini 2010, PubMed: Sodi 2010, PubMed: Testa 2012 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? 3, 113672, 0, 0.00002639 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Passerini 2010 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - VUS g.94487251G>T g.94021695G>T c.4793C>A - ABCA4_000490 - PubMed: Stenirri 2008 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Burke 2010 - - Germline ? 3, 113672, 0, 0.00002639 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - VUS g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp - ABCA4_000490 - PubMed: Roberts 2012 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Testa 2012 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Testa 2012 - - Germline ? 3, 113672, 0, 0.00002639 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Testa 2012 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T 4793C>A - ABCA4_000490 - PubMed: Downes 2012 - - Germline ? 3, 113672, 0, 0.00002639 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T 4793C>A - ABCA4_000490 - PubMed: Downes 2012 - - Germline ? 3, 113672, 0, 0.00002639 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - VUS g.94487251G>T g.94021695G>T c.4793C>A - ABCA4_000490 - PubMed: Riveiro-Alvarez 2013 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX retinal disease - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T c.4793C>A - ABCA4_000490 - PubMed: Riveiro-Alvarez 2013 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T p.A1598D - ABCA4_000490 - PubMed: Burke 2014 - - Germline ? 3, 113672, 0, 0.00002639 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - F ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Cideciyan 2009 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Cideciyan 2009 - - Germline - 3, 113672, 0, 0.00002639 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 1 affected family member F ? - ? - - - - 1 Stéphanie Cornelis
+/. 34 c.4793C>A r.(4793c>a) p.(Ala1598Asp) Parent #1 ACMG pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T ABCA4(NM_000350.2):c.4793C>A (p.A1598D), ABCA4(NM_000350.3):c.4793C>A (p.A1598D) - ABCA4_000490 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T - - ABCA4_000490 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - F no Israel Ethiopia;Jewish - - - - 1 Dror Sharon
+/. - c.4793C>A r.(?) p.(Ala1598Asp) Unknown ACMG pathogenic g.94487251G>T - - - ABCA4_000490 - 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.4793C>A r.(?) p.(Ala1598Asp) Unknown ACMG pathogenic g.94487251G>T - - - ABCA4_000490 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.4793C>A r.(?) p.(Ala1598Asp) Parent #2 - likely pathogenic g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 718 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown ACMG pathogenic g.94487251G>T - - - ABCA4_000490 - Mena et al., 2020 submitted - rs61750155 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F ? Argentina - - - - - 1 Marcela Mena
+/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown ACMG pathogenic g.94487251G>T - - - ABCA4_000490 - Mena et al., 2020 submitted - rs61750155 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
?/. - c.4793C>A r.(?) p.(Ala1598Asp) Unknown - VUS g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat15 PubMed: Tsipi 2016 see paper M - Greece - - - - - 1 LOVD
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #1 - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A (34) p.Ala1598Asp - ABCA4_000490 - PubMed: Aguirre-Lamban 2009 - - Unknown yes - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease ARDM-197 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A - ABCA4_000490 - PubMed: Bernstein 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Bernstein 2016 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #1 - likely pathogenic (recessive) g.94487251G>T g.94021695G>T p.Ala1598Asp c.4793C>A - ABCA4_000490 - PubMed: Tsipi 2016 - - Unknown yes - - - - DNA SEQ - - retinal disease 15 PubMed: Tsipi 2016 - M ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.(A1598D) - ABCA4_000490 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 494 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A (p.Ala1598Asp) - ABCA4_000490 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 6 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A (p.Ala1598Asp) - ABCA4_000490 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3198 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A (p.Ala1598Asp) - ABCA4_000490 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3385 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A (p.Ala1598Asp) - ABCA4_000490 no variant 2nd chromosome PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3982 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T Het NM_000350.2: c.4793C>A; - ABCA4_000490 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C.A p.Ala1598Asp - ABCA4_000490 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P13 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A - ABCA4_000490 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 864 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A - ABCA4_000490 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 865 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A - ABCA4_000490 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 866 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>AAla1598Asp - ABCA4_000490 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 14. PubMed: Piccardi 2019 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.Ala1598Asp - ABCA4_000490 no variant 2nd chromosome PubMed: Song 2011 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - Retina-Array retinal disease 18 PubMed: Song 2011 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.(Ala1598Asp) Het - ABCA4_000490 - PubMed: Méjécase 2020 - - Unknown - - - - - DNA ? - - retinal disease Family 21 PubMed: Méjécase 2020 - - ? United Arab Emirates Dubai - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T het c.4793C>A p.Ala1598Asp - ABCA4_000490 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T hom c.4793C>A p.Ala1598Asp - ABCA4_000490 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 68 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.(Ala1598Asp) - ABCA4_000490 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0778 PubMed: Del Pozo-Valero 2020 endogamy - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.(Ala1598Asp) - ABCA4_000490 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1189 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.Ala1598Asp Het - ABCA4_000490 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2016-078-100 Prevention Genetics - - ? - Somalia - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.Ala1598Asp Het - ABCA4_000490 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-234-414 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Homozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1968-3463 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Heterozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3483-4241 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Heterozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ - - retinal disease 4620-5623 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Heterozygous - ABCA4_000490 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ - - retinal disease 5688-6871 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Heterozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ - - retinal disease 5743-6942 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Heterozygous - ABCA4_000490 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ - - retinal disease 6193-7580 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Heterozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ - - retinal disease 845-1364 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T A1598D - ABCA4_000490 - PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 334; 23; C11 PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A (p.Ala1598Asp) - ABCA4_000490 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 16 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #2 - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A (p.Ala1598Asp) - ABCA4_000490 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3511 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #2 - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A Ala1598Asp GCC>GAC - ABCA4_000490 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 718 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A,p.Ala1598Asp - ABCA4_000490 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12028 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A,p.Ala1598Asp - ABCA4_000490 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14108 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C.A p.Ala1598Asp - ABCA4_000490 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P2 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C.A; p.A1598D - ABCA4_000490 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 17 PubMed: Khan 2019 - F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T hom c.4793C>A p.Ala1598Asp - ABCA4_000490 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 68 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.(Ala1598Asp) - ABCA4_000490 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0964 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.(Ala1598Asp) - ABCA4_000490 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-1578 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.Ala1598Asp - ABCA4_000490 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0425 PubMed: Georgiou 2019 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.(Ala1598Asp) - ABCA4_000490 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 36 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A p.(Ala1598Asp) - ABCA4_000490 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 41 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Heterozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1047-2480 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala1598Asp Heterozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1611-2171 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Ala598Asp Heterozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4540-5548 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic (recessive) g.94487251G>T g.94021695G>T c.4793C>A, p.Arg1598Asp Heterozygous - ABCA4_000490 - PubMed: Goetz 2020 - - Unknown - 3, 113672, 0, 0.00002639 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 883-1435 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #1 ACMG likely pathogenic g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Tracewska 2019 - - Germline yes 0 (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
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T - c.4793C>A - ABCA4_000490 - PubMed: Song-2011 - rs61750155 Unknown - - - - - DNA arraySEQ, PCR blood - retinal disease - PubMed: Song-2011 - M - - - - - - - 1 LOVD
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T g.94021695G>T ABCA4 Ex.11 c.1364T>A p.(Leu455Gln), Ex.34 c.4793C>A p.(Ala1598Asp) - ABCA4_000490 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2419 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.4793C>A r.(?) p.(Ala1598Asp) Unknown - likely pathogenic g.94487251G>T - ABCA4(NM_000350.2):c.4793C>A (p.A1598D), ABCA4(NM_000350.3):c.4793C>A (p.A1598D) - ABCA4_000490 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 34 c.4793C>A r.(4793c>a) p.(Ala1598Asp) Parent #2 - pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Ben Yosef 2023 - - Germline yes - - - - DNA SEQ - - STGD1 Fam1 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 family, 2 affected F no Israel Ethiopia;Jew - - - - 2 Tamar Ben-Yosef
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #1 - pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Ben Yosef 2023 - - Unknown - - - - - DNA SEQ - - STGD1 Fam4 PubMed: Ben Yosef 2023 family, 1 affected M no Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #2 - pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Ben Yosef 2023 - - Unknown - - - - - DNA SEQ-NG - MIPs STGD1 Fam6 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 family, 1 affected - no Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #1 - pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Ben Yosef 2023 - - Germline yes - - - - DNA SEQ - - STGD1 Fam8Pat1 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 family, 3 affected (mother/son/daughter) F no Israel Ethiopia;Jew - - - - 3 Tamar Ben-Yosef
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #2 - pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Ben Yosef 2023 - - Unknown - - - - - DNA SEQ - - STGD1 Fam9 PubMed: Ben Yosef 2023 family, 1 affected M no Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+?/. - c.4793C>A r.(?) p.(Ala1598Asp) Unknown - pathogenic g.94487251G>T g.94021695G>T - - ABCA4_000490 no variant 2nd chromosome PubMed: Ben Yosef 2023 - - Unknown - - - - - DNA SEQ - - STGD Fam23 PubMed: Ben Yosef 2023 family, 1 affected F no Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) ACMG pathogenic (recessive) g.94487251G>T - - - ABCA4_000490 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#21 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #1 ACMG pathogenic (recessive) g.94487251G>T - - - ABCA4_000490 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#32 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Maternal (confirmed) ACMG pathogenic (recessive) g.94487251G>T - - - ABCA4_000490 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#37 Bianco 2023, submitted - F no Italy - - - - - 2 Lorenzo Bianco
+?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Maternal (confirmed) ACMG pathogenic (recessive) g.94487251G>T - - - ABCA4_000490 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#38 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #1 ACMG VUS g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat186 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. 34 c.4793C>A r.(?) p.(Ala1598Asp) Parent #2 ACMG VUS g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat42 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.4793C>A r.(?) p.(Ala1598Asp) Unknown - pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0988 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4793C>A r.(?) p.(Ala1598Asp) Both (homozygous) - pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1019 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F yes France - - - - - 1 Frans Cremers
+/. - c.4793C>A r.(?) p.(Ala1598Asp) Parent #2 - pathogenic (recessive) g.94487251G>T g.94021695G>T - - ABCA4_000490 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0180 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
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