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.

70 entries on 1 page. Showing entries 1 - 70.
Legend   How to query  

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     
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Both (homozygous) - likely pathogenic g.94512602C>T g.94047046C>T G2791A - ABCA4_000052 - PubMed: Allikmets 1997; PubMed: Allikmets 1997 - - Germline yes ExAC 59, 120896, 0, 0.000488 - - - DNA HD, SEQ - - STGD1 - PubMed: Anderson 1995 - ? yes Saudi Arabia ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Parent #1 - VUS g.94512602C>T g.94047046C>T V931 M; P1380L - ABCA4_000052 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic g.94512602C>T g.94047046C>T V931M - ABCA4_000052 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - pathogenic g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 - PubMed: Maia-Lopes 2009 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Parent #1 - likely pathogenic g.94512602C>T g.94047046C>T c.[2791G>A]+[4926C>G] - ABCA4_000052 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 - PubMed: Zernant 2011 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A, p.Val931Met - ABCA4_000052 - PubMed: Roberts 2012 - - Germline - 59, 120896, 0, 0.000488 - - - 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
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T p.Val931Met - ABCA4_000052 - PubMed: Fujinami 2013 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - pathogenic g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 - PubMed: Riveiro-Alvarez 2013 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - pathogenic g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 - PubMed: Riveiro-Alvarez 2013 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 - PubMed: Riveiro-Alvarez 2013 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 - PubMed: Riveiro-Alvarez 2013 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 - PubMed: Riveiro-Alvarez 2013 - - Germline - 59, 120896, 0, 0.000488 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Both (homozygous) - likely pathogenic g.94512602C>T g.94047046C>T c.2791G>A, c.5114G>A - ABCA4_000052 - PubMed: Fujinami 2013 - - Germline ? - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Fujinami 2013 - M yes - South Asian - - - - 1 Stéphanie Cornelis
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic g.94512602C>T g.94047046C>T V931M - ABCA4_000052 - PubMed: Cideciyan 2009 - - Germline yes 59, 120896, 0, 0.000488 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2791G>A r.(2791g>a) p.(Val931Met) Parent #1 ACMG likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic g.94512602C>T g.94047046C>T - - ABCA4_000052 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - F no Israel Jewish - - - - 1 Dror Sharon
?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T ABCA4(NM_000350.3):c.2791G>A (p.V931M) - ABCA4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2791G>A r.(?) p.(Val931Met) Unknown ACMG pathogenic g.94512602C>T - - - ABCA4_000052 - 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.2791G>A r.(?) p.(Val931Met) Unknown ACMG pathogenic g.94512602C>T - - - ABCA4_000052 - 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.2791G>A r.(?) p.(Val931Met) Parent #1 - pathogenic g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Zolnikova 2017 - rs58331765 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P009 PubMed: Zolnikova 2017 - - - Russia Chechen - - - - 1 LOVD
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T (p.Val931Met) - ABCA4_000052 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 14 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T Val931Met - ABCA4_000052 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 200 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T Val931Met - ABCA4_000052 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 201 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T Val931Met - ABCA4_000052 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 202 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T Val931Met - ABCA4_000052 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 203 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T Val931Met - ABCA4_000052 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 204 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A (19) p.Val931Met - ABCA4_000052 no variant 2nd chromosome; no segregation analysis done PubMed: Aguirre-Lamban 2009 - - Unknown - - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease ARDM-222 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A Val931Met Heterozygous - ABCA4_000052 no variant 2nd chromosome PubMed: Zolnikova 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P009 PubMed: Zolnikova 2017 - M ? Russia Chechen - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A (p.Val931Met) - ABCA4_000052 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 1 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A (p.Val931Met) - ABCA4_000052 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 2 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 796 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 797 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A - ABCA4_000052 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 798 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A;p.Val931Met - ABCA4_000052 no variant 2nd chromosome PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 38. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A p.(Val931Met) - ABCA4_000052 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0401 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A p.(Val931Met) - ABCA4_000052 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1204 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A p.(Val931Met) - ABCA4_000052 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 16 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A p.(Val931Met) - ABCA4_000052 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 19 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A p.Val931Met Het - ABCA4_000052 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-208-021 Prevention Genetics - - ? - England - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A p.Val931Met Het - ABCA4_000052 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2018-087-072 Prevention Genetics - - ? - Africa;Haiti - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A, p.Val931Met Heterozygous - ABCA4_000052 - PubMed: Goetz 2020 - - Unknown - 59, 120896, 0, 0.000488 - - - DNA SEQ - - retinal disease 304-1686 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T (p.Val931Met) - ABCA4_000052 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 22 PubMed: Sodi 2016 likely twins with patient 23 M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T (p.Val931Met) - ABCA4_000052 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 23 PubMed: Sodi 2016 likely twins with patient 22 M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Parent #2 - VUS g.94512602C>T g.94047046C>T p.Val931Met - ABCA4_000052 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam G II 1 PubMed: Salles 2017 - F no Brazil - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Parent #2 - VUS g.94512602C>T g.94047046C>T c.2791G>A p.Val931Met - ABCA4_000052 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A p.(Val931Met) - ABCA4_000052 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 4 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A p.Val931Met het - ABCA4_000052 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2017-187-145 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T g.94047046C>T c.2791G>A, p.Val931Met Heterozygous - ABCA4_000052 - PubMed: Goetz 2020 - - Unknown - 59, 120896, 0, 0.000488 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2868-4456 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T - ABCA4(NM_000350.3):c.2791G>A (p.V931M) - ABCA4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown - VUS g.94512602C>T - c.2791G>A - ABCA4_000052 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70700 PubMed: Khan 2020 - F - Spain - - - - - 1 LOVD
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Parent #2 ACMG VUS g.94512602C>T - - - ABCA4_000052 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#51 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+?/. 19 c.2791G>A r.(?) p.(Val931Met) Unknown ACMG likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat278 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.2791G>A r.(?) p.(Val931Met) Parent #1 - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0107 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0142 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0252 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Parent #1 - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease L-0661 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Parent #1 - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0727 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Both (homozygous) - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0990 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F yes France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0087 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0154 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Both (homozygous) - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0990 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F yes France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1078 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-51 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-21 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-74 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-41 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.2791G>A r.(?) p.(Val931Met) Unknown - likely pathogenic (recessive) g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-427 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 19 c.2791G>A r.(?) p.(Val931Met) Parent #1 ACMG pathogenic g.94512602C>T g.94047046C>T - - ABCA4_000052 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074633 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.2791G>A r.(?) p.(Val931Met) Unknown ACMG pathogenic g.94512602C>T g.94047046C>T - - ABCA4_000052 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 075145 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.