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.

207 entries on 3 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     
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Paternal (confirmed) - pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Paternal (confirmed) - pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - 1 Johan den Dunnen
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #2 - pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Braun 2013 - - Unknown yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents F no United States - - - - - 1 Johan den Dunnen
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Alapati 2014 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - pathogenic g.94490567G>A g.94025011G>A ACG > ATG - ABCA4_000026 - PubMed: Briggs 2001 - - Germline ? ExAC 4, 121406, 0, 0.00003295 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Maternal (confirmed) - pathogenic g.94490567G>A g.94025011G>A ACG > ATG - ABCA4_000026 - PubMed: Briggs 2001 - - Germline yes ExAC 4, 121406, 0, 0.00003295 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A ACG > ATG - ABCA4_000026 - PubMed: Briggs 2001 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A ACG > ATG - ABCA4_000026 - PubMed: Briggs 2001 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A ACG > ATG - ABCA4_000026 - PubMed: Briggs 2001 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A T1526M - ABCA4_000026 - PubMed: Lewis 1999 - - Germline ? ExAC 4, 121406, 0, 0.00003295 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A T1526M - ABCA4_000026 - PubMed: Lewis 1999 - - Germline ? ExAC 4, 121406, 0, 0.00003295 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A c.4577C>T - ABCA4_000026 - PubMed: Lewis 1999 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA SEQ-NG-I, SEQ - - retinal disease - PubMed: Wang 2014 Also the mutation c.1622T>C, p.Leu541Pro was identified in this patient. ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Maternal (confirmed) - likely pathogenic g.94490567G>A g.94025011G>A T1526 M - ABCA4_000026 - PubMed: Fumagalli 2001 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 2-generation family, 2 affected - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Maternal (confirmed) - likely pathogenic g.94490567G>A g.94025011G>A T1526 M - ABCA4_000026 - PubMed: Fumagalli 2001 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 2-generation family, 2 affected - - Italy - - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A 4577C>T - ABCA4_000026 - PubMed: Shroyer 2001 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A 4577C>T - ABCA4_000026 - PubMed: Shroyer 2001 - - Germline - ExAC 4, 121406, 0, 0.00003295 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - VUS g.94490567G>A g.94025011G>A T1526M-G1961E - ABCA4_000026 - PubMed: Passerini 2010 - - Germline ? - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A c.4577C>T - ABCA4_000026 - PubMed: Zernant 2011 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - pathogenic g.94490567G>A g.94025011G>A 4577C>T - ABCA4_000026 - PubMed: Downes 2012 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - pathogenic g.94490567G>A g.94025011G>A c.4577C>T - ABCA4_000026 - PubMed: Riveiro-Alvarez 2013 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A c.4577C>T - ABCA4_000026 - PubMed: Fujinami 2013 - - Germline ? 4, 121406, 0, 0.00003295 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A c.4577C>T - ABCA4_000026 - PubMed: Fujinami 2013 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met - ABCA4_000026 - PubMed: Fujinami 2013 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met - ABCA4_000026 - PubMed: Fujinami 2013 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - pathogenic g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met - ABCA4_000026 - PubMed: Fujinami 2013 - - Germline ? 4, 121406, 0, 0.00003295 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Paternal (confirmed) - pathogenic g.94490567G>A g.94025011G>A p.T1526M - ABCA4_000026 - PubMed: Duncker 2015 - - Germline ? 4, 121406, 0, 0.00003295 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A p.T1526M - ABCA4_000026 - PubMed: Duncker 2015 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - Black - - - - 1 Stéphanie Cornelis
?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - VUS g.94490567G>A g.94025011G>A T1526M - ABCA4_000026 - PubMed: Cideciyan 2009 - - Germline yes 4, 121406, 0, 0.00003295 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A T1526M - ABCA4_000026 - PubMed: Cideciyan 2009 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A T1526M - ABCA4_000026 - PubMed: Cideciyan 2009 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 2 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A T1526M - ABCA4_000026 - PubMed: Cideciyan 2009 - - Germline - 4, 121406, 0, 0.00003295 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 2 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+/. 31 c.4577C>T r.(4577c>u) p.(Thr1526Met) Parent #1 ACMG pathogenic (recessive) g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - pathogenic (recessive) g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian - - - - 29 Jana Zernant
+/. - c.4577C>T r.(?) p.(Thr1526Met) Unknown - pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Both (homozygous) - likely pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F yes Israel Morocco;Jewish - - - - 3 Dror Sharon
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - pathogenic (recessive) g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS1PatV-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - pathogenic (recessive) g.94490567G>A g.94025011G>A - - ABCA4_000026 unknown variant 2nd chromosome PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS8PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #2 - pathogenic (recessive) g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS26PatII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+?/. - c.4577C>T r.(?) p.(Thr1526Met) Maternal (confirmed) - likely pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - - - - Germline yes - - - - DNA SEQ-NG blood - STGD1 32 - - M - China - >43y - - - 1 Handong Dan
+?/. - c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - likely pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61750152 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - likely pathogenic (recessive) g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamIPatII3 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+?/. - c.4577C>T r.(?) p.(Thr1526Met) Unknown ACMG likely pathogenic g.94490567G>A - - - ABCA4_000026 - 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.4577C>T r.(?) p.(Thr1526Met) Unknown ACMG likely pathogenic g.94490567G>A - - - ABCA4_000026 - 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.4577C>T r.(?) p.(Thr1526Met) Unknown - pathogenic (recessive) g.94490567G>A - 1:94490567G>A ENST00000370225.3:c.4577C>T (Thr1526Met) - ABCA4_000026 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007712 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown ACMG pathogenic g.94490567G>A - - - ABCA4_000026 - Mena et al., 2020 submitted. - rs61750152 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.4577C>T r.(?) p.(Thr1526Met) Parent #2 - likely pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 778 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4577C>T r.(?) p.(Thr1526Met) Parent #2 - likely pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 779 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown ACMG pathogenic g.94490567G>A - - - ABCA4_000026 - Mena et al., 2020 submitted - rs61750152 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown ACMG pathogenic g.94490567G>A - - - ABCA4_000026 - Mena et al., 2020 submitted - rs61750152 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - M no Argentina - - - - - 1 Marcela Mena
+?/. - c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13001831 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A p.T1526M - ABCA4_000026 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10005 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A p.T1526M - ABCA4_000026 no variant 2nd chromosome PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 6 PubMed: Duncker 2014 - M ? - black - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C.T - ABCA4_000026 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 20 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A p.(T1526M) - ABCA4_000026 no variant 2nd chromosome PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90139 PubMed: Lee 2017 - M ? - India - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.(Thr1526Met) - ABCA4_000026 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease MEH 12 PubMed: Lambertus 2017 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T (p.Thr1526Met) - ABCA4_000026 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3291 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T (p.Thr1526Met) - ABCA4_000026 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3971 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T (p.Thr1526Met) - ABCA4_000026 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3011 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T (p.Thr1526Met) - ABCA4_000026 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 9057 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Both (homozygous) - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T (p.Thr1526Met) - ABCA4_000026 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3863 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T (p.Thr1526Met) - ABCA4_000026 no variant 2nd chromosome PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3733 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T (p.Thr1526Met) - ABCA4_000026 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3740 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A p.T1526M - ABCA4_000026 - 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
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A p.Thr1526Met - ABCA4_000026 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 620 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A p.T1526M - ABCA4_000026 - PubMed: Paavo 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 17 PubMed: Paavo 2018 - - ? United States India - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T,p.Thr1526Met - ABCA4_000026 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13008 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T,p.Thr1526Met - ABCA4_000026 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16031 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T,p.Thr1526Met - ABCA4_000026 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17008 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Parent #1 - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.(Thr1526Met) - ABCA4_000026 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease I-II:3 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T - ABCA4_000026 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 861 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T - ABCA4_000026 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 862 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Maternal (confirmed) - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.(Thr1526Met) - ABCA4_000026 - PubMed: Dan 2019 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease 32 PubMed: Dan 2019 - M no China Han - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.Thr1526Met - ABCA4_000026 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1144 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.Thr1526Met - ABCA4_000026 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1145 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T - ABCA4_000026 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A027 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T(;)4163T>C - ABCA4_000026 - PubMed: Green 2020 - - Germline - - - - - DNA SEQ - exons and flanking intronic regions retinal disease S1:V-1 PubMed: Green 2020 family member of S1:III-4 and S1:III-6 - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T(;)5603A>T - ABCA4_000026 - PubMed: Green 2020 - - Germline - - - - - DNA SEQ - exons and flanking intronic regions retinal disease S8:II-2 PubMed: Green 2020 - - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T(;)5714+5G>A - ABCA4_000026 - PubMed: Green 2020 - - Germline - - - - - DNA SEQ - exons and flanking intronic regions retinal disease S26:II-1 PubMed: Green 2020 - - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.(Thr1562Met) - ABCA4_000026 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-312-735 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A ABCA4 c.4577C>T p.(Thr1526Met) het - ABCA4_000026 - PubMed: Ellingford 2016 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 13001831 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.(Thr1526Met) - ABCA4_000026 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1191 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A NM_000350 c.4577C>T p.Thr1526Met - ABCA4_000026 - PubMed: Ezquerra-Inchausti 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease RP193 PubMed: Ezquerra-Inchausti 2018 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T (p.Thr1526Met) - ABCA4_000026 - PubMed: Reich 2020 - - Unknown - - - - - DNA ? - - retinal disease 19 PubMed: Reich 2020 possible overlap with PMID 31799409 F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.Thr1526Met - ABCA4_000026 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0365 PubMed: Georgiou 2019 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.Thr1526Met het - ABCA4_000026 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-100-042 Prevention Genetics - - ? - Great Britain (United Kingdom) - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.Thr1526Met het - ABCA4_000026 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2015-243-035 Prevention Genetics - - ? - Italian, German, Irish - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.Thr1526Met Het - ABCA4_000026 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2015-341-010 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.Thr1526Met het - ABCA4_000026 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-009-082 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T p.Thr1526Met Het - ABCA4_000026 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-226-214 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 - PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1478-2021 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ - - retinal disease 1578-2133 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 - PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ - - retinal disease 1786-2371 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 - PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ - - retinal disease 1798-2382 PubMed: Goetz 2020 1798 is a family member of 1797 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1901-3417 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 - PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2075-3587 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 - PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2172-2795 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 - PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2670-3338 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 - PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ - - retinal disease 3326-4102 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 31 c.4577C>T r.(?) p.(Thr1526Met) Unknown - likely pathogenic (recessive) g.94490567G>A g.94025011G>A c.4577C>T, p.Thr1526Met Heterozygous - ABCA4_000026 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 4, 121406, 0, 0.00003295 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3725-4532 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
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