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.

139 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T c.5898-11G>A, c.6729+21C>T, both are heterozygous - ABCA4_000484 - PubMed: Alapati 2014 - - Germline - ExAC 7, 121398, 0, 0.00005766 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - likely pathogenic g.94486895C>T g.94021339C>T CGG > CAG - ABCA4_000484 - PubMed: Briggs 2001 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA SSCA, SEQ - - CORD - PubMed: Briggs 2001 2-generation family, 3 affected F yes - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - likely pathogenic g.94486895C>T g.94021339C>T CGG > CAG - ABCA4_000484 - PubMed: Briggs 2001 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA SSCA, SEQ - - CORD - PubMed: Briggs 2001 Sibling from 032-030; 2-generation family, 3 affected M yes - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - likely pathogenic g.94486895C>T g.94021339C>T CGG > CAG - ABCA4_000484 - PubMed: Briggs 2001 - - Germline - ExAC 1, 121394, 0, 0.000008238 - - - DNA SSCA, SEQ - - CORD - PubMed: Briggs 2001 Sibling from 032-030; 2-generation family, 3 affected M yes - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - likely pathogenic g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline yes ExAC 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? yes France ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - likely pathogenic g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline yes ExAC 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - M yes France ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - likely pathogenic g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline yes ExAC 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - M yes France ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Paternal (inferred) - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Simonelli 2000 - - Germline - ExAC 7, 121398, 0, 0.00005766 - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 3-generation family, 2 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Paternal (inferred) - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Simonelli 2000 - - Germline - ExAC 7, 121398, 0, 0.00005766 - - - DNA SSCA, HD - - STGD1 - Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 3-generation family, 2 affected M ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Maternal (confirmed) - likely pathogenic g.94486895C>T g.94021339C>T 4919G→A - ABCA4_000484 - PubMed: Yatsenko 2001 - - Germline - ExAC 7, 121398, 0, 0.00005766 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Maternal (confirmed) - likely pathogenic g.94486895C>T g.94021339C>T 4919G→A - ABCA4_000484 - PubMed: Yatsenko 2001 - - Germline - ExAC 7, 121398, 0, 0.00005766 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Maternal (confirmed) - likely pathogenic g.94486895C>T g.94021339C>T 4919G→A - ABCA4_000484 - PubMed: Yatsenko 2001 - - Germline - ExAC 7, 121398, 0, 0.00005766 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - VUS g.94486895C>T g.94021339C>T 4919G>A - ABCA4_000484 - PubMed: Webster 2001 - - Germline - ExAC 7, 121398, 0, 0.00005766 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Simonelli 2005 - - Germline ? ExAC 7, 121398, 0, 0.00005766 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 2 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Simonelli 2005 - - Germline ? ExAC 7, 121398, 0, 0.00005766 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005 2 affected family members ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - VUS g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Rosenberg 2007 - - Germline - 7, 121398, 0, 0.00005766 - - - 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
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Burke 2010 - - Germline ? 7, 121398, 0, 0.00005766 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - VUS g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Zernant 2011 - - Germline - 7, 121398, 0, 0.00005766 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Testa 2012 - - Germline - 7, 121398, 0, 0.00005766 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 7, 121398, 0, 0.00005766 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 7, 121398, 0, 0.00005766 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Riveiro-Alvarez 2013 - - Germline - 7, 121398, 0, 0.00005766 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - VUS g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Riveiro-Alvarez 2013 - - Germline - 7, 121398, 0, 0.00005766 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - VUS g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Miraldi 2014 - - Germline ? 7, 121398, 0, 0.00005766 - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T c.4919 G>A - ABCA4_000484 - PubMed: Zaneveld 2015 - - Germline ? 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? Canada Canadian - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T c.4919 G>A - ABCA4_000484 - PubMed: Zaneveld 2015 - - Germline ? 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? Canada Canadian - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T p.R1640Q - ABCA4_000484 - PubMed: Sciezynska 2015 - - Germline ? 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Cideciyan 2009 - - Germline yes 7, 121398, 0, 0.00005766 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Cideciyan 2009 - - Germline yes 7, 121398, 0, 0.00005766 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 1 affected family member F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Cideciyan 2009 - - Germline - 7, 121398, 0, 0.00005766 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 35 c.4919G>A r.(4919g>a) p.(Arg1640Gln) Parent #1 ACMG pathogenic (recessive) g.94486895C>T g.94021339C>T - - ABCA4_000484 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - F no Israel Jewish - - - - 1 Dror Sharon
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - likely pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Turkey;Jewish - - - - 1 Dror Sharon
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Paternal (confirmed) - likely pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - Sharon, submitted - - Germline - - - - - DNA SEQ - - maculopathy - Sharon, submitted - M no Israel Jewish - - - - 2 Dror Sharon
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - Sharon, submitted - - Germline - - - - - DNA SEQ - - maculopathy - Sharon, submitted - M no Israel Turkey;Jewish - - - - 3 Dror Sharon
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Parent #1 - likely pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Parent #1 - likely pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Parent #1 - VUS g.94486895C>T g.94021339C>T - - ABCA4_000484 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P54 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
+?/. - c.4919G>A r.(?) p.(Arg1640Gln) Parent #1 - likely pathogenic (recessive) g.94486895C>T g.94021339C>T - - ABCA4_000484 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+/. - c.4919G>A r.(?) p.(Arg1640Gln) Unknown ACMG pathogenic g.94486895C>T - - - ABCA4_000484 - 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.4919G>A r.(?) p.(Arg1640Gln) Unknown ACMG pathogenic g.94486895C>T - - - ABCA4_000484 - 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.4919G>A r.(?) p.(Arg1640Gln) Unknown ACMG pathogenic g.94486895C>T - - - ABCA4_000484 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. - c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3566 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.4919G>A r.(?) p.(Arg1640Gln) Parent #1 - pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3585 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic g.94486895C>T - 1:94486895C>T ENST00000370225.3:c.4919G>A (Arg1640Gln) - ABCA4_000484 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009834 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown ACMG likely pathogenic g.94486895C>T - - - ABCA4_000484 - Mena et al., 2020 submitted - rs61751403 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - M no Argentina - - - - - 1 Marcela Mena
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown ACMG likely pathogenic g.94486895C>T - - - ABCA4_000484 - Mena et al., 2020 submitted - rs61751403 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown ACMG likely pathogenic g.94486895C>T - - - ABCA4_000484 - Mena et al., 2020 submitted - rs61751403 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F ? Argentina - - - - - 1 Marcela Mena
+?/. - c.4919G>A r.(?) p.(Arg1640Gln) Parent #2 - likely pathogenic g.94486895C>T g.94021339C>T - - ABCA4_000484 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/34 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) ACMG pathogenic (recessive) g.94486895C>T - - - ABCA4_000484 - PubMed: Bahena 2021 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing USH Pat52 PubMed: Bahena 2021 - F yes Iran - - - - - 1 Barbara Vona
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Parent #1 - likely pathogenic (recessive) g.94486895C>T g.94021339C>T p.R1640Q - ABCA4_000484 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10123 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T (p.Arg1640Glu) - ABCA4_000484 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 19 PubMed: Sodi 2016 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T Arg1640Gln - ABCA4_000484 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 89 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A (35) p.Arg1640Gln - ABCA4_000484 no variant 2nd chromosome; no segregation analysis done PubMed: Aguirre-Lamban 2009 - - Unknown - - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease ARDM-205 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T R1640Q - ABCA4_000484 - PubMed: Huang 2014 - - Unknown - - - - - DNA ? - - retinal disease P11 PubMed: Huang 2014 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.[(V1617_R1640del, R1640Q)] - ABCA4_000484 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 496 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T p.Arg1640Gln - ABCA4_000484 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 622 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A,p.Arg1640Gln - ABCA4_000484 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13050 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A,p.Arg1640Gln - ABCA4_000484 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16010 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A,p.Arg1640Gln - ABCA4_000484 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17020 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A,p.Arg1640Gln - ABCA4_000484 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19012 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A,p.Arg1640Gln - ABCA4_000484 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19021 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 715 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 716 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 871 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 872 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 873 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 874 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 875 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 876 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 877 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A - ABCA4_000484 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P54 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Both (homozygous) - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.Arg1640Gln - ABCA4_000484 - PubMed: Zenteno 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 3,566 PubMed: Zenteno 2019 - - ? Mexico Mexico - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.(Arg1640Gln) - ABCA4_000484 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1298 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.(Arg1640Gln) - ABCA4_000484 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-533-1088 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T ENST00000370225.3:c.4919G>A p.Arg1640Gln 0/1 - ABCA4_000484 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G009834 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.(Arg1640Gln) - ABCA4_000484 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1187 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.(Arg1640Gln) - ABCA4_000484 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 36 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A/p.R1640Q - ABCA4_000484 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 222 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.Arg1640Gln Het - ABCA4_000484 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-140-164 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1961-3453 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 - PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2052-3561 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 - PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2212-2838 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2288-2919 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3288-4032 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ - - retinal disease 6053-596 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4918G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 - PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ - - retinal disease 6387-451 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.R1640Q heterozygous - ABCA4_000484 - PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6472-1025 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A (p.Arg1640Gln) - ABCA4_000484 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3070 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A (p.Arg1640Gln) - ABCA4_000484 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3081 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Parent #2 - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A (p.Arg1640Gln) - ABCA4_000484 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3036 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A (p.Arg1640Gln) - ABCA4_000484 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3365 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Parent #2 - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G?>?A Arg1640Gln - ABCA4_000484 - PubMed: Riera 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fi15/34 PubMed: Riera 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.(Arg1640Gln) - ABCA4_000484 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1381 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A/p.R1640Q - ABCA4_000484 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 566 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A/p.R1640Q - ABCA4_000484 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 674 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A p.Arg1640Gln Het - ABCA4_000484 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-249-346 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 - PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ - - retinal disease 264-1672 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln Heterozygous - ABCA4_000484 - PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA SEQ - - retinal disease 3935-4826 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4919G>A r.(?) p.(Arg1640Gln) Unknown - likely pathogenic (recessive) g.94486895C>T g.94021339C>T c.4919G>A, p.Arg1640Gln heterozygous - ABCA4_000484 - PubMed: Goetz 2020 - - Unknown - 7, 121398, 0, 0.00005766 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 456-960 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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