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.

121 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     
+/. 45 c.6148G>C r.(?) p.(Val2050Leu) Paternal (confirmed) - pathogenic g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Corton 2013 - - Germline yes ExAC 334, 121350, 0, 0.002752 - - - DNA SEQ-NG, PCR, SEQ - - RD - PubMed: Corton 2013 2-generation family, 2 affected M ? Switzerland Spanish - - - - 1 Stéphanie Cornelis
+/. 45 c.6148G>C r.(?) p.(Val2050Leu) Paternal (confirmed) - pathogenic g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Corton 2013 - - Germline yes ExAC 334, 121350, 0, 0.002752 - - - DNA SEQ-NG, PCR, SEQ - - RD - PubMed: Corton 2013 2-generation family, 2 affected M ? Switzerland Spanish - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G GTT > CTT - ABCA4_000788 - PubMed: Briggs 2001 - - Germline - ExAC 334, 121350, 0, 0.002752 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - VUS g.94467548C>G g.94001992C>G H1406Y, V2050L - ABCA4_000788 - PubMed: Lewis 1999 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 - ? ? United States white - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(?) Unknown - VUS g.94467548C>G g.94001992C>G 6148G>C - ABCA4_000788 - PubMed: Klevering 2004 - - Germline - ExAC 334, 121350, 0, 0.002752 - - - DNA PE, SSCA, SEQ - APEX retinal disease - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - VUS g.94467548C>G g.94001992C>G 4216C>T, 6148G>C - ABCA4_000788 - PubMed: Shroyer 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - VUS g.94467548C>G g.94001992C>G 4216C>T, 6148G>C - ABCA4_000788 - PubMed: Shroyer 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(?) Unknown - VUS g.94467548C>G g.94001992C>G Val2050Leu - ABCA4_000788 - PubMed: Fishman 2003 - - Germline - ExAC 334, 121350, 0, 0.002752 - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Fishman 2003 - F ? - white - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(?) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 found no variant 2nd chromosome PubMed: Kitiratschky 2008 - - Germline - ExAC 334, 121350, 0, 0.002752 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(?) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Zernant 2011 - - Germline - 334, 121350, 0, 0.002752 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G V2050L - ABCA4_000788 - PubMed: Maia-Lopes 2008 - - Germline - 334, 121350, 0, 0.002752 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. M ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Riveiro-Alvarez 2013 - - Germline - 334, 121350, 0, 0.002752 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX retinal disease - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Riveiro-Alvarez 2013 - - Germline - 334, 121350, 0, 0.002752 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Riveiro-Alvarez 2013 - - Germline - 334, 121350, 0, 0.002752 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Riveiro-Alvarez 2013 - - Germline - 334, 121350, 0, 0.002752 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Riveiro-Alvarez 2013 - - Germline - 334, 121350, 0, 0.002752 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Bauwens 2014 - - Germline - 334, 121350, 0, 0.002752 - - - DNA SEQ-NG-I, PCR, SEQ - - CORD - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Paternal (confirmed) - likely pathogenic g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Fernandez-San Jose 2015 - - Germline yes 334, 121350, 0, 0.002752 - - - DNA SSCA, DGGE, arraySNP, PCRlr, SEQ-NG-I - - retinal disease RP-1875 (1) PubMed: Fernandez-San Jose 2015 3-generation family, 2, possibly 3 affected M ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Paternal (confirmed) - likely pathogenic g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Fernandez-San Jose 2015 - - Germline yes 334, 121350, 0, 0.002752 - - - DNA SSCA, DGGE, arraySNP, PCRlr, SEQ-NG-I - - retinal disease RP-1875 (2) PubMed: Fernandez-San Jose 2015 3-generation family, 2, possibly 3 affected. This patient has both mutations but doesn't show signs of the disease (yet). F ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Paternal (inferred) - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 - PubMed: Fernandez-San Jose 2015 - - Germline - 334, 121350, 0, 0.002752 - - - DNA SSCA, DGGE, arraySNP, PCRlr, SEQ-NG-I - - retinal disease RP-1875 (3) PubMed: Fernandez-San Jose 2015 3-generation family, 2, possibly 3 affected F ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - likely pathogenic g.94467548C>G g.94001992C>G p.[(R152*; V2050L)] - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline ? - - - - DNA SEQ-NG-R - - CORD - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - likely pathogenic g.94467548C>G g.94001992C>G p.[(R152*; V2050L)] - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline ? - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.(?) p.(Val2050Leu, ?) Unknown - likely pathogenic g.94467548C>G g.94001992C>G p.V2050L - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline ? 334, 121350, 0, 0.002752 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - likely pathogenic g.94467548C>G g.94001992C>G p.[(R152*; V2050L)] - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline ? - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - pathogenic g.94467548C>G g.94001992C>G p.[(R152*; V2050L)] - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - pathogenic g.94467548C>G g.94001992C>G p.[(R152*; V2050L)] - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - pathogenic g.94467548C>G g.94001992C>G p.[(R152*; V2050L)] - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - likely pathogenic g.94467548C>G g.94001992C>G p.[(R152*; V2050L)] - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.[(Val2050Leu, ?)] Parent #1 - VUS g.94467548C>G g.94001992C>G p.[(R152*; V2050L)] - ABCA4_000788 - PubMed: Sciezynska 2015 - - Germline - - - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu, ?) Unknown - VUS g.94467548C>G g.94001992C>G V2050L - ABCA4_000788 - PubMed: Allikmets 1998 - - Germline - 334, 121350, 0, 0.002752 - - - DNA SEQ - - STGD1 - PubMed: Allikmets 1998 ? ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(?) p.(Val2050Leu, ?) Unknown - VUS g.94467548C>G g.94001992C>G V2050L - ABCA4_000788 - PubMed: Allikmets 1998 - - Germline - 334, 121350, 0, 0.002752 - - - DNA SEQ - - STGD1 - PubMed: Allikmets 1998 ? ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.(6148g>c) p.(Val2050Leu) Parent #1 ACMG VUS g.94467548C>G g.94001992C>G - - ABCA4_000788 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6148G>C r.(?) p.(Val2050Leu) Unknown - likely benign g.94467548C>G g.94001992C>G ABCA4(NM_000350.2):c.6148G>C (p.V2050L), ABCA4(NM_000350.3):c.6148G>C (p.V2050L) - ABCA4_000788 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G - - ABCA4_000788 - - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#7 Manuscript under review (González-del Pozo et al., 2018) - F ? Spain - - - - - 1 María González-del Pozo
+?/. 45 c.6148G>C r.spl? p.(Val2050Leu) Parent #2 - likely pathogenic g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Parent #1 - likely pathogenic g.94467548C>G g.94001992C>G - - ABCA4_000788 unknown variant 2nd allele PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.spl? p.(Val2050Leu) Parent #1 - likely pathogenic g.94467548C>G g.94001992C>G - - ABCA4_000788 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.spl? p.(Val2050Leu) Parent #1 - likely pathogenic g.94467548C>G g.94001992C>G - - ABCA4_000788 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6148G>C r.spl? p.(Val2050Leu) Parent #1 - VUS g.94467548C>G g.94001992C>G - - ABCA4_000788 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-?/. - c.6148G>C r.(?) p.(Val2050Leu) Unknown - likely benign g.94467548C>G g.94001992C>G ABCA4(NM_000350.2):c.6148G>C (p.V2050L), ABCA4(NM_000350.3):c.6148G>C (p.V2050L) - ABCA4_000788 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G ABCA4(NM_000350.2):c.6148G>C (p.V2050L), ABCA4(NM_000350.3):c.6148G>C (p.V2050L) - ABCA4_000788 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 46 c.6148G>C r.(?) p.(Val2050Leu) Unknown - pathogenic (recessive) g.94467548C>G g.94001992C>G - - ABCA4_000788 no 2nd variant found; variant not related to phenotype reported PubMed: Blanco-Kelly 2017 - - Germline no - - - - DNA MLPA, SEQ - MLPA for ABCA4 ? patient PubMed: Blanco-Kelly 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Spain - - - - - 1 Johan den Dunnen
+?/. - c.6148G>C r.(?) p.(Val2050Leu) Parent #1 - likely pathogenic (recessive) g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.6148G>C r.(?) p.(Val2050Leu) Both (homozygous) - pathogenic g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3457 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.6148G>C r.(?) p.(Val2050Leu) Unknown - pathogenic (recessive) g.94467548C>G - 1:94467548C>G ENST00000370225.3:c.6148G>C (Val2050Leu) - ABCA4_000788 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005226 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12011773 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - likely benign g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat68 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
-?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - likely benign g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat67 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
?/. - c.6148G>C r.(?) p.(Val2050Leu) Parent #1 - VUS g.94467548C>G - [514G>A,2023G>A,6148G>C] - ABCA4_000788 - PubMed: Riera 2017 - - Germline - - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/32 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Parent #1 - VUS g.94467548C>G g.94001992C>G - - ABCA4_000788 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat90 PubMed: Bravo-Gil 2017 - - - Spain - - - - - 1 Nereida Bravo Gil
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Parent #1 - VUS g.94467548C>G g.94001992C>G - - ABCA4_000788 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat98 PubMed: Bravo-Gil 2017 - - - Spain - - - - - 1 Nereida Bravo Gil
?/. 46 c.6148G>C r.(?) p.(Val2050Leu) Parent #1 - VUS g.94467548C>G g.94001992C>G - - ABCA4_000788 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat64 PubMed: Bravo-Gil 2017 - - - Spain - - - - - 1 Nereida Bravo Gil
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G V2050L - ABCA4_000788 no variant 2nd chromosome PubMed: Hargitai 2005 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease 5 PubMed: Hargitai 2005 - F ? Hungary - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.(V2050L) - ABCA4_000788 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 549 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.V2050L Het - ABCA4_000788 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90 PubMed: Bravo-Gil 2017 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.V2050L Het - ABCA4_000788 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 98 PubMed: Bravo-Gil 2017 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.V2050L Het - ABCA4_000788 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 64 PubMed: Bravo-Gil 2017 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G ABCA4 c.6148G>C, p.(Val2050Leu) - ABCA4_000788 no variant 2nd chromosome PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 12011773 PubMed: Taylor 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.(Val2050Leu) - ABCA4_000788 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67170 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G [c.6148G>C] [p.(Val2050Leu)] - ABCA4_000788 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67285 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C# p.(Val2050Leu) - ABCA4_000788 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67307 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C - ABCA4_000788 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 764 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Both (homozygous) - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu - ABCA4_000788 - PubMed: Zenteno 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 3,457 PubMed: Zenteno 2019 - - ? Mexico Mexico - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.(Val2050Leu) - ABCA4_000788 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-146-393 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G ENST00000370225.3:c.6148G>C p.Val2050Leu 0/1 - ABCA4_000788 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G005226 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.(Val2050Leu) - ABCA4_000788 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 319 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu het - ABCA4_000788 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-125-132 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu Het - ABCA4_000788 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-078-090 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu Het - ABCA4_000788 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-257-284 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu Het - ABCA4_000788 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-264-208 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu Het - ABCA4_000788 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-191-132 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Both (homozygous) - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu Hom - ABCA4_000788 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-214-080 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu Het - ABCA4_000788 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-010-174 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Parent #2 - VUS g.94467548C>G g.94001992C>G p.Val2050Leu - ABCA4_000788 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 67 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G p.Val2050Leu - ABCA4_000788 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 68 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C,p.Val2050Leu - ABCA4_000788 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11034 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C,p.Val2050Leu - ABCA4_000788 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13057 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C,p.Val2050Leu - ABCA4_000788 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14019 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C,p.Val2050Leu - ABCA4_000788 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18014 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Parent #1 - VUS g.94467548C>G g.94001992C>G c.6148G>C [25] p.(Val2050Leu) - ABCA4_000788 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC06908 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.(Val2050Leu) - ABCA4_000788 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC08194 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Parent #1 - VUS g.94467548C>G g.94001992C>G c.514G > A (p.Gly172Ser); c.2023G > A (p.Val675Ile); c.6148G > C (p.Val2050Leu) - ABCA4_000788 - PubMed: Riera 2019 PubMed: Riera 2017 - - Unknown - - - - - DNA ? - - retinal disease STGD2_FiPS4F1.7 / Fi15/32 PubMed: Riera 2019 PubMed: Riera 2017 - M ? - white - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6380C>T p.(Ser2127Phe) Het c.6148G>C p.(Val2050Leu) Het - ABCA4_000788 - PubMed: Méjécase 2020 - - Unknown - - - - - DNA ? - - retinal disease Family 24 PubMed: Méjécase 2020 - - ? United Arab Emirates Dubai - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Parent #1 - VUS g.94467548C>G g.94001992C>G c.[4216C>T;6148G>C] p.[(H1406Y);(V2050L)] - ABCA4_000788 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 21670 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Parent #1 - VUS g.94467548C>G g.94001992C>G c.[4126C>T; 6148G>C] - ABCA4_000788 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 21257 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G het c.6148G>C p.Val2050Leu - ABCA4_000788 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 41 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C/p.V2050L - ABCA4_000788 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 275 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu het; c.3285C>T p.Tyr1095Tyr het - ABCA4_000788 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2015-070-050 Prevention Genetics - - ? - Hispanic, Irish, Native American - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu het - ABCA4_000788 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-106-216 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu Uncertain - ABCA4_000788 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-206-491 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C p.Val2050Leu Uncertain - ABCA4_000788 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-206-492 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C, p.Val2050Leu Heterozygous - ABCA4_000788 - PubMed: Goetz 2020 - - Unknown - 334, 121350, 0, 0.002752 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2343-2978 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 45 c.6148G>C r.= p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G c.6148G>C, p.Val2050Leu heterozygous - ABCA4_000788 - PubMed: Goetz 2020 - - Unknown - 334, 121350, 0, 0.002752 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 917-1440 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown ACMG pathogenic g.94467548C>G g.94001992C>G - - ABCA4_000788 - Tracewska 2021, MolVis in press - - Germline - 0,0000042 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 383 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+/. 45 c.6148G>C r.(?) p.(Val2050Leu) Unknown - pathogenic g.94467548C>G - c.6148G.C - ABCA4_000788 - PubMed: Corton-2013 - - Germline - - - - - DNA SEQ-NG blood WES retinal disease P-01-0570 PubMed: Corton-2013 - - no - Spanish - - - - 1 LOVD
+?/. - c.6148G>C r.(?) p.(Val2050Leu) Unknown ACMG likely pathogenic g.94467548C>G g.94001992C>G EYS c.4350_4356del, p.(Ile1451Profs*3), c.232del, p.(Cys78Alafs*7), ABCA4 c.6148G>C, p.(Val2050Leu) - ABCA4_000788 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 118 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G m6: c.6148G > C; p.Val2050Leu - ABCA4_000788 - PubMed: Gonzalez del Pozo 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood unsolved retinal disease C (II:1) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
?/. - c.6148G>C r.(?) p.(Val2050Leu) Unknown - VUS g.94467548C>G g.94001992C>G m6: c.6148G > C; p.Val2050Leu - ABCA4_000788 - PubMed: Gonzalez del Pozo 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood unsolved: single allele variant in autosomal recessive disease retinal disease W (II:3) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
?/. - c.6148G>C r.(?) p.(Val2050Leu) Paternal (confirmed) - VUS g.94467548C>G g.94001992C>G m6: c.6148G > C; p.Val2050Leu - ABCA4_000788 - PubMed: Gonzalez del Pozo 2018 - - Germline yes - - - - DNA SEQ-NG blood unsolved: single allele variant in autosomal recessive disease retinal disease X (II:1) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
?/. 45 c.6148G>C r.(?) p.(Val2050Leu) Maternal (confirmed) ACMG VUS g.94467548C>G g.94001992C>G - - ABCA4_000788 - PubMed: Tracewska 2019 - - Germline yes 0,0000042 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 284 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
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