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.

106 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     
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Alapati 2014 - - Germline - ExAC 1, 120898, 0, 0.000008271 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G TGG > CGG - ABCA4_000190 - PubMed: Briggs 2001 - - Germline - ExAC 1, 120898, 0, 0.000008271 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G TGG > CGG - ABCA4_000190 - PubMed: Briggs 2001 - - Germline - ExAC 1, 120898, 0, 0.000008271 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G W1408R - ABCA4_000190 - PubMed: Lewis 1999 - - Germline ? ExAC 1, 120898, 0, 0.000008271 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G W1408 - ABCA4_000190 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline ? ExAC 1, 120898, 0, 0.000008271 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G W1408 - ABCA4_000190 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline ? ExAC 1, 120898, 0, 0.000008271 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G W1408 - ABCA4_000190 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline - ExAC 1, 120898, 0, 0.000008271 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G W1408 - ABCA4_000190 - PubMed: Lewis 1999, PubMed: Shroyer 2001 - - Germline ? ExAC 1, 120898, 0, 0.000008271 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999, PubMed: Shroyer 2001 3-generation family, 6 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - VUS g.94496583A>G g.94031027A>G 4222T>C - ABCA4_000190 - PubMed: Webster 2001 - - Germline - ExAC 1, 120898, 0, 0.000008271 - - - 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
?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - VUS g.94496583A>G g.94031027A>G 4222T>C - ABCA4_000190 - PubMed: Webster 2001 - - Germline - ExAC 1, 120898, 0, 0.000008271 - - - 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
+/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Maternal (confirmed) - pathogenic g.94496583A>G g.94031027A>G [W1408R; R1640W] - ABCA4_000190 - PubMed: Webster 2001 - - Germline yes - - - - DNA PCR, SEQ - - STGD1 - PubMed: Shroyer 2001 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic g.94496583A>G g.94031027A>G [W1408R; R1640W] - ABCA4_000190 - PubMed: Shroyer 2001 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Shroyer 2001 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic g.94496583A>G g.94031027A>G [W1408R; R1640W] - ABCA4_000190 - PubMed: Shroyer 2001 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Shroyer 2001 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic g.94496583A>G g.94031027A>G (4918C>T);(4222T>C) - ABCA4_000190 - PubMed: Valverde 2006, PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PCR, PE - APEX STGD1 - PubMed: Valverde 2006 - M ? Spain - - - - - 1 Stéphanie Cornelis
?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - VUS g.94496583A>G g.94031027A>G c.4222T>C - ABCA4_000190 - PubMed: Rosenberg 2007 - - Germline - 1, 120898, 0, 0.000008271 - - - 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
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G Trp1408Arg TGG>CGG - ABCA4_000190 - PubMed: Schindler 2010 - - Germline ? 1, 120898, 0, 0.000008271 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - VUS g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg - ABCA4_000190 - PubMed: Roberts 2012 - - Germline - 1, 120898, 0, 0.000008271 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - VUS g.94496583A>G g.94031027A>G c.[4222T>C; 4918C>T] - ABCA4_000190 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G c.4222T>C - ABCA4_000190 - PubMed: Fujinami 2013 - - Germline - 1, 120898, 0, 0.000008271 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic g.94496583A>G g.94031027A>G c.4222T>C - ABCA4_000190 - PubMed: Fujinami 2013 - - Germline - 1, 120898, 0, 0.000008271 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic g.94496583A>G g.94031027A>G c.4222T>C (c.4918C>T) - ABCA4_000190 - PubMed: Miraldi 2014 - - Germline ? - - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Paternal (inferred) - likely pathogenic g.94496583A>G g.94031027A>G p.[W1408R;R1640W] - ABCA4_000190 - PubMed: Duncker 2015 - - Germline ? - - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - Hispanic - - - - 1 Stéphanie Cornelis
+/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic g.94496583A>G g.94031027A>G W1408R - ABCA4_000190 - PubMed: Cideciyan 2009 - - Germline - 1, 120898, 0, 0.000008271 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 28 c.4222T>C r.(4222u>c) p.(Trp1408Arg) Parent #1 ACMG pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.4222T>C r.(?) p.(Trp1408Arg) Parent #2 - likely pathogenic g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 713 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4222T>C r.(?) p.(Trp1408Arg) Parent #2 - likely pathogenic g.94496583A>G g.94031027A>G 872C>T/4222T>C - ABCA4_000190 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 775 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G W1408R - ABCA4_000190 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0076 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C - ABCA4_000190 - PubMed: Cukras 2012 - - Unknown - - - - - DNA SEQ - - retinal disease 2 PubMed: Cukras 2012 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C p.(W1408R) - ABCA4_000190 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 466 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp]) - ABCA4_000190 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4472 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp]) - ABCA4_000190 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3450 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C,p.Trp1408Arg - ABCA4_000190 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13081 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Both (homozygous) - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C,p.Trp1408Arg - ABCA4_000190 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14027 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C,p.Trp1408Arg - ABCA4_000190 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16042 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C,p.Trp1408Arg - ABCA4_000190 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17005 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C,p.Trp1408Arg - ABCA4_000190 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19004 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp] - ABCA4_000190 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67152 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp] - ABCA4_000190 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67203 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp] - ABCA4_000190 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0932 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T >C - ABCA4_000190 - PubMed: Alabduljalil 2019 - - Unknown - - - - - DNA ? - - retinal disease 14 PubMed: Alabduljalil 2019 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ - - retinal disease 1303-1842 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ - - retinal disease 1397-1933 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ - - retinal disease 2877-4495 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3017-3731 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3145-3879 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5304-6410 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Paternal (confirmed) - likely pathogenic (recessive) g.94496583A>G g.94031027A>G Het W1408R - ABCA4_000190 no variant 2nd chromosome; no segregation analysis done PubMed: Roberts 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease RPS593 PubMed: Roberts 2009 - F ? South Africa - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #2 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G p.[W1408R;R1640W] - ABCA4_000190 - PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P19 PubMed: Lee 2014 possibly reported before by Zernant and/or Burke - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #2 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G p.[His1406Tyr];[Trp1408Arg;Arg1640Trp] - ABCA4_000190 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 14 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T.C and c.4918C.T - ABCA4_000190 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 24 PubMed: Klufas 2017 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T.C and c.4918C.T - ABCA4_000190 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 23 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T.C and c.4918C.T - ABCA4_000190 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 25 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #2 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp]) - ABCA4_000190 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3477 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #2 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp]) - ABCA4_000190 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3876 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp]) - ABCA4_000190 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3335 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #2 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp]) - ABCA4_000190 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3085 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C / c.4918C>T Trp1408Arg TGG>CGG / Arg1640Trp CGG>TGG - ABCA4_000190 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 713 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C,p.Trp1408Arg - ABCA4_000190 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13075 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C,p.Trp1408Arg - ABCA4_000190 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18013 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4918C.T;c.4222T.C p.Arg1640Trp;p.Trp1408Arg - ABCA4_000190 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P1 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4918C.T;c.4222T.C p.Arg1640Trp;p.Trp1408Arg - ABCA4_000190 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P33 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C p.Trp1408Arg - ABCA4_000190 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1132 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222 T>C p.(Trp1408Arg) c.4679T>A p.(Ile1560Asn)# - ABCA4_000190 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Jespersgaard 2019 The variant CNGB3 c.1148del p.(Thr383Ilefs*13) was found as well. - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C p.Trp1408Arg - ABCA4_000190 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0318 PubMed: Georgiou 2019 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C p.Trp1408Arg het - ABCA4_000190 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-224-007 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2167-2791 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 24-673 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2760-4336 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ - - retinal disease 2880-4495 PubMed: Goetz 2020 2880 is a family member of 2879 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4491-5436 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ - - retinal disease 6096-631 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ - - retinal disease 6376-443 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G g.94031027A>G c.4222T>C, p.Trp1408Arg Heterozygous - ABCA4_000190 - PubMed: Goetz 2020 - - Unknown - 1, 120898, 0, 0.000008271 - - - DNA SEQ - - retinal disease 809-1326 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - pathogenic g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease 09000190 PubMed: Ellingford 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G - c.4222T>C(;)4918C>T - ABCA4_000190 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70575 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G - c.4222T>C - ABCA4_000190 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71312 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G - c.4918C>T(;)c.4222T>C - ABCA4_000190 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71331 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown - likely pathogenic (recessive) g.94496583A>G - c.4222T>C - ABCA4_000190 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67287 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - pathogenic g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] - ABCA4_000190 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Pat18 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - pathogenic g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T;768+538C>G] - ABCA4_000190 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Pat33 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 ACMG pathogenic (recessive) g.94496583A>G g.94031027A>G c.[4222T>C;4918C>T] - ABCA4_000190 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat38 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 ACMG pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat246 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 28 c.4222T>C r.(?) p.(Trp1408Arg) Unknown ACMG pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat202 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0161 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Parent #1 - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0524 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Both (homozygous) - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0792 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0817 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0830 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Parent #2 - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0049 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Both (homozygous) - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0792 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-58 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-31 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-mild-58 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 both variants are likely on same allele PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-36 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-138 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-91 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-336 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4222T>C r.(?) p.(Trp1408Arg) Unknown - pathogenic (recessive) g.94496583A>G g.94031027A>G - - ABCA4_000190 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-380 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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