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.

373 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     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     
+/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - pathogenic g.94528713C>T g.94063157C>T Y340D, R772Q - ABCA4_000072 - PubMed: Lewis 1999 - - Germline yes - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 4 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic g.94528713C>T g.94063157C>T 1715G>A, 2588G>C, 2828G>A - ABCA4_000072 - PubMed: Shroyer 2000 - - Germline yes - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 4 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic g.94528713C>T g.94063157C>T 1715G>A, 2588G>C, 2828G>A - ABCA4_000072 - PubMed: Shroyer 2000 - - Germline yes - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 4 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic g.94528713C>T g.94063157C>T R572Q, G863A - ABCA4_000072 - PubMed: Lewis 1999 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic g.94528713C>T g.94063157C>T 1715G>A, 2588G>C, 2828G>A - ABCA4_000072 - PubMed: Shroyer 2000 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic g.94528713C>T g.94063157C>T 1715G>A, 2588G>C, 2828G>A - ABCA4_000072 - PubMed: Shroyer 2000 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic g.94528713C>T g.94063157C>T R572Q-2588G>C - ABCA4_000072 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic g.94528713C>T g.94063157C>T Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA - ABCA4_000072 - PubMed: Schindler 2010 - - Germline - - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - VUS g.94528713C>T g.94063157C>T ABCA4(NM_000350.2):c.1715G>A (p.R572Q), ABCA4(NM_000350.3):c.1715G>A (p.R572Q) - ABCA4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic g.94528713C>T g.94063157C>T ABCA4(NM_000350.2):c.1715G>A (p.R572Q), ABCA4(NM_000350.3):c.1715G>A (p.R572Q) - ABCA4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - VUS g.94528713C>T g.94063157C>T - - ABCA4_000072 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61748559 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat7 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Parent #2 - likely pathogenic g.94528713C>T g.94063157C>T 2588G>C/1715G>A - ABCA4_000072 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 662 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 733 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - pathogenic g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Zolnikova 2017 - rs61748559 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P050 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
+/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - pathogenic (recessive) g.94528713C>T g.94063157C>T R572Q+G863A - ABCA4_000072 - PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 39 PubMed: Scholl 2001 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A Arg572Gln Heterozygous - ABCA4_000072 no variant 2nd chromosome PubMed: Zolnikova 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P050 PubMed: Zolnikova 2017 - F ? Russia Russia-Slavonia - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A p.(R572Q) - ABCA4_000072 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 411 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G.A - ABCA4_000072 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 6 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A,p.Arg572Gln - ABCA4_000072 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17012 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A, p.Arg572Gln Heterozygous - ABCA4_000072 - PubMed: Goetz 2020 - - Unknown - 6, 121412, 0, 0.00004942 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1410-1978 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T p.Arg572Gln - ABCA4_000072 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 7 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.[1715G>A;2588G>C] p.[(R572Q;G863A,G863del] - ABCA4_000072 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 20546 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T het c.1715G>A p.Arg572Gln - ABCA4_000072 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 98 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A p.Arg572Gln het - ABCA4_000072 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2013-168-016 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A p.Arg572Gln het; c.5603A>T p.Asn1868Ile Het - ABCA4_000072 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-050-038 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A, p.Arg572Gln heterozygous - ABCA4_000072 - PubMed: Goetz 2020 - - Unknown - 6, 121412, 0, 0.00004942 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 1448-1988 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A, p.Arg572Gln Heterozygous - ABCA4_000072 - PubMed: Goetz 2020 - - Unknown - 6, 121412, 0, 0.00004942 - - - DNA SEQ - - retinal disease 3726-4533 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A, p.Arg572Gln Heterozygous - ABCA4_000072 - PubMed: Goetz 2020 - - Unknown - 6, 121412, 0, 0.00004942 - - - DNA SEQ - - retinal disease 4036-4942 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T c.1715G>A, p.Arg572Gln Heterozygous - ABCA4_000072 - PubMed: Goetz 2020 - - Unknown - 6, 121412, 0, 0.00004942 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5226-6316 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - VUS g.94528713C>T g.94063157C>T ABCA4 c.1715G>A, p.Arg572Gln - ABCA4_000072 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI743_001463 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T - c.1715G>A - ABCA4_000072 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, SEQ - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 - likely pathogenic (recessive) g.94528713C>T - c.52C>T/p.(Arg18Trp) //c.1715G>A/p.(Arg572Gln) //c.2828G>A/p.(Arg943Gln) - ABCA4_000072 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 32 PubMed: Müller 2020 - M ? Germany - - - - - 1 LOVD
?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - VUS g.94528713C>T - ABCA4(NM_000350.2):c.1715G>A (p.R572Q), ABCA4(NM_000350.3):c.1715G>A (p.R572Q) - ABCA4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 ACMG likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat217 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown ACMG likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat239 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Parent #1 ACMG likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat240 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown ACMG likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat252 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown ACMG likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat253 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-16 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-18 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-57 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-74 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-77 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-88 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-103 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1715G>A r.(?) p.(Arg572Gln) Unknown - likely pathogenic (recessive) g.94528713C>T g.94063157C>T - - ABCA4_000072 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-87 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1715G>A r.(?) p.(Arg572Gln) Unknown ACMG likely pathogenic g.94528713C>T g.94063157C>T - - ABCA4_000072 ACMG PS4, PM5, PP3_m; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C - - ABCA4_000072 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Parent #1 - VUS g.94512499T>C g.94046943T>C - - ABCA4_000072 - PubMed: Chen 2013 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - STGD1 - PubMed: Chen 2013 3-generation family, 2 affected ? ? China Chinese - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Both (homozygous) - likely pathogenic g.94512499T>C g.94046943T>C - - ABCA4_000072 - PubMed: Huang 2015 - - Germline yes ExAC 21, 121302, 0, 0.0001731 - - - DNA SEQ-NG-I, PCR, SEQ - - RD - PubMed: Huang 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C - - ABCA4_000072 - PubMed: Huang 2015 - - Germline - ExAC 21, 121302, 0, 0.0001731 - - - DNA SEQ-NG-I, PCR, SEQ - - RD - PubMed: Huang 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C 2894A>G - ABCA4_000072 - PubMed: Lewis 1999 - - Germline ? ExAC 21, 121302, 0, 0.0001731 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C 2894A>G - ABCA4_000072 - PubMed: Shroyer 2000 - - Germline ? ExAC 21, 121302, 0, 0.0001731 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C 2894A>G - ABCA4_000072 - PubMed: Shroyer 2000 - - Germline ? ExAC 21, 121302, 0, 0.0001731 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C 2894A>G - ABCA4_000072 - PubMed: Webster 2001 - - Germline - ExAC 21, 121302, 0, 0.0001731 - - - 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
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C 2894A>G - ABCA4_000072 - PubMed: Webster 2001 - - Germline - ExAC 21, 121302, 0, 0.0001731 - - - 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
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C 2894A>G - ABCA4_000072 - PubMed: Webster 2001 - - Germline - ExAC 21, 121302, 0, 0.0001731 - - - 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
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C A2894G - ABCA4_000072 - PubMed: Birch 2001 - - Germline - ExAC 21, 121302, 0, 0.0001731 - - - DNA PCR, SEQ - - CORD - PubMed: Birch 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Simonelli 2005, PubMed: Testa 2012 - - Germline - ExAC 21, 121302, 0, 0.0001731 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Both (homozygous) - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline ? 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 found no variant 2nd chromosome PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 found no variant 2nd chromosome PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 found no variant 2nd chromosome PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 found no variant 2nd chromosome PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 found no variant 2nd chromosome PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Both (homozygous) - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline ? 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 found no variant 2nd chromosome PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C N965S - ABCA4_000072 found no variant 2nd chromosome PubMed: Rosenberg 2007 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Both (homozygous) - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline ? 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX CORD - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Both (homozygous) - likely pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Rosenberg 2007 - - Germline ? 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C Asn965Ser - ABCA4_000072 - PubMed: Michaelides 2007 - - Germline ? 21, 121302, 0, 0.0001731 - - - DNA PCR, SSCA, SEQ - - ? - PubMed: Michaelides 2007 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C N965S - ABCA4_000072 - PubMed: Passerini 2010 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C Asn965Ser AAT>AGT - ABCA4_000072 - PubMed: Schindler 2010 - - Germline ? 21, 121302, 0, 0.0001731 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C Asn965Ser AAT>AGT - ABCA4_000072 - PubMed: Schindler 2010 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - retinal disease - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Maternal (confirmed) - likely pathogenic g.94512499T>C g.94046943T>C c.2894A>G - ABCA4_000072 - PubMed: Zernant 2011 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 2-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C c.2894A>G - ABCA4_000072 - PubMed: Zernant 2011 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C c.2894A>G - ABCA4_000072 - PubMed: Zernant 2011 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C c.2894A>G - ABCA4_000072 - PubMed: Duno 2012 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C c.2894A>G - ABCA4_000072 - PubMed: Duno 2012 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - pathogenic g.94512499T>C g.94046943T>C c.2894A>G - ABCA4_000072 - PubMed: Duno 2012 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - likely pathogenic g.94512499T>C g.94046943T>C c.2894A>G - ABCA4_000072 - PubMed: Duno 2012 - - Germline - 21, 121302, 0, 0.0001731 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX ? - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
?/. 19 c.2894A>G r.(?) p.(Asn965Ser) Unknown - VUS g.94512499T>C g.94046943T>C c.2894A>G, p.Asn965Ser - ABCA4_000072 - PubMed: Roberts 2012 - - Germline - 21, 121302, 0, 0.0001731 - - - 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
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »


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