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.

79 entries on 1 page. Showing entries 1 - 79.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Panel size     

Owner     
?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic g.94546118A>C g.94080562A>C 1015T→G - ABCA4_000082 - PubMed: Yatsenko 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Paternal (confirmed) - likely pathogenic g.94546118A>C g.94080562A>C 1015T→G - ABCA4_000082 - PubMed: Yatsenko 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Paternal (confirmed) - likely pathogenic g.94546118A>C g.94080562A>C 1015T→G - ABCA4_000082 - PubMed: Yatsenko 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 8 c.1015T>G r.(1015u>g) p.(Trp339Gly) Parent #1 ACMG pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 789 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 790 PubMed: Stone 2017 family, 4 affected F - (United States) - - - - - 4 LOVD
+?/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #2 - likely pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 660 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G (p.Trp339Gly) - ABCA4_000082 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3664 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G Trp339Gly TGG>GGG - ABCA4_000082 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 789 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G Trp339Gly TGG>GGG - ABCA4_000082 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 790 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly - ABCA4_000082 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17011 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.[1015T>G; c.3608-7G>A] - ABCA4_000082 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P11G15 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.[1015T>G; 3608-7G>A] - ABCA4_000082 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P1G16 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G p.(Trp339Gly) - ABCA4_000082 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67198 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G p.Trp339Gly het - ABCA4_000082 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-097-215 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G p.Trp339Gly het - ABCA4_000082 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-275-094 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G p.Trp339Gly Het - ABCA4_000082 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-066-216 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly Heterozygous - ABCA4_000082 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1090-2522 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly Heterozygous - ABCA4_000082 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2724-4301 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly Heterozygous - ABCA4_000082 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 352-1765 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly Heterozygous - ABCA4_000082 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 6500-7644 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly heterozygous - ABCA4_000082 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 851-1368 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G Trp339Gly TGG>GGG - ABCA4_000082 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 660 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly Heterozygous - ABCA4_000082 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1372-1907 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly Heterozygous - ABCA4_000082 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 352-1765 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.Trp339Gly Heterozygous - ABCA4_000082 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 4591-5609 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C g.94080562A>C c.1015T>G, p.W339G Heterozygous - ABCA4_000082 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 637-1152 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic (recessive) g.94546118A>C - c.[1015T>G;5603A>T] - ABCA4_000082 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - - retinal disease 67208 PubMed: Khan 2020 - M - France - - - - - 1 LOVD
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C - c.1015T>G - ABCA4_000082 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70546 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic (recessive) g.94546118A>C - c.[1015T>G;5603A>T] - ABCA4_000082 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67193 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C - c.1015T>G - ABCA4_000082 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67201 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - likely pathogenic (recessive) g.94546118A>C - c.[1015T>G;5603A>T] - ABCA4_000082 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67205 PubMed: Khan 2019PubMed: Khan 2020 - M - France - - - - - 1 LOVD
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C - c.1015T>G - ABCA4_000082 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67225 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+?/. 8 c.1015T>G r.(?) p.(Trp339Gly) Unknown - likely pathogenic (recessive) g.94546118A>C - c.1015T>G - ABCA4_000082 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67271 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0001 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0044 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0218 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0456 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0462 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Both (homozygous) - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0486 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0527 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0628 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Both (homozygous) - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease L-0644 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SSCA, SEQ - - retinal disease L-0648 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0670 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Both (homozygous) - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0693 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0706 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0721 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0756 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0767 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Both (homozygous) - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0917 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0979 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1015 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1062 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1090 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #2 - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0121 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0269 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #2 - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0305 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Both (homozygous) - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0486 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0574 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Both (homozygous) - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease L-0644 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Both (homozygous) - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0693 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #2 - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0714 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Both (homozygous) - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0917 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown - pathogenic (recessive) g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-83 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 ACMG pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073308 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 ACMG pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073309 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 8 c.1015T>G r.(?) p.(Trp339Gly) Parent #1 ACMG pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073310 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 ACMG pathogenic g.94546118A>C g.94080562A>C c.[1015T>G;5603A>T] - ABCA4_000082 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067193 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown ACMG pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067201 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1015T>G r.(?) p.(Trp339Gly) Parent #1 ACMG pathogenic g.94546118A>C g.94080562A>C c.[1015T>G;5603A>T] - ABCA4_000082 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067205 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1015T>G r.(?) p.(Trp339Gly) Unknown ACMG pathogenic g.94546118A>C g.94080562A>C - - ABCA4_000082 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072008 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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