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.

60 entries on 1 page. Showing entries 1 - 60.
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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     
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic g.94471025C>T g.94005469C>T 6119G>A - ABCA4_000096 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.21). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Westeneng-van Haaften 2012 - - Germline ? 41, 121396, 0, 0.0003377 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - pathogenic g.94471025C>T g.94005469C>T c.6119 G>A - ABCA4_000096 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.21). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Zaneveld 2015 - - Germline - 41, 121396, 0, 0.0003377 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 44 c.6119G>A r.(6119g>a) p.(Arg2040Gln) Parent #1 ACMG pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs148460146 Germline - 9/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 9 Yoshito Koyanagi
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - pathogenic g.94471025C>T g.94005469C>T - - ABCA4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Parent #1 - likely pathogenic g.94471025C>T g.94005469C>T - - ABCA4_000096 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148460146 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown ACMG likely pathogenic g.94471025C>T - - - ABCA4_000096 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 8124 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Parent #1 - likely pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Bryant 2018 - rs148460146 Germline - - - - - DNA SEQ-NG - WES retinal disease JB260 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Parent #2 - likely pathogenic g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 763 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T p.R2040Q - ABCA4_000096 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 19212 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-389-844 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G.A p.Arg2040Gln - ABCA4_000096 - PubMed: Bryant 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease JB260 PubMed: Bryant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A; p.Arg2040Gln - ABCA4_000096 no variant 2nd chromosome PubMed: Gao 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease RD18184160_B PubMed: Gao 2019 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1339 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1340 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1341 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1342 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1343 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1344 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1345 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1346 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1347 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A, p.Arg2040Gln Heterozygous - ABCA4_000096 - PubMed: Goetz 2020 - - Unknown - 41, 121396, 0, 0.0003377 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1505-2047 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A, p.Arg2040Gln Heterozygous - ABCA4_000096 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 41, 121396, 0, 0.0003377 - - - DNA SEQ - - retinal disease 2638-3327 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Parent #2 - VUS g.94471025C>T g.94005469C>T p.R2040Q - ABCA4_000096 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10183 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A (p.Arg2040Gln) - ABCA4_000096 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3400 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.[3416A>G;6119G>A] (p.[Tyr1139Cys;Arg2040Gln]) - ABCA4_000096 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3516 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Parent #2 - VUS g.94471025C>T g.94005469C>T c.6119G>A (p.Arg2040Gln) - ABCA4_000096 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 9057 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A (p.Arg2040Gln) - ABCA4_000096 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3328 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A/p.R2040Q - ABCA4_000096 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 482 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A - ABCA4_000096 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F23 P26 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.(Arg2040Gln) - ABCA4_000096 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8124 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.Arg2040Gln het - ABCA4_000096 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-244-111 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A p.Arg2040Gln Uncertain - ABCA4_000096 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-286-119 Prevention Genetics - - ? - German, Jamaican, British - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A, p.Arg2040Gln Heterozygous - ABCA4_000096 - PubMed: Goetz 2020 - - Unknown - 41, 121396, 0, 0.0003377 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4684-5690 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T c.6119G>A, p.Arg2040Gln Heterozygous - ABCA4_000096 - PubMed: Goetz 2020 - - Unknown - 41, 121396, 0, 0.0003377 - - - DNA SEQ - - retinal disease 523-1033 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Xu 2014 - rs148460146 Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP200 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Xu 2014 - rs148460146 Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP205 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Xu 2014 - rs148460146 Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP201 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
?/. 44 c.6119G>A r.(?) p.(Arg2040Gln) Unknown - VUS g.94471025C>T g.94005469C>T G6119A - ABCA4_000096 - PubMed: Katagiri 2014 - rs148460146 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#022 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic g.94471025C>T g.94005469C>T c.6119G>A, p.Arg2040Gln - ABCA4_000096 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18184160_B PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+/. - c.6119G>A r.(6119g>a) p.(Arg2040Gln) Maternal (confirmed) ACMG pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010626 PubMed: Tian 2022, PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown ACMG pathogenic g.94471025C>T g.94005469C>T ABCA4 c.6119G>A, p.(Arg2040Gln) - ABCA4_000096 heterozygous PubMed: Buhler 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood Trusight One retinal disease 1/II.2 PubMed: Buhler 2021 Family 1, individual II.2 ? - Switzerland - - - - - 1 LOVD
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown ACMG likely pathogenic g.94471025C>T g.94005469C>T ABCA4 c.4555del(;)6119G>A, V1: c.6119G>A, (p.Arg2040Gln) - ABCA4_000096 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F243 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Parent #2 ACMG pathogenic g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070674 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - likely pathogenic g.94471025C>T g.94005469C>T ABCA4 c.4555del(;)6119G>A; p.(Arg2040Gln) - ABCA4_000096 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.001978; GnomAD_exome_East: 0.00185; GnomAD_All: 0.000314 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F243 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Parent #2 - pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Parent #1 - likely pathogenic (recessive) g.94471025C>T g.94005469C>T [1933G>A;6119G>A] - ABCA4_000096 no variant 2nd chromosome PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. - c.6119G>A r.(?) p.(Arg2040Gln) Parent #1 - likely pathogenic (recessive) g.94471025C>T g.94005469C>T [1099+1G>A;6119G>A] - ABCA4_000096 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Parent #2 - pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0957 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-198 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-58 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-198 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-269 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-232 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-93 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.6119G>A r.(?) p.(Arg2040Gln) Unknown - pathogenic (recessive) g.94471025C>T g.94005469C>T - - ABCA4_000096 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-325 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-93 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6119G>A r.(6119g>a) p.(Arg2040Gln) Parent #1 ACMG likely pathogenic g.94471025C>T g.94005469C>T - - ABCA4_000096 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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