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.

49 entries on 1 page. Showing entries 1 - 49.
Legend   How to query  

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.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T - - ABCA4_000297 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.34). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Oishi 2014 - - Germline - ExAC 36, 121412, 1, 0.0002965 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T - - ABCA4_000297 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.34). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Oishi 2014 - - Germline - ExAC 36, 121412, 1, 0.0002965 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T - - ABCA4_000297 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.34). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Oishi 2014 - - Germline - ExAC 36, 121412, 1, 0.0002965 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T - - ABCA4_000297 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.34). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Oishi 2014 - - Germline - ExAC 36, 121412, 1, 0.0002965 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(1699g>a) p.(Val567Met) Parent #1 ACMG VUS g.94528729C>T g.94063173C>T - - ABCA4_000297 not statistically tested, classification unknown PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T - - ABCA4_000297 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs74516571 Germline - 33/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 33 Yoshito Koyanagi
+?/. 12 c.1699G>A r.(?) p.(Val567Met) Parent #1 - likely pathogenic g.94528729C>T - G1699A - ABCA4_000297 - PubMed: Mandal 2005 - - Germline - - - - - DNA arraySEQ blood - retinal disease - PubMed: Mandal 2005 - - - - - - - - - 1 Julia Lopez
+?/. 12 c.1699G>A r.(?) p.(Val567Met) Parent #1 - likely pathogenic g.94528729C>T - 1699G>A (V567M) - ABCA4_000297 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T 1699G?A V567M - ABCA4_000297 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 27 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A (p.Val567Met) - ABCA4_000297 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4541 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T G1699A Val567Met - ABCA4_000297 no variant 2nd chromosome PubMed: Mandal 2005 - - Unknown - - - - - DNA arraySEQ - arRP-I chip retinal disease R206 PubMed: Mandal 2005 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.Val567Met - ABCA4_000297 no variant 2nd chromosome PubMed: Gao 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1237 PubMed: Gao 2019 variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well. - ? - - - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1381 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1382 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1383 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1384 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1385 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1386 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1387 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1388 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1389 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1390 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1391 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1392 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1393 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1394 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1395 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1396 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1397 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1398 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1399 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1400 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1401 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1402 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1403 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1404 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1405 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1406 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1407 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1408 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1409 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1410 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1411 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1412 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.(Val567Met) - ABCA4_000297 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1413 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 12 c.1699G>A r.(?) p.(Val567Met) Unknown - VUS g.94528729C>T g.94063173C>T c.1699G>A p.Val567Met - ABCA4_000297 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P013 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
+?/. - c.1699G>A r.(?) p.(Val567Met) Unknown ACMG VUS g.94528729C>T - - - ABCA4_000297 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - STGD IR_GH_0138 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.1699G>A r.(?) p.(Val567Met) Unknown ACMG pathogenic g.94528729C>T g.94063173C>T ABCA4 c.G1699A, p.V567M - ABCA4_000297 marked as possibly causative, single heterozygous change in a recessive gene, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 85 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
?/. - c.1699G>A r.(?) p.(Val567Met) Unknown ACMG VUS g.94528729C>T g.94063173C>T ABCA4 c.G1699A, p.V567M - ABCA4_000297 marked as possibly causative, single heterozygous change in a recessive gene, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 165 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
Legend   How to query  


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