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.

225 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 28i c.4253+43G>A r.(?) p.(=) Unknown - likely pathogenic g.94496509C>T g.94030953C>T - - ABCA4_001024 - - - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - - - - - - - - - - - 1 Jana Zernant
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #1 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #1 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #1 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #1 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #1 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+43G>A r.(?) p.(=) Parent #2 - VUS g.94496509C>T g.94030953C>T - - ABCA4_001024 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.4253+43G>A r.(=) p.(=) Unknown - pathogenic g.94496509C>T g.94030953C>T ABCA4(NM_000350.3):c.4253+43G>A - ABCA4_001024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 28i c.4253+43G>A r.[(=,4129_4253del,3863_4253del)] p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)] Parent #2 - pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A;6006-609T>A] - ABCA4_001024 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamDPatIII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+43G>A r.[(=,4129_4253del,3863_4253del)] p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)] Parent #2 - pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A;6006-609T>A] - ABCA4_001024 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamFPatII2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+43G>A r.[(=,4129_4253del,3863_4253del)] p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)] Parent #2 - pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A;6006-609T>A] - ABCA4_001024 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamGPatI2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+43G>A r.[(=,4129_4253del,3863_4253del)] p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)] Parent #2 - pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A;6006-609T>A] - ABCA4_001024 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamHPatI2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+43G>A r.[(=,4129_4253del,3863_4253del)] p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)] Parent #2 - pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A;6006-609T>A] - ABCA4_001024 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamJPatII3 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+43G>A r.[(=,4129_4253del,3863_4253del)] p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)] Parent #2 - pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A;5603A>T] - ABCA4_001024 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamMPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+43G>A r.[(=,4129_4253del,3863_4253del)] p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)] Parent #2 - pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A;6006-609T>A] - ABCA4_001024 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamNPatII3 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+43G>A r.[(=,4129_4253del,3863_4253del)] p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)] Parent #2 - pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A;6006-609T>A] - ABCA4_001024 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamRPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Paternal (inferred) - likely pathogenic (recessive) g.94496509C>T g.94030953C>T p.[=,Ile1377Hisfs*3] - ABCA4_001024 - PubMed: Nassisi 2019 - - Unknown yes - - - - DNA ? - - retinal disease CIC03648 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC08281 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Nassisi 2019 - - Unknown - - - - - DNA ? - - retinal disease CIC09817 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T ND c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 27 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T ND c.4253+43G>A - ABCA4_001024 no variant 2nd chromosome PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 28 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T ND c.4253+43G>A - ABCA4_001024 no variant 2nd chromosome PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66666 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A p.[=, Ile1377Hisfs*3] - ABCA4_001024 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1381 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Paternal (confirmed) - likely pathogenic (recessive) g.94496509C>T g.94030953C>T p.[=,Ile1377Hisfs*3] - ABCA4_001024 - PubMed: Nassisi 2019 - - Unknown yes - - - - DNA ? - - retinal disease CIC09117 PubMed: Nassisi 2019 - F no France - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>Aa - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>Aa - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>Aa - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 10 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 11 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>Aa - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 12 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>Aa - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 14 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 16 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 17 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 18 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 19 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 20 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 21 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 22 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>Aa - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 23 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>Aa - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 24 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 25 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A - ABCA4_001024 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 26 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A, deepintron - ABCA4_001024 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14080 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A, deepintron - ABCA4_001024 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15080 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A, deepintron - ABCA4_001024 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15084 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A, deepintron - ABCA4_001024 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15102 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_001024 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease D-III:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_001024 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease F-II:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_001024 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease G-I:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_001024 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease H-I:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_001024 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease J-II:3 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3;Asn1868Ile]b - ABCA4_001024 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease M-II:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_001024 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease N-II:3 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_001024 - PubMed: Sangermano 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease R-II:1 PubMed: Sangermano 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #1 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b - ABCA4_001024 - PubMed: Sangermano 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease X-II:1 PubMed: Sangermano 2019 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A; 6006-609T>A] - ABCA4_001024 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P1G2 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A; 6006-609T>A] - ABCA4_001024 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P5G16 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A; 6006-609T>A] - ABCA4_001024 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P11T2 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A; 6006-609T>A] - ABCA4_001024 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P7G7 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A; 6006-609T>A] - ABCA4_001024 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P8T2 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A] - ABCA4_001024 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P3G15 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Parent #2 - likely pathogenic (recessive) g.94496509C>T g.94030953C>T [253+43G>A] - ABCA4_001024 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P10T3 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T [4253+43G>A] - ABCA4_001024 no segregation analysis done PubMed: Bauwens 2019PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P6T3; 277 PubMed: Bauwens 2019PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66669 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66675 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66759 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66786 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66787 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+43G>A r.[=,4129_4253del] p.[=,Ile1377Hisfs*3] Unknown - likely pathogenic (recessive) g.94496509C>T g.94030953C>T c.4253+43G>A p.[=,Ile1377Hisfs*3] - ABCA4_001024 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66792 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
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