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.

61 entries on 1 page. Showing entries 1 - 61.
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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     
-?/. 6i c.769-784C>T r.(?) p.(=) Parent #2 - likely benign g.94549781G>A g.94084225G>A - - ABCA4_001046 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 6i c.769-784C>T r.(?) p.(=) Parent #2 - likely benign g.94549781G>A g.94084225G>A - - ABCA4_001046 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 6i c.769-784C>T r.(?) p.(=) Parent #2 - likely benign g.94549781G>A g.94084225G>A - - ABCA4_001046 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-?/. 6i c.769-784C>T r.(?) p.(=) Parent #1 - likely benign g.94549781G>A g.94084225G>A - - ABCA4_001046 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 6i c.769-784C>T r.[(=,768_769ins769-778_769-617)] p.[(=,Leu257Aspfs*3)] Parent #2 - pathogenic (recessive) g.94549781G>A g.94084225G>A [769-784C>T;5603A>T] - ABCA4_001046 analysis mini-gene splicing assay; variant activates pseudo-exon branch point PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamAPatI2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 6i c.769-784C>T r.[(=,768_769ins769-778_769-617)] p.[(=,Leu257Aspfs*3)] Parent #2 - pathogenic (recessive) g.94549781G>A g.94084225G>A [769-784C>T;5603A>T] - ABCA4_001046 analysis mini-gene splicing assay; variant activates pseudo-exon branch point PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamCPatI2 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 6i c.769-784C>T r.[(=,768_769ins769-778_769-617)] p.[(=,Leu257Aspfs*3)] Parent #2 - pathogenic (recessive) g.94549781G>A g.94084225G>A [769-784C>T;5603A>T] - ABCA4_001046 analysis mini-gene splicing assay; variant activates pseudo-exon branch point PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamIPatII3 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 6i c.769-784C>T r.[(=,768_769ins769-778_769-617)] p.[(=,Leu257Aspfs*3)] Parent #2 - pathogenic (recessive) g.94549781G>A g.94084225G>A [769-784C>T;5603A>T] - ABCA4_001046 analysis mini-gene splicing assay; variant activates pseudo-exon branch point PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamKPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 6i c.769-784C>T r.[(=,768_769ins769-778_769-617)] p.[(=,Leu257Aspfs*3)] Parent #2 - pathogenic (recessive) g.94549781G>A g.94084225G>A [769-784C>T;5603A>T] - ABCA4_001046 analysis mini-gene splicing assay; variant activates pseudo-exon branch point PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamLPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 6i c.769-784C>T r.[(=,768_769ins769-778_769-617)] p.[(=,Leu257Aspfs*3)] Parent #2 - pathogenic (recessive) g.94549781G>A g.94084225G>A [769-784C>T;5603A>T] - ABCA4_001046 analysis mini-gene splicing assay; variant activates pseudo-exon branch point PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamQPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 6i c.769-784C>T r.[(=,768_769ins769-778_769-617)] p.[(=,Leu257Aspfs*3)] Parent #2 - pathogenic (recessive) g.94549781G>A g.94084225G>A [769-784C>T;5603A>T] - ABCA4_001046 analysis mini-gene splicing assay; variant activates pseudo-exon branch point PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamSPatII1 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #2 - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b - ABCA4_001046 variant activates pseudo-exon branch point PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease A-I:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #2 - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b - ABCA4_001046 variant activates pseudo-exon branch point PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease C-I:2 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #2 - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b - ABCA4_001046 variant activates pseudo-exon branch point PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease I-II:3 PubMed: Sangermano 2019 PubMed: Runhart 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #2 - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*;Asn1868Ile]b - ABCA4_001046 variant activates pseudo-exon branch point PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease K-II:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #2 - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*;Asn1868Ile]b - ABCA4_001046 variant activates pseudo-exon branch point PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease L-II:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #2 - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b - ABCA4_001046 variant activates pseudo-exon branch point PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease Q-II:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b - ABCA4_001046 variant activates pseudo-exon branch point PubMed: Sangermano 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease S-II:1 PubMed: Sangermano 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A g.94084225G>A [5603A>T; 769-784C>T] - ABCA4_001046 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P8T3 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.769-784C>T(;)5603A>T p.(=,Leu257Aspfs*3)(;)(Asn1868Ile) - ABCA4_001046 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66730 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.769-784C>T(;)5603A>T p.(=,Leu257Aspfs*3)(;)(Asn1868Ile) - ABCA4_001046 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66764 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.769-784C>T(;)3377T>C p.(=,Leu257Aspfs*3)(;)(Leu1126Pro) - ABCA4_001046 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66775 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A - c.769-784C>T - ABCA4_001046 - Sangermano 2019 - - Unknown - - - - - DNA MIPsm - - retinal disease 67208 PubMed: Khan 2020 - M - France - - - - - 1 LOVD
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A - c.769-784C>T - ABCA4_001046 - Sangermano 2019 - - Unknown - - - - - DNA MIPsm - - retinal disease 70234 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A - c.769-784C>T - ABCA4_001046 unknown variant 2nd chromosome Sangermano 2019 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70637 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A - c.769-784C>T(;)1938-619A>G - ABCA4_001046 - Sangermano 2019 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70817 PubMed: Khan 2020 - F - Argentina - - - - - 1 LOVD
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #1 - likely pathogenic (recessive) g.94549781G>A - c.[769-784C>T;5603A>T] - ABCA4_001046 - Sangermano 2019 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70825 PubMed: Khan 2020 - M - New Zealand - - - - - 1 LOVD
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A - c.769-784C>T - ABCA4_001046 - Sangermano 2019 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71449 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #1 - likely pathogenic (recessive) g.94549781G>A - c.[769-784C>T;5603A>T] - ABCA4_001046 - Sangermano 2019 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA11-13765 PubMed: Khan 2020 - M - Netherlands - - - - - 1 LOVD
+?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown - likely pathogenic (recessive) g.94549781G>A - c.769-784C>T - ABCA4_001046 unknown variant 2nd chromosome Sangermano 2019 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67122 PubMed: Khan 2019PubMed: Khan 2020 - M - France - - - - - 1 LOVD
+?/. - c.769-784C>T r.(=) p.(=) Unknown - likely pathogenic g.94549781G>A - - - ABCA4_001046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #1 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat2 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #1 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat17 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #1 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat36 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG likely benign g.94549781G>A g.94084225G>A - - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat84 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG likely benign g.94549781G>A g.94084225G>A - - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat303 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #2 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat279 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #2 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat281 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #2 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat283 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #2 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat284 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #2 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat285 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #2 ACMG likely pathogenic (recessive) g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat286 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #2 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat288 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
-?/. 6i c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Parent #2 ACMG likely benign g.94549781G>A g.94084225G>A c.[769-784C>T;5882G>A] - ABCA4_001046 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat307 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. - c.769-784C>T r.spl? p.? Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 ACMG BP7 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-829 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
?/. - c.769-784C>T r.spl? p.? Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 ACMG BP7 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-847 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.769-784C>T r.spl? p.? Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 ACMG BP7 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-265 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
?/. - c.769-784C>T r.spl? p.? Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 ACMG BP7 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1283 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #1 ACMG VUS g.94549781G>A g.94084225G>A c.769-784C>T(;)5603A>T - ABCA4_001046 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073321 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #1 ACMG VUS g.94549781G>A g.94084225G>A c.769-784C>T(;)5882G>A - ABCA4_001046 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073397 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Parent #2 ACMG pathogenic g.94549781G>A g.94084225G>A c.769-784C>T(;)5882G>A - ABCA4_001046 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072796 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown ACMG pathogenic g.94549781G>A g.94084225G>A c.67-2A>G(;)769-784C>T - ABCA4_001046 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073748 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257Aspfs*3] Unknown ACMG pathogenic g.94549781G>A g.94084225G>A c.67-2A>G(;)769-784C>T - ABCA4_001046 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074719 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067122 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072050 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072210 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 073069 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 073396 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 074639 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.769-784C>T r.spl p.[=,Leu257Aspfs*3] Unknown ACMG VUS g.94549781G>A g.94084225G>A - - ABCA4_001046 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 074642 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
-?/. 6i c.769-784C>T r.[=,768_769ins769-617_769-778] p.[=,Leu257AspfsTer3] Unknown ACMG likely benign g.94549781G>A g.94084225G>A - - ABCA4_001046 reduced penetrance reported (21-40%) Runhart 2020 (PMID:32815999); variant likely underreported due to reduced penetrance and intronic location, Runhart 2019 (PMID:31618761); ACMG BP4_m; severity category benign Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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