Full data view for gene CLN3

An NCL gene variant database
Information The variants shown are described using the NM_001042432.1 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del UNDEFINED; IN VICINITY OF INTRONS 6-8, EXONS7-8, CHR16:28405752_28404787 - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - VUS g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29) Unknown - pathogenic g.28497286_28498251del g.28485965_28486930del 461‑280_677+382del966 - CLN3_000002 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat88 PubMed: Pronicka 2016 - M - Poland - - - - - 1 Johan den Dunnen
+?/. - c.461-280_677+382del r.? p.? Parent #1 - likely pathogenic g.28497286_28498251del - del ex9-10, chr16:28497286-28498251del - CLN3_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 10 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.? p.? Both (homozygous) - likely pathogenic g.28497286_28498251del - del ex9-10, chr16:28497286-28498251del - CLN3_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 623 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.? p.? Both (homozygous) - likely pathogenic g.28497286_28498251del - del ex9-10, chr16:28497286-28498251del - CLN3_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 624 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.? p.? Both (homozygous) - likely pathogenic g.28497286_28498251del - del ex9-10, chr16:28497286-28498251del - CLN3_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 625 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.461-280_677+382del r.? p.? Parent #1 - likely pathogenic g.28497286_28498251del - del ex9-10, chr16:28497286-28498251del - CLN3_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 626 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.(?) p.? Parent #1 - likely pathogenic g.28497286_28498251del g.28485965_28486930del CLN3 1-kb del (c.461-280_677+382del966) - CLN3_000002 heterozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease GC20465 PubMed: Ku 2017 - M - - - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.(?) p.? Parent #1 - likely pathogenic g.28497286_28498251del g.28485965_28486930del CLN3 1-kb del (c.461-280_677+382del966) - CLN3_000002 heterozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease GC20390 PubMed: Ku 2017 - F - - - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.(?) p.? Parent #1 - likely pathogenic g.28497286_28498251del g.28485965_28486930del CLN3 1-kb del (c.461-280_677+382del966) - CLN3_000002 heterozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease CEI26198 PubMed: Ku 2017 - F - - - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.(?) p.? Parent #1 - likely pathogenic g.28497286_28498251del g.28485965_28486930del CLN3 1-kb del (c.461-280_677+382del966) - CLN3_000002 heterozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease GC20101 PubMed: Ku 2017 - F - - - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.(?) p.? Parent #1 - likely pathogenic g.28497286_28498251del g.28485965_28486930del CLN3 1-kb del (c.461-280_677+382del966) - CLN3_000002 heterozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease GC3513 PubMed: Ku 2017 - F - - - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.(?) p.? Parent #1 - likely pathogenic g.28497286_28498251del g.28485965_28486930del CLN3 1-kb del (c.461-280_677+382del966) - CLN3_000002 heterozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease - PubMed: Ku 2017 - M - - - - - - - 1 LOVD
+?/. - c.461-280_677+382del r.(?) p.? Parent #2 - likely pathogenic g.28497286_28498251del g.28485965_28486930del CLN3 1.02-kb del - CLN3_000002 heterozygous PubMed: Chen 2018 - - Germline yes - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.461-280_677+382del r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.28497286_28498251del g.28485965_28486930del - - CLN3_000002 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-609 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.461-280_677+382del r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.28497286_28498251del g.28485965_28486930del - - CLN3_000002 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-841 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.461-280_677+382del r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.28497286_28498251del g.28485965_28486930del - - CLN3_000002 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-468 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.461-280_677+382del r.spl p.[(Gly154AlafsTer29,Val155_Gly264del)] Both (homozygous) - pathogenic (recessive) g.28497286_28498251del g.28485965_28486930del 461-280_677+382del966 - CLN3_000002 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat3 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
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