Full data view for gene RNU2-2

Information The variants shown are described using the NR_002761.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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     
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG1 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG2 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 variant not in mother PubMed: Greene 2025, Journal: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD PatG3 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier mother F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG4 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG5 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatM1 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatN1 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatS1 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025, Journal: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD PatS2 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 1 affected, unaffected non carrier mother M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI1 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatR1 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatY1 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Iceland - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatZ1 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat2 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat3 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents F - Australia jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat4 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents F - Korea Asia - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat5 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Korea Asia - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat6 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents F - Korea Asia - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat7 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Korea Asia - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat10 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat11 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat12 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected non-carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T ENST00000410396.1:n.4G>A - RNU2-2_000003 - PubMed: Jackson 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD 2-Pat13 PubMed: Jackson 2025 2-generation family, 1 affected, unaffected parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-1 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-2 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Parent #2 ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-3 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-4 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Maternal (confirmed) ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-5 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Maternal (confirmed) ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-6 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-7 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-8 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-9 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-10 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-11 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-12 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; variant not in parent 2 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-13 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-14 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-15 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-16 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-17 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown ACMG pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-18 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 - PubMed: Fan 2025, Journal: Fan 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Fan 2025, Journal: Fan 2025 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(?) - Unknown - pathogenic (dominant) g.62609278C>T g.62841806C>T n.4G>A - RNU2-2_000003 - PubMed: Fan 2025, Journal: Fan 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Fan 2025, Journal: Fan 2025 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - n.-45G>A r.(-45G>A) - Maternal (confirmed) - pathogenic (dominant) g.62609278C>T g.62841806C>T NR_199791.1:n.4G>A - RNU2-2_000003 - PubMed: Boukas 2026 - - De novo - - - - - DNA SEQ-PB - - DEE Duo1 PubMed: Boukas 2026 2-generation family, 1 affected, unaffected non-carrier parents - - United States - - - - - 1 Johan den Dunnen
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