Full data view for gene RNU2-2

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

24 entries on 1 page. Showing entries 1 - 24.
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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.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG6 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.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG7 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.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 variant not in mother PubMed: Greene 2025, Journal: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD PatG8 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.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatG9 PubMed: Greene 2025, Journal: Greene 2024 2-generation family, 2 affected brothers, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025, Journal: Greene 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatS3 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.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI2 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI3 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI4 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI5 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatI6 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C NR_199791.1:n.35A>G - RNU2-2_000001 - PubMed: Greene 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatW1 PubMed: Greene 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; somatic variant (blood 0.1 (678/5218 reads), urine 0.20 (1181/5659 reads), buccal 0.25 (574/2267 reads) PubMed: Leitao 2025, Journal: Leitao 2025 - - Somatic - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-19 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Maternal (confirmed) ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 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 PatSupTab2-20 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, affected twins, unaffected non-carrier parents - - France - - - - - 2 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-21 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-22 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-23 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-24 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-25 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-26 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-27 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-28 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-29 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown ACMG pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate PubMed: Leitao 2025, Journal: Leitao 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-30 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - n.-14A>G r.(?) - Unknown - pathogenic (dominant) g.62609247T>C g.62841775T>C n.35A>G - RNU2-2_000001 - PubMed: Fan 2025, Journal: Fan 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Fan 2025, Journal: Fan 2025 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
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