Full data view for gene RNU2-2

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

7 entries on 1 page. Showing entries 1 - 7.
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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.56T>C r.(?) - Both (homozygous) - pathogenic (recessive) g.62609178A>G g.62841706A>G n.104T>C - RNU2-2_000061 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamK PubMed: Greene 2025, Journal: Greene 2025 2-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents F;M yes United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. - n.56T>C r.(?) - Unknown - pathogenic (recessive) g.62609178A>G g.62841706A>G n.104T>C - RNU2-2_000061 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD FamV PubMed: Greene 2025, Journal: Greene 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - n.56T>C r.(?) - Maternal (confirmed) - pathogenic (recessive) g.62609178A>G g.62841706A>G n.104T>C - RNU2-2_000061 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamXPat1 PubMed: Greene 2025, Journal: Greene 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+/. - n.56T>C r.(?) - Maternal (confirmed) - pathogenic (recessive) g.62609178A>G g.62841706A>G n.104T>C - RNU2-2_000061 - PubMed: Greene 2025, Journal: Greene 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamXPat2 PubMed: Greene 2025, Journal: Greene 2025 sister F - - - - - - - 1 Johan den Dunnen
+?/. - n.56T>C r.(?) - Both (homozygous) ACMG likely pathogenic (recessive) g.62609178A>G g.62841706A>G n.104T>C - RNU2-2_000061 ACMG PS4_Moderate, PM1, PM2_supp, PM3 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-92 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 2 affected sibs, unaffected carrier parents - - - - - - - - 2 Johan den Dunnen
+?/. - n.56T>C r.(?) - Parent #2 ACMG likely pathogenic (recessive) g.62609178A>G g.62841706A>G n.104T>C - RNU2-2_000061 ACMG PS4_Moderate, PM1, PM2_supp, PM3 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-95 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
+?/. - n.56T>C r.(?) - Parent #2 ACMG likely pathogenic (recessive) g.62609178A>G g.62841706A>G n.104T>C - RNU2-2_000061 ACMG PS4_Moderate, PM1, PM2_supp, PM3 PubMed: Leitao 2025, Journal: Leitao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD PatSupTab2-69 PubMed: Leitao 2025, Journal: Leitao 2025 2-generation family, 1 affected, unaffected carrier parents - - France - - - - - 1 Johan den Dunnen
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