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Viewing single variant in RNU2-2

Full RNU2-2 gene page

Pathogenic / Likely Pathogenic

RNU2-2:n.4G>A

Tutor Research

NomenclatureNR_199791.1|ClinVar #3898494

Typenon coding transcript exon variant

InheritanceAutosomal dominant

ReNU syndrome & the snRNA disorders — features, recurrent variants, where they sit, testing and counsellingOverview →

Tutor Research

Some data sources returned errors (1) — other data may still be shown below

vep: VEP annotation not found — variant may be outside CDS, intronic, or use rsID instead

ClinVarPathogenic/Likely pathogenic

VCV003898494

Review: criteria provided, multiple submitters, no conflictsSubmitters: 8view ↗Last evaluated: 2026/04/14 00:00

Developmental and epileptic encephalopathy[MedGen][MONDO]

Neurodevelopmental disorder[MedGen][MONDO]

Developmental and epileptic encephalopathy 119[OMIM][MedGen][MONDO]

RNU2-2P-related disorders

not provided[MedGen]

Protein-structure analyses omitted

RNU2-2 is a non-coding RNA (snRNA) gene with no protein product, so the lollipop plot, 3D structure, and structural constraint views don't apply to this variant.

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	5	0	5
Likely Pathogenic	0	0	24	0	24
VUS	1	0	72	0	73
Likely Benign	0	0	5	0	5
Benign	0	0	2	0	2
Conflicting	—				3
Total	1	0	108	0	112

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

5 pathogenic / likely-pathogenic (of 6) ClinVar copy-number / structural variants overlap RNU2-2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →