"GeneDx"[submitter] AND "PRUNE1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384334	NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)	PRUNE1 (D30N)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 932732	NM_021222.3(PRUNE1):c.132+2T>C	PRUNE1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 430526	NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter)	PRUNE1 (R66*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1189774	NM_021222.3(PRUNE1):c.380A>G (p.His127Arg)	PRUNE1 (H127R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 384335	NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)	PRUNE1 (R128Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 265536	NM_021222.3(PRUNE1):c.521-2A>G	PRUNE1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1699530	NM_021222.3(PRUNE1):c.640A>G (p.Ile214Val)	PRUNE1 (I214V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 450387	NM_021222.3(PRUNE1):c.809T>C (p.Leu270Pro)	PRUNE1 (L270P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 427232	NM_021222.3(PRUNE1):c.889C>T (p.Arg297Trp)	PRUNE1 (R297W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic