"ITMI"[submitter] AND "PAX5"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133372	NM_016734.3(PAX5):c.*15C>T	PAX5 (A320V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	Gnot provided
Select item 134998	NM_016734.3(PAX5):c.1110C>T (p.Tyr370=)	PAX5 (T293I +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 135004	NM_016734.3(PAX5):c.1029G>A (p.Gly343=)	PAX5 (G266E)	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign/Likely benign
Select item 135003	NM_016734.3(PAX5):c.964G>A (p.Ala322Thr)	PAX5 (A322T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 135002	NM_016734.3(PAX5):c.857C>T (p.Pro286Leu)	PAX5 (P286L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135001	NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)	PAX5 (S213L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 135000	NM_016734.3(PAX5):c.451G>A (p.Val151Ile)	LOC105376032, PAX5 (V151I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 134999	NM_016734.3(PAX5):c.244G>A (p.Val82Ile)	PAX5 (V82I)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign
Select item 134997	NM_016734.3(PAX5):c.6T>A (p.Asp2Glu)	PAX5 (D2E)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign