"Ambry Genetics"[submitter] AND "PSMB5"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2515756	NM_002797.5(PSMB5):c.716G>A (p.Arg239Gln)	PSMB5 (R239Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389155	NM_002797.5(PSMB5):c.715C>T (p.Arg239Trp)	PSMB5 (R239W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315221	NM_002797.5(PSMB5):c.602G>T (p.Gly201Val)	PSMB5 (G201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310968	NM_002797.5(PSMB5):c.596A>G (p.Asp199Gly)	PSMB5 (D199G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284550	NM_002797.5(PSMB5):c.589G>A (p.Val197Ile)	PSMB5 (V94I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220385	NM_002797.5(PSMB5):c.516C>T (p.Tyr172=)	PSMB5 (R201C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3220384	NM_002797.5(PSMB5):c.493A>G (p.Lys165Glu)	PSMB5 (K62E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310969	NM_002797.5(PSMB5):c.454A>C (p.Met152Leu)	PSMB5 (M152L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310966	NM_002797.5(PSMB5):c.220G>T (p.Ala74Ser)	PSMB5 (A74S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2592119	NM_002797.5(PSMB5):c.206A>G (p.His69Arg)	PSMB5 (H69R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304237	NM_002797.5(PSMB5):c.202C>G (p.Arg68Gly)	PSMB5 (R68G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3220386	NM_002797.5(PSMB5):c.79C>G (p.Leu27Val)	LOC112214176, PSMB5 (L27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220383	NM_002797.5(PSMB5):c.47G>T (p.Arg16Leu)	LOC112214176, PSMB5 (R16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance