"Ambry Genetics"[submitter] AND "PSMB4"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2273531	NM_002796.3(PSMB4):c.10T>C (p.Phe4Leu)	PSMB4 (F4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2170432	NM_002796.3(PSMB4):c.26C>T (p.Ser9Phe)	PSMB4 (S9F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1570825	NM_002796.3(PSMB4):c.337G>A (p.Gly113Ser)	PSMB4 (G113S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2287630	NM_002796.3(PSMB4):c.349A>G (p.Ile117Val)	PSMB4 (I117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1032848	NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg)	PSMB4 (G158R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1451079	NM_002796.3(PSMB4):c.631C>T (p.Arg211Cys)	PSMB4 (R211C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1897066	NM_002796.3(PSMB4):c.634G>T (p.Asp212Tyr)	PSMB4 (D212Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1471258	NM_002796.3(PSMB4):c.715G>A (p.Glu239Lys)	PSMB4 (E239K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2419400	NM_002796.3(PSMB4):c.721G>C (p.Gly241Arg)	PSMB4 (G241R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1496915	NM_002796.3(PSMB4):c.739C>T (p.Pro247Ser)	PSMB4 (P247S)	Single nucleotide variant (missense variant)	PSMB4-related condition +2 more	GUncertain significance