PSMB9[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 3220393	NM_002800.5(PSMB9):c.11C>T (p.Ala4Val)	PSMB9 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313341	NM_002800.5(PSMB9):c.14G>C (p.Gly5Ala)	PSMB9 (G5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044101	NM_002800.5(PSMB9):c.26G>A (p.Gly9Glu)	PSMB9 (G9E)	Single nucleotide variant (missense variant)	PSMB9-related condition	GBenign
Select item 2390920	NM_002800.5(PSMB9):c.88G>A (p.Gly30Arg)	PSMB9 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756788	NM_002800.5(PSMB9):c.93C>T (p.Gly31=)	PSMB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056957	NM_002800.5(PSMB9):c.94G>A (p.Val32Ile)	PSMB9 (V32I)	Single nucleotide variant (missense variant)	PSMB9-related condition	GBenign
Select item 1678209	NM_002800.5(PSMB9):c.131dup (p.Ala45fs)	PSMB9 (A45fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1327454	NM_002800.5(PSMB9):c.179G>A (p.Arg60His)	PSMB9 (R60H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3037411	NM_002800.5(PSMB9):c.198T>C (p.Ser66=)	PSMB9	Single nucleotide variant (synonymous variant)	PSMB9-related condition	GLikely benign
Select item 3220394	NM_002800.5(PSMB9):c.215C>G (p.Ala72Gly)	PSMB9 (A72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220395	NM_002800.5(PSMB9):c.238G>T (p.Ala80Ser)	PSMB9 (A80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220396	NM_002800.5(PSMB9):c.263T>C (p.Ile88Thr)	PSMB9 (I88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575959	NM_002800.5(PSMB9):c.323A>C (p.Tyr108Ser)	PSMB9 (Y108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624240	NM_002800.5(PSMB9):c.331C>A (p.Arg111=)	PSMB9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2454912	NM_002800.5(PSMB9):c.332G>A (p.Arg111Gln)	PSMB9 (R111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499007	NM_002800.5(PSMB9):c.350A>G (p.His117Arg)	PSMB9 (H117R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285061	NM_002800.5(PSMB9):c.377G>A (p.Arg126His)	PSMB9 (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528126	NM_002800.5(PSMB9):c.386G>A (p.Gly129Asp)	PSMB9 (G129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299361	NM_002800.5(PSMB9):c.467G>A (p.Gly156Asp)	PSMB9 (G156D)	Single nucleotide variant (missense variant)	proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID)	GPathogenic
Select item 3220397	NM_002800.5(PSMB9):c.469T>C (p.Tyr157His)	PSMB9 (Y157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637885	NM_002800.5(PSMB9):c.483A>G (p.Ala161=)	PSMB9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3043979	NM_002800.5(PSMB9):c.486T>C (p.Tyr162=)	PSMB9	Single nucleotide variant (synonymous variant)	PSMB9-related condition	GBenign
Select item 548995	NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)	PSMB9 (G165D)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 3	GLikely pathogenic
Select item 1711625	NM_002800.5(PSMB9):c.517C>T (p.Arg173Cys)	PSMB9 (R173C)	Single nucleotide variant (missense variant)	PSMB9-related condition +1 more	GBenign/Likely benign
Select item 3046623	NM_002800.5(PSMB9):c.567C>T (p.Ser189=)	PSMB9	Single nucleotide variant (synonymous variant)	PSMB9-related condition	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 2637886	NC_000006.12:g.32859588_32859589insAT	PSMB9	Insertion	not specified	GBenign
Select item 2637877	NC_000006.12:g.32857571T>C	PSMB9	Single nucleotide variant	not specified	GBenign
Select item 2637873	NC_000006.12:g.32858673T>C	PSMB9	Single nucleotide variant	not specified	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35