PSMB10[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435274	NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)	PSMB10 (G246R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2532008	NM_002801.4(PSMB10):c.718C>T (p.Arg240Cys)	PSMB10 (R240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220360	NM_002801.4(PSMB10):c.711G>A (p.Arg237=)	PSMB10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3241967	NM_002801.4(PSMB10):c.710+1G>C	PSMB10	Single nucleotide variant (splice donor variant)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 3220359	NM_002801.4(PSMB10):c.703G>A (p.Val235Met)	PSMB10 (V235M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646645	NM_002801.4(PSMB10):c.660T>C (p.Thr220=)	PSMB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537245	NM_002801.4(PSMB10):c.643T>A (p.Cys215Ser)	PSMB10 (C215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435273	NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)	PSMB10 (G210D)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 5	GUncertain significance
Select item 3241969	NM_002801.4(PSMB10):c.601G>C (p.Gly201Arg)	PSMB10 (G201R)	Single nucleotide variant (missense variant)	IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION	GPathogenic
Select item 3241968	NM_002801.4(PSMB10):c.601G>A (p.Gly201Arg)	PSMB10 (G201R)	Single nucleotide variant (missense variant)	IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION	GPathogenic
Select item 2277623	NM_002801.4(PSMB10):c.424G>A (p.Val142Ile)	PSMB10 (V142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340691	NM_002801.4(PSMB10):c.401G>A (p.Gly134Asp)	PSMB10 (G134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220357	NM_002801.4(PSMB10):c.367C>T (p.Arg123Cys)	PSMB10 (R123C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518708	NM_002801.4(PSMB10):c.361A>G (p.Ile121Val)	PSMB10 (I121V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220356	NM_002801.4(PSMB10):c.251G>A (p.Gly84Glu)	PSMB10 (G84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3241966	NM_002801.4(PSMB10):c.247dup (p.Cys83fs)	PSMB10 (C83fs)	Duplication (frameshift variant)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 2630424	NM_002801.4(PSMB10):c.212AGA[1] (p.Lys72del)	PSMB10 (K72del)	Microsatellite (inframe_deletion)	PSMB10-related disorder	GUncertain significance
Select item 2646646	NM_002801.4(PSMB10):c.53A>C (p.Gln18Pro)	PSMB10 (Q18P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3220358	NM_002801.4(PSMB10):c.45G>T (p.Glu15Asp)	PSMB10 (E15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3241964	NM_002801.4(PSMB10):c.40_42del (p.Phe14del)	PSMB10 (F14del)	Deletion (inframe_deletion)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 997016	NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser)	PSMB10 (F14S)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 5	GPathogenic
Select item 2646647	NM_002801.4(PSMB10):c.9G>A (p.Lys3=)	PSMB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 22