PSMB4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 144803	GRCh38/hg38 1q21.3(chr1:151360648-151427484)x3	POGZ, PSMB4 +1 more	Copy number gain	See cases	GBenign
Select item 548956	NM_002796.3(PSMB4):c.-9G>A	PSMB4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1523420	NM_002796.3(PSMB4):c.1A>C (p.Met1Leu)	PSMB4 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1366050	NM_002796.3(PSMB4):c.1A>G (p.Met1Val)	PSMB4 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971683	NM_002796.3(PSMB4):c.2T>C (p.Met1Thr)	PSMB4 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2273531	NM_002796.3(PSMB4):c.10T>C (p.Phe4Leu)	PSMB4 (F4L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1614478	NM_002796.3(PSMB4):c.13T>C (p.Leu5=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881357	NM_002796.3(PSMB4):c.14T>G (p.Leu5Trp)	PSMB4 (L5W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1165367	NM_002796.3(PSMB4):c.18G>A (p.Gly6=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2121876	NM_002796.3(PSMB4):c.22C>T (p.Arg8Trp)	PSMB4 (R8W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368324	NM_002796.3(PSMB4):c.23G>C (p.Arg8Pro)	PSMB4 (R8P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170432	NM_002796.3(PSMB4):c.26C>T (p.Ser9Phe)	PSMB4 (S9F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1402504	NM_002796.3(PSMB4):c.28G>A (p.Gly10Arg)	PSMB4 (G10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700575	NM_002796.3(PSMB4):c.29G>T (p.Gly10Val)	PSMB4 (G10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012535	NM_002796.3(PSMB4):c.38C>T (p.Ala13Val)	PSMB4 (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548957	NM_002796.3(PSMB4):c.44dup (p.Pro16fs)	PSMB4 (P16fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2799143	NM_002796.3(PSMB4):c.39G>A (p.Ala13=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671823	NM_002796.3(PSMB4):c.39G>T (p.Ala13=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949738	NM_002796.3(PSMB4):c.40G>A (p.Gly14Arg)	PSMB4 (G14R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353385	NM_002796.3(PSMB4):c.43G>A (p.Gly15Ser)	PSMB4 (G15S)	Single nucleotide variant (missense variant)	PSMB4-related disorder	GUncertain significance
Select item 1895932	NM_002796.3(PSMB4):c.43G>C (p.Gly15Arg)	PSMB4 (G15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442380	NM_002796.3(PSMB4):c.46C>T (p.Pro16Ser)	PSMB4 (P16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493754	NM_002796.3(PSMB4):c.49G>T (p.Ala17Ser)	PSMB4 (A17S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354008	NM_002796.3(PSMB4):c.50C>T (p.Ala17Val)	PSMB4 (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178995	NM_002796.3(PSMB4):c.67C>A (p.Arg23Ser)	PSMB4 (R23S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992911	NM_002796.3(PSMB4):c.67C>T (p.Arg23Cys)	PSMB4 (R23C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380676	NM_002796.3(PSMB4):c.68G>A (p.Arg23His)	PSMB4 (R23H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165733	NM_002796.3(PSMB4):c.75G>A (p.Pro25=)	PSMB4	Single nucleotide variant (synonymous variant)	Proteasome-associated autoinflammatory syndrome 3 +2 more	GBenign
Select item 1361914	NM_002796.3(PSMB4):c.80C>T (p.Thr27Ile)	PSMB4 (T27I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414804	NM_002796.3(PSMB4):c.93C>G (p.Phe31Leu)	PSMB4 (F31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005736	NM_002796.3(PSMB4):c.95T>A (p.Met32Lys)	PSMB4 (M32K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387695	NM_002796.3(PSMB4):c.103G>A (p.Ala35Thr)	PSMB4 (A35T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618129	NM_002796.3(PSMB4):c.105G>C (p.Ala35=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220379	NM_002796.3(PSMB4):c.107C>T (p.Ser36Phe)	PSMB4 (S36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2120051	NM_002796.3(PSMB4):c.127A>G (p.Ile43Val)	PSMB4 (I43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148917	NM_002796.3(PSMB4):c.138C>T (p.Thr46=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981685	NM_002796.3(PSMB4):c.140+13C>A	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790376	NM_002796.3(PSMB4):c.140+19C>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636918	NM_002796.3(PSMB4):c.141-17C>A	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632805	NM_002796.3(PSMB4):c.141-16C>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640462	NM_002796.3(PSMB4):c.141-15G>A	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975145	NM_002796.3(PSMB4):c.141-14T>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779879	NM_002796.3(PSMB4):c.141-9_141-6del	PSMB4	Deletion (intron variant)	not provided	GLikely benign
Select item 2766946	NM_002796.3(PSMB4):c.141-9A>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662603	NM_002796.3(PSMB4):c.141-9A>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575957	NM_002796.3(PSMB4):c.151G>C (p.Val51Leu)	PSMB4 (V51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513288	NM_002796.3(PSMB4):c.165_169del (p.Val56fs)	PSMB4 (V56fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2808980	NM_002796.3(PSMB4):c.169C>T (p.Leu57Phe)	PSMB4 (L57F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1117974	NM_002796.3(PSMB4):c.171C>T (p.Leu57=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744760	NM_002796.3(PSMB4):c.174C>G (p.Gly58=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009636	NM_002796.3(PSMB4):c.183C>T (p.Phe61=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119665	NM_002796.3(PSMB4):c.199A>T (p.Ile67Phe)	PSMB4 (I67F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869636	NM_002796.3(PSMB4):c.200T>C (p.Ile67Thr)	PSMB4 (I67T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368329	NM_002796.3(PSMB4):c.238C>T (p.Arg80Cys)	PSMB4 (R80C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414636	NM_002796.3(PSMB4):c.248A>G (p.Asn83Ser)	PSMB4 (N83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484568	NM_002796.3(PSMB4):c.250A>C (p.Ile84Leu)	PSMB4 (I84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510064	NM_002796.3(PSMB4):c.266G>C (p.Arg89Pro)	PSMB4 (R89P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838971	NM_002796.3(PSMB4):c.271_272delinsGT (p.Asn91Val)	PSMB4 (N91V)	Indel (missense variant)	not provided	GUncertain significance
Select item 2894563	NM_002796.3(PSMB4):c.276C>A (p.Asn92Lys)	PSMB4 (N92K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3310965	NM_002796.3(PSMB4):c.278G>C (p.Ser93Thr)	PSMB4 (S93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1420287	NM_002796.3(PSMB4):c.278G>T (p.Ser93Ile)	PSMB4 (S93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939777	NM_002796.3(PSMB4):c.281C>T (p.Thr94Ile)	PSMB4 (T94I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006794	NM_002796.3(PSMB4):c.284T>C (p.Met95Thr)	PSMB4 (M95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554550	NM_002796.3(PSMB4):c.286C>T (p.Leu96=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514771	NM_002796.3(PSMB4):c.300C>T (p.Gly100=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698493	NM_002796.3(PSMB4):c.309T>C (p.Ala103=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449046	NM_002796.3(PSMB4):c.320A>G (p.Tyr107Cys)	PSMB4 (Y107C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639172	NM_002796.3(PSMB4):c.321T>C (p.Tyr107=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698557	NM_002796.3(PSMB4):c.329A>C (p.Gln110Pro)	PSMB4 (Q110P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169035	NM_002796.3(PSMB4):c.336C>T (p.Leu112=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1570825	NM_002796.3(PSMB4):c.337G>A (p.Gly113Ser)	PSMB4 (G113S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2779641	NM_002796.3(PSMB4):c.347+4A>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2022691	NM_002796.3(PSMB4):c.347+15G>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958306	NM_002796.3(PSMB4):c.347+15G>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168606	NM_002796.3(PSMB4):c.347+16A>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2628248	NM_002796.3(PSMB4):c.347+107A>G	PSMB4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2807226	NM_002796.3(PSMB4):c.348-14C>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978032	NM_002796.3(PSMB4):c.348-11T>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1358434	NM_002796.3(PSMB4):c.348G>A (p.Val116=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2287630	NM_002796.3(PSMB4):c.349A>G (p.Ile117Val)	PSMB4 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1478705	NM_002796.3(PSMB4):c.378C>G (p.His126Gln)	PSMB4 (H126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450417	NM_002796.3(PSMB4):c.392G>A (p.Arg131Lys)	PSMB4 (R131K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008739	NM_002796.3(PSMB4):c.394G>A (p.Ala132Thr)	PSMB4 (A132T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830656	NM_002796.3(PSMB4):c.403T>A (p.Ser135Thr)	PSMB4 (S135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354179	NM_002796.3(PSMB4):c.418G>A (p.Ala140Thr)	PSMB4 (A140T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966446	NM_002796.3(PSMB4):c.430C>T (p.Arg144Trp)	PSMB4 (R144W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715425	NM_002796.3(PSMB4):c.434G>C (p.Arg145Pro)	PSMB4 (R145P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189083	NM_002796.3(PSMB4):c.438G>C (p.Ser146=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461693	NM_002796.3(PSMB4):c.454T>A (p.Trp152Arg)	PSMB4 (W152R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641737	NM_002796.3(PSMB4):c.459C>T (p.Asn153=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1426906	NM_002796.3(PSMB4):c.463A>G (p.Met155Val)	PSMB4 (M155V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035677	NM_002796.3(PSMB4):c.466G>C (p.Val156Leu)	PSMB4 (V156L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045620	NM_002796.3(PSMB4):c.471C>T (p.Ile157=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032848	NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg)	PSMB4 (G158R)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 3 +2 more	GUncertain significance
Select item 1461802	NM_002796.3(PSMB4):c.478T>C (p.Tyr160His)	PSMB4 (Y160H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982823	NM_002796.3(PSMB4):c.480T>C (p.Tyr160=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370727	NM_002796.3(PSMB4):c.482C>T (p.Ala161Val)	PSMB4 (A161V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752436	NM_002796.3(PSMB4):c.484G>A (p.Asp162Asn)	PSMB4 (D162N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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