ClinVar for Gene (Select 5692) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3310965	NM_002796.3(PSMB4):c.278G>C (p.Ser93Thr)	PSMB4 (S93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247711	NC_000001.10:g.(?_151314662)_(151666077_?)del	CGN, POGZ +5 more	Deletion	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3220381	NM_002796.3(PSMB4):c.634G>A (p.Asp212Asn)	PSMB4 (D212N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220380	NM_002796.3(PSMB4):c.553G>A (p.Gly185Ser)	PSMB4 (G185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3021980	NM_002796.3(PSMB4):c.693+15G>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013292	NM_002796.3(PSMB4):c.639A>C (p.Leu213Phe)	PSMB4 (L213F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3009636	NM_002796.3(PSMB4):c.183C>T (p.Phe61=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3006794	NM_002796.3(PSMB4):c.284T>C (p.Met95Thr)	PSMB4 (M95T)	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 3004762	NM_002796.3(PSMB4):c.663G>A (p.Leu221=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004310	NM_002796.3(PSMB4):c.576+11A>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995448	NM_002796.3(PSMB4):c.772C>T (p.His258Tyr)	PSMB4 (H258Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981685	NM_002796.3(PSMB4):c.140+13C>A	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 2975765	NM_002796.3(PSMB4):c.694-6T>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973190	NM_002796.3(PSMB4):c.651C>G (p.Cys217Trp)	PSMB4 (C217W)	Single nucleotide variant (missense variant)	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 2970629	NM_002796.3(PSMB4):c.694-11C>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2964472	NM_002796.3(PSMB4):c.576+20G>A	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961147	NM_002796.3(PSMB4):c.577-14C>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959276	NM_002796.3(PSMB4):c.518T>A (p.Leu173His)	PSMB4 (L173H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896201	NM_002796.3(PSMB4):c.702C>T (p.Ile234=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2880094	NM_002796.3(PSMB4):c.769G>A (p.Ala257Thr)	PSMB4 (A257T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871651	NM_002796.3(PSMB4):c.694-10T>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2860419	NM_002796.3(PSMB4):c.611T>G (p.Val204Gly)	PSMB4 (V204G)	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 2837227	NM_002796.3(PSMB4):c.629C>A (p.Ala210Asp)	PSMB4 (A210D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835765	NM_002796.3(PSMB4):c.693+16G>A	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2826028	NM_002796.3(PSMB4):c.706A>G (p.Thr236Ala)	PSMB4 (T236A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809365	NM_002796.3(PSMB4):c.703G>A (p.Ala235Thr)	PSMB4 (A235T)	Single nucleotide variant (missense 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 2807226	NM_002796.3(PSMB4):c.348-14C>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806557	NM_002796.3(PSMB4):c.694-12_694-9del	PSMB4	Deletion (intron variant)	not provided	GLikely benign
Select item 2806289	NM_002796.3(PSMB4):c.488G>A (p.Gly163Glu)	PSMB4 (G163E)	Single nucleotide variant (missense 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 2794448	NM_002796.3(PSMB4):c.755C>G (p.Thr252Ser)	PSMB4 (T252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790376	NM_002796.3(PSMB4):c.140+19C>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783998	NM_002796.3(PSMB4):c.590_592del (p.Glu197del)	PSMB4 (E197del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2783514	NM_002796.3(PSMB4):c.782+8A>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780617	NM_002796.3(PSMB4):c.782+20T>G	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 2779641	NM_002796.3(PSMB4):c.347+4A>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2778656	NM_002796.3(PSMB4):c.622A>C (p.Thr208Pro)	PSMB4 (T208P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766946	NM_002796.3(PSMB4):c.141-9A>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762987	NM_002796.3(PSMB4):c.610_612dup (p.Val204_Leu205insVal)	PSMB4	Duplication (inframe_insertion)	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
Select item 2751677	NM_002796.3(PSMB4):c.753G>T (p.Glu251Asp)	PSMB4 (E251D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744760	NM_002796.3(PSMB4):c.174C>G (p.Gly58=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2711330	NM_002796.3(PSMB4):c.520G>C (p.Gly174Arg)	PSMB4 (G174R)	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 2698557	NM_002796.3(PSMB4):c.329A>C (p.Gln110Pro)	PSMB4 (Q110P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698493	NM_002796.3(PSMB4):c.309T>C (p.Ala103=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639172	NM_002796.3(PSMB4):c.321T>C (p.Tyr107=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628248	NM_002796.3(PSMB4):c.347+107A>G	PSMB4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
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 2419400	NM_002796.3(PSMB4):c.721G>C (p.Gly241Arg)	PSMB4 (G241R)	Single nucleotide variant (missense variant)	not specified +1 more	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 2287630	NM_002796.3(PSMB4):c.349A>G (p.Ile117Val)	PSMB4 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2190020	NM_002796.3(PSMB4):c.783-7T>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2189083	NM_002796.3(PSMB4):c.438G>C (p.Ser146=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2178283	NM_002796.3(PSMB4):c.576+9dup	PSMB4	Duplication (intron variant)	not provided	GLikely benign
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 2148917	NM_002796.3(PSMB4):c.138C>T (p.Thr46=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2120051	NM_002796.3(PSMB4):c.127A>G (p.Ile43Val)	PSMB4 (I43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2110180	NM_002796.3(PSMB4):c.694-7C>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104856	NM_002796.3(PSMB4):c.571dup (p.Ala191fs)	PSMB4 (A191fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2101952	NM_002796.3(PSMB4):c.624C>T (p.Thr208=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100156	NM_002796.3(PSMB4):c.693+8A>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062904	NM_002796.3(PSMB4):c.782+10A>G	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2053914	NM_002796.3(PSMB4):c.771C>A (p.Ala257=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053911	NM_002796.3(PSMB4):c.762_770del (p.Trp254_Ala257delinsCys)	PSMB4	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2051817	NM_002796.3(PSMB4):c.591A>C (p.Glu197Asp)	PSMB4 (E197D)	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 2042892	NM_002796.3(PSMB4):c.777G>T (p.Met259Ile)	PSMB4 (M259I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032293	NM_002796.3(PSMB4):c.662_665dup (p.Tyr223fs)	PSMB4 (Y223fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2024711	NM_002796.3(PSMB4):c.666C>T (p.Tyr222=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022691	NM_002796.3(PSMB4):c.347+15G>T	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021144	NM_002796.3(PSMB4):c.582G>A (p.Leu194=)	PSMB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001286	NM_002796.3(PSMB4):c.764A>G (p.Asp255Gly)	PSMB4 (D255G)	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 1986565	NM_002796.3(PSMB4):c.576+8_576+9del	PSMB4	Deletion (intron variant)	not provided	GLikely benign
Select item 1986564	NM_002796.3(PSMB4):c.576+5del	PSMB4	Deletion (intron 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 1975145	NM_002796.3(PSMB4):c.141-14T>C	PSMB4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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