PSMB2[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 3220372	NM_002794.5(PSMB2):c.602C>A (p.Ser201Tyr)	PSMB2 (S176Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411269	NM_002794.5(PSMB2):c.568G>A (p.Asp190Asn)	PSMB2 (D165N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324894	NM_002794.5(PSMB2):c.484A>G (p.Lys162Glu)	PSMB2 (K162E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383674	NM_002794.5(PSMB2):c.466G>A (p.Ala156Thr)	PSMB2 (A131T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467237	NM_002794.5(PSMB2):c.457C>T (p.Arg153Cys)	PSMB2 (R36C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220371	NM_002794.5(PSMB2):c.453C>G (p.Ile151Met)	PSMB2 (I126M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301631	NM_002794.5(PSMB2):c.403G>A (p.Gly135Ser)	PSMB2 (G110S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511557	NM_002794.5(PSMB2):c.254G>A (p.Arg85His)	LOC129388495, PSMB2 (R60H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317925	NM_002794.5(PSMB2):c.233C>T (p.Thr78Met)	LOC129388495, PSMB2 (T53M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220370	NM_002794.5(PSMB2):c.217T>C (p.Tyr73His)	LOC129388495, PSMB2 (Y73H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526873	GRCh37/hg19 1p34.3(chr1:35950860-36465764)	AGO1, AGO3 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic

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Items: 25