"GeneDx"[submitter] AND "PSMB8"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1248406	NM_148919.4(PSMB8):c.742+232C>T	PSMB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239292	NM_148919.4(PSMB8):c.742+85G>T	PSMB8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 429759	NM_148919.4(PSMB8):c.724T>C (p.Ser242Pro)	PSMB8 (S238P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181310	NM_148919.4(PSMB8):c.538-70C>A	PSMB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277080	NM_148919.4(PSMB8):c.537+63C>T	PSMB8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 356365	NM_148919.4(PSMB8):c.407+6C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome +3 more	GBenign
Select item 2581896	NM_148919.4(PSMB8):c.272G>C (p.Arg91Pro)	PSMB8 (R87P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308452	NM_148919.4(PSMB8):c.269C>T (p.Ser90Phe)	PSMB8 (S86F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 659832	NM_148919.4(PSMB8):c.224C>T (p.Thr75Met)	PSMB8 (T75M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1253407	NM_148919.4(PSMB8):c.147+244T>C	PSMB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294919	NM_148919.4(PSMB8):c.147+97T>G	PSMB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 356368	NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys)	PSMB8 (Q49K)	Single nucleotide variant (missense variant +1 more)	Proteosome-associated autoinflammatory syndrome +4 more	GBenign
Select item 356369	NM_148919.4(PSMB8):c.129T>C (p.Ala43=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Proteosome-associated autoinflammatory syndrome +2 more	GBenign
Select item 1275279	NC_000006.12:g.32844751C>T	PSMB8, PSMB8-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1248040	NC_000006.12:g.32844877TG[1]	PSMB8, PSMB8-AS1	Microsatellite	not provided	GBenign
Select item 1251687	NC_000006.12:g.32845024G>A	PSMB8, PSMB8-AS1	Single nucleotide variant	not provided	GBenign
Select item 1253267	NC_000006.12:g.32845081A>G	PSMB8, PSMB8-AS1	Single nucleotide variant	not provided	GBenign
Select item 1271041	NC_000006.12:g.32845139T>C	PSMB8, PSMB8-AS1	Single nucleotide variant	not provided	GBenign