PSME3[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2647805	NM_005789.4(PSME3):c.-1C>T	PSME3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3220476	NM_005789.4(PSME3):c.221A>G (p.Asn74Ser)	PSME3 (N85S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220477	NM_005789.4(PSME3):c.317A>G (p.Asn106Ser)	PSME3 (N117S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993635	NM_005789.4(PSME3):c.406-2A>G	PSME3 (Q148R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3220478	NM_005789.4(PSME3):c.607C>T (p.Arg203Cys)	PSME3 (R214C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220479	NM_005789.4(PSME3):c.611G>A (p.Arg204His)	PSME3 (R143H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic