"Ambry Genetics"[submitter] AND "PSMG2"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2366866	NM_024899.4(CEP76):c.1727A>G (p.Asn576Ser)	CEP76, PSMG2 (N501S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266262	NM_024899.4(CEP76):c.1706C>T (p.Thr569Ile)	CEP76, PSMG2 (T494I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266267	NM_024899.4(CEP76):c.1656G>T (p.Gln552His)	CEP76, PSMG2 (Q477H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2616276	NM_024899.4(CEP76):c.1595T>G (p.Leu532Arg)	CEP76, PSMG2 (L532R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305379	NM_024899.4(CEP76):c.1483G>A (p.Ala495Thr)	CEP76, PSMG2 (A495T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143041	NM_024899.4(CEP76):c.1406G>A (p.Cys469Tyr)	CEP76, PSMG2 (C469Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471043	NM_024899.4(CEP76):c.1328T>A (p.Val443Asp)	CEP76, PSMG2 (V368D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266264	NM_024899.4(CEP76):c.1234A>G (p.Met412Val)	CEP76, PSMG2 (M412V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266265	NM_024899.4(CEP76):c.1157G>C (p.Ser386Thr)	CEP76, PSMG2 (S386T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600430	NM_024899.4(CEP76):c.1094C>T (p.Thr365Ile)	CEP76, PSMG2 (T290I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143040	NM_024899.4(CEP76):c.1031A>G (p.Asn344Ser)	CEP76, PSMG2 (N344S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143046	NM_024899.4(CEP76):c.893G>A (p.Arg298Gln)	CEP76, PSMG2 (R223Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230938	NM_024899.4(CEP76):c.842G>A (p.Arg281Gln)	CEP76, PSMG2 (R281Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553971	NM_024899.4(CEP76):c.830C>T (p.Ala277Val)	CEP76, PSMG2 (A202V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337082	NM_024899.4(CEP76):c.756G>A (p.Met252Ile)	CEP76, PSMG2 (M177I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143045	NM_024899.4(CEP76):c.679A>C (p.Ser227Arg)	CEP76, PSMG2 (S152R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266263	NM_024899.4(CEP76):c.553A>G (p.Met185Val)	CEP76, PSMG2 (M110V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268616	NM_024899.4(CEP76):c.542A>G (p.Asp181Gly)	CEP76, PSMG2 (D106G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568185	NM_024899.4(CEP76):c.530C>A (p.Thr177Asn)	CEP76, PSMG2 (T177N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143043	NM_024899.4(CEP76):c.443G>A (p.Arg148His)	CEP76, PSMG2 (R148H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456589	NM_024899.4(CEP76):c.398G>A (p.Cys133Tyr)	CEP76, PSMG2 (C133Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223232	NM_024899.4(CEP76):c.398G>T (p.Cys133Phe)	CEP76, PSMG2 (C133F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266266	NM_024899.4(CEP76):c.305A>G (p.Asp102Gly)	CEP76, PSMG2 (D102G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143042	NM_024899.4(CEP76):c.272A>T (p.Asp91Val)	CEP76, PSMG2 (D91V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242656	NM_024899.4(CEP76):c.262A>G (p.Ile88Val)	CEP76, PSMG2 (I88V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2249820	NM_024899.4(CEP76):c.232C>G (p.Gln78Glu)	CEP76, PSMG2 (Q78E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556718	NM_024899.4(CEP76):c.181A>G (p.Ile61Val)	CEP76, PSMG2 (I61V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391014	NM_024899.4(CEP76):c.109C>T (p.Arg37Trp)	CEP76, PSMG2 (R37W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369242	NM_024899.4(CEP76):c.71T>C (p.Val24Ala)	CEP76, PSMG2 (V24A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350700	NM_024899.4(CEP76):c.23C>T (p.Ala8Val)	CEP76, PSMG2 (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493167	NM_024899.4(CEP76):c.11C>T (p.Pro4Leu)	CEP76, PSMG2 (P4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1021747	NM_020232.5(PSMG2):c.34C>T (p.Leu12Phe)	PSMG2 (L12F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2287407	NM_020232.5(PSMG2):c.80T>C (p.Val27Ala)	PSMG2 (V27A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220516	NM_020232.5(PSMG2):c.108T>G (p.Ile36Met)	PSMG2 (I5M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557774	NM_020232.5(PSMG2):c.119A>C (p.Asn40Thr)	PSMG2 (N9T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220517	NM_020232.5(PSMG2):c.125C>T (p.Ser42Phe)	PSMG2 (S42F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1369351	NM_020232.5(PSMG2):c.148G>A (p.Asp50Asn)	PSMG2 (D50N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1571659	NM_020232.5(PSMG2):c.163A>G (p.Met55Val)	PSMG2 (M24V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3220518	NM_020232.5(PSMG2):c.184G>A (p.Ala62Thr)	PSMG2 (A31T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1439549	NM_020232.5(PSMG2):c.185C>T (p.Ala62Val)	PSMG2 (A62V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2487344	NM_020232.5(PSMG2):c.295T>C (p.Ser99Pro)	PSMG2 (S68P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618801	NM_020232.5(PSMG2):c.358G>A (p.Val120Ile)	PSMG2 (V89I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539641	NM_020232.5(PSMG2):c.370A>G (p.Ser124Gly)	PSMG2 (S124G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3311046	NM_020232.5(PSMG2):c.431C>G (p.Thr144Arg)	PSMG2 (T113R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1425023	NM_020232.5(PSMG2):c.442C>A (p.Gln148Lys)	PSMG2 (Q117K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2235028	NM_020232.5(PSMG2):c.575A>G (p.Asp192Gly)	PSMG2 (D192G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276523	NM_020232.5(PSMG2):c.725C>G (p.Ala242Gly)	PSMG2 (A242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1496904	NM_020232.5(PSMG2):c.731G>A (p.Arg244Gln)	PSMG2 (R244Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1391289	NM_020232.5(PSMG2):c.784G>A (p.Ala262Thr)	PSMG2 (A262T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 49