Related gene-specific medical variations for Gene (Select 56984) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3242811	NC_000018.9:g.(?_12712681)_(12712779_?)del	PSMG2	Deletion	not provided	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 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 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 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 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 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 3060773	NM_024899.4(CEP76):c.515G>A (p.Ser172Asn)	CEP76, PSMG2 (S172N)	Single nucleotide variant (missense variant +2 more)	CEP76-related disorder	GBenign
Select item 3052591	NM_024899.4(CEP76):c.948A>T (p.Ile316=)	CEP76, PSMG2	Single nucleotide variant (synonymous variant +2 more)	CEP76-related disorder	GLikely benign
Select item 3050295	NM_024899.4(CEP76):c.607G>C (p.Gly203Arg)	CEP76, PSMG2 (G128R +1 more)	Single nucleotide variant (missense variant +2 more)	CEP76-related disorder	GBenign
Select item 3048600	NM_024899.4(CEP76):c.630A>C (p.Ser210=)	CEP76, PSMG2	Single nucleotide variant (synonymous variant +2 more)	CEP76-related disorder	GBenign
Select item 3040766	NM_024899.4(CEP76):c.934-10T>C	CEP76, PSMG2	Single nucleotide variant (intron variant)	CEP76-related disorder	GLikely benign
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 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 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 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 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 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 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 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 2435276	NM_020232.5(PSMG2):c.377C>G (p.Ser126Ter)	PSMG2 (S126* +1 more)	Single nucleotide variant (nonsense)	Proteasome-associated autoinflammatory syndrome 4	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 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 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 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 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 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 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 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 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 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 599570	NM_024899.4(CEP76):c.985G>A (p.Ala329Thr)	CEP76, PSMG2 (A329T +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GUncertain significance
Select item 599569	NM_024899.4(CEP76):c.108A>G (p.Ile36Met)	CEP76, PSMG2 (I36M)	Single nucleotide variant (missense variant +2 more)	Short stature	GUncertain significance
Select item 599568	NM_024899.4(CEP76):c.1874G>A (p.Arg625His)	CEP76, PSMG2 (R625H +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic

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Links from Gene

Items: 41