ClinVar for Gene (Select 56984) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 319

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341559	NM_020232.5(PSMG2):c.289-28C>A	PSMG2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063538	GRCh37/hg19 18p11.21(chr18:11200889-12792186)x3	AFG3L2, ANKRD62 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
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 3021337	NM_020232.5(PSMG2):c.666G>A (p.Glu222=)	PSMG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020876	NM_020232.5(PSMG2):c.66A>G (p.Val22=)	PSMG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009535	NM_020232.5(PSMG2):c.702+14T>C	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009534	NM_020232.5(PSMG2):c.57+18C>G	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001849	NM_020232.5(PSMG2):c.389A>G (p.Asn130Ser)	PSMG2 (N130S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990078	NM_020232.5(PSMG2):c.295_298del (p.Lys100fs)	PSMG2 (K100fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2986449	NM_020232.5(PSMG2):c.408-17T>C	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986076	NM_020232.5(PSMG2):c.229+3A>G	PSMG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2982651	NM_020232.5(PSMG2):c.499C>T (p.Arg167Trp)	PSMG2 (R136W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982620	NM_020232.5(PSMG2):c.412C>T (p.Pro138Ser)	PSMG2 (P107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978492	NM_020232.5(PSMG2):c.1A>G (p.Met1Val)	PSMG2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2970428	NM_020232.5(PSMG2):c.535A>G (p.Ile179Val)	PSMG2 (I148V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968329	NM_020232.5(PSMG2):c.433C>T (p.Pro145Ser)	PSMG2 (P145S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963133	NM_020232.5(PSMG2):c.538C>T (p.Arg180Cys)	PSMG2 (R149C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908296	NM_020232.5(PSMG2):c.448A>T (p.Ser150Cys)	PSMG2 (S150C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907079	NM_020232.5(PSMG2):c.408-2A>G	PSMG2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2905773	NM_020232.5(PSMG2):c.702+10A>G	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896762	NM_020232.5(PSMG2):c.91G>T (p.Ala31Ser)	PSMG2 (A31S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876590	NM_020232.5(PSMG2):c.128A>C (p.Lys43Thr)	PSMG2 (K12T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865235	NM_020232.5(PSMG2):c.581+9G>A	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837561	NM_020232.5(PSMG2):c.124T>A (p.Ser42Thr)	PSMG2 (S11T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816026	NM_020232.5(PSMG2):c.459T>A (p.Asn153Lys)	PSMG2 (N122K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812928	NM_020232.5(PSMG2):c.116T>A (p.Leu39Gln)	PSMG2 (L39Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805582	NM_020232.5(PSMG2):c.634G>C (p.Asp212His)	PSMG2 (D212H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797263	NM_020232.5(PSMG2):c.38C>G (p.Ala13Gly)	PSMG2 (A13G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2797143	NM_020232.5(PSMG2):c.525C>G (p.Ser175=)	PSMG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797121	NM_020232.5(PSMG2):c.560C>A (p.Thr187Lys)	PSMG2 (T156K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795162	NM_020232.5(PSMG2):c.230-9T>G	PSMG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794418	NM_020232.5(PSMG2):c.564A>C (p.Lys188Asn)	PSMG2 (K157N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794024	NM_020232.5(PSMG2):c.561A>T (p.Thr187=)	PSMG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792306	NM_020232.5(PSMG2):c.645A>G (p.Pro215=)	PSMG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789951	NM_020232.5(PSMG2):c.143A>T (p.Tyr48Phe)	PSMG2 (Y48F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786949	NM_020232.5(PSMG2):c.603G>A (p.Met201Ile)	PSMG2 (M170I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786388	NM_020232.5(PSMG2):c.746G>A (p.Ser249Asn)	PSMG2 (S249N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783057	NM_020232.5(PSMG2):c.709G>T (p.Asp237Tyr)	PSMG2 (D206Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775499	NM_020232.5(PSMG2):c.661G>C (p.Val221Leu)	PSMG2 (V190L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746973	NM_020232.5(PSMG2):c.474T>C (p.Leu158=)	PSMG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745432	NM_020232.5(PSMG2):c.366A>C (p.Ser122=)	PSMG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740730	NM_020232.5(PSMG2):c.186G>A (p.Ala62=)	PSMG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722645	NM_020232.5(PSMG2):c.517del (p.Asp173fs)	PSMG2 (D173fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2712991	NM_020232.5(PSMG2):c.385C>T (p.Arg129Cys)	PSMG2 (R129C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709284	NM_020232.5(PSMG2):c.499C>G (p.Arg167Gly)	PSMG2 (R167G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701585	NM_020232.5(PSMG2):c.289-19C>A	PSMG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2696005	NM_020232.5(PSMG2):c.289-18T>A	PSMG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688103	NM_020232.5(PSMG2):c.57+29C>T	PSMG2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688102	NM_020232.5(PSMG2):c.-40A>G	PSMG2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
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 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 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
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 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 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 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 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 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 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 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
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 2426533	NC_000018.9:g.(?_10454979)_(12725530_?)del	AFG3L2, ANKRD62 +14 more	Deletion	not provided	GUncertain significance
Select item 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 2415676	NM_020232.5(PSMG2):c.706G>A (p.Asp236Asn)	PSMG2 (D205N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413270	NM_020232.5(PSMG2):c.584G>A (p.Cys195Tyr)	PSMG2 (C164Y +1 more)	Single nucleotide variant (missense variant)	not provided	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

<< First< Prev

Page of 4