MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
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Hereditary Autoinflammatory Diseases (D056660)
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Inflammation (D007249)
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Lipodystrophy (D008060)
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Skin Diseases (D012871)
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PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)

       Child Nodes:



 Sister Nodes: 
..expandAcneiform Eruptions (D017486) Child5
..expandAngiolymphoid Hyperplasia with Eosinophilia (D000796)
..expandAUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
..expandBorrone Di Rocco Crovato syndrome (C536577)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBreast Diseases (D001941) Child45
..expandC SYNDROME (OMIM:211750)
..expandCutaneous Fistula (D017577)
..expandDermatitis (D003872) Child57
..expandDermatoleukodystrophy (C538220)
..expandDermatomyositis (D003882) Child2
..expandEctodermal Dysplasia-Skin Fragility Syndrome (C536183)
..expandElastosis perforans serpiginosa (C536202)
..expandElliott Ludman Teebi syndrome (C536204)
..expandErythema (D004890) Child19
..expandExanthema (D005076) Child1
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFACES syndrome (C536384)
..expandFacial Dermatoses (D005148) Child11
..expandFlynn Aird syndrome (C537066)
..expandFoot Diseases (D005534) Child13
..expandHair Diseases (D006201) Child174  LSDB C:1
..expandHand Dermatoses (D006229) Child1
..expandHernandez Fragoso syndrome (C536062)
..expandINFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 (OMIM:614328)
..expandINFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
..expandKeratoacanthoma (D007636) Child1
..expandKeratosis (D007642) Child149
..expandLeg Dermatoses (D007868)
..expandLipomatosis (D008068) Child11
..expandLupus Erythematosus, Cutaneous (D008178) Child3
..expandMacroepiphyseal dysplasia, McAlister Coe type (C537721)
..expandMASS syndrome (C536030)
..expandMastocytosis (D008415) Child9
..expandMedian cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..expandMental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..expandMorgellons Disease (D055535)
..expandNail Diseases (D009260) Child42
..expandNecrobiotic Disorders (D017441) Child3
..expandNecrolytic Migratory Erythema (D058568)
..expandNephrogenic Fibrosing Dermopathy (D054989)
..expandOSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS (OMIM:612852)
..expandPanniculitis (D015434) Child6
..expandPeeling skin syndrome, acral type (C536316)
..expandPhotosensitivity Disorders (D010787) Child31
..expandPigmentation Disorders (D010859) Child147
..expandPROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
..expandPrurigo (D011536)
..expandPruritus (D011537) Child6
..expandPseudoatrophoderma Colli (C562909)
..expandPyoderma (D011711) Child3
..expandRosacea (D012393) Child1
..expandRoy Maroteaux Kremp syndrome (C535875)
..expandScalp Dermatoses (D012536) Child10
..expandScleredema Adultorum (D012592)
..expandScleroderma, Localized (D012594) Child5
..expandScleroderma, Systemic (D012595) Child7
..expandSebaceous Gland Diseases (D012625) Child12
..expandSkin Abnormalities (D012868) Child358  LSDB C:1
..expandSkin Diseases, Eczematous (D017443) Child35
..expandSkin Diseases, Genetic (D012873) Child462  LSDB C:1
..expandSkin Diseases, Infectious (D012874) Child103
..expandSkin Diseases, Metabolic (D012875) Child33
..expandSkin Diseases, Papulosquamous (D017444) Child26
..expandSkin Diseases, Vascular (D017445) Child33
..expandSkin Diseases, Vesiculobullous (D012872) Child54
..expandSkin Neoplasms (D012878) Child41
..expandSkin Ulcer (D012883) Child10
..expandSweat Gland Diseases (D013543) Child25
..expandUpton Young syndrome (C536473)
..expandXanthogranuloma, Juvenile (D014972)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10320
Name:PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
Definition:
Alternative IDs:
ParentIDs:MESH:D007249|MESH:D008060|MESH:D012871|MESH:D056660
TreeNumbers:C16.320.382/256040 |C17.800/256040 |C17.800.827.368/256040 |C17.800.849.391/256040 |C18.452.584.625/256040 |C18.452.880.391/256040 |C23.550.470/256040
Synonyms:AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME;ALDD PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC, INCLUDED |CANDLE |CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME |JMP SYNDROME |JOINT CON
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Pathology (process)|Skin disease
Reference: MedGen: 256040
MeSH: 256040
OMIM: 256040;
MSeqDR LSDB:  
Genes: PSMB8;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001090Abnormally large globe
3 HP:0008887Adipose tissue loss
4 HP:0001903Anemia
5 HP:0011675Arrhythmia
NAMDC:  Cardiac conduction block
HP:0040283
6 HP:0002829Arthralgia
7 HP:0002135Basal ganglia calcification
8 HP:0002653Bone pain
9 HP:0100490Camptodactyly of finger
10 HP:0001640Cardiomegaly
11 HP:0100759Clubbing of fingers
12 HP:0001635Congestive heart failure
13 HP:0000509Conjunctivitis
14 HP:0002987Elbow flexion contracture
15 HP:0003565Elevated erythrocyte sedimentation rate
16 HP:0002910Elevated hepatic transaminases
17 HP:0100534Episcleritis
18 HP:0010783Erythema
19 HP:0001508Failure to thrive
20 HP:0025131Finger swelling
21 HP:0005830Flexion contracture of toe
22 HP:0001507Growth abnormality
NAMDC:  Constitutional
23 HP:0002240Hepatomegaly
24 HP:0000953Hyperpigmentation of the skin
25 HP:0002155Hypertriglyceridemia
26 HP:0010702Increased antibody level in blood
27 HP:0001256Intellectual disability, mild
28 HP:0009125Lipodystrophy Childhood onset
29 HP:0100807Long fingers
30 HP:0000158Macroglossia
31 HP:0000400Macrotia
32 HP:0001935Microcytic anemia
33 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
34 HP:0000938Osteopenia
35 HP:0012490Panniculitis
36 HP:0000448Prominent nose
37 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
38 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
HP:0040283
39 HP:0003202Skeletal muscle atrophy
40 HP:0001744Splenomegaly
41 HP:0000179Thick lower lip vermilion
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter)5692PSMB4Pathogenicrs1553209373RCV000663378; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:3250041151373804151373804CA1:g.151373804C>AOMIM:602177.0004C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.*231C>T5696PSMB8Uncertain significancers539015992RCV001153028; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280850532808505GA6:g.32808505G>A-
NM_148919.4(PSMB8):c.*178G>A5696PSMB8Uncertain significancers886061309RCV000351802; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280855832808558CT6:g.32808558C>TClinGen:CA10621919
NM_148919.4(PSMB8):c.*140G>A5696PSMB8Benignrs115433903RCV001153029; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280859632808596CT6:g.32808596C>T-
NM_148919.4(PSMB8):c.*116C>T5696PSMB8Uncertain significancers56138642RCV001153030; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280862032808620GA6:g.32808620G>A-
NM_148919.4(PSMB8):c.*57C>T5696PSMB8Uncertain significancers1371496516RCV001153031; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280867932808679GA6:g.32808679G>A-
NM_148919.4(PSMB8):c.*24G>T5696PSMB8Benignrs115441230RCV000380872; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280871232808712CA6:g.32808712C>AClinGen:CA3746261C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.*8G>A5696PSMB8Uncertain significancers376750959RCV000288786; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280872832808728CT6:g.32808728C>TClinGen:CA3746265
NM_148919.4(PSMB8):c.*6G>C5696PSMB8Uncertain significancers371747700RCV000346106|RCV000501470; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN16937463280873032808730CG6:g.32808730C>GClinGen:CA3746266
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)5696PSMB8Uncertain significancers368551668RCV000554127; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280875232808752CT6:g.32808752C>TClinGen:CA3746269C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp)5696PSMB8Uncertain significancers371006338RCV000693874; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280875332808753GA6:g.32808753G>A-C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.804G>A (p.Leu268=)5696PSMB8Conflicting interpretations of pathogenicityrs371969268RCV000402787|RCV000503867|RCV001531632; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN169374|MedGen:CN51720263280876332808763CT6:g.32808763C>TClinGen:CA3746273
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg)5696PSMB8Uncertain significancers1554238585RCV000641292; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280876732808767AC6:g.32808767A>CClinGen:CA363588152C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu)5696PSMB8Uncertain significance-1RCV001361714; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280876932808769GC32808769-
NM_148919.4(PSMB8):c.756G>A (p.Lys252=)5696PSMB8Likely benign-1RCV001413755; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280881132808811CT32808811-
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr)5696PSMB8Uncertain significancers1582602825RCV000819576; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280881232808812TG6:g.32808812T>G-
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile)5696PSMB8Uncertain significancers746897143RCV001226644; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280931732809317CT6:g.32809317C>T-
NM_148919.4(PSMB8):c.732C>T (p.Gly244=)5696PSMB8Benign/Likely benignrs78909544RCV000641296; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280931832809318GA6:g.32809318G>AClinGen:CA3746306C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp)5696PSMB8Uncertain significancers200995701RCV000689557; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280931932809319CT6:g.32809319C>T-
NM_148919.4(PSMB8):c.731G>T (p.Gly244Val)5696PSMB8Uncertain significancers200995701RCV001319068; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280931932809319CA32809319-
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn)5696PSMB8Uncertain significancers1554238810RCV000641293; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280933532809335CT6:g.32809335C>TClinGen:CA363588370C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)5696PSMB8Uncertain significancers55853041RCV000301215; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280934932809349TC6:g.32809349T>CClinGen:CA3746312
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr)5696PSMB8Uncertain significancers767937121RCV000823100; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280935532809355AG6:g.32809355A>G-
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)5696PSMB8Uncertain significancers547653681RCV000337402; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280936432809364CT6:g.32809364C>TClinGen:CA3746314
NM_148919.4(PSMB8):c.672C>T (p.Ala224=)5696PSMB8Likely benign-1RCV001471319; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280937832809378GA32809378-
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser)5696PSMB8Uncertain significancers114636648RCV000700099; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280938032809380CA6:g.32809380C>A-C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp)5696PSMB8Uncertain significancers754578419RCV001321468; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280938432809384TG32809384-
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu)5696PSMB8Uncertain significancers141273371RCV001234734; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280938832809388GA6:g.32809388G>A-
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile)5696PSMB8Uncertain significancers137937891RCV000689718; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280941732809417CT6:g.32809417C>T-
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg)5696PSMB8Uncertain significancers1202502842RCV001063509|RCV001573942; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN51720263280942532809425CT6:g.32809425C>T-
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg)5696PSMB8Uncertain significancers1202502842RCV001337702; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280942532809425CG32809425-
NM_148919.4(PSMB8):c.624C>T (p.Tyr208=)5696PSMB8Likely benign-1RCV001446025; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280942632809426GA32809426-
NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs)5696PSMB8Pathogenicrs1769913209RCV001201474; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280943832809439GGTTCC6:g.32809438_32809439insTTCC-
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val)5696PSMB8Pathogenicrs387906680RCV000022739; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280944832809448CA6:g.32809448C>AClinGen:CA128697,OMIM:177046.0002,OMIM:177046.0003C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.600G>A (p.Thr200=)5696PSMB8Uncertain significance-1RCV001363971; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280945032809450CT32809450-
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln)5696PSMB8Uncertain significancers764672057RCV001054703; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280947532809475CT6:g.32809475C>T-
NM_148919.4(PSMB8):c.574C>T (p.Arg192Trp)5696PSMB8Uncertain significancers752232985RCV001062209; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280947632809476GA6:g.32809476G>A-
NM_148919.4(PSMB8):c.562G>A (p.Glu188Lys)5696PSMB8Uncertain significancers1012282076RCV001059354; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280948832809488CT6:g.32809488C>T-
NM_148919.4(PSMB8):c.556G>A (p.Val186Met)5696PSMB8Uncertain significancers78945358RCV001038577; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280949432809494CT6:g.32809494C>T-
NM_148919.4(PSMB8):c.555C>T (p.Tyr185=)5696PSMB8Likely benign-1RCV001472996; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280949532809495GA32809495-
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg)5696PSMB8Uncertain significancers1769920763RCV001225483; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280950632809506CT6:g.32809506C>T-
NM_148919.4(PSMB8):c.538-10C>T5696PSMB8Likely benignrs923980627RCV000641295|RCV001446601; NMedGen:CN517202|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280952232809522GA6:g.32809522G>AClinGen:CA137007446
NM_148919.4(PSMB8):c.537+8C>T5696PSMB8Likely benign-1RCV001410047; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280990332809903GA32809903-
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val)5696PSMB8Uncertain significancers1582605795RCV000814420; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280993132809931TC6:g.32809931T>C-
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr)5696PSMB8Uncertain significancers756049842RCV000805778; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280993332809933AG6:g.32809933A>G-
NM_148919.4(PSMB8):c.501C>T (p.Leu167=)5696PSMB8Benign/Likely benignrs11540143RCV000543389|RCV001702798; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN51720263280994732809947GA6:g.32809947G>AClinGen:CA3746364C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.493A>G (p.Met165Val)5696PSMB8Uncertain significancers747199589RCV001203750; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280995532809955TC6:g.32809955T>C-
NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp)5696PSMB8Uncertain significancers55835906RCV001237120; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280996132809961GA6:g.32809961G>A-
NM_148919.4(PSMB8):c.483G>A (p.Gln161=)5696PSMB8Benign/Likely benignrs41270492RCV000393405|RCV001726141; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN51720263280996532809965CT6:g.32809965C>TClinGen:CA3746370
NM_148919.4(PSMB8):c.451G>A (p.Ala151Thr)5696PSMB8Uncertain significancers749800130RCV001045272; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463280999732809997CT6:g.32809997C>T-
NM_148919.4(PSMB8):c.441A>G (p.Ser147=)5696PSMB8Likely benignrs1582606252RCV000941324|RCV001414920; NMedGen:CN517202|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281000732810007TC6:g.32810007T>C-
NM_148919.4(PSMB8):c.433C>T (p.Arg145Cys)5696PSMB8Likely benignrs116076690RCV000900555; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281001532810015GA6:g.32810015G>A-
NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln)5696PSMB8Uncertain significancers1181818643RCV001306743; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281002632810026CT32810026-
NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter)5696PSMB8Pathogenicrs374929612RCV001224235; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281002732810027GA6:g.32810027G>A-
NM_148919.4(PSMB8):c.407+6C>T5696PSMB8Benignrs9276810RCV000297635|RCV000455281|RCV001675864; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN169374|MedGen:CN51720263281044332810443GA6:g.32810443G>AClinGen:CA3746398
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)5696PSMB8Pathogenicrs146254972RCV000022741; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281045132810451GT6:g.32810451G>TOMIM:177046.0004C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu)5696PSMB8Uncertain significancers369078226RCV000641294; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281047032810470CA6:g.32810470C>AClinGen:CA363589099C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.386G>A (p.Arg129His)5696PSMB8Uncertain significancers369078226RCV001036886; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281047032810470CT6:g.32810470C>T-
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys)5696PSMB8Uncertain significancers757343575RCV001093596; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281047132810471GA6:g.32810471G>A-
NM_148919.4(PSMB8):c.384G>A (p.Glu128=)5696PSMB8Likely benignrs547664445RCV000939032|RCV001450284; NMedGen:CN517202|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281047232810472CT6:g.32810472C>T-
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser)5696PSMB8Uncertain significancers767636318RCV000804736; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281048532810485CG6:g.32810485C>G-
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn)5696PSMB8Uncertain significancers1769994178RCV001093597; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281048932810489CT6:g.32810489C>T-
NM_148919.4(PSMB8):c.351G>A (p.Met117Ile)5696PSMB8Uncertain significancers754243092RCV001352599; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281050532810505CT32810505-
NM_148919.4(PSMB8):c.350T>C (p.Met117Thr)5696PSMB8Uncertain significancers1769996135RCV001064078; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281050632810506AG6:g.32810506A>G-
NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr)5696PSMB8Uncertain significancers1769997640RCV001225524; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281052532810525GT6:g.32810525G>T-
NM_148919.4(PSMB8):c.316G>A (p.Val106Met)5696PSMB8Uncertain significancers1254158106RCV001237038; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281054032810540CT6:g.32810540C>T-
NM_148919.4(PSMB8):c.315G>A (p.Lys105=)5696PSMB8Likely benign-1RCV001482557; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281054132810541CT32810541-
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln)5696PSMB8Pathogenicrs1554239543RCV000663374; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281054332810543TG6:g.32810543T>GOMIM:177046.0005C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met)5696PSMB8Uncertain significancers371826956RCV000808847; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281054932810550CCTTNC_000006.11:g.32810549_32810550delinsTT-
NM_148919.4(PSMB8):c.304C>T (p.Arg102Trp)5696PSMB8Uncertain significancers1402857650RCV001212055; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281055232810552GA6:g.32810552G>A-
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly)5696PSMB8Uncertain significancers1381795628RCV000696967; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281071932810719TC6:g.32810719T>C-C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln)5696PSMB8Uncertain significancers780859553RCV001232746; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281074232810742CT6:g.32810742C>T-
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu)5696PSMB8Uncertain significancers529946385RCV000797256; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281077432810774GC6:g.32810774G>C-
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr)5696PSMB8Uncertain significancers774341327RCV000707724; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281078532810785CT6:g.32810785C>T-C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met)5696PSMB8Pathogenicrs748082671RCV000663373|RCV000816894; NMedGen:C4749059|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281079032810790GA6:g.32810790G>AOMIM:177046.0001
NM_148919.4(PSMB8):c.222C>A (p.Thr74=)5696PSMB8Benignrs116638337RCV000540113; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281079232810792GT6:g.32810792G>TClinGen:CA3746459
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser)5696PSMB8Benignrs17220206RCV000528249|RCV001528820|RCV001573158; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN169374|MedGen:CN51720263281079432810794TA6:g.32810794T>AClinGen:CA3746460
NM_148919.4(PSMB8):c.195T>A (p.Val65=)5696PSMB8Likely benign-1RCV001440147; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281081932810819AT32810819-
NM_148919.4(PSMB8):c.193G>A (p.Val65Ile)5696PSMB8Uncertain significance-1RCV001363614; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281082132810821CT32810821-
NM_148919.4(PSMB8):c.192C>T (p.Asn64=)5696PSMB8Benignrs79482999RCV000361613; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281082232810822GA6:g.32810822G>AClinGen:CA3746464
NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg)5696PSMB8Uncertain significancers1007524117RCV001210473; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281083332810833CT6:g.32810833C>T-
NM_148919.4(PSMB8):c.180C>T (p.Asp60=)5696PSMB8Uncertain significancers757858465RCV001157333; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281083432810834GA6:g.32810834G>A-
NM_148919.4(PSMB8):c.170T>C (p.Leu57Pro)5696PSMB8Uncertain significancers1770032427RCV001352356; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281084432810844AG32810844-
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys)5696PSMB8Uncertain significancers1562352512RCV000688424; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281084632810847GGACNC_000006.11:g.32810846_32810847delinsAC-
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr)5696PSMB8Uncertain significancers886061310RCV000266887; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281084732810847GT6:g.32810847G>TClinGen:CA10626482
NM_148919.4(PSMB8):c.148-10_148-6del5696PSMB8Uncertain significancers1562352647RCV001069976; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281087232810876TAAGAGT6:g.32810872_32810876del-
NM_148919.4(PSMB8):c.148-18C>T5696PSMB8Benign-1RCV001520160; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281088432810884GA32810884-
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys)5696PSMB8Benignrs2071543RCV000303434|RCV000455896|RCV001613181; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN169374|MedGen:CN51720263281162932811629GT6:g.32811629G>TClinGen:CA3746493,UniProtKB:P28062#VAR_065204C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.144G>A (p.Met48Ile)5696PSMB8Uncertain significance-1RCV001367482; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281163032811630CT32811630-
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln)5696PSMB8Uncertain significancers758313787RCV001063974; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281163732811637CT6:g.32811637C>T-
NM_148919.4(PSMB8):c.133C>A (p.Pro45Thr)5696PSMB8Uncertain significancers776484021RCV001300937; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281164132811641GT32811641-
NM_148919.4(PSMB8):c.129T>C (p.Ala43=)5696PSMB8Benignrs2071542RCV000358183|RCV001643079; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN51720263281164532811645AG6:g.32811645A>GClinGen:CA3746497
NM_148919.4(PSMB8):c.127G>T (p.Ala43Ser)5696PSMB8Uncertain significancers780017925RCV001234553; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281164732811647CA6:g.32811647C>A-
NM_148919.4(PSMB8):c.100A>G (p.Ser34Gly)5696PSMB8Uncertain significance-1RCV001371846; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281167432811674TC32811674-
NM_148919.4(PSMB8):c.35G>T (p.Gly12Val)5696PSMB8Uncertain significancers1770125566RCV001299027; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281173932811739CA32811739-
NM_148919.4(PSMB8):c.26C>T (p.Ala9Val)5696PSMB8Uncertain significancers1770128124RCV001313987; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281174832811748GA32811748-
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg)5696PSMB8Benignrs114772012RCV000272614|RCV001572723; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:325004|MedGen:CN51720263281175232811752CT6:g.32811752C>TClinGen:CA3746516,UniProtKB:P28062#VAR_006488C1850568 256040 Nakajo syndrome;
NM_148919.4(PSMB8):c.21C>T (p.Cys7=)5696PSMB8Likely benign-1RCV001437845; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281175332811753GA32811753-
NM_148919.4(PSMB8):c.15T>C (p.Asp5=)5696PSMB8Likely benignrs768986846RCV000941780|RCV001410475; NMedGen:CN517202|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281175932811759AG6:g.32811759A>G-
NM_148919.4(PSMB8):c.-35C>T5696PSMB8Uncertain significancers886061311RCV000327766; NMONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040, Orphanet:2615, Orphanet:324977, Orphanet:324999, Orphanet:32500463281180832811808GA6:g.32811808G>AClinGen:CA10621923C1850568 256040 Nakajo syndrome;
MSeqDR Portal