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Mannosidase Deficiency Diseases (D044904)
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alpha-Mannosidosis (D008363)

       Child Nodes:
........expandAlpha-mannosidosis type 1 (C536584)
........expandAlpha-mannosidosis, type 2 (C536585)
........expandalpha-Mannosidosis, Type II (C565418)



 Sister Nodes: 
..expandalpha-Mannosidosis (D008363) Child3
..expandbeta-Mannosidosis (D044905) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:483
Name:alpha-Mannosidosis
Definition:An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
Alternative IDs:DO:DOID:3413|OMIM:248500
ParentIDs:MESH:D044904
TreeNumbers:C16.320.565.202.607.500 |C16.320.565.595.577.500 |C18.452.648.202.607.500 |C18.452.648.595.577.500
Synonyms:alpha-D-Mannosidase Deficiencies, Lysosomal |alpha-D-Mannosidase Deficiency, Lysosomal |Alpha-D-Mannosidosis |alpha Mannosidase B Deficiency |Alpha-Mannosidase B Deficiency |alpha-Mannosidase Deficiencies |alpha Mannosidase Deficiency |alpha-Mannosidase Deficie
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D008363
MeSH: D008363
OMIM: 248500;
MSeqDR LSDB:  
Genes: COL4A5; MAN2B1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001547Abnormality of the rib cage
3 HP:0003487Babinski sign
4 HP:0000337Broad forehead
5 HP:0001272Cerebellar atrophy
6 HP:0002059Cerebral atrophy
7 HP:0000280Coarse facial features
8 HP:0004313Decreased antibody level in blood
9 HP:0012448Delayed myelination
10 HP:0000457Depressed nasal ridge
11 HP:0001260Dysarthria
NAMDC:  Dysarthria
12 HP:0000943Dysostosis multiplex
13 HP:0000286Epicanthus
14 HP:0002980Femoral bowing
15 HP:0005469Flat occiput
16 HP:0002007Frontal bossing
17 HP:0002066Gait ataxia
18 HP:0001290Generalized hypotonia
19 HP:0000212Gingival overgrowth
20 HP:0002171Gliosis
21 HP:0001263Global developmental delay
NAMDC:  Mental retardation
22 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
23 HP:0001510Growth delay
NAMDC:  Growth delay
24 HP:0002240Hepatomegaly
25 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
26 HP:0000998Hypertrichosis
27 HP:0007772Impaired smooth pursuit Adult onset
28 HP:0004570Increased vertebral height
29 HP:0000023Inguinal hernia
30 HP:0001249Intellectual disability
31 HP:0002070Limb ataxia
32 HP:0000294Low anterior hairline
33 HP:0000256Macrocephaly
34 HP:0000158Macroglossia
35 HP:0000400Macrotia
36 HP:0000272Malar flattening
37 HP:0000303Mandibular prognathia
38 HP:0011800Midface retrusion
39 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
40 HP:0000639Nystagmus
41 HP:0000768Pectus carinatum
42 HP:0002718Recurrent bacterial infections
43 HP:0000546Retinal degeneration Adult onset
44 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
45 HP:0001257Spasticity
NAMDC:  Spasticity
46 HP:0007232Spinocerebellar tract disease in lower limbs
47 HP:0001744Splenomegaly
48 HP:0003302Spondylolisthesis
49 HP:0000574Thick eyebrow
50 HP:0002684Thickened calvaria
51 HP:0005619Thoracolumbar kyphosis
52 HP:0001922Vacuolated lymphocytes
53 HP:0000687Widely spaced teeth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000528.4(MAN2B1):c.*105C>G4125MAN2B1Uncertain significancers547349667RCV000380408; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275732912757329GCNC_000019.9:g.12757329G>CClinGen:CA10642316C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.*100T>G4125MAN2B1Uncertain significancers886054227RCV000278964; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275733412757334ACNC_000019.9:g.12757334A>CClinGen:CA10648307C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.*91C>T4125MAN2B1Uncertain significancers145108101RCV001122459; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275734312757343GA19:g.12757343G>A-
NM_000528.4(MAN2B1):c.*42G>A4125MAN2B1Likely benignrs149101136RCV000336410; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275739212757392CTNC_000019.9:g.12757392C>TClinGen:CA9225821C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.*41C>T4125MAN2B1Uncertain significancers371716069RCV001122460; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275739312757393GA19:g.12757393G>A-
NC_000019.9:g.(?_12757424)_(12758422_?)del4125MAN2B1Pathogenic-1RCV001951449; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275742412758422nana-1-
NM_000528.4(MAN2B1):c.3033T>C (p.Gly1011=)4125MAN2B1Likely benign-1RCV001400876; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275743712757437AG12757437-
NM_000528.4(MAN2B1):c.3024G>A (p.Glu1008=)4125MAN2B1Likely benign-1RCV001990038; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275744612757446CT12757446-
NM_000528.4(MAN2B1):c.3015A>G (p.Gln1005=)4125MAN2B1Uncertain significance-1RCV001896643; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275745512757455TC12757455-
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)4125MAN2B1Conflicting interpretations of pathogenicityrs2023694204RCV001122461; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275746412757464GT19:g.12757464G>T-
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)4125MAN2B1Uncertain significancers864621991RCV000206935; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275747112757471AGNC_000019.9:g.12757471A>GClinGen:CA350932,UniProtKB:O00754#VAR_068069C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2994C>T (p.Arg998=)4125MAN2B1Likely benign-1RCV001476604; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275747612757476GA12757476-
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His)4125MAN2B1Benignrs202174515RCV000904698; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275747712757477CT19:g.12757477C>T-
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)4125MAN2B1Uncertain significancers886054228RCV000374686; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275747912757479GANC_000019.9:g.12757479G>AClinGen:CA10642318C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)4125MAN2B1Conflicting interpretations of pathogenicityrs148945108RCV000908443; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275749712757497CT19:g.12757497C>T-
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)4125MAN2B1Uncertain significancers753397171RCV000804959; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275750412757504TC19:g.12757504T>C-
NM_000528.4(MAN2B1):c.2964C>G (p.Ala988=)4125MAN2B1Likely benign-1RCV002178903; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275750612757506GC12757506-
NM_000528.4(MAN2B1):c.2961G>A (p.Pro987=)4125MAN2B1Likely benignrs369658144RCV000939777; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275750912757509CT19:g.12757509C>T-
NM_000528.4(MAN2B1):c.2961G>T (p.Pro987=)4125MAN2B1Likely benign-1RCV002147152; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275750912757509CA12757509-
NM_000528.4(MAN2B1):c.2960C>T (p.Pro987Leu)4125MAN2B1Uncertain significance-1RCV002029711; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275751012757510GA12757510-
NM_000528.4(MAN2B1):c.2952G>A (p.Gln984=)4125MAN2B1Likely benign-1RCV001453675; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275751812757518CT12757518-
NM_000528.4(MAN2B1):c.2946G>A (p.Pro982=)4125MAN2B1Likely benign-1RCV001455253; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275752412757524CT12757524-
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu)4125MAN2B1Uncertain significance-1RCV001919379; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275752512757525GA12757525-
NM_000528.4(MAN2B1):c.2932C>A (p.Pro978Thr)4125MAN2B1Uncertain significance-1RCV001935042; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275753812757538GT12757538-
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)4125MAN2B1Uncertain significancers766559062RCV001278021; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275754312757543GA19:g.12757543G>A-
NM_000528.4(MAN2B1):c.2924-4C>T4125MAN2B1Likely benign-1RCV001424829; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275755012757550GA12757550-
NM_000528.4(MAN2B1):c.2923+9C>T4125MAN2B1Likely benign-1RCV001399411; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275803812758038GA12758038-
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)4125MAN2B1Likely pathogenicrs1057516897RCV000412417; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275804812758048CTCNC_000019.9:g.12758048delClinGen:CA16041944C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs)4125MAN2B1Likely pathogenicrs1555705992RCV000666750; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275804812758049CTGC19:g.12758048_12758049del-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)4125MAN2B1Pathogenic-1RCV001872910; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275804912758050GGT12758049-
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp)4125MAN2B1Uncertain significancers148080695RCV000631884; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275805312758053TC19:g.12758053T>CClinGen:CA9225881C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2913A>G (p.Thr971=)4125MAN2B1Likely benign-1RCV001448189; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275805712758057TC12758057-
NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile)4125MAN2B1Uncertain significancers2023709677RCV001305830; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275805812758058GA12758058-
NM_000528.4(MAN2B1):c.2906A>G (p.Lys969Arg)4125MAN2B1Uncertain significance-1RCV001934849; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275806412758064TC12758064-
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)4125MAN2B1Likely pathogenicrs2023710111RCV001217756; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275806812758083AGCCTGGAGGCTGCCTCA19:g.12758068_12758083del-
NM_000528.4(MAN2B1):c.2898C>T (p.Ser966=)4125MAN2B1Likely benign-1RCV002154766; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275807212758072GA12758072-
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala)4125MAN2B1Uncertain significancers1365532315RCV001207372; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275807412758074AC19:g.12758074A>C-
NM_000528.4(MAN2B1):c.2892A>G (p.Ala964=)4125MAN2B1Likely benign-1RCV001466875; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275807812758078TC12758078-
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)4125MAN2B1Pathogenicrs757072948RCV001236147; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275808312758083CA19:g.12758083C>A-
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)4125MAN2B1Uncertain significancers142797984RCV000282265; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275808412758084GA19:g.12758084G>AClinGen:CA9225887C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His)4125MAN2B1Uncertain significancers750173812RCV000670138; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275808512758085CT19:g.12758085C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys)4125MAN2B1Benignrs370276057RCV000926142; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275808612758086GA19:g.12758086G>A-
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)4125MAN2B1Conflicting interpretations of pathogenicityrs1376771729RCV001125241; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275808712758087GT19:g.12758087G>T-
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)4125MAN2B1Pathogenicrs1599337939RCV000824891; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275809112758106CTGGTTGGCCACCAGCGC19:g.12758091_12758106del-
NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg)4125MAN2B1Uncertain significancers2023711115RCV001278022; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275809112758091TC19:g.12758091T>C-
NM_000528.4(MAN2B1):c.2877C>T (p.Asn959=)4125MAN2B1Likely benign-1RCV001496061; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275809312758093GA12758093-
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)4125MAN2B1Uncertain significancers768233248RCV000206896; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275810312758103AC19:g.12758103A>CClinGen:CA350887,UniProtKB:O00754#VAR_068068C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)4125MAN2B1Conflicting interpretations of pathogenicityrs148108322RCV000675472|RCV001079772|RCV001705728; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN169374191275810512758105CG19:g.12758105C>GClinGen:CA221085CN517202 not provided;
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)4125MAN2B1Conflicting interpretations of pathogenicityrs148108322RCV000348896; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275810512758105CT19:g.12758105C>TClinGen:CA9225892C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2864C>T (p.Thr955Met)4125MAN2B1Uncertain significance-1RCV001877935; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275810612758106GA12758106-
NM_000528.4(MAN2B1):c.2862C>T (p.Thr954=)4125MAN2B1Likely benign-1RCV002082918; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275810812758108GA12758108-
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)4125MAN2B1Uncertain significancers1318861970RCV001055378; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275811412758114CT19:g.12758114C>T-
NM_000528.4(MAN2B1):c.2853G>A (p.Leu951=)4125MAN2B1Likely benign-1RCV002196676; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275811712758117CT12758117-
NM_000528.4(MAN2B1):c.2850C>A (p.Arg950=)4125MAN2B1Likely benign-1RCV002172013; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275812012758120GT12758120-
NM_000528.4(MAN2B1):c.2850C>T (p.Arg950=)4125MAN2B1Likely benign-1RCV002176863; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275812012758120GA12758120-
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro)4125MAN2B1Uncertain significancers139041112RCV000206972; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275812112758121CG19:g.12758121C>GClinGen:CA350975,UniProtKB:O00754#VAR_068067C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)4125MAN2B1Uncertain significancers139041112RCV001125242; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275812112758121CT19:g.12758121C>T-
NM_000528.4(MAN2B1):c.2846C>T (p.Thr949Ile)4125MAN2B1Uncertain significance-1RCV001948791; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275812412758124GA12758124-
NM_000528.4(MAN2B1):c.2841C>A (p.Thr947=)4125MAN2B1Likely benignrs1599338014RCV000972335|RCV002066428; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275812912758129GT19:g.12758129G>T-
NM_000528.4(MAN2B1):c.2826G>A (p.Leu942=)4125MAN2B1Likely benign-1RCV002074728; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275814412758144CT12758144-
NM_000528.4(MAN2B1):c.2821-4G>A4125MAN2B1Likely benign-1RCV002176717; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275815312758153CT12758153-
NM_000528.4(MAN2B1):c.2821-5C>T4125MAN2B1Likely benignrs761870446RCV000911748; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275815412758154GA19:g.12758154G>A-
NM_000528.4(MAN2B1):c.2821-9T>C4125MAN2B1Likely benign-1RCV001440228; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275815812758158AG12758158-
NM_000528.4(MAN2B1):c.2821-19C>T4125MAN2B1Likely benign-1RCV002125908; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275816812758168GA12758168-
NM_000528.4(MAN2B1):c.2820+10G>A4125MAN2B1Likely benign-1RCV001405269; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275824712758247CT12758247-
NM_000528.4(MAN2B1):c.2820+1G>A4125MAN2B1Likely pathogenicrs768734132RCV000671546; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275825612758256CT19:g.12758256C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)4125MAN2B1Pathogenic/Likely pathogenicrs1057516864RCV000409219; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275827412758275CCGNC_000019.9:g.12758279dupClinGen:CA16041945C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2803G>A (p.Val935Ile)4125MAN2B1Uncertain significance-1RCV001930688; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275827412758274CT12758274-
NM_000528.4(MAN2B1):c.2802C>T (p.Pro934=)4125MAN2B1Likely benign-1RCV001487342; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275827512758275GA12758275-
NM_000528.4(MAN2B1):c.2799C>T (p.Ala933=)4125MAN2B1Likely benign-1RCV001496956; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275827812758278GA12758278-
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg)4125MAN2B1Uncertain significancers1403072896RCV001125243; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275828112758281GC19:g.12758281G>C-
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys)4125MAN2B1Uncertain significancers142248782RCV000392539; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275829212758292GA19:g.12758292G>AClinGen:CA9225925C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2784A>C (p.Gly928=)4125MAN2B1Likely benign-1RCV001501550; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275829312758293TG12758293-
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)4125MAN2B1Conflicting interpretations of pathogenicityrs754733253RCV000358688|RCV000415194; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275829512758295CG19:g.12758295C>GClinGen:CA9225926C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2782G>A (p.Gly928Arg)4125MAN2B1Likely benign-1RCV001403774; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275829512758295CT12758295-
NM_000528.4(MAN2B1):c.2769A>G (p.Val923=)4125MAN2B1Likely benign-1RCV002091375; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275830812758308TC12758308-
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile)4125MAN2B1Uncertain significancers755553683RCV000798086; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275831012758310CT19:g.12758310C>T-
NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu)4125MAN2B1Uncertain significancers755553683RCV001340999; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275831012758310CA12758310-
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=)4125MAN2B1Likely benignrs150866794RCV000675473|RCV001087337; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275831112758311GANC_000019.9:g.12758311G>A-CN517202 not provided;
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)4125MAN2B1Likely pathogenicrs2023718817RCV001263958; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275832512758325CA19:g.12758325C>A-
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs)4125MAN2B1Pathogenic-1RCV001387084; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275832612758329CCAAGC12758325-
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=)4125MAN2B1Likely benignrs1184081650RCV000932946|RCV001272184; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275832912758329GA19:g.12758329G>A-
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)4125MAN2B1Conflicting interpretations of pathogenicityrs758765126RCV000206938; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275833012758330CTNC_000019.9:g.12758330C>TClinGen:CA350936,UniProtKB:O00754#VAR_068066C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys)4125MAN2B1Uncertain significancers864621990RCV000207014; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275833112758331GA19:g.12758331G>AClinGen:CA351025,UniProtKB:O00754#VAR_068065C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)4125MAN2B1Conflicting interpretations of pathogenicityrs1555706137RCV000658011|RCV001194449|RCV001775945; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275833312758333AG19:g.12758333A>G-CN517202 not provided;
NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met)4125MAN2B1Uncertain significance-1RCV001953095; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275834012758340CT12758340-
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)4125MAN2B1Uncertain significancers139366493RCV001125244|RCV001358618; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191275834612758346CT19:g.12758346C>T-
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)4125MAN2B1Likely pathogenicrs139366493RCV001263959; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275834612758346CA19:g.12758346C>A-
NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp)4125MAN2B1Uncertain significance-1RCV001977598; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275835112758351CT12758351-
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)4125MAN2B1Likely pathogenicrs368224056RCV001263960; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275835412758354CT19:g.12758354C>T-
NM_000528.4(MAN2B1):c.2437-300_2719del4125MAN2B1Likely pathogenic-1RCV001041850; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275835812759516CTGGCCAGCGTGAGCAGGTGCACCGAGGGCGGCAGGTCCCTGCGCAGCCCTGAGAACTGCGGGAGAGAGGGCGGGGCTGAGTTGGAGAGGGGCGGGGCCTGGATGGAGAAC19:g.12758358_12758456del-
NM_000528.4(MAN2B1):c.2718C>T (p.Ala906=)4125MAN2B1Likely benign-1RCV002200113; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275835912758359GA12758359-
NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=)4125MAN2B1Likely benign-1RCV002155378; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275836512758365CG12758365-
NM_000528.4(MAN2B1):c.2712G>A (p.Thr904=)4125MAN2B1Likely benign-1RCV002212339; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275836512758365CT12758365-
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val)4125MAN2B1Uncertain significance-1RCV001891394; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275837312758373GC12758373-
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)4125MAN2B1Uncertain significancers200033151RCV000313868; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275837612758376GT19:g.12758376G>TClinGen:CA9225942C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2700G>T (p.Val900=)4125MAN2B1Likely benign-1RCV002145695; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275837712758377CA12758377-
NM_000528.4(MAN2B1):c.2697G>C (p.Ser899=)4125MAN2B1Likely benign-1RCV002162422; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275838012758380CG12758380-
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)4125MAN2B1Pathogenic/Likely pathogenicrs767323371RCV000411220; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275838112758381GTNC_000019.9:g.12758381G>TClinGen:CA9225943C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=)4125MAN2B1Likely benign-1RCV001486369; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275838312758383GA12758383-
NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=)4125MAN2B1Likely benign-1RCV001428241; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275838612758386CT12758386-
NM_000528.4(MAN2B1):c.2686C>T (p.Leu896=)4125MAN2B1Likely benign-1RCV001465600; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275839112758391GA12758391-
NM_000528.4(MAN2B1):c.2685C>T (p.Asp895=)4125MAN2B1Likely benign-1RCV002120153; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275839212758392GA12758392-
NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=)4125MAN2B1Likely benign-1RCV001495048; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275839812758398GT12758398-
NM_000528.4(MAN2B1):c.2676G>A (p.Leu892=)4125MAN2B1Likely benign-1RCV001461409; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275840112758401CT12758401-
NM_000528.4(MAN2B1):c.2675T>C (p.Leu892Pro)4125MAN2B1Uncertain significancers864621989RCV000206961; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275840212758402AG19:g.12758402A>GClinGen:CA350960,UniProtKB:O00754#VAR_068064C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2671G>A (p.Gly891Arg)4125MAN2B1Uncertain significancers864621988RCV000206929; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275840612758406CT19:g.12758406C>TClinGen:CA350926,UniProtKB:O00754#VAR_068063C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs)4125MAN2B1Pathogenicrs1599338484RCV001003077; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275840612758407CCTC19:g.12758406_12758407del-
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)4125MAN2B1Benignrs199606152RCV000942597|RCV001702750; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191275840712758407TC19:g.12758407T>C-
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)4125MAN2B1Pathogenicrs1406466561RCV000668093; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275840812758408GC19:g.12758408G>C-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2665-1G>C4125MAN2B1Likely pathogenicrs1555706185RCV000671698; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275841312758413CG19:g.12758413C>G-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2665-4G>A4125MAN2B1Likely benignrs1461826298RCV000944557; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275841612758416CT19:g.12758416C>T-
NM_000528.4(MAN2B1):c.2665-5C>T4125MAN2B1Likely benign-1RCV001494889; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275841712758417GA12758417-
NM_000528.4(MAN2B1):c.2665-165G>C4125MAN2B1Benign-1RCV001527139; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275857712758577CG12758577-
NM_000528.4(MAN2B1):c.2664+16G>A4125MAN2B1Likely benign-1RCV002119586; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275897312758973CT12758973-
NM_000528.4(MAN2B1):c.2664+1G>A4125MAN2B1Likely pathogenicrs771953225RCV000411824; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275898812758988CTNC_000019.9:g.12758988C>TClinGen:CA9225967C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)4125MAN2B1Conflicting interpretations of pathogenicityrs775212002RCV001126213; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275899212758992CT19:g.12758992C>T-
NM_000528.4(MAN2B1):c.2659A>G (p.Thr887Ala)4125MAN2B1Uncertain significance-1RCV001937501; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275899412758994TC12758994-
NM_000528.4(MAN2B1):c.2658C>G (p.Arg886=)4125MAN2B1Likely benignrs556554403RCV000942998; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275899512758995GC19:g.12758995G>C-
NM_000528.4(MAN2B1):c.2655G>A (p.Pro885=)4125MAN2B1Likely benign-1RCV001392796; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275899812758998CT12758998-
NM_000528.4(MAN2B1):c.2647del (p.Ala883fs)4125MAN2B1Pathogenic-1RCV001893850; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275900612759006GCG12759005-
NM_000528.4(MAN2B1):c.2643C>T (p.Leu881=)4125MAN2B1Likely benign-1RCV001398557; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275901012759010GA12759010-
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=)4125MAN2B1Likely benignrs763786776RCV000913678; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275901312759013AG19:g.12759013A>G-
NM_000528.4(MAN2B1):c.2640T>A (p.Asn880Lys)4125MAN2B1Uncertain significance-1RCV002012066; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275901312759013AT12759013-
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser)4125MAN2B1Uncertain significancers1466468362RCV001053094; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275901412759014TC19:g.12759014T>C-
NM_000528.4(MAN2B1):c.2637C>T (p.Tyr879=)4125MAN2B1Likely benign-1RCV002086429; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275901612759016GA12759016-
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)4125MAN2B1Conflicting interpretations of pathogenicityrs368834616RCV000352799; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275902812759028GA19:g.12759028G>AClinGen:CA9225971C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)4125MAN2B1Likely benignrs545541738RCV001278023; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275903112759031AG19:g.12759031A>G-
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)4125MAN2B1Uncertain significancers372896479RCV000404945; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275903412759034CT19:g.12759034C>TClinGen:CA9225973C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2619G>C (p.Pro873=)4125MAN2B1Likely benign-1RCV001503928; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275903412759034CG12759034-
NM_000528.4(MAN2B1):c.2618C>A (p.Pro873Gln)4125MAN2B1Uncertain significance-1RCV001991257; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275903512759035GT12759035-
NM_000528.4(MAN2B1):c.2616C>T (p.Ala872=)4125MAN2B1Likely benign-1RCV002144823; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275903712759037GA12759037-
NM_000528.4(MAN2B1):c.2607G>T (p.Val869=)4125MAN2B1Likely benign-1RCV002097407; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275904612759046CA12759046-
NM_000528.4(MAN2B1):c.2592C>T (p.Val864=)4125MAN2B1Likely benign-1RCV001496029; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275906112759061GA12759061-
NM_000528.4(MAN2B1):c.2583G>A (p.Glu861=)4125MAN2B1Likely benign-1RCV001404427; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275907012759070CT12759070-
NM_000528.4(MAN2B1):c.2580G>C (p.Ala860=)4125MAN2B1Likely benign-1RCV001415942; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275907312759073CG12759073-
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs)4125MAN2B1Pathogenicrs2023745479RCV001215794; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275907812759094AGGAGCCGGTGTCCGGCGA19:g.12759078_12759094del-
NM_000528.4(MAN2B1):c.2571G>T (p.Arg857=)4125MAN2B1Likely benign-1RCV001404478; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275908212759082CA12759082-
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)4125MAN2B1Benignrs10410289RCV000308550|RCV000675474|RCV001729540; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202|MedGen:CN169374191275909112759091GC19:g.12759091G>CClinGen:CA9225984C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2562C>T (p.Ala854=)4125MAN2B1Likely benign-1RCV001437258; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275909112759091GA12759091-
NM_000528.4(MAN2B1):c.2561C>T (p.Ala854Val)4125MAN2B1Uncertain significance-1RCV001881871; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275909212759092GA12759092-
NM_000528.4(MAN2B1):c.2559C>G (p.Ala853=)4125MAN2B1Likely benign-1RCV001402115; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275909412759094GC12759094-
NM_000528.4(MAN2B1):c.2559C>T (p.Ala853=)4125MAN2B1Likely benign-1RCV001500718; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275909412759094GA12759094-
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val)4125MAN2B1Uncertain significancers886054229RCV000365477; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275909512759095GA19:g.12759095G>AClinGen:CA10648308C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)4125MAN2B1Pathogenic-1RCV001382124; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275909512759119GGCTGCAGCCTGGGCTGTGTCCAGCAG12759094-
NM_000528.4(MAN2B1):c.2547C>G (p.Ala849=)4125MAN2B1Likely benign-1RCV001460842; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275910612759106GC12759106-
NM_000528.4(MAN2B1):c.2541C>T (p.Asp847=)4125MAN2B1Likely benign-1RCV002143382; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275911212759112GA12759112-
NM_000528.4(MAN2B1):c.2535G>A (p.Leu845=)4125MAN2B1Likely benign-1RCV001409236; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275911812759118CT12759118-
NM_000528.4(MAN2B1):c.2533C>T (p.Leu845=)4125MAN2B1Likely benign-1RCV002144626; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275912012759120GA12759120-
NM_000528.4(MAN2B1):c.2529G>A (p.Leu843=)4125MAN2B1Likely benign-1RCV001475848; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275912412759124CT12759124-
NM_000528.4(MAN2B1):c.2526C>T (p.His842=)4125MAN2B1Likely benign-1RCV002126867; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275912712759127GA12759127-
NM_000528.4(MAN2B1):c.2518G>C (p.Gly840Arg)4125MAN2B1Uncertain significance-1RCV001979983; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275913512759135CG12759135-
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln)4125MAN2B1Uncertain significancers2023749207RCV001061603; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275913712759137CT19:g.12759137C>T-
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter)4125MAN2B1Likely pathogenicrs1291147781RCV001506971; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275913812759138GA12759138-
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs)4125MAN2B1Pathogenic-1RCV001940518; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275914012759141AACCCGCGCC12759140-
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg)4125MAN2B1Uncertain significancers760097655RCV001308112; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275914412759144AG12759144-
NM_000528.4(MAN2B1):c.2508G>A (p.Ala836=)4125MAN2B1Likely benign-1RCV002176286; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275914512759145CT12759145-
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro)4125MAN2B1Uncertain significancers140281123RCV001241468; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275914712759147CG19:g.12759147C>G-
NM_000528.4(MAN2B1):c.2505G>A (p.Gly835=)4125MAN2B1Likely benign-1RCV002092180; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275914812759148CT12759148-
NM_000528.4(MAN2B1):c.2502G>A (p.Ser834=)4125MAN2B1Likely benign-1RCV001483522; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275915112759151CT12759151-
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)4125MAN2B1Uncertain significancers199967717RCV001126214; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275915212759152GA19:g.12759152G>A-
NM_000528.4(MAN2B1):c.2499G>A (p.Gly833=)4125MAN2B1Likely benign-1RCV001460042; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275915412759154CT12759154-
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg)4125MAN2B1Uncertain significancers144244650RCV001343516; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275915612759156CG12759156-
NM_000528.4(MAN2B1):c.2493G>A (p.Glu831=)4125MAN2B1Likely benign-1RCV002212082; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275916012759160CT12759160-
NM_000528.4(MAN2B1):c.2489T>C (p.Met830Thr)4125MAN2B1Uncertain significance-1RCV001901295; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275916412759164AG12759164-
NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Leu829_Met830insLysPro)4125MAN2B1Uncertain significancers1555706406RCV000666557; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275916812759169GGTGGCTT19:g.12759168_12759169insTGGCTT-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=)4125MAN2B1Likely benign-1RCV001473820; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275916812759168GA12759168-
NM_000528.4(MAN2B1):c.2478G>A (p.Ser826=)4125MAN2B1Likely benign-1RCV001403067; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275917512759175CT12759175-
NM_000528.4(MAN2B1):c.2469_2478del (p.Gly824fs)4125MAN2B1Pathogenic-1RCV001960467; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275917512759184CCGATACTCCGC12759174-
NM_000528.4(MAN2B1):c.2472A>T (p.Gly824=)4125MAN2B1Likely benign-1RCV001427668; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275918112759181TA12759181-
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)4125MAN2B1Conflicting interpretations of pathogenicityrs561895292RCV001126215; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275918412759184GA19:g.12759184G>A-
NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys)4125MAN2B1Uncertain significancers746805353RCV001329967; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275918612759186GA12759186-
NM_000528.4(MAN2B1):c.2449C>T (p.Leu817=)4125MAN2B1Likely benign-1RCV002149211; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275920412759204GA12759204-
NM_000528.4(MAN2B1):c.2437-2A>G4125MAN2B1Pathogenicrs1445197546RCV000824138; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275921812759218TC19:g.12759218T>C-
NM_000528.4(MAN2B1):c.2437-4C>G4125MAN2B1Likely benignrs772778684RCV000930559; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275922012759220GC19:g.12759220G>C-
NM_000528.4(MAN2B1):c.2437-5C>G4125MAN2B1Conflicting interpretations of pathogenicityrs200695002RCV000939012; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275922112759221GC19:g.12759221G>C-
NM_000528.4(MAN2B1):c.2437-5C>A4125MAN2B1Likely benignrs200695002RCV000975602|RCV001502833; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275922112759221GT19:g.12759221G>T-
NM_000528.4(MAN2B1):c.2437-5C>T4125MAN2B1Likely benign-1RCV002189611; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275922112759221GA12759221-
NM_000528.4(MAN2B1):c.2437-6C>T4125MAN2B1Likely benign-1RCV001440219; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275922212759222GA12759222-
NM_000528.4(MAN2B1):c.2437-8C>A4125MAN2B1Likely benignrs1599339769RCV000981419; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275922412759224GT19:g.12759224G>T-
NM_000528.4(MAN2B1):c.2437-8C>T4125MAN2B1Likely benign-1RCV002155299; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275922412759224GA12759224-
NM_000528.4(MAN2B1):c.2437-10C>T4125MAN2B1Likely benign-1RCV001461086; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275922612759226GA12759226-
NM_000528.4(MAN2B1):c.2437-19C>T4125MAN2B1Likely benign-1RCV002218839; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275923512759235GA12759235-
NM_000528.4(MAN2B1):c.2436+17C>T4125MAN2B1Benignrs148420017RCV000675475|RCV001516045; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275993312759933GANC_000019.9:g.12759933G>A-CN517202 not provided;
NM_000528.4(MAN2B1):c.2436+8G>T4125MAN2B1Likely benign-1RCV001424601; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275994212759942CA12759942-
NM_000528.4(MAN2B1):c.2436+8G>C4125MAN2B1Likely benign-1RCV001442746; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275994212759942CG12759942-
NM_000528.4(MAN2B1):c.2436+7G>C4125MAN2B1Likely benign-1RCV001500277; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275994312759943CG12759943-
NM_000528.4(MAN2B1):c.2436+2T>C4125MAN2B1Pathogenic/Likely pathogenicrs398123457RCV000079077|RCV000410282; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275994812759948AG19:g.12759948A>GClinGen:CA221084C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2436+1G>A4125MAN2B1Likely pathogenicrs200036864RCV000672697; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275994912759949CT19:g.12759949C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe)4125MAN2B1Uncertain significancers367852398RCV001243581; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275995512759955GA19:g.12759955G>A-
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)4125MAN2B1Pathogenic/Likely pathogenicrs80338681RCV000020367; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275996012759960AG19:g.12759960A>GClinGen:CA341737,UniProtKB:O00754#VAR_003348,OMIM:609458.0007C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2424G>C (p.Ser808=)4125MAN2B1Likely benign-1RCV001441013; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275996212759962CG12759962-
NM_000528.4(MAN2B1):c.2424G>A (p.Ser808=)4125MAN2B1Likely benign-1RCV002103958; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275996212759962CT12759962-
NM_000528.4(MAN2B1):c.2421C>G (p.Gly807=)4125MAN2B1Likely benign-1RCV002076563; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275996512759965GC12759965-
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)4125MAN2B1Pathogenic-1RCV001386792; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275996912759972ATCTCA12759968-
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=)4125MAN2B1Benignrs147850230RCV000904089; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275997712759977GA19:g.12759977G>A-
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly)4125MAN2B1Likely benignrs141391488RCV000902907; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275998212759982TC19:g.12759982T>C-
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)4125MAN2B1Pathogenic/Likely pathogenicrs797044680RCV000176041|RCV000790702; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191275998312759984GGCNC_000019.9:g.12759989dupClinGen:CA275096C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)4125MAN2B1Uncertain significancers864621994RCV000206924; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275998412759984CTNC_000019.9:g.12759984C>TClinGen:CA350919,UniProtKB:O00754#VAR_026414C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)4125MAN2B1Uncertain significancers142702682RCV000660542; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275998512759985CA19:g.12759985C>A-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg)4125MAN2B1Pathogenic/Likely pathogenicrs398123456RCV000079076|RCV001775569; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275998812759988CT19:g.12759988C>TClinGen:CA221083,UniProtKB:O00754#VAR_068060CN517202 not provided;
NM_000528.4(MAN2B1):c.2398G>T (p.Gly800Trp)4125MAN2B1Uncertain significancers398123456RCV000207017; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275998812759988CA19:g.12759988C>AClinGen:CA351030,UniProtKB:O00754#VAR_068061C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)4125MAN2B1Likely pathogenicrs398123456RCV000206964; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275998812759988CGNC_000019.9:g.12759988C>GClinGen:CA350963,UniProtKB:O00754#VAR_068060C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2390G>T (p.Arg797Leu)4125MAN2B1Uncertain significance-1RCV002005261; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275999612759996CA12759996-
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)4125MAN2B1Uncertain significancers772742355RCV001128270; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275999712759997GA19:g.12759997G>A-
NM_000528.4(MAN2B1):c.2388C>T (p.Asp796=)4125MAN2B1Likely benign-1RCV001481625; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191275999812759998GA12759998-
NM_000528.4(MAN2B1):c.2356-2A>G4125MAN2B1Pathogenic/Likely pathogenicrs1064793936RCV000478158|RCV001251160; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276003212760032TC19:g.12760032T>CClinGen:CA16620767CN517202 not provided;
NM_000528.4(MAN2B1):c.2356-4C>A4125MAN2B1Likely benign-1RCV001505589; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276003412760034GT12760034-
NM_000528.4(MAN2B1):c.2355+33C>T4125MAN2B1Likely benignrs374660827RCV000673167; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276012212760122GA19:g.12760122G>A-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2355+12C>T4125MAN2B1Likely benign-1RCV002206726; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276014312760143GA12760143-
NM_000528.4(MAN2B1):c.2355+9C>G4125MAN2B1Likely benign-1RCV002218223; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276014612760146GC12760146-
NM_000528.4(MAN2B1):c.2355+6T>A4125MAN2B1Uncertain significancers1052970162RCV000803558; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276014912760149AT19:g.12760149A>T-
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)4125MAN2B1Pathogenic/Likely pathogenicrs1008745697RCV000669668; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276015512760155CT19:g.12760155C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2349C>T (p.Tyr783=)4125MAN2B1Likely benign-1RCV001455692; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276016112760161GA12760161-
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)4125MAN2B1Uncertain significancers201600797RCV001128271; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276016912760169GA19:g.12760169G>A-
NM_000528.4(MAN2B1):c.2329C>T (p.Pro777Ser)4125MAN2B1Uncertain significancers1599340883RCV000996765|RCV001578668; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276018112760181GA19:g.12760181G>A-
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=)4125MAN2B1Benignrs35880640RCV000273083|RCV000675476; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276020012760200GA19:g.12760200G>AClinGen:CA9226082C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2304G>A (p.Thr768=)4125MAN2B1Likely benign-1RCV001407548; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276020612760206CT12760206-
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)4125MAN2B1Pathogenic/Likely pathogenicrs779769525RCV000666122; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276021112760211GA19:g.12760211G>A-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)4125MAN2B1Conflicting interpretations of pathogenicity-1RCV001461907; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276021212760212GA12760212-
NM_000528.4(MAN2B1):c.2286C>G (p.Thr762=)4125MAN2B1Likely benign-1RCV002165998; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276022412760224GC12760224-
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=)4125MAN2B1Benign/Likely benignrs138358081RCV000973591; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276022712760227GA19:g.12760227G>A-
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)4125MAN2B1Pathogenic/Likely pathogenicrs121434331RCV000001753; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276023212760232GA19:g.12760232G>AClinGen:CA251911,OMIM:609458.0002C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2278C>G (p.Arg760Gly)4125MAN2B1Uncertain significance-1RCV001947982; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276023212760232GC12760232-
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs)4125MAN2B1Pathogenicrs2023782686RCV001062875; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276023812760238TCT19:g.12760238_12760238del-
NM_000528.4(MAN2B1):c.2271G>T (p.Arg757=)4125MAN2B1Likely benign-1RCV002086123; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276023912760239CA12760239-
NM_000528.4(MAN2B1):c.2270G>A (p.Arg757Gln)4125MAN2B1Uncertain significance-1RCV002034221; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276024012760240CT12760240-
NM_000528.4(MAN2B1):c.2268-1G>C4125MAN2B1Likely pathogenicrs1555706596RCV000672429; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276024312760243CG19:g.12760243C>G-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2268-2A>T4125MAN2B1Likely pathogenic-1RCV001377753; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276024412760244TA12760244-
NM_000528.4(MAN2B1):c.2268-4_2268-3dup4125MAN2B1Likely benign-1RCV002170832; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276024412760245TTGG12760244-
NM_000528.4(MAN2B1):c.2268-7A>T4125MAN2B1Likely benign-1RCV002123710; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276024912760249TA12760249-
NM_000528.4(MAN2B1):c.2268-8A>C4125MAN2B1Likely benign-1RCV002144124; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276025012760250TG12760250-
NM_000528.4(MAN2B1):c.2268-10C>T4125MAN2B1Likely benign-1RCV002158887; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276025212760252GA12760252-
NM_000528.4(MAN2B1):c.2268-11C>T4125MAN2B1Conflicting interpretations of pathogenicityrs537217370RCV001128272; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276025312760253GA19:g.12760253G>A-
NM_000528.4(MAN2B1):c.2267+63A>G4125MAN2B1Benignrs3815914RCV000844595|RCV001527140; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276066412760664TC19:g.12760664T>C-
NC_000019.9:g.(?_12760717)_(12761046_?)del4125MAN2B1Pathogenic-1RCV001380357; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276071712761046nana-1-
NM_000528.4(MAN2B1):c.2267+8dup4125MAN2B1Conflicting interpretations of pathogenicityrs572289342RCV000302464|RCV000333615|RCV000514960; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN169374|MedGen:CN517202191276071812760719AAC19:g.12760718_12760719insCClinGen:CA9226141C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2267+9T>C4125MAN2B1Likely benign-1RCV001407926; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276071812760718AG12760718-
NM_000528.4(MAN2B1):c.2267+8G>T4125MAN2B1Likely benignrs1599341786RCV000932160|RCV001431492; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276071912760719CA19:g.12760719C>A-
NM_000528.4(MAN2B1):c.2267+3G>C4125MAN2B1Benignrs28639634RCV000359596|RCV000675477; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276072412760724CG19:g.12760724C>GClinGen:CA9226143C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2267+1G>A4125MAN2B1Likely pathogenic-1RCV001977875; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276072612760726CT12760726-
NM_000528.4(MAN2B1):c.2265G>A (p.Arg755=)4125MAN2B1Likely benign-1RCV002117142; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276072912760729CT12760729-
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)4125MAN2B1Conflicting interpretations of pathogenicityrs141212446RCV000267336|RCV000675478; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276073412760734CT19:g.12760734C>TClinGen:CA9226146C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2253G>A (p.Glu751=)4125MAN2B1Likely benign-1RCV001470272; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276074112760741CT12760741-
NM_000528.4(MAN2B1):c.2250G>A (p.Arg750=)4125MAN2B1Likely benign-1RCV001459092; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276074412760744CT12760744-
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)4125MAN2B1Conflicting interpretations of pathogenicityrs373240866RCV000714791; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276074512760745CTNC_000019.9:g.12760745C>T-
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)4125MAN2B1Pathogenicrs80338680RCV000001755|RCV000622985|RCV001091771; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MeSH:D030342,MedGen:C0950123|MedGen:CN517202191276074612760746GA19:g.12760746G>AClinGen:CA339901,UniProtKB:O00754#VAR_003347,OMIM:609458.0004C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2248C>A (p.Arg750=)4125MAN2B1Likely benign-1RCV001484992; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276074612760746GT12760746-
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)4125MAN2B1Likely pathogenic-1RCV001999253; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276074612760746GC12760746-
NM_000528.4(MAN2B1):c.2247C>T (p.Gly749=)4125MAN2B1Likely benign-1RCV001443399; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276074712760747GA12760747-
NM_000528.4(MAN2B1):c.2234C>G (p.Thr745Arg)4125MAN2B1Uncertain significancers864621987RCV000206917; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276076012760760GC19:g.12760760G>CClinGen:CA350911,UniProtKB:O00754#VAR_068059C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2226C>T (p.Arg742=)4125MAN2B1Likely benign-1RCV001421169; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276076812760768GA12760768-
NM_000528.4(MAN2B1):c.2225G>A (p.Arg742His)4125MAN2B1Uncertain significance-1RCV002010361; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276076912760769CT12760769-
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)4125MAN2B1Benignrs61234887RCV000224942|RCV000323890|RCV001252563; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:00021191276077312760773CT19:g.12760773C>TClinGen:CA9226157C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2220G>A (p.Lys740=)4125MAN2B1Likely benignrs1599341929RCV000941035|RCV001427036; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276077412760774CT19:g.12760774C>T-
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)4125MAN2B1Pathogenicrs1555706706RCV000623866|RCV001775927; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276078212760782TCTNC_000019.9:g.12760783delClinGen:CA658799153C0950123 Inborn genetic diseases;
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=)4125MAN2B1Likely benign-1RCV001433269; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276078612760786CT12760786-
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)4125MAN2B1Uncertain significancers199700264RCV001242275; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276080012760800GA19:g.12760800G>A-
NM_000528.4(MAN2B1):c.2193C>T (p.Ser731=)4125MAN2B1Likely benign-1RCV001402175; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276080112760801GA12760801-
NM_000528.4(MAN2B1):c.2178G>A (p.Gly726=)4125MAN2B1Likely benign-1RCV002217762; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276081612760816CT12760816-
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)4125MAN2B1Pathogenic-1RCV001383468; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276081912760819CT12760819-
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)4125MAN2B1Likely pathogenicrs2023804275RCV001263961; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276082012760820CT19:g.12760820C>T-
NM_000528.4(MAN2B1):c.2169C>T (p.Asp723=)4125MAN2B1Likely benign-1RCV001444209; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276082512760825GA12760825-
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)4125MAN2B1Uncertain significancers749183690RCV001122557; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276082712760827CT19:g.12760827C>T-
NM_000528.4(MAN2B1):c.2166C>T (p.Gly722=)4125MAN2B1Uncertain significance-1RCV001987654; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276082812760828GA12760828-
NM_000528.4(MAN2B1):c.2166-10_2166-2del4125MAN2B1Uncertain significancers1555706734RCV000668357; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276083012760838CTGTACCCAAC19:g.12760830_12760838del-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2166-2A>G4125MAN2B1Likely pathogenic-1RCV001980393; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276083012760830TC12760830-
NM_000528.4(MAN2B1):c.2166-8G>A4125MAN2B1Uncertain significance-1RCV001890581; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276083612760836CT12760836-
NM_000528.4(MAN2B1):c.2166-10T>C4125MAN2B1Likely benign-1RCV002131273; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276083812760838AG12760838-
NM_000528.4(MAN2B1):c.2166-12C>G4125MAN2B1Likely benign-1RCV002196343; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276084012760840GC12760840-
NM_000528.4(MAN2B1):c.2166-18C>T4125MAN2B1Likely benign-1RCV002109817; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276084612760846GA12760846-
NM_000528.4(MAN2B1):c.2165+8G>A4125MAN2B1Likely benign-1RCV001448881; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276091012760910CT12760910-
NM_000528.4(MAN2B1):c.2165+1G>A4125MAN2B1Pathogenicrs80338679RCV000020366; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276091712760917CT19:g.12760917C>TClinGen:CA341736C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2165+1del4125MAN2B1Likely pathogenicrs1555706752RCV000669911; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276091712760917ACA19:g.12760917_12760917del-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2160T>A (p.Pro720=)4125MAN2B1Likely benign-1RCV002093910; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276092312760923AT12760923-
NM_000528.4(MAN2B1):c.2154G>C (p.Pro718=)4125MAN2B1Likely benign-1RCV001457602; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276092912760929CG12760929-
NM_000528.4(MAN2B1):c.2151G>A (p.Gly717=)4125MAN2B1Likely benign-1RCV002134707; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276093212760932CT12760932-
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=)4125MAN2B1Uncertain significancers776158673RCV001122558; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276093812760938CT19:g.12760938C>T-
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)4125MAN2B1Likely pathogenicrs864621993RCV000206950; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276094312760943AG19:g.12760943A>GClinGen:CA350952,UniProtKB:O00754#VAR_003346C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs)4125MAN2B1Likely pathogenicrs1555706774RCV000669418; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276096912760969TGT19:g.12760969_12760969del-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2112C>T (p.Tyr704=)4125MAN2B1Likely benign-1RCV001492510; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276097112760971GA12760971-
NM_000528.4(MAN2B1):c.2109G>A (p.Leu703=)4125MAN2B1Likely benign-1RCV002137697; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276097412760974CT12760974-
NM_000528.4(MAN2B1):c.2107C>T (p.Leu703=)4125MAN2B1Likely benign-1RCV001463631; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276097612760976GA12760976-
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)4125MAN2B1Uncertain significancers988974694RCV001122559; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276097912760979GA19:g.12760979G>A-
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile)4125MAN2B1Uncertain significancers561720564RCV000697384; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276098212760982CTNC_000019.9:g.12760982C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)4125MAN2B1Likely pathogenicrs2023809176RCV001264121; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276099212760992AT19:g.12760992A>T-
NM_000528.4(MAN2B1):c.2085T>C (p.Ala695=)4125MAN2B1Likely benign-1RCV002159081; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276099812760998AG12760998-
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)4125MAN2B1Likely pathogenicrs2023809731RCV001264122; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276101212761012GA19:g.12761012G>A-
NM_000528.4(MAN2B1):c.2065G>A (p.Val689Met)4125MAN2B1Uncertain significance-1RCV002045053; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276101812761018CT12761018-
NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser)4125MAN2B1Uncertain significance-1RCV001954855; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276102912761029AG12761029-
NM_000528.4(MAN2B1):c.2052C>T (p.Pro684=)4125MAN2B1Likely benign-1RCV001433412; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276103112761031GA12761031-
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr)4125MAN2B1Uncertain significancers2023810273RCV001278024; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276103312761033GT19:g.12761033G>T-
NM_000528.4(MAN2B1):c.2047-1G>A4125MAN2B1Likely pathogenicrs1057517166RCV000410754; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276103712761037CT19:g.12761037C>TClinGen:CA16041946C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2047-4G>A4125MAN2B1Likely benignrs768347546RCV000923991; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276104012761040CT19:g.12761040C>T-
NM_000528.4(MAN2B1):c.2047-5C>T4125MAN2B1Conflicting interpretations of pathogenicityrs200424566RCV000371511; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276104112761041GA19:g.12761041G>AClinGen:CA9226211C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2047-12G>A4125MAN2B1Likely benign-1RCV002135895; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276104812761048CT12761048-
NM_000528.4(MAN2B1):c.2047-13C>T4125MAN2B1Likely benign-1RCV002011770; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276104912761049GA12761049-
NM_000528.4(MAN2B1):c.2046+16T>G4125MAN2B1Likely benign-1RCV002100704; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276295112762951AC12762951-
NC_000019.9:g.(?_12762957)_(12772200_?)del4125MAN2B1Pathogenic-1RCV001380358; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276295712772200nana-1-
NM_000528.4(MAN2B1):c.2046+6G>T4125MAN2B1Uncertain significance-1RCV001360129; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276296112762961CA12762961-
NM_000528.4(MAN2B1):c.2046+2T>A4125MAN2B1Pathogenic/Likely pathogenicrs748712495RCV000669117|RCV001546799; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276296512762965AT19:g.12762965A>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2046+1G>T4125MAN2B1Likely pathogenicrs1555707087RCV000673482; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276296612762966CA19:g.12762966C>A-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2046+1G>A4125MAN2B1Likely pathogenicrs1555707087RCV000674325; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276296612762966CT19:g.12762966C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)4125MAN2B1Likely pathogenicrs2023851530RCV001264123; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276296912762969TA19:g.12762969T>A-
NM_000528.4(MAN2B1):c.2043G>A (p.Val681=)4125MAN2B1Likely benign-1RCV002172395; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276297012762970CT12762970-
NM_000528.4(MAN2B1):c.2040G>A (p.Leu680=)4125MAN2B1Likely benign-1RCV002111842; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276297312762973CT12762973-
NM_000528.4(MAN2B1):c.2034C>A (p.Ile678=)4125MAN2B1Likely benign-1RCV001475623; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276297912762979GT12762979-
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)4125MAN2B1Likely pathogenicrs2023852354RCV001264124; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276298812762988CT19:g.12762988C>T-
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)4125MAN2B1Uncertain significance-1RCV001899995; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276299312762993GA12762993-
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)4125MAN2B1Pathogenicrs999923581RCV001052695; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276300012763000CAC19:g.12763000_12763000del-
NM_000528.4(MAN2B1):c.2008C>T (p.Leu670=)4125MAN2B1Likely benign-1RCV002092563; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276300512763005GA12763005-
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)4125MAN2B1Conflicting interpretations of pathogenicityrs762152042RCV000909948; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276300612763006CT19:g.12763006C>T-
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)4125MAN2B1Benign/Likely benignrs75029862RCV000203001|RCV000224345|RCV000260388; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276300712763007GANC_000019.9:g.12763007G>AClinGen:CA249204,UniProtKB:O00754#VAR_068058C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2004A>G (p.Lys668=)4125MAN2B1Likely benign-1RCV002172673; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276300912763009TC12763009-
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)4125MAN2B1Likely pathogenicrs2023853280RCV001264125; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276301112763011TA19:g.12763011T>A-
NM_000528.4(MAN2B1):c.1994A>T (p.Asn665Ile)4125MAN2B1Uncertain significance-1RCV001939819; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276301912763019TA12763019-
NM_000528.4(MAN2B1):c.1993A>C (p.Asn665His)4125MAN2B1Uncertain significance-1RCV001960206; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276302012763020TG12763020-
NM_000528.4(MAN2B1):c.1992C>T (p.Pro664=)4125MAN2B1Likely benign-1RCV002085230; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276302112763021GA12763021-
NM_000528.4(MAN2B1):c.1980C>T (p.Tyr660=)4125MAN2B1Likely benign-1RCV002082380; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276303312763033GA12763033-
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)4125MAN2B1Pathogenicrs2023854692RCV001055647; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276305012763050GA19:g.12763050G>A-
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly)4125MAN2B1Uncertain significancers191035238RCV001244971; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276305212763052TC19:g.12763052T>C-
NM_000528.4(MAN2B1):c.1960G>T (p.Asp654Tyr)4125MAN2B1Uncertain significance-1RCV001910113; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276305312763053CA12763053-
NM_000528.4(MAN2B1):c.1959T>C (p.Ser653=)4125MAN2B1Likely benign-1RCV001410997; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276305412763054AG12763054-
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)4125MAN2B1Pathogenicrs756680048RCV001038590; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276305912763059CA19:g.12763059C>A-
NM_000528.4(MAN2B1):c.1954G>A (p.Glu652Lys)4125MAN2B1Uncertain significance-1RCV002002112; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276305912763059CT12763059-
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=)4125MAN2B1Likely benign-1RCV001410005; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276306012763060GA12763060-
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys)4125MAN2B1Uncertain significancers1481077295RCV001071631; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276306812763068CA19:g.12763068C>A-
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=)4125MAN2B1Benignrs34853569RCV000317962; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276307812763078GA19:g.12763078G>AClinGen:CA9226257C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del)4125MAN2B1Uncertain significancers1599344435RCV000818869; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276307812763080CGTTC19:g.12763078_12763080del-
NM_000528.4(MAN2B1):c.1932C>T (p.Tyr644=)4125MAN2B1Likely benign-1RCV001500094; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276308112763081GA12763081-
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)4125MAN2B1Pathogenicrs398123455RCV000079075|RCV001390130; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276308412763084CT19:g.12763084C>TClinGen:CA221081CN517202 not provided;
NM_000528.4(MAN2B1):c.1929-1G>T4125MAN2B1Pathogenic/Likely pathogenicrs763100457RCV000623252|RCV000668849; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276308512763085CA19:g.12763085C>AClinGen:CA9226259C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1929-2A>G4125MAN2B1Likely pathogenicrs2023856348RCV001251285; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276308612763086TC19:g.12763086T>C-
NM_000528.4(MAN2B1):c.1929-16C>T4125MAN2B1Likely benign-1RCV002088290; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276310012763100GA12763100-
NM_000528.4(MAN2B1):c.1929-19_1929-18del4125MAN2B1Likely benign-1RCV002176999; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276310212763103TGAT12763101-
NM_000528.4(MAN2B1):c.1928+10G>C4125MAN2B1Conflicting interpretations of pathogenicityrs200579436RCV000277640|RCV001088355; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276316712763167CG19:g.12763167C>GClinGen:CA9226273CN169374 not specified;
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)4125MAN2B1Pathogenicrs1599344532RCV000815618; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276317712763177CT19:g.12763177C>T-
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del)4125MAN2B1Uncertain significancers779241409RCV000674777; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276317812763180CAGAC19:g.12763178_12763180del-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1926C>T (p.Phe642=)4125MAN2B1Likely benign-1RCV001392014; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276317912763179GA12763179-
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)4125MAN2B1Likely pathogenicrs121434332RCV000001754; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276319012763190GA19:g.12763190G>AClinGen:CA251913,OMIM:609458.0003C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)4125MAN2B1Uncertain significancers146725928RCV001125346; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276319212763192CG19:g.12763192C>G-
NM_000528.4(MAN2B1):c.1908T>G (p.Pro636=)4125MAN2B1Likely benign-1RCV001408526; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276319712763197AC12763197-
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)4125MAN2B1Uncertain significancers141276889RCV001239122; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276319912763199GA19:g.12763199G>A-
NM_000528.4(MAN2B1):c.1902G>A (p.Leu634=)4125MAN2B1Likely benign-1RCV001445061; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276320312763203CT12763203-
NM_000528.4(MAN2B1):c.1899C>T (p.Leu633=)4125MAN2B1Likely benign-1RCV002111109; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276320612763206GA12763206-
NM_000528.4(MAN2B1):c.1896A>G (p.Gln632=)4125MAN2B1Uncertain significance-1RCV001960281; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276320912763209TC12763209-
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)4125MAN2B1Uncertain significancers775247526RCV001260326|RCV001830061; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276321212763212CA19:g.12763212C>A-
NM_000528.4(MAN2B1):c.1889A>G (p.Asn630Ser)4125MAN2B1Uncertain significance-1RCV001896576; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276321612763216TC12763216-
NM_000528.4(MAN2B1):c.1875G>A (p.Glu625=)4125MAN2B1Likely benignrs753652903RCV000978194|RCV001459187; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276323012763230CT19:g.12763230C>T-
NM_000528.4(MAN2B1):c.1863G>T (p.Gly621=)4125MAN2B1Uncertain significance-1RCV002004664; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276324212763242CA12763242-
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs)4125MAN2B1Likely pathogenicrs1057516289RCV000410846; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276325412763254GAGNC_000019.9:g.12763254delClinGen:CA16041947C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)4125MAN2B1Conflicting interpretations of pathogenicityrs370382032RCV000884804|RCV001759664; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276325512763255TC19:g.12763255T>C-
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)4125MAN2B1Conflicting interpretations of pathogenicityrs369071579RCV000375097; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276326012763260CT19:g.12763260C>TClinGen:CA9226290C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)4125MAN2B1Conflicting interpretations of pathogenicityrs543222535RCV000521153|RCV001083132; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276326712763267CT19:g.12763267C>TClinGen:CA9226292CN169374 not specified;
NM_000528.4(MAN2B1):c.1833C>T (p.His611=)4125MAN2B1Likely benign-1RCV002164038; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276327212763272GA12763272-
NM_000528.4(MAN2B1):c.1831-2A>G4125MAN2B1Pathogenicrs80338678RCV000020365; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276327612763276TC19:g.12763276T>CClinGen:CA341735C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1831-5C>T4125MAN2B1Likely benign-1RCV001468484; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276327912763279GA12763279-
NM_000528.4(MAN2B1):c.1831-11T>C4125MAN2B1Likely benign-1RCV002191246; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276328512763285AG12763285-
NM_000528.4(MAN2B1):c.1830+10C>T4125MAN2B1Likely benign-1RCV002178240; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276649812766498GA12766498-
NM_000528.4(MAN2B1):c.1830+9C>T4125MAN2B1Likely benign-1RCV002203758; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276649912766499GA12766499-
NM_000528.4(MAN2B1):c.1830+9C>G4125MAN2B1Likely benign-1RCV002153575; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276649912766499GC12766499-
NM_000528.4(MAN2B1):c.1830+7C>T4125MAN2B1Likely benign-1RCV002090080; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276650112766501GA12766501-
NM_000528.4(MAN2B1):c.1830+1G>C4125MAN2B1Pathogenicrs80338677RCV000020364|RCV000622767|RCV001564933; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MeSH:D030342,MedGen:C0950123|MedGen:CN517202191276650712766507CG19:g.12766507C>GClinGen:CA341734,OMIM:609458.0006C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)4125MAN2B1Conflicting interpretations of pathogenicityrs145062583RCV000969160|RCV001696924; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276651612766516CT19:g.12766516C>TClinGen:CA9226318CN169374 not specified;
NM_000528.4(MAN2B1):c.1821C>T (p.Ile607=)4125MAN2B1Likely benign-1RCV002217162; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276651712766517GA12766517-
NM_000528.4(MAN2B1):c.1818C>T (p.Thr606=)4125MAN2B1Likely benign-1RCV001435923; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276652012766520GA12766520-
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)4125MAN2B1Likely pathogenicrs1224319934RCV001264126; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276653512766535CT19:g.12766535C>T-
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter)4125MAN2B1Pathogenic-1RCV001953143; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276653612766536CT12766536-
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs)4125MAN2B1Pathogenic-1RCV001928534; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276653712766537CAC12766536-
NM_000528.4(MAN2B1):c.1792A>C (p.Arg598=)4125MAN2B1Likely benign-1RCV002088270; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276654612766546TG12766546-
NM_000528.4(MAN2B1):c.1788C>A (p.Ile596=)4125MAN2B1Likely benign-1RCV002184940; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276655012766550GT12766550-
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn)4125MAN2B1Uncertain significancers769653813RCV001304549; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276655112766551AT12766551-
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs)4125MAN2B1Likely pathogenicrs1057516459RCV000409995; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276655512766564GGCTGTGGTGCGNC_000019.9:g.12766557_12766566delClinGen:CA16041948
NM_000528.4(MAN2B1):c.1782G>A (p.Gln594=)4125MAN2B1Likely benign-1RCV001490680; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276655612766556CT12766556-
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)4125MAN2B1Likely benignrs146778702RCV000902709; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276655912766559TC19:g.12766559T>C-
NM_000528.4(MAN2B1):c.1774G>A (p.Ala592Thr)4125MAN2B1Uncertain significance-1RCV001905155; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276656412766564CT12766564-
NM_000528.4(MAN2B1):c.1773C>T (p.Arg591=)4125MAN2B1Likely benign-1RCV001491154; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276656512766565GA12766565-
NM_000528.4(MAN2B1):c.1755C>G (p.Arg585=)4125MAN2B1Likely benign-1RCV002157558; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276658312766583GC12766583-
NM_000528.4(MAN2B1):c.1754G>T (p.Arg585Leu)4125MAN2B1Uncertain significance-1RCV001950103; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276658412766584CA12766584-
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys)4125MAN2B1Uncertain significancers764543590RCV001215844; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276658512766585GA19:g.12766585G>A-
NM_000528.4(MAN2B1):c.1748T>A (p.Val583Glu)4125MAN2B1Uncertain significance-1RCV001877473; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276659012766590AT12766590-
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu)4125MAN2B1Benignrs59357922RCV000547512; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276659412766594GC19:g.12766594G>CClinGen:CA9226333C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1741G>A (p.Ala581Thr)4125MAN2B1Uncertain significance-1RCV001982639; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276659712766597CT12766597-
NM_000528.4(MAN2B1):c.1740A>G (p.Val580=)4125MAN2B1Likely benign-1RCV002189696; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276659812766598TC12766598-
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)4125MAN2B1Likely pathogenicrs2023939487RCV001264127; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276660212766602GC19:g.12766602G>C-
NM_000528.4(MAN2B1):c.1730C>G (p.Thr577Ser)4125MAN2B1Uncertain significance-1RCV001889928; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276660812766608GC12766608-
NM_000528.4(MAN2B1):c.1725C>T (p.Phe575=)4125MAN2B1Likely benign-1RCV001447554; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276661312766613GA12766613-
NM_000528.4(MAN2B1):c.1717C>T (p.Leu573=)4125MAN2B1Likely benign-1RCV001392067; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276662112766621GA12766621-
NM_000528.4(MAN2B1):c.1716C>T (p.Ala572=)4125MAN2B1Likely benign-1RCV001418156; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276662212766622GA12766622-
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)4125MAN2B1Uncertain significance-1RCV001921103; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276662412766624CA12766624-
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)4125MAN2B1Conflicting interpretations of pathogenicityrs747081586RCV000889393; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276662512766625GA19:g.12766625G>A-
NM_000528.4(MAN2B1):c.1708C>T (p.Leu570=)4125MAN2B1Likely benign-1RCV001446260; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276663012766630GA12766630-
NM_000528.4(MAN2B1):c.1707A>G (p.Ser569=)4125MAN2B1Likely benign-1RCV001886168; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276663112766631TC12766631-
NM_000528.4(MAN2B1):c.1704C>T (p.Ala568=)4125MAN2B1Likely benign-1RCV001454944; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276663412766634GA12766634-
NM_000528.4(MAN2B1):c.1695G>A (p.Leu565=)4125MAN2B1Likely benign-1RCV002113309; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276664312766643CT12766643-
NM_000528.4(MAN2B1):c.1694T>C (p.Leu565Pro)4125MAN2B1Uncertain significancers864621986RCV000206991; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276664412766644AGNC_000019.9:g.12766644A>GClinGen:CA350998,UniProtKB:O00754#VAR_068057C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)4125MAN2B1Pathogenic/Likely pathogenicrs1057516927RCV000409235; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276665112766651CANC_000019.9:g.12766651C>AClinGen:CA16041949C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1684C>T (p.Pro562Ser)4125MAN2B1Uncertain significance-1RCV001995882; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276665412766654GA12766654-
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=)4125MAN2B1Likely benign-1RCV001470168; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276666112766661CT12766661-
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu)4125MAN2B1Uncertain significancers766513928RCV000292286; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276667012766670GT19:g.12766670G>TClinGen:CA9226355C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter)4125MAN2B1Pathogenicrs376719984RCV001268901|RCV001776167; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276667412766674GC19:g.12766674G>C-
NM_000528.4(MAN2B1):c.1662C>T (p.Ser554=)4125MAN2B1Likely benign-1RCV001401804; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276667612766676GA12766676-
NM_000528.4(MAN2B1):c.1659C>T (p.Pro553=)4125MAN2B1Likely benignrs1376701673RCV000976718; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276667912766679GA19:g.12766679G>A-
NM_000528.4(MAN2B1):c.1652T>C (p.Ile551Thr)4125MAN2B1Uncertain significance-1RCV002008903; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276668612766686AG12766686-
NM_000528.4(MAN2B1):c.1645-1G>A4125MAN2B1Pathogenic/Likely pathogenicrs938576591RCV000677673; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276669412766694CTNC_000019.9:g.12766694C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1645-2A>T4125MAN2B1Likely pathogenicrs891030696RCV000674925; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276669512766695TA19:g.12766695T>A-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1645-3G>A4125MAN2B1Uncertain significancers748206062RCV001278025; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276669612766696CT19:g.12766696C>T-
NM_000528.4(MAN2B1):c.1645-7A>G4125MAN2B1Uncertain significance-1RCV001938674; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276670012766700TC12766700-
NM_000528.4(MAN2B1):c.1645-9T>C4125MAN2B1Likely benign-1RCV002140009; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276670212766702AG12766702-
NM_000528.4(MAN2B1):c.1645-18CCT[2]4125MAN2B1Likely benign-1RCV002218218; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276670312766705AAGGA12766702-
NM_000528.4(MAN2B1):c.1645-14C>T4125MAN2B1Likely benign-1RCV002159574; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276670712766707GA12766707-
NC_000019.10:g.(?_12656561)_(12661386_?)del4125MAN2B1Pathogenic-1RCV000798812; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276737512772200nana-
NM_000528.4(MAN2B1):c.1644+4A>G4125MAN2B1Pathogenicrs1218254964RCV001250248; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276738112767381TC19:g.12767381T>C-
NM_000528.4(MAN2B1):c.1641C>T (p.Ser547=)4125MAN2B1Likely benignrs1295503998RCV000929662; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276738812767388GA19:g.12767388G>A-
NM_000528.4(MAN2B1):c.1622A>G (p.Asn541Ser)4125MAN2B1Uncertain significance-1RCV001937248; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276740712767407TC12767407-
NM_000528.4(MAN2B1):c.1605C>T (p.Phe535=)4125MAN2B1Likely benign-1RCV001433410; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276742412767424GA12767424-
NM_000528.4(MAN2B1):c.1598G>A (p.Gly533Asp)4125MAN2B1Uncertain significance-1RCV002035889; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276743112767431CT12767431-
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp)4125MAN2B1Uncertain significance-1RCV001369517; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276743312767433TG12767433-
NM_000528.4(MAN2B1):c.1593C>T (p.Ser531=)4125MAN2B1Likely benign-1RCV001412349; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276743612767436GA12767436-
NM_000528.4(MAN2B1):c.1590C>T (p.Val530=)4125MAN2B1Likely benign-1RCV001475290; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276743912767439GA12767439-
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)4125MAN2B1Conflicting interpretations of pathogenicityrs771761940RCV000349672|RCV000941382; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276744212767442CA19:g.12767442C>AClinGen:CA9226386C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1586C>T (p.Pro529Leu)4125MAN2B1Uncertain significance-1RCV001993093; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276744312767443GA12767443-
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)4125MAN2B1Likely pathogenicrs748872992RCV000667065; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276744512767446CCA19:g.12767445_12767446insA-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)4125MAN2B1Benign/Likely benignrs149613968RCV000675479|RCV001126314|RCV001700292; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN169374191276744812767448CTNC_000019.9:g.12767448C>T-CN517202 not provided;
NM_000528.4(MAN2B1):c.1578A>T (p.Val526=)4125MAN2B1Likely benignrs768096085RCV000928567|RCV001411814; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276745112767451TA19:g.12767451T>A-
NM_000528.4(MAN2B1):c.1568A>C (p.Asn523Thr)4125MAN2B1Uncertain significancers2023967508RCV001325471; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276746112767461TG12767461-
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)4125MAN2B1Uncertain significancers1211189249RCV001126315; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276746512767465CT19:g.12767465C>T-
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)4125MAN2B1Likely pathogenicrs2023968144RCV001264247; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276748412767484AT19:g.12767484A>T-
NM_000528.4(MAN2B1):c.1541T>C (p.Val514Ala)4125MAN2B1Uncertain significance-1RCV002026656; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276748812767488AG12767488-
NM_000528.4(MAN2B1):c.1540G>A (p.Val514Ile)4125MAN2B1Uncertain significance-1RCV001923980; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276748912767489CT12767489-
NM_000528.4(MAN2B1):c.1539C>A (p.Ile513=)4125MAN2B1Likely benign-1RCV002166507; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276749012767490GT12767490-
NM_000528.4(MAN2B1):c.1534del (p.Val512fs)4125MAN2B1Pathogenicrs2023968643RCV001219507; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276749512767495ACA19:g.12767495_12767495del-
NM_000528.4(MAN2B1):c.1528-1G>T4125MAN2B1Likely pathogenicrs561991886RCV000411831; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276750212767502CANC_000019.9:g.12767502C>AClinGen:CA16041950C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1528-1G>A4125MAN2B1Pathogenic-1RCV001783631; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276750212767502CT12767502-
NM_000528.4(MAN2B1):c.1528-3C>A4125MAN2B1Uncertain significance-1RCV001934708; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276750412767504GT12767504-
NM_000528.4(MAN2B1):c.1528-5C>T4125MAN2B1Likely benign-1RCV001442145; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276750612767506GA12767506-
NM_000528.4(MAN2B1):c.1528-8C>T4125MAN2B1Likely benign-1RCV001497995; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276750912767509GA12767509-
NM_000528.4(MAN2B1):c.1528-10G>A4125MAN2B1Likely benign-1RCV002188536; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276751112767511CT12767511-
NM_000528.4(MAN2B1):c.1528-11del4125MAN2B1Benign-1RCV002173052; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276751212767512CGC12767511-
NM_000528.4(MAN2B1):c.1527+8G>C4125MAN2B1Likely benign-1RCV002136954; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276775512767755CG12767755-
NM_000528.4(MAN2B1):c.1527+7C>T4125MAN2B1Likely benign-1RCV001436545; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276775612767756GA12767756-
NM_000528.4(MAN2B1):c.1527+2T>G4125MAN2B1Pathogenic-1RCV001930464; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276776112767761AC12767761-
NM_000528.4(MAN2B1):c.1527+1G>C4125MAN2B1Likely pathogenicrs1322313985RCV000674992; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276776212767762CG19:g.12767762C>G-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)4125MAN2B1Conflicting interpretations of pathogenicityrs143318498RCV000967161|RCV001702868; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276776912767769CA19:g.12767769C>A-
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs)4125MAN2B1Likely pathogenicrs1599349822RCV001004411; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276777112767774GCCGTG19:g.12767771_12767774del-
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=)4125MAN2B1Likely benignrs754672974RCV000975622; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276777212767772CT19:g.12767772C>T-
NM_000528.4(MAN2B1):c.1517C>A (p.Thr506Lys)4125MAN2B1Uncertain significance-1RCV001932706; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276777312767773GT12767773-
NM_000528.4(MAN2B1):c.1514A>G (p.Gln505Arg)4125MAN2B1Uncertain significance-1RCV001986278; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276777612767776TC12767776-
NM_000528.4(MAN2B1):c.1509C>T (p.Leu503=)4125MAN2B1Likely benign-1RCV001428066; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276778112767781GA12767781-
NM_000528.4(MAN2B1):c.1506G>A (p.Pro502=)4125MAN2B1Likely benign-1RCV002131920; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276778412767784CT12767784-
NM_000528.4(MAN2B1):c.1506G>C (p.Pro502=)4125MAN2B1Likely benign-1RCV002076231; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276778412767784CG12767784-
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)4125MAN2B1Conflicting interpretations of pathogenicityrs886054230RCV000387844; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276778712767787GTNC_000019.9:g.12767787G>TClinGen:CA10642322C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1503C>T (p.Cys501=)4125MAN2B1Likely benign-1RCV001949276; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276778712767787GA12767787-
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)4125MAN2B1Uncertain significancers747721968RCV000206970|RCV001582678; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN169374191276778912767789AT19:g.12767789A>TClinGen:CA350972,UniProtKB:O00754#VAR_068056C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1492A>G (p.Ile498Val)4125MAN2B1Uncertain significance-1RCV002003067; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276779812767798TC12767798-
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)4125MAN2B1Likely pathogenicrs755508725RCV001264248; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276780712767807GA19:g.12767807G>A-
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs)4125MAN2B1Likely pathogenicrs1057517316RCV000410001; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276781812767822GGTGAAGNC_000019.9:g.12767822_12767826delClinGen:CA16041951
NM_000528.4(MAN2B1):c.1468_1469del (p.Phe490fs)4125MAN2B1Pathogenic-1RCV001962079; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276782112767822GAAG12767820-
NM_000528.4(MAN2B1):c.1467C>T (p.His489=)4125MAN2B1Likely benign-1RCV001460304; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276782312767823GA12767823-
NM_000528.4(MAN2B1):c.1464T>C (p.Asp488=)4125MAN2B1Likely benign-1RCV002079549; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276782612767826AG12767826-
NM_000528.4(MAN2B1):c.1454G>C (p.Gly485Ala)4125MAN2B1Uncertain significance-1RCV002023605; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276783612767836CG12767836-
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)4125MAN2B1Uncertain significancers377509266RCV001126316; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276783712767837CT19:g.12767837C>T-
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)4125MAN2B1Likely pathogenicrs2023979174RCV001264249; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276784012767840TA19:g.12767840T>A-
NM_000528.4(MAN2B1):c.1444C>T (p.Arg482Trp)4125MAN2B1Uncertain significance-1RCV001902220; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276784612767846GA12767846-
NM_000528.4(MAN2B1):c.1443G>A (p.Ala481=)4125MAN2B1Likely benign-1RCV001418207; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276784712767847CT12767847-
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)4125MAN2B1Benignrs34544747RCV000079073|RCV000295977|RCV000675480; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276784912767849CA19:g.12767849C>AClinGen:CA146745,UniProtKB:O00754#VAR_049210C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1440G>C (p.Leu480=)4125MAN2B1Likely benign-1RCV002085517; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276785012767850CG12767850-
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)4125MAN2B1Conflicting interpretations of pathogenicityrs139435774RCV000631885|RCV001701139|RCV001529835; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN169374|MedGen:CN517202191276785312767853CA19:g.12767853C>AClinGen:CA9226437C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1437G>A (p.Ala479=)4125MAN2B1Likely benign-1RCV001431583; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276785312767853CT12767853-
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)4125MAN2B1Uncertain significancers767199154RCV000343915; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276785512767855CANC_000019.9:g.12767855C>AClinGen:CA9226440C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1420G>T (p.Val474Phe)4125MAN2B1Uncertain significance-1RCV001887409; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276787012767870CA12767870-
NM_000528.4(MAN2B1):c.1420-1G>A4125MAN2B1Likely pathogenic-1RCV002035767; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276787112767871CT12767871-
NM_000528.4(MAN2B1):c.1420-2A>G4125MAN2B1Likely pathogenic-1RCV002032939; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276787212767872TC12767872-
NM_000528.4(MAN2B1):c.1420-4G>T4125MAN2B1Likely benign-1RCV002115356; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276787412767874CA12767874-
NM_000528.4(MAN2B1):c.1420-19C>A4125MAN2B1Likely benign-1RCV002113088; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276788912767889GT12767889-
NM_000528.4(MAN2B1):c.1419+16C>A4125MAN2B1Benign-1RCV001515336; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276824412768244GT12768244-
NM_000528.4(MAN2B1):c.1419+2_1419+15del4125MAN2B1Likely pathogenic-1RCV001992011; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276824512768258GTCTCGCCCCGCGCAG12768244-
NM_000528.4(MAN2B1):c.1419+12G>A4125MAN2B1Likely benign-1RCV002080339; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276824812768248CT12768248-
NM_000528.4(MAN2B1):c.1419+11C>A4125MAN2B1Likely benign-1RCV002144935; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276824912768249GT12768249-
NM_000528.4(MAN2B1):c.1419+8G>A4125MAN2B1Likely benign-1RCV002207860; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276825212768252CT12768252-
NM_000528.4(MAN2B1):c.1419+7G>C4125MAN2B1Likely benign-1RCV001475579; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276825312768253CG12768253-
NM_000528.4(MAN2B1):c.1419+5G>T4125MAN2B1Uncertain significancers540367946RCV001128365; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276825512768255CA19:g.12768255C>A-
NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys)4125MAN2B1Uncertain significance-1RCV002046076; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276826212768262CT12768262-
NM_000528.4(MAN2B1):c.1410G>C (p.Gly470=)4125MAN2B1Likely benign-1RCV002174899; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276826912768269CG12768269-
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)4125MAN2B1Likely pathogenicrs2023994563RCV001264250; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276827312768273CT19:g.12768273C>T-
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)4125MAN2B1Pathogenicrs1599350640RCV000819042; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276827412768275AAG19:g.12768274_12768275insG-
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)4125MAN2B1Conflicting interpretations of pathogenicityrs774396746RCV000392764; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276828112768281CTNC_000019.9:g.12768281C>TClinGen:CA9226475C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)4125MAN2B1Likely benignrs774396746RCV000919172; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276828112768281CA19:g.12768281C>A-
NM_000528.4(MAN2B1):c.1398G>C (p.Ala466=)4125MAN2B1Likely benign-1RCV001506766; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276828112768281CG12768281-
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)4125MAN2B1Likely pathogenicrs1555708126RCV000666098; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276828912768289GA19:g.12768289G>A-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)4125MAN2B1Pathogenicrs771647137RCV001052217; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276829012768291GGCG19:g.12768290_12768291del-
NM_000528.4(MAN2B1):c.1386G>T (p.Ala462=)4125MAN2B1Likely benign-1RCV002155849; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276829312768293CA12768293-
NM_000528.4(MAN2B1):c.1386G>C (p.Ala462=)4125MAN2B1Likely benign-1RCV002139659; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276829312768293CG12768293-
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)4125MAN2B1Pathogenic/Likely pathogenicrs775200333RCV000169471; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276829612768296GC19:g.12768296G>CClinGen:CA274341C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)4125MAN2B1Pathogenicrs775200333RCV000301281|RCV000723878; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276829612768296GT19:g.12768296G>TClinGen:CA9226480C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)4125MAN2B1Conflicting interpretations of pathogenicityrs775200333RCV000963526; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276829612768296GA19:g.12768296G>A-
NM_000528.4(MAN2B1):c.1371G>A (p.Val457=)4125MAN2B1Likely benign-1RCV002191968; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276830812768308CT12768308-
NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu)4125MAN2B1Uncertain significancers864621985RCV000206913; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276830912768309AT19:g.12768309A>TClinGen:CA350905,UniProtKB:O00754#VAR_068055C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs)4125MAN2B1Pathogenic-1RCV001384507; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276831212768313TTGCTGGCGGGAGGTGCC12768312-
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)4125MAN2B1Likely pathogenicrs2023996617RCV001264251; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276831612768316GA19:g.12768316G>A-
NM_000528.4(MAN2B1):c.1362C>T (p.Arg454=)4125MAN2B1Likely benign-1RCV002176008; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276831712768317GA12768317-
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)4125MAN2B1Uncertain significancers864621984RCV000206989; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276832112768321GANC_000019.9:g.12768321G>AClinGen:CA350995,UniProtKB:O00754#VAR_068054C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1358C>A (p.Ser453Tyr)4125MAN2B1Uncertain significancers864621984RCV000206955; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276832112768321GT19:g.12768321G>TClinGen:CA350955,UniProtKB:O00754#VAR_026413C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=)4125MAN2B1Likely benign-1RCV001470777; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276832312768323GA12768323-
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)4125MAN2B1Pathogenicrs368899357RCV000206900; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276832812768328CANC_000019.9:g.12768328C>AClinGen:CA350891,UniProtKB:O00754#VAR_068053C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1345G>A (p.Val449Ile)4125MAN2B1Uncertain significance-1RCV001890007; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276833412768334CT12768334-
NM_000528.4(MAN2B1):c.1341C>T (p.Asp447=)4125MAN2B1Likely benign-1RCV002203291; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276833812768338GA12768338-
NM_000528.4(MAN2B1):c.1337A>C (p.His446Pro)4125MAN2B1Uncertain significance-1RCV001915733; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276834212768342TG12768342-
NM_000528.4(MAN2B1):c.1333C>T (p.His445Tyr)4125MAN2B1Uncertain significancers864621983RCV000206993; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276834612768346GA19:g.12768346G>AClinGen:CA350999,UniProtKB:O00754#VAR_068052C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1329C>A (p.Leu443=)4125MAN2B1Likely benign-1RCV001395156; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276835012768350GT12768350-
NM_000528.4(MAN2B1):c.1313A>T (p.Glu438Val)4125MAN2B1Uncertain significance-1RCV001909702; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276836612768366TA12768366-
NM_000528.4(MAN2B1):c.1310-1G>A4125MAN2B1Likely pathogenicrs1555708156RCV000674115; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276837012768370CT19:g.12768370C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1310-7T>C4125MAN2B1Likely benign-1RCV001404289; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276837612768376AG12768376-
NM_000528.4(MAN2B1):c.1310-9T>C4125MAN2B1Likely benign-1RCV001424886; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276837812768378AG12768378-
NM_000528.4(MAN2B1):c.1310-22C>T4125MAN2B1Benignrs73002392RCV000675481|RCV001527141; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276839112768391GANC_000019.9:g.12768391G>A-CN517202 not provided;
NM_000528.4(MAN2B1):c.1309+17A>C4125MAN2B1Likely benign-1RCV002180225; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276886012768860TG12768860-
NM_000528.4(MAN2B1):c.1309+10G>A4125MAN2B1Likely benignrs1424931652RCV000944555|RCV001467199; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276886712768867CT19:g.12768867C>T-
NC_000019.9:g.(?_12768867)_(12769334_?)del4125MAN2B1Pathogenic-1RCV001972673; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276886712769334nana-1-
NM_000528.4(MAN2B1):c.1309+9C>T4125MAN2B1Likely benign-1RCV002073673; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276886812768868GA12768868-
NM_000528.4(MAN2B1):c.1309+7G>A4125MAN2B1Likely benign-1RCV002200733; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276887012768870CT12768870-
NM_000528.4(MAN2B1):c.1308_1309+2del4125MAN2B1Uncertain significancers1555708282RCV000674662; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276887512768878TACTGT19:g.12768875_12768878del-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1309+1G>T4125MAN2B1Likely pathogenicrs1057516745RCV000412292; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276887612768876CANC_000019.9:g.12768876C>AClinGen:CA16041952C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp)4125MAN2B1Uncertain significance-1RCV001987220; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276887712768877TC12768877-
NM_000528.4(MAN2B1):c.1302A>C (p.Ala434=)4125MAN2B1Likely benign-1RCV001471390; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276888412768884TG12768884-
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)4125MAN2B1Pathogenic/Likely pathogenicrs1057517408RCV000411548|RCV001374658; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenoty191276889012768906TGTCTCCGGAGCCATAGGTNC_000019.9:g.12768893_12768909delClinGen:CA16041953C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1290C>T (p.Ser430=)4125MAN2B1Likely benign-1RCV002106182; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276889612768896GA12768896-
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)4125MAN2B1Pathogenic/Likely pathogenicrs2024014272RCV001232309; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276890212768902AC19:g.12768902A>C-
NM_000528.4(MAN2B1):c.1278A>T (p.Gly426=)4125MAN2B1Likely benignrs950266158RCV000918012; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276890812768908TA19:g.12768908T>A-
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu)4125MAN2B1Uncertain significancers141650075RCV000347782; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276891312768913CANC_000019.9:g.12768913C>AClinGen:CA9226516C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1272C>T (p.Asn424=)4125MAN2B1Likely benign-1RCV001499810; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276891412768914GA12768914-
NM_000528.4(MAN2B1):c.1271A>G (p.Asn424Ser)4125MAN2B1Uncertain significance-1RCV002042947; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276891512768915TC12768915-
NM_000528.4(MAN2B1):c.1269C>T (p.Ala423=)4125MAN2B1Likely benign-1RCV001392047; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276891712768917GA12768917-
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)4125MAN2B1Uncertain significancers772853856RCV000206944; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276892712768927CANC_000019.9:g.12768927C>AClinGen:CA350942,UniProtKB:O00754#VAR_068051C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1259G>A (p.Gly420Asp)4125MAN2B1Uncertain significance-1RCV001939870; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276892712768927CT12768927-
NM_000528.4(MAN2B1):c.1252C>T (p.Leu418=)4125MAN2B1Likely benign-1RCV001441536; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276893412768934GA12768934-
NM_000528.4(MAN2B1):c.1251G>A (p.Ala417=)4125MAN2B1Likely benign-1RCV001502861; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276893512768935CT12768935-
NM_000528.4(MAN2B1):c.1245G>A (p.Leu415=)4125MAN2B1Likely benign-1RCV001404040; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276894112768941CT12768941-
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)4125MAN2B1Benignrs35836657RCV000117592|RCV000392754|RCV000675482; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276894812768948TC19:g.12768948T>CClinGen:CA153663,UniProtKB:O00754#VAR_003345C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1231-5_1231-4dup4125MAN2B1Likely benign-1RCV001397858; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276895812768959GGGA12768958-
NM_000528.4(MAN2B1):c.1231-5T>A4125MAN2B1Likely benignrs1419185296RCV000978754|RCV001414952; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276896012768960AT19:g.12768960A>T-
NM_000528.4(MAN2B1):c.1231-7C>T4125MAN2B1Likely benign-1RCV001459774; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276896212768962GA12768962-
NM_000528.4(MAN2B1):c.1231-8G>T4125MAN2B1Likely benign-1RCV001464993; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276896312768963CA12768963-
NM_000528.4(MAN2B1):c.1231-13C>T4125MAN2B1Conflicting interpretations of pathogenicityrs372848519RCV001128366; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276896812768968GA19:g.12768968G>A-
NM_000528.4(MAN2B1):c.1231-16A>G4125MAN2B1Likely benign-1RCV002188171; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276897112768971TC12768971-
NM_000528.4(MAN2B1):c.1230+15G>A4125MAN2B1Likely benign-1RCV002168842; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276902312769023CT12769023-
NM_000528.4(MAN2B1):c.1230+9G>C4125MAN2B1Conflicting interpretations of pathogenicityrs367590716RCV000897678; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276902912769029CG19:g.12769029C>G-
NM_000528.4(MAN2B1):c.1230+7A>G4125MAN2B1Likely benign-1RCV002174314; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276903112769031TC12769031-
NM_000528.4(MAN2B1):c.1230+7A>T4125MAN2B1Likely benign-1RCV002114485; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276903112769031TA12769031-
NM_000528.4(MAN2B1):c.1230+5G>T4125MAN2B1Uncertain significancers1398531876RCV000820209; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276903312769033CA19:g.12769033C>A-
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His)4125MAN2B1Uncertain significancers563097824RCV000498197|RCV001273204; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276903812769038CG19:g.12769038C>GClinGen:CA9226544CN169374 not specified;
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)4125MAN2B1Pathogenicrs2024019978RCV001329966; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276904012769040GA12769040-
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs)4125MAN2B1Pathogenicrs2024020274RCV001222726; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276904512769045GAG19:g.12769045_12769045del-
NM_000528.4(MAN2B1):c.1221C>T (p.Asn407=)4125MAN2B1Likely benign-1RCV001500851; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276904712769047GA12769047-
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)4125MAN2B1Likely benignrs559827776RCV000904323; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276905912769059GT19:g.12769059G>T-
NM_000528.4(MAN2B1):c.1209C>T (p.Arg403=)4125MAN2B1Likely benign-1RCV002178568; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276905912769059GA12769059-
NM_000528.4(MAN2B1):c.1206G>A (p.Glu402=)4125MAN2B1Likely benign-1RCV001410700; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276906212769062CT12769062-
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)4125MAN2B1Uncertain significancers370760999RCV000206895|RCV001509017; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276906412769064CTNC_000019.9:g.12769064C>TClinGen:CA350885,UniProtKB:O00754#VAR_003344C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)4125MAN2B1Pathogenicrs781291011RCV000761476; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276906512769065GCNC_000019.9:g.12769065G>C-
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs)4125MAN2B1Pathogenic-1RCV001953799; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276907012769071GGT12769070-
NM_000528.4(MAN2B1):c.1188G>A (p.Pro396=)4125MAN2B1Likely benign-1RCV001477085; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276908012769080CT12769080-
NM_000528.4(MAN2B1):c.1188G>C (p.Pro396=)4125MAN2B1Likely benign-1RCV002183360; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276908012769080CG12769080-
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=)4125MAN2B1Uncertain significancers745391577RCV000303304; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276908912769089GANC_000019.9:g.12769089G>AClinGen:CA9226557C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1168G>T (p.Gly390Cys)4125MAN2B1Uncertain significancers864621982RCV000206907; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276910012769100CA19:g.12769100C>AClinGen:CA350899,UniProtKB:O00754#VAR_068050C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)4125MAN2B1Conflicting interpretations of pathogenicityrs762375074RCV000929025; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276910112769101GA19:g.12769101G>A-
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)4125MAN2B1Likely pathogenicrs1057516524RCV000409662; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276910512769105CTNC_000019.9:g.12769105C>TClinGen:CA16041954C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)4125MAN2B1Conflicting interpretations of pathogenicityrs112829030RCV000968638|RCV001700958|RCV001726399; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN169374|MedGen:CN517202191276911012769110CT19:g.12769110C>T-
NM_000528.4(MAN2B1):c.1155C>T (p.His385=)4125MAN2B1Likely benign-1RCV002078789; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276911312769113GA12769113-
NM_000528.4(MAN2B1):c.1142C>T (p.Ala381Val)4125MAN2B1Uncertain significance-1RCV001922139; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276912612769126GA12769126-
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter)4125MAN2B1Pathogenic-1RCV001880849; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276912812769128GT12769128-
NM_000528.4(MAN2B1):c.1140C>T (p.Tyr380=)4125MAN2B1Likely benign-1RCV002109798; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276912812769128GA12769128-
NM_000528.4(MAN2B1):c.1136C>T (p.Pro379Leu)4125MAN2B1Uncertain significancers864621981RCV000206982; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276913212769132GA19:g.12769132G>AClinGen:CA350985,UniProtKB:O00754#VAR_068049C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1134C>T (p.Phe378=)4125MAN2B1Likely benign-1RCV001409379; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276913412769134GA12769134-
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=)4125MAN2B1Uncertain significancers886054231RCV000360420; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276913712769137GANC_000019.9:g.12769137G>AClinGen:CA10651512C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1125C>T (p.Asp375=)4125MAN2B1Likely benign-1RCV001500702; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276914312769143GA12769143-
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)4125MAN2B1Pathogenic-1RCV001929997; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276915112769151TA12769151-
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu)4125MAN2B1Uncertain significancers745579139RCV000819140; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276915412769154CA19:g.12769154C>A-
NM_000528.4(MAN2B1):c.1110-1G>T4125MAN2B1Likely pathogenicrs1599352199RCV000804900; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276915912769159CA19:g.12769159C>A-
NM_000528.4(MAN2B1):c.1110-4G>A4125MAN2B1Likely benignrs758041910RCV000943831; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276916212769162CT19:g.12769162C>T-
NM_000528.4(MAN2B1):c.1110-4G>T4125MAN2B1Likely benign-1RCV001406992; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276916212769162CA12769162-
NM_000528.4(MAN2B1):c.1110-7G>A4125MAN2B1Likely benign-1RCV002106720; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276916512769165CT12769165-
NM_000528.4(MAN2B1):c.1110-8C>T4125MAN2B1Conflicting interpretations of pathogenicityrs201690866RCV000558708|RCV001252561; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenoty191276916612769166GA19:g.12769166G>AClinGen:CA9226579C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1110-15C>G4125MAN2B1Uncertain significancers202085731RCV001122643; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276917312769173GC19:g.12769173G>C-
NM_000528.4(MAN2B1):c.1110-15C>T4125MAN2B1Benign-1RCV002127276; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276917312769173GA12769173-
NM_000528.4(MAN2B1):c.1109+41C>A4125MAN2B1Likely benignrs200862799RCV000665834; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276920112769201GT19:g.12769201G>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1109+10G>A4125MAN2B1Likely benignrs779635675RCV001278026; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276923212769232CT19:g.12769232C>T-
NM_000528.4(MAN2B1):c.1109+1G>C4125MAN2B1Likely pathogenicrs2024027294RCV001212173; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276924112769241CG19:g.12769241C>G-
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)4125MAN2B1Pathogenic/Likely pathogenicrs786204715RCV000169531; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276924212769242CTNC_000019.9:g.12769242C>TClinGen:CA274397C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1104C>A (p.Leu368=)4125MAN2B1Likely benign-1RCV001465670; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276924712769247GT12769247-
NM_000528.4(MAN2B1):c.1100A>G (p.Asn367Ser)4125MAN2B1Uncertain significance-1RCV001928184; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276925112769251TC12769251-
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)4125MAN2B1Pathogenic-1RCV001389584; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276927012769270CAC12769269-
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=)4125MAN2B1Likely benign-1RCV001416343; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276927112769271GC12769271-
NM_000528.4(MAN2B1):c.1078C>G (p.Leu360Val)4125MAN2B1Uncertain significance-1RCV001907246; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276927312769273GC12769273-
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs)4125MAN2B1Pathogenicrs2024028589RCV001055103; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276928212769283CCG19:g.12769282_12769283insG-
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)4125MAN2B1Benign/Likely benignrs117880912RCV000402847|RCV000675483|RCV000780389; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202|MedGen:CN169374191276928312769283GCNC_000019.9:g.12769283G>CClinGen:CA9226605C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)4125MAN2B1Conflicting interpretations of pathogenicityrs117880912RCV001122644; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276928312769283GA19:g.12769283G>A-
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)4125MAN2B1Uncertain significancers121434333RCV000001756; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276928412769284GC19:g.12769284G>CClinGen:CA339902,UniProtKB:O00754#VAR_003343,OMIM:609458.0005C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1066C>G (p.Pro356Ala)4125MAN2B1Uncertain significance-1RCV002023650; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276928512769285GC12769285-
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro)4125MAN2B1Uncertain significancers864621992RCV000206997; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276928812769288TG19:g.12769288T>GClinGen:CA351002,UniProtKB:O00754#VAR_003342C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1062C>T (p.Ser354=)4125MAN2B1Likely benign-1RCV002114597; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276928912769289GA12769289-
NM_000528.4(MAN2B1):c.1059C>T (p.Tyr353=)4125MAN2B1Likely benign-1RCV002180914; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276929212769292GA12769292-
NM_000528.4(MAN2B1):c.1056C>T (p.Leu352=)4125MAN2B1Likely benign-1RCV001401272; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276929512769295GA12769295-
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)4125MAN2B1Likely pathogenicrs864621980RCV000206932; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276929612769296AGNC_000019.9:g.12769296A>GClinGen:CA350927,UniProtKB:O00754#VAR_068048C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)4125MAN2B1Pathogenic-1RCV001386235|RCV001820085; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191276930212769303TTG12769302-
NM_000528.4(MAN2B1):c.1044T>C (p.Ser348=)4125MAN2B1Likely benign-1RCV001474801; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276930712769307AG12769307-
NM_000528.4(MAN2B1):c.1032A>G (p.Ala344=)4125MAN2B1Likely benign-1RCV002111490; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276931912769319TC12769319-
NM_000528.4(MAN2B1):c.1030G>C (p.Ala344Pro)4125MAN2B1Uncertain significance-1RCV001580731; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276932112769321CG12769321-
NM_000528.4(MAN2B1):c.1027-4G>A4125MAN2B1Likely benignrs368900863RCV000886688; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276932812769328CT19:g.12769328C>T-
NM_000528.4(MAN2B1):c.1027-6del4125MAN2B1Benign-1RCV002180238; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276933012769330TGT12769329-
NM_000528.4(MAN2B1):c.1027-7C>T4125MAN2B1Likely benign-1RCV001478927; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276933112769331GA12769331-
NM_000528.4(MAN2B1):c.1027-12C>G4125MAN2B1Likely benign-1RCV002200832; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276933612769336GC12769336-
NM_000528.4(MAN2B1):c.1027-20T>C4125MAN2B1Likely benign-1RCV002130298; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191276934412769344AG12769344-
NC_000019.9:g.(?_12772054)_(12777515_?)dup4125MAN2B1Uncertain significance-1RCV002014200; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277205412777515nana-1-
NM_000528.4(MAN2B1):c.1026+9G>A4125MAN2B1Likely benignrs762829719RCV000884812; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277206512772065CT19:g.12772065C>T-
NM_000528.4(MAN2B1):c.1026+8C>T4125MAN2B1Conflicting interpretations of pathogenicityrs199908179RCV001122645; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277206612772066GA19:g.12772066G>A-
NM_000528.4(MAN2B1):c.1026+7G>T4125MAN2B1Likely benign-1RCV002167774; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277206712772067CA12772067-
NM_000528.4(MAN2B1):c.1026+2T>C4125MAN2B1Likely pathogenicrs369099686RCV000668825; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277207212772072AG19:g.12772072A>G-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1026+2T>G4125MAN2B1Pathogenic-1RCV001844512; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277207212772072AC12772072-
NM_000528.4(MAN2B1):c.1023G>A (p.Ala341=)4125MAN2B1Likely benignrs755616565RCV000942741|RCV001410913; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277207712772077CT19:g.12772077C>T-
NM_000528.4(MAN2B1):c.1022C>T (p.Ala341Val)4125MAN2B1Uncertain significance-1RCV001929749; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277207812772078GA12772078-
NM_000528.4(MAN2B1):c.1020T>C (p.Asn340=)4125MAN2B1Likely benignrs1389459819RCV000932855|RCV001432416; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277208012772080AG19:g.12772080A>G-
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)4125MAN2B1Benignrs1133330RCV000079070|RCV000298455|RCV000675484; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277209012772090CT19:g.12772090C>TClinGen:CA146743,UniProtKB:O00754#VAR_003341C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1008C>A (p.Ile336=)4125MAN2B1Likely benign-1RCV002102479; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277209212772092GT12772092-
NM_000528.4(MAN2B1):c.1003C>T (p.Leu335Phe)4125MAN2B1Uncertain significance-1RCV002004933; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277209712772097GA12772097-
NM_000528.4(MAN2B1):c.993C>T (p.Asn331=)4125MAN2B1Likely benign-1RCV002087924; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277210712772107GA12772107-
NM_000528.4(MAN2B1):c.981G>T (p.Met327Ile)4125MAN2B1Uncertain significance-1RCV001918059; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277211912772119CA12772119-
NM_000528.4(MAN2B1):c.979_980del (p.Met327fs)4125MAN2B1Pathogenic-1RCV001877569; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277212012772121CATC12772119-
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=)4125MAN2B1Likely benignrs762918325RCV000981125; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277213412772134AG19:g.12772134A>G-
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer)4125MAN2B1Pathogenic-1RCV001898925; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277213412772135CATC12772133-
NM_000528.4(MAN2B1):c.956A>G (p.Asp319Gly)4125MAN2B1Uncertain significance-1RCV001974707; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277214412772144TC12772144-
NM_000528.4(MAN2B1):c.955G>C (p.Asp319His)4125MAN2B1Uncertain significance-1RCV001962471; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277214512772145CG12772145-
NM_000528.4(MAN2B1):c.953C>T (p.Ser318Leu)4125MAN2B1Uncertain significancers774034389RCV000206894; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277214712772147GANC_000019.9:g.12772147G>AClinGen:CA350884,UniProtKB:O00754#VAR_068046C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)4125MAN2B1Likely pathogenicrs774034389RCV001264252; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277214712772147GT19:g.12772147G>T-
NM_000528.4(MAN2B1):c.946A>G (p.Met316Val)4125MAN2B1Uncertain significance-1RCV001925414; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277215412772154TC12772154-
NM_000528.4(MAN2B1):c.945C>T (p.Thr315=)4125MAN2B1Likely benign-1RCV002199299; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277215512772155GA12772155-
NM_000528.4(MAN2B1):c.939G>T (p.Val313=)4125MAN2B1Likely benign-1RCV002147998; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277216112772161CA12772161-
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)4125MAN2B1Benignrs1054487RCV000079081|RCV000355741|RCV000675485; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277216512772165GA19:g.12772165G>AClinGen:CA146749,UniProtKB:O00754#VAR_003340C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)4125MAN2B1Benign/Likely benignrs1054487RCV000224033|RCV001699242|RCV001080162; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277216512772165GT19:g.12772165G>TClinGen:CA9226650CN517202 not provided;
NM_000528.4(MAN2B1):c.933C>T (p.His311=)4125MAN2B1Likely benignrs760393236RCV000975763|RCV001439115; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277216712772167GA19:g.12772167G>A-
NM_000528.4(MAN2B1):c.927C>T (p.Thr309=)4125MAN2B1Likely benignrs759023914RCV000934997; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277217312772173GA19:g.12772173G>A-
NM_000528.4(MAN2B1):c.924C>T (p.Arg308=)4125MAN2B1Likely benign-1RCV002074750; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277217612772176GA12772176-
NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys)4125MAN2B1Uncertain significance-1RCV001928006; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277217812772178GA12772178-
NM_000528.4(MAN2B1):c.921C>T (p.Tyr307=)4125MAN2B1Likely benignrs35087690RCV000932849; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277217912772179GA19:g.12772179G>A-
NM_000528.4(MAN2B1):c.915G>T (p.Arg305=)4125MAN2B1Likely benignrs755994517RCV000931476; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277218512772185CA19:g.12772185C>A-
NM_000528.4(MAN2B1):c.915G>A (p.Arg305=)4125MAN2B1Likely benign-1RCV001502018; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277218512772185CT12772185-
NM_000528.4(MAN2B1):c.914G>A (p.Arg305Gln)4125MAN2B1Uncertain significance-1RCV001913190; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277218612772186CT12772186-
NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp)4125MAN2B1Uncertain significance-1RCV001938270; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277218712772187GA12772187-
NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser)4125MAN2B1Uncertain significancers2024102051RCV001222042; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277219012772190CT19:g.12772190C>T-
NM_000528.4(MAN2B1):c.910-4G>T4125MAN2B1Likely benign-1RCV002205621; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277219412772194CA12772194-
NM_000528.4(MAN2B1):c.910-7C>T4125MAN2B1Likely benign-1RCV002152488; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277219712772197GA12772197-
NM_000528.4(MAN2B1):c.910-8G>C4125MAN2B1Likely benign-1RCV002157076; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277219812772198CG12772198-
NM_000528.4(MAN2B1):c.910-10T>G4125MAN2B1Likely benign-1RCV002198986; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277220012772200AC12772200-
NM_000528.4(MAN2B1):c.910-10T>C4125MAN2B1Likely benign-1RCV002138833; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277220012772200AG12772200-
NM_000528.4(MAN2B1):c.910-20G>A4125MAN2B1Likely benign-1RCV002100319; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277221012772210CT12772210-
NM_000528.4(MAN2B1):c.910-73A>G4125MAN2B1Benignrs2303731RCV000844588|RCV001527142; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277226312772263TC19:g.12772263T>C-
NM_000528.4(MAN2B1):c.909+10del4125MAN2B1Likely benign-1RCV002180240; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277412112774121ACA12774120-
NM_000528.4(MAN2B1):c.909+9G>A4125MAN2B1Likely benign-1RCV001416180; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277412212774122CT12774122-
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=)4125MAN2B1Likely benignrs749372996RCV000943033; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277413412774134GA19:g.12774134G>A-
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)4125MAN2B1Pathogenicrs2024151949RCV001224166; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277414312774144CCA19:g.12774143_12774144insA-
NM_000528.4(MAN2B1):c.889C>T (p.Leu297=)4125MAN2B1Likely benign-1RCV001468208; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277415112774151GA12774151-
NM_000528.4(MAN2B1):c.888C>T (p.Phe296=)4125MAN2B1Likely benign-1RCV002137387; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277415212774152GA12774152-
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn)4125MAN2B1Uncertain significancers973412688RCV001223963; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277416012774160CT19:g.12774160C>T-
NM_000528.4(MAN2B1):c.879C>T (p.Val293=)4125MAN2B1Likely benign-1RCV001415847; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277416112774161GA12774161-
NM_000528.4(MAN2B1):c.879C>A (p.Val293=)4125MAN2B1Likely benign-1RCV002211477; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277416112774161GT12774161-
NM_000528.4(MAN2B1):c.876G>A (p.Leu292=)4125MAN2B1Likely benign-1RCV001462407; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277416412774164CT12774164-
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=)4125MAN2B1Likely benignrs141077530RCV000918347; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277416612774166GA19:g.12774166G>A-
NM_000528.4(MAN2B1):c.867C>T (p.Ala289=)4125MAN2B1Likely benign-1RCV001428970; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277417312774173GA12774173-
NM_000528.4(MAN2B1):c.864C>T (p.Asn288=)4125MAN2B1Likely benignrs146909343RCV000970546; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277417612774176GA19:g.12774176G>A-
NM_000528.4(MAN2B1):c.862A>G (p.Asn288Asp)4125MAN2B1Uncertain significance-1RCV002038216; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277417812774178TC12774178-
NM_000528.4(MAN2B1):c.861C>T (p.Tyr287=)4125MAN2B1Likely benign-1RCV001469448; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277417912774179GA12774179-
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)4125MAN2B1Uncertain significancers772562587RCV000779250; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277418412774184CTNC_000019.9:g.12774184C>T-
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)4125MAN2B1Conflicting interpretations of pathogenicityrs139218045RCV000263305; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277418512774185GANC_000019.9:g.12774185G>AClinGen:CA9226692C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.855C>G (p.Pro285=)4125MAN2B1Likely benign-1RCV002094495; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277418512774185GC12774185-
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)4125MAN2B1Conflicting interpretations of pathogenicityrs45576136RCV000675486|RCV001123738; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277419612774196GANC_000019.9:g.12774196G>A-CN517202 not provided;
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=)4125MAN2B1Uncertain significancers886054232RCV000329916; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277419712774197GANC_000019.9:g.12774197G>AClinGen:CA10651513C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.840G>A (p.Glu280=)4125MAN2B1Likely benign-1RCV002098165; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277420012774200CT12774200-
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)4125MAN2B1Benignrs1054486RCV000079080|RCV000368270|RCV000675487; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277420812774208GC19:g.12774208G>CClinGen:CA146747,UniProtKB:O00754#VAR_003339C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.831G>A (p.Pro277=)4125MAN2B1Likely benign-1RCV001435144; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277420912774209CT12774209-
NM_000528.4(MAN2B1):c.830C>T (p.Pro277Leu)4125MAN2B1Uncertain significance-1RCV001992861; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277421012774210GA12774210-
NM_000528.4(MAN2B1):c.822C>T (p.Val274=)4125MAN2B1Likely benign-1RCV002149365; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277421812774218GA12774218-
NM_000528.4(MAN2B1):c.810T>C (p.Asp270=)4125MAN2B1Likely benign-1RCV001486893; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277423012774230AG12774230-
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)4125MAN2B1Likely pathogenicrs1329771201RCV001264253; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277423312774233CT19:g.12774233C>T-
NM_000528.4(MAN2B1):c.792A>C (p.Pro264=)4125MAN2B1Likely benign-1RCV002080671; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277424812774248TG12774248-
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=)4125MAN2B1Likely benignrs149484019RCV000883285; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277425112774251CT19:g.12774251C>T-
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)4125MAN2B1Likely pathogenicrs746808159RCV000206987; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277425212774252GANC_000019.9:g.12774252G>AClinGen:CA350992,UniProtKB:O00754#VAR_068044C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del)4125MAN2B1Uncertain significancers1555709511RCV000665620; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277425412774256GGTTG19:g.12774254_12774256del-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.785A>G (p.Asn262Ser)4125MAN2B1Uncertain significance-1RCV001982578; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277425512774255TC12774255-
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)4125MAN2B1Pathogenicrs2024155693RCV001255537; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277425712774257GT19:g.12774257G>T-
NM_000528.4(MAN2B1):c.783C>T (p.Tyr261=)4125MAN2B1Likely benign-1RCV002097146; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277425712774257GA12774257-
NM_000528.4(MAN2B1):c.773C>T (p.Pro258Leu)4125MAN2B1Uncertain significance-1RCV001907966; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277426712774267GA12774267-
NM_000528.4(MAN2B1):c.767T>G (p.Val256Gly)4125MAN2B1Uncertain significance-1RCV001907555; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277427312774273AC12774273-
NM_000528.4(MAN2B1):c.764-1G>C4125MAN2B1Likely pathogenicrs1555709533RCV000670394; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277427712774277CG19:g.12774277C>G-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.763+9C>T4125MAN2B1Likely benign-1RCV001473521; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277450812774508GA12774508-
NM_000528.4(MAN2B1):c.763+2_763+8del4125MAN2B1Likely pathogenicrs1057517108RCV000409213|RCV001268902; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277450912774515GCCCCCTAGNC_000019.9:g.12774511_12774517delClinGen:CA16041955C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=)4125MAN2B1Uncertain significancers2024162767RCV001123739; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277451812774518AG19:g.12774518A>G-
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser)4125MAN2B1Benignrs3745650RCV000884354; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277453212774532CA19:g.12774532C>A-
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=)4125MAN2B1Benignrs61737536RCV000178786|RCV000276174|RCV000675488; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277453312774533GA19:g.12774533G>AClinGen:CA203021C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)4125MAN2B1Conflicting interpretations of pathogenicityrs3745649RCV000889406; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277453612774536CT19:g.12774536C>T-
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)4125MAN2B1Conflicting interpretations of pathogenicityrs117843968RCV000178787|RCV000528570|RCV001311166; NMedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277453712774537GA19:g.12774537G>AClinGen:CA203023,UniProtKB:O00754#VAR_068043C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.743C>G (p.Pro248Arg)4125MAN2B1Uncertain significance-1RCV001931394; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277453712774537GC12774537-
NM_000528.4(MAN2B1):c.729C>T (p.Thr243=)4125MAN2B1Likely benign-1RCV002144091; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277455112774551GA12774551-
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln)4125MAN2B1Benign/Likely benignrs11554970RCV000333570; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277456112774561CTNC_000019.9:g.12774561C>TClinGen:CA9226731C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp)4125MAN2B1Uncertain significancers201448121RCV000685385; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277456212774562GA19:g.12774562G>A-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu)4125MAN2B1Likely pathogenic-1RCV001991025; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277459412774594CA12774594-
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)4125MAN2B1Pathogenic/Likely pathogenicrs763257568RCV000206936; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277459512774595GA19:g.12774595G>AClinGen:CA350933,UniProtKB:O00754#VAR_068042C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.673G>C (p.Asp225His)4125MAN2B1Uncertain significance-1RCV001966549; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277460712774607CG12774607-
NM_000528.4(MAN2B1):c.660C>T (p.Arg220=)4125MAN2B1Likely benign-1RCV001418537; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277462012774620GA12774620-
NM_000528.4(MAN2B1):c.659G>A (p.Arg220His)4125MAN2B1Uncertain significance-1RCV001942504; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277462112774621CT12774621-
NM_000528.4(MAN2B1):c.642C>T (p.Asp214=)4125MAN2B1Likely benignrs755806804RCV000977282; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277463812774638GA19:g.12774638G>A-
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)4125MAN2B1Conflicting interpretations of pathogenicityrs886054233RCV000380810; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277464112774641GANC_000019.9:g.12774641G>AClinGen:CA10652252C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.631-4_631-3del4125MAN2B1Likely benign-1RCV002113284; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277465212774653TGGT12774651-
NM_000528.4(MAN2B1):c.631-4C>T4125MAN2B1Likely benign-1RCV002207110; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277465312774653GA12774653-
NM_000528.4(MAN2B1):c.631-9C>T4125MAN2B1Likely benign-1RCV001429205; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277465812774658GA12774658-
NM_000528.4(MAN2B1):c.631-17T>G4125MAN2B1Likely benign-1RCV002216472; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277466612774666AC12774666-
NM_000528.4(MAN2B1):c.631-19T>C4125MAN2B1Likely benign-1RCV002151058; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277466812774668AG12774668-
NM_000528.4(MAN2B1):c.630+12G>C4125MAN2B1Benign/Likely benignrs368271384RCV000288724; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277559412775594CGNC_000019.9:g.12775594C>GClinGen:CA9226760C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.630+10G>A4125MAN2B1Likely benign-1RCV002109851; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277559612775596CT12775596-
NM_000528.4(MAN2B1):c.630+9C>T4125MAN2B1Likely benign-1RCV001403426; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277559712775597GA12775597-
NM_000528.4(MAN2B1):c.630+9C>G4125MAN2B1Likely benign-1RCV002161730; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277559712775597GC12775597-
NM_000528.4(MAN2B1):c.630+7C>A4125MAN2B1Likely benign-1RCV002094949; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277559912775599GT12775599-
NM_000528.4(MAN2B1):c.630+6A>T4125MAN2B1Uncertain significancers372899975RCV001126401; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277560012775600TA19:g.12775600T>A-
NM_000528.4(MAN2B1):c.627_630+1dup4125MAN2B1Pathogenic-1RCV001953714; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277560412775605AACCTGC12775604-
NM_000528.4(MAN2B1):c.624T>C (p.Phe208=)4125MAN2B1Likely benign-1RCV002131079; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277561212775612AG12775612-
NM_000528.4(MAN2B1):c.619C>A (p.Leu207Met)4125MAN2B1Uncertain significance-1RCV001965106; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277561712775617GT12775617-
NM_000528.4(MAN2B1):c.618G>A (p.Ser206=)4125MAN2B1Likely benign-1RCV001471383; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277561812775618CT12775618-
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp)4125MAN2B1Likely benignrs139290127RCV000971670; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277562712775627CA19:g.12775627C>A-
NM_000528.4(MAN2B1):c.609G>A (p.Glu203=)4125MAN2B1Likely benign-1RCV001470438; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277562712775627CT12775627-
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro)4125MAN2B1Uncertain significancers864621979RCV000207009; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277563112775631CG19:g.12775631C>GClinGen:CA351019,UniProtKB:O00754#VAR_068041C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.602C>G (p.Ser201Cys)4125MAN2B1Uncertain significance-1RCV001994097; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277563412775634GC12775634-
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu)4125MAN2B1Uncertain significancers864621978RCV000206976; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277563712775637TANC_000019.9:g.12775637T>AClinGen:CA350978,UniProtKB:O00754#VAR_026412C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)4125MAN2B1Conflicting interpretations of pathogenicityrs772108001RCV000206941; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277563812775638GTNC_000019.9:g.12775638G>TClinGen:CA350939,UniProtKB:O00754#VAR_068040C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)4125MAN2B1Conflicting interpretations of pathogenicityrs200872797RCV000327235|RCV000942954; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277563912775639GANC_000019.9:g.12775639G>AClinGen:CA9226773C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=)4125MAN2B1Benignrs371341958RCV000967729; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277564212775642GA19:g.12775642G>A-
NM_000528.4(MAN2B1):c.591C>T (p.Pro197=)4125MAN2B1Likely benign-1RCV001408675; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277564512775645GA12775645-
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)4125MAN2B1Likely pathogenicrs864621977RCV000207004; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277564612775646GC19:g.12775646G>CClinGen:CA351013,UniProtKB:O00754#VAR_068039C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.582C>T (p.His194=)4125MAN2B1Likely benign-1RCV002200034; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277565412775654GA12775654-
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)4125MAN2B1Uncertain significancers750137512RCV001128450; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277567112775671GT19:g.12775671G>T-
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)4125MAN2B1Pathogenicrs1429239930RCV000781513; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277567412775674GANC_000019.9:g.12775674G>A-
NM_000528.4(MAN2B1):c.561del (p.Arg188fs)4125MAN2B1Pathogenic-1RCV001939631; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277567512775675GCG12775674-
NM_000528.4(MAN2B1):c.552C>A (p.Gly184=)4125MAN2B1Likely benign-1RCV001489663; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277568412775684GT12775684-
NM_000528.4(MAN2B1):c.531C>A (p.Arg177=)4125MAN2B1Likely benign-1RCV001417362; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277570512775705GT12775705-
NM_000528.4(MAN2B1):c.526C>T (p.Leu176=)4125MAN2B1Likely benign-1RCV001396525; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277571012775710GA12775710-
NM_000528.4(MAN2B1):c.525G>A (p.Gly175=)4125MAN2B1Likely benign-1RCV001460163; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277571112775711CT12775711-
NM_000528.4(MAN2B1):c.504C>T (p.Ile168=)4125MAN2B1Likely benign-1RCV002120115; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277573212775732GA12775732-
NM_000528.4(MAN2B1):c.496G>A (p.Gly166Ser)4125MAN2B1Uncertain significance-1RCV001995227; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277574012775740CT12775740-
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)4125MAN2B1Pathogenicrs771479314RCV001264254; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277574112775741GT19:g.12775741G>T-
NM_000528.4(MAN2B1):c.495C>T (p.Tyr165=)4125MAN2B1Likely benign-1RCV002128964; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277574112775741GA12775741-
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs)4125MAN2B1Pathogenic-1RCV001387352; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277574812775749GGTGGC12775748-
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn)4125MAN2B1Uncertain significancers864621976RCV000206956; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277576112775761CTNC_000019.9:g.12775761C>TClinGen:CA350956,UniProtKB:O00754#VAR_068038C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=)4125MAN2B1Likely benignrs146331898RCV000917086; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277576212775762GA19:g.12775762G>A-
NM_000528.4(MAN2B1):c.469A>T (p.Met157Leu)4125MAN2B1Uncertain significancers1216161567RCV001343085; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277576712775767TA12775767-
NM_000528.4(MAN2B1):c.468G>A (p.Val156=)4125MAN2B1Likely benign-1RCV002100156; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277576812775768CT12775768-
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer)4125MAN2B1Pathogenicrs2024192356RCV001204515; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277577012775770ACA19:g.12775770_12775770del-
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)4125MAN2B1Conflicting interpretations of pathogenicityrs200164758RCV000968907|RCV001766798; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277578112775781TC19:g.12775781T>C-
NM_000528.4(MAN2B1):c.450C>T (p.Phe150=)4125MAN2B1Likely benign-1RCV001412650; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277578612775786GA12775786-
NM_000528.4(MAN2B1):c.446del (p.Glu149fs)4125MAN2B1Likely pathogenicrs1057516682RCV000412446; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277579012775790CTCNC_000019.9:g.12775790delClinGen:CA16041956C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.444G>C (p.Leu148=)4125MAN2B1Likely benignrs794727626RCV000976809|RCV001471151; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277579212775792CG19:g.12775792C>G-
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)4125MAN2B1Uncertain significancers765088432RCV001278027; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277579712775797GA19:g.12775797G>A-
NM_000528.4(MAN2B1):c.437-1dup4125MAN2B1Pathogenic-1RCV001389021; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277579712775798GGC12775797-
NM_000528.4(MAN2B1):c.437-6G>A4125MAN2B1Likely benign-1RCV001492765; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277580512775805CT12775805-
NM_000528.4(MAN2B1):c.437-8T>C4125MAN2B1Likely benign-1RCV001487647; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277580712775807AG12775807-
NM_000528.4(MAN2B1):c.436+12C>G4125MAN2B1Likely benign-1RCV002142688; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277615412776154GC12776154-
NM_000528.4(MAN2B1):c.436+7C>T4125MAN2B1Likely benign-1RCV001487399; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277615912776159GA12776159-
NM_000528.4(MAN2B1):c.436G>A (p.Gly146Arg)4125MAN2B1Uncertain significance-1RCV001880470; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277616612776166CT12776166-
NM_000528.4(MAN2B1):c.429G>A (p.Val143=)4125MAN2B1Likely benign-1RCV002072501; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277617312776173CT12776173-
NM_000528.4(MAN2B1):c.426del (p.Val143fs)4125MAN2B1Pathogenicrs2024205685RCV001047909; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277617612776176CAC19:g.12776176_12776176del-
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)4125MAN2B1Pathogenic/Likely pathogenicrs778399351RCV000412409; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277618012776180GTGNC_000019.9:g.12776180delClinGen:CA9226819C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)4125MAN2B1Likely benignrs139281846RCV000972336; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277618312776183CT19:g.12776183C>T-
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)4125MAN2B1Pathogenic/Likely pathogenicrs370803545RCV000384198; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277618412776184GANC_000019.9:g.12776184G>AClinGen:CA10648318C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.418C>A (p.Arg140=)4125MAN2B1Likely benign-1RCV001447917; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277618412776184GT12776184-
NM_000528.4(MAN2B1):c.414C>T (p.Val138=)4125MAN2B1Likely benign-1RCV001398008; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277618812776188GA12776188-
NM_000528.4(MAN2B1):c.402C>T (p.Ala134=)4125MAN2B1Likely benign-1RCV002079413; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277620012776200GA12776200-
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)4125MAN2B1Pathogenicrs1366682636RCV001038214; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277621412776214GA19:g.12776214G>A-
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)4125MAN2B1Pathogenicrs1555709972RCV000594878|RCV001775912; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277621812776218CT19:g.12776218C>TClinGen:CA404256264C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.366C>G (p.Ala122=)4125MAN2B1Likely benign-1RCV001492122; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277623612776236GC12776236-
NM_000528.4(MAN2B1):c.360G>A (p.Glu120=)4125MAN2B1Likely benign-1RCV002075165; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277624212776242CT12776242-
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)4125MAN2B1Likely pathogenicrs2024208039RCV001252564; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277624412776244CT19:g.12776244C>T-
NM_000528.4(MAN2B1):c.354C>T (p.Tyr118=)4125MAN2B1Likely benign-1RCV001463234; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277624812776248GA12776248-
NM_000528.4(MAN2B1):c.334C>T (p.Pro112Ser)4125MAN2B1Uncertain significance-1RCV001908213; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277626812776268GA12776268-
NM_000528.4(MAN2B1):c.325C>T (p.Leu109=)4125MAN2B1Likely benignrs756417972RCV000980191|RCV001406546; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277627712776277GA19:g.12776277G>A-
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)4125MAN2B1Pathogenic-1RCV001381974; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277627812776279CATT12776278-
NM_000528.4(MAN2B1):c.322T>C (p.Leu108=)4125MAN2B1Likely benign-1RCV001501432; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277628012776280AG12776280-
NM_000528.4(MAN2B1):c.321C>T (p.Ala107=)4125MAN2B1Likely benign-1RCV001416361; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277628112776281GA12776281-
NM_000528.4(MAN2B1):c.309G>T (p.Ser103=)4125MAN2B1Likely benignrs1175779934RCV000941291|RCV001445791; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277629312776293CA19:g.12776293C>A-
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=)4125MAN2B1Uncertain significancers1175779934RCV001325076; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277629312776293CT12776293-
NM_000528.4(MAN2B1):c.309G>C (p.Ser103=)4125MAN2B1Likely benign-1RCV002194239; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277629312776293CG12776293-
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)4125MAN2B1Pathogenic-1RCV001389809; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277629412776294GA12776294-
NM_000528.4(MAN2B1):c.306C>T (p.Asp102=)4125MAN2B1Likely benign-1RCV001465609; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277629612776296GA12776296-
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His)4125MAN2B1Uncertain significancers794727484RCV000177078|RCV000206921; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277630712776307AG19:g.12776307A>GClinGen:CA243182,UniProtKB:O00754#VAR_068037C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)4125MAN2B1Pathogenic-1RCV001382555; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277630812776309CCT12776308-
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)4125MAN2B1Likely pathogenicrs2024210372RCV001263679; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277631012776310GA19:g.12776310G>A-
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)4125MAN2B1Conflicting interpretations of pathogenicityrs750997069RCV000282921; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277631712776317GANC_000019.9:g.12776317G>AClinGen:CA9226844C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.285C>G (p.Ala95=)4125MAN2B1Likely benign-1RCV001438719; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277631712776317GC12776317-
NM_000528.4(MAN2B1):c.283G>C (p.Ala95Pro)4125MAN2B1Uncertain significancers754036398RCV000207012; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277631912776319CG19:g.12776319C>GClinGen:CA351022,UniProtKB:O00754#VAR_068036C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.282C>T (p.His94=)4125MAN2B1Conflicting interpretations of pathogenicityrs766810849RCV001128451; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277632012776320GA19:g.12776320G>A-
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)4125MAN2B1Likely pathogenicrs1057516325RCV000410290; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277632512776325GANC_000019.9:g.12776325G>AClinGen:CA16041957C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.276C>A (p.Ile92=)4125MAN2B1Likely benign-1RCV002206112; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277632612776326GT12776326-
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)4125MAN2B1Uncertain significancers751849414RCV001278028; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277632812776328TC19:g.12776328T>C-
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=)4125MAN2B1Benignrs199592101RCV000913793; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277633812776338GT19:g.12776338G>T-
NM_000528.4(MAN2B1):c.263-4A>C4125MAN2B1Likely benign-1RCV001417803; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277634312776343TG12776343-
NM_000528.4(MAN2B1):c.263-7T>C4125MAN2B1Likely benign-1RCV001409313; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277634612776346AG12776346-
NM_000528.4(MAN2B1):c.263-8A>G4125MAN2B1Likely benignrs1463660136RCV000942380; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277634712776347TC19:g.12776347T>C-
NM_000528.4(MAN2B1):c.263-10T>C4125MAN2B1Likely benign-1RCV001427092; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277634912776349AG12776349-
NM_000528.4(MAN2B1):c.263-12T>C4125MAN2B1Likely benign-1RCV002186982; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277635112776351AG12776351-
NM_000528.4(MAN2B1):c.262+16G>A4125MAN2B1Likely benign-1RCV002167077; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277650112776501CT12776501-
NM_000528.4(MAN2B1):c.262+10G>A4125MAN2B1Likely benign-1RCV001494446; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277650712776507CT12776507-
NM_000528.4(MAN2B1):c.262+1G>C4125MAN2B1Pathogenic-1RCV001783632; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277651612776516CG12776516-
NM_000528.4(MAN2B1):c.258T>C (p.Tyr86=)4125MAN2B1Likely benign-1RCV002202797; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277652112776521AG12776521-
NM_000528.4(MAN2B1):c.256dup (p.Tyr86fs)4125MAN2B1Pathogenic-1RCV001947965; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277652212776523TTA12776522-
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)4125MAN2B1Pathogenicrs2024217737RCV001209865; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277653212776532GA19:g.12776532G>A-
NM_000528.4(MAN2B1):c.240C>T (p.Thr80=)4125MAN2B1Likely benign-1RCV002183838; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277653912776539GA12776539-
NM_000528.4(MAN2B1):c.237_238del (p.Lys79fs)4125MAN2B1Pathogenic-1RCV002042128; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277654112776542GTTG12776540-
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro)4125MAN2B1Uncertain significancers1387086908RCV001128452; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277654612776546AG19:g.12776546A>G-
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)4125MAN2B1Likely pathogenicrs1555710070RCV000669543; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277654812776548CT19:g.12776548C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.228C>T (p.Gly76=)4125MAN2B1Likely benign-1RCV001492059; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277655112776551GA12776551-
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu)4125MAN2B1Uncertain significancers938995975RCV000814108; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277655512776555AT19:g.12776555A>T-
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)4125MAN2B1Pathogenicrs746702002RCV000206959|RCV001572479; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277655712776557GTNC_000019.9:g.12776557G>TClinGen:CA350959,UniProtKB:O00754#VAR_068035C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.222C>T (p.Asp74=)4125MAN2B1Likely benign-1RCV001436123; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277655712776557GA12776557-
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly)4125MAN2B1Uncertain significance-1RCV001870851; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277656112776561TC12776561-
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)4125MAN2B1Pathogenic/Likely pathogenicrs387906261RCV000001752; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277656412776564TA19:g.12776564T>AClinGen:CA339900,UniProtKB:O00754#VAR_003338,OMIM:609458.0001C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs)4125MAN2B1Pathogenic-1RCV001901344; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277656412776567ATGTGA12776563-
NM_000528.4(MAN2B1):c.212C>T (p.Thr71Ile)4125MAN2B1Uncertain significance-1RCV001360084; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277656712776567GA12776567-
NM_000528.4(MAN2B1):c.201G>A (p.Leu67=)4125MAN2B1Likely benign-1RCV001492046; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277657812776578CT12776578-
NM_000528.4(MAN2B1):c.183C>T (p.Asn61=)4125MAN2B1Likely benign-1RCV001416850; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277659612776596GA12776596-
NM_000528.4(MAN2B1):c.180G>A (p.Pro60=)4125MAN2B1Likely benign-1RCV001419848; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277659912776599CT12776599-
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs)4125MAN2B1Pathogenic-1RCV001914417; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277660412776613TGCACTGTGGGT12776603-
NM_000528.4(MAN2B1):c.165C>T (p.Cys55=)4125MAN2B1Likely benign-1RCV002168397; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277661412776614GA12776614-
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)4125MAN2B1Uncertain significancers864621975RCV000206911; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277661512776615CA19:g.12776615C>AClinGen:CA350902,UniProtKB:O00754#VAR_068034C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs)4125MAN2B1Pathogenic-1RCV001907827; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277661712776618ATGA12776616-
NM_000528.4(MAN2B1):c.162A>G (p.Thr54=)4125MAN2B1Likely benign-1RCV002218600; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277661712776617TC12776617-
NM_000528.4(MAN2B1):c.162del (p.Cys55fs)4125MAN2B1Likely pathogenic-1RCV002221412; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277661712776617ATA12776616-
NM_000528.4(MAN2B1):c.160-5T>C4125MAN2B1Likely benign-1RCV001470326; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277662412776624AG12776624-
NM_000528.4(MAN2B1):c.160-12G>A4125MAN2B1Likely benign-1RCV002142292; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277663112776631CT12776631-
NM_000528.4(MAN2B1):c.159+20T>C4125MAN2B1Likely benign-1RCV002125443; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277733712777337AG12777337-
NM_000528.4(MAN2B1):c.159+9G>A4125MAN2B1Likely benignrs764391534RCV000942117; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277734812777348CT19:g.12777348C>T-
NM_000528.4(MAN2B1):c.159+9G>C4125MAN2B1Likely benign-1RCV002076615; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277734812777348CG12777348-
NM_000528.4(MAN2B1):c.159+7G>A4125MAN2B1Likely benign-1RCV002077609; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277735012777350CT12777350-
NM_000528.4(MAN2B1):c.159+2T>C4125MAN2B1Conflicting interpretations of pathogenicityrs1057516501RCV000409222; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277735512777355AGNC_000019.9:g.12777355A>GClinGen:CA16041958C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.159+1G>A4125MAN2B1Likely pathogenicrs1555710254RCV000667733; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277735612777356CT19:g.12777356C>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.150G>C (p.Gly50=)4125MAN2B1Likely benign-1RCV002184947; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277736612777366CG12777366-
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=)4125MAN2B1Benignrs200413076RCV000340244; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277738112777381GANC_000019.9:g.12777381G>AClinGen:CA9226907C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.135C>G (p.Ala45=)4125MAN2B1Likely benignrs200413076RCV000981433; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277738112777381GC19:g.12777381G>C-
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu)4125MAN2B1Uncertain significancers867517934RCV001040190; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277738812777388GT19:g.12777388G>T-
NM_000528.4(MAN2B1):c.126G>C (p.Leu42=)4125MAN2B1Likely benign-1RCV002128491; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277739012777390CG12777390-
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro)4125MAN2B1Likely benign-1RCV001527143; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277740012777400AG12777400-
NM_000528.4(MAN2B1):c.114C>T (p.Phe38=)4125MAN2B1Likely benign-1RCV002220423; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277740212777402GA12777402-
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)4125MAN2B1Pathogenic-1RCV001385075; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277741012777411CAGC12777409-
NM_000528.4(MAN2B1):c.96C>T (p.Leu32=)4125MAN2B1Likely benign-1RCV002171718; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277742012777420GA12777420-
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs)4125MAN2B1Likely pathogenicrs1057516972RCV000409925; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277742212777423GGCNC_000019.9:g.12777423dupClinGen:CA16041959C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile)4125MAN2B1Uncertain significancers1471471874RCV001046531; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277742212777422GT19:g.12777422G>T-
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)4125MAN2B1Likely benignrs1407475487RCV000893517|RCV001273205; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277743512777435GA19:g.12777435G>A-
NM_000528.4(MAN2B1):c.75C>G (p.Ser25=)4125MAN2B1Likely benign-1RCV002105332; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277744112777441GC12777441-
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs)4125MAN2B1Pathogenic-1RCV001381300; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277744612777447TTGGTCCAGGGGCCTGCTG12777446-
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter)4125MAN2B1Pathogenic-1RCV001909768; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277745012777450CT12777450-
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)4125MAN2B1Conflicting interpretations of pathogenicityrs766383135RCV000779251; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277745112777451CTNC_000019.9:g.12777451C>T-
NM_000528.4(MAN2B1):c.64T>C (p.Trp22Arg)4125MAN2B1Uncertain significance-1RCV001962423; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277745212777452AG12777452-
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)4125MAN2B1Uncertain significancers1408334891RCV001216085|RCV001751403; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277745412777454GT19:g.12777454G>T-
NM_000528.4(MAN2B1):c.60C>A (p.Gly20=)4125MAN2B1Likely benign-1RCV002144239; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277745612777456GT12777456-
NM_000528.4(MAN2B1):c.59G>A (p.Gly20Asp)4125MAN2B1Uncertain significance-1RCV002022636; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277745712777457CT12777457-
NM_000528.4(MAN2B1):c.57A>G (p.Ala19=)4125MAN2B1Likely benign-1RCV002074861; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277745912777459TC12777459-
NM_000528.4(MAN2B1):c.55G>A (p.Ala19Thr)4125MAN2B1Uncertain significance-1RCV002030651; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277746112777461CT12777461-
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)4125MAN2B1Pathogenic/Likely pathogenicrs1057516810RCV000410677; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277746212777463TTANC_000019.9:g.12777462_12777463insAClinGen:CA16041960C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.51C>T (p.Asp17=)4125MAN2B1Likely benign-1RCV001446315; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277746512777465GA12777465-
NM_000528.4(MAN2B1):c.50A>G (p.Asp17Gly)4125MAN2B1Uncertain significance-1RCV001899547; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277746612777466TC12777466-
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=)4125MAN2B1Uncertain significancers777286610RCV001128453; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277746812777468CT19:g.12777468C>T-
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=)4125MAN2B1Likely benignrs537304777RCV000942135|RCV001472896; NMedGen:CN517202|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277747712777477GC19:g.12777477G>C-
NM_000528.4(MAN2B1):c.39C>A (p.Arg13=)4125MAN2B1Likely benign-1RCV002200366; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277747712777477GT12777477-
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)4125MAN2B1Uncertain significancers747538432RCV001300126; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277748212777482CT12777482-
NM_000528.4(MAN2B1):c.33C>T (p.Cys11=)4125MAN2B1Likely benignrs1599361566RCV000930626; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277748312777483GA19:g.12777483G>A-
NM_000528.4(MAN2B1):c.30C>G (p.Val10=)4125MAN2B1Likely benign-1RCV001440195; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277748612777486GC12777486-
NM_000528.4(MAN2B1):c.29T>G (p.Val10Gly)4125MAN2B1Uncertain significance-1RCV002039826; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277748712777487AC12777487-
NM_000528.4(MAN2B1):c.28G>A (p.Val10Ile)4125MAN2B1Uncertain significance-1RCV002001945; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277748812777488CT12777488-
NM_000528.4(MAN2B1):c.27G>T (p.Gly9=)4125MAN2B1Likely benign-1RCV001441488; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277748912777489CA12777489-
NM_000528.4(MAN2B1):c.27G>C (p.Gly9=)4125MAN2B1Likely benign-1RCV001451274|RCV002070278; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61|MedGen:CN517202191277748912777489CG12777489-
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu)4125MAN2B1Uncertain significancers1170799731RCV001278555; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277749012777490CT19:g.12777490C>T-
NM_000528.4(MAN2B1):c.24G>C (p.Ser8=)4125MAN2B1Likely benign-1RCV002215585; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277749212777492CG12777492-
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)4125MAN2B1Uncertain significance-1RCV002042618; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277749712777497CG12777497-
NM_000528.4(MAN2B1):c.16C>A (p.Arg6=)4125MAN2B1Likely benign-1RCV001424964; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277750012777500GT12777500-
NM_000528.4(MAN2B1):c.9del (p.Tyr4fs)4125MAN2B1Pathogenic-1RCV001956279; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277750712777507AGA12777506-
NM_000528.4(MAN2B1):c.9C>T (p.Ala3=)4125MAN2B1Likely benign-1RCV002209685; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277750712777507GA12777507-
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs)4125MAN2B1Uncertain significancers1290585382RCV000670726; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277751412777515CATC19:g.12777514_12777515del-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr)4125MAN2B1Uncertain significancers1555710357RCV000673831; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277751412777514AG19:g.12777514A>G-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys)4125MAN2B1Uncertain significancers1555710357RCV000669848; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277751412777514AT19:g.12777514A>T-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)4125MAN2B1Uncertain significancers967834240RCV000667554; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277751512777515TC19:g.12777515T>C-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu)4125MAN2B1Uncertain significancers967834240RCV000667657; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277751512777515TA19:g.12777515T>A-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu)4125MAN2B1Uncertain significancers967834240RCV000667872; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277751512777515TG19:g.12777515T>G-C0024748 248500 Deficiency of alpha-mannosidase;
NM_000528.4(MAN2B1):c.-19A>G4125MAN2B1Uncertain significancers886054234RCV000407641; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277753412777534TCNC_000019.9:g.12777534T>CClinGen:CA10651515C0024748 248500 Deficiency of alpha-mannosidase;
NM_001173498.1(MAN2B1):c.-73G>T4125MAN2B1Uncertain significancers544325509RCV000286521; NMONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500, Orphanet:61191277758812777588CANC_000019.9:g.12777588C>AClinGen:CA10642328C0024748 248500 Deficiency of alpha-mannosidase;
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