MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Congenital Disorders of Glycosylation (D018981)
..Starting node
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Congenital disorder of glycosylation type 1E (C535743)

       Child Nodes:



 Sister Nodes: 
..expandColoboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities (C567328)
..expandCONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
..expandCongenital disorder of glycosylation type 1A (C535739)
..expandCongenital disorder of glycosylation type 1B (C535740)
..expandCongenital disorder of glycosylation type 1C (C535741)
..expandCongenital disorder of glycosylation type 1D (C535742)
..expandCongenital disorder of glycosylation type 1E (C535743)
..expandCongenital disorder of glycosylation type 1F (C535744)
..expandCongenital disorder of glycosylation type 1G (C535745)
..expandCongenital disorder of glycosylation type 1H (C535746)
..expandCongenital disorder of glycosylation type 1I (C000623088)
..expandCongenital disorder of glycosylation type 1J (C535748)
..expandCongenital disorder of glycosylation type 1K (C535749)
..expandCongenital disorder of glycosylation type 1L (C535750)
..expandCongenital disorder of glycosylation type 1X (C535751)
..expandCongenital disorder of glycosylation type 2A (C535752)
..expandCongenital disorder of glycosylation type 2D (C535753)
..expandCongenital disorder of glycosylation type 2E (C535754)
..expandCongenital disorder of glycosylation type II (C535747)
..expandCongenital disorder of glycosylation, type 2C (C535755)
..expandCongenital disorder of glycosylation, type 2G (C535756)
..expandCongenital Disorder Of Glycosylation, Type I-IIX (C562844)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
..expandCongenital Disorder Of Glycosylation, Type IIB (C565264)
..expandCongenital Disorder Of Glycosylation, Type IIF (C567040)
..expandCongenital Disorder Of Glycosylation, Type IIH (C566987)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
..expandCongenital Disorder Of Glycosylation, Type IIID (C564625)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
..expandCongenital Disorder Of Glycosylation, Type Im (C563666)
..expandCongenital Disorder Of Glycosylation, Type In (C567437)
..expandCongenital Disorder of Glycosylation, Type Io (C567857)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
..expandNGLY1 deficiency (C000626124)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2892
Name:Congenital disorder of glycosylation type 1E
Definition:
Alternative IDs:OMIM:608799
ParentIDs:MESH:D018981
TreeNumbers:C16.320.565.202.125/C535743 |C18.452.648.202.125/C535743
Synonyms:CDG1E |CDGIe |CDG Ie |Congenital Disorder of Glycosylation, Type IE
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C535743
MeSH: C535743
OMIM: 608799;
MSeqDR LSDB:  
Genes: DPM1; MNX1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001103Abnormal macular morphology
4 HP:0006466Ankle contracture
5 HP:0001251Ataxia
6 HP:0012385Camptodactyly
7 HP:0100704Cortical visual impairment
8 HP:0005280Depressed nasal bridge
9 HP:0000494Downslanted palpebral fissures
10 HP:0002353EEG abnormality
11 HP:0002910Elevated hepatic transaminases
12 HP:0003236Elevated serum creatine phosphokinase
13 HP:0001508Failure to thrive
14 HP:0005469Flat occiput
15 HP:0001290Generalized hypotonia
16 HP:0001028Hemangioma
17 HP:0002240Hepatomegaly
18 HP:0002705High, narrow palate
19 HP:0000316Hypertelorism
20 HP:0006380Knee flexion contracture
21 HP:0002395Lower limb hyperreflexia
22 HP:0000347Micrognathia
23 HP:0003560Muscular dystrophy
NAMDC:  Likely HP:0003560 Muscular dystrophy
24 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
25 HP:0002164Nail dysplasia
26 HP:0000639Nystagmus
27 HP:0000648Optic atrophy
28 HP:0001643Patent ductus arteriosus
29 HP:0006879Pontocerebellar atrophy
30 HP:0005484Postnatal microcephaly
31 HP:0003676Progressive
32 HP:0003645Prolonged partial thromboplastin time
33 HP:0001976Reduced antithrombin III activity
34 HP:0005543Reduced protein C activity
35 HP:0004855Reduced protein S activity
36 HP:0002098Respiratory distress
37 HP:0000488Retinopathy
38 HP:0001250Seizures
NAMDC:  Seizures
39 HP:0011344Severe global developmental delay
40 HP:0004279Short palm
41 HP:0200055Small hand
42 HP:0000319Smooth philtrum
43 HP:0001744Splenomegaly
44 HP:0000486Strabismus
45 HP:0001009Telangiectasia
46 HP:0001337Tremor
47 HP:0003642Type I transferrin isoform profile
48 HP:0009824Upper limb undergrowth
49 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000020.11:g.(?_50934864)_(50958574_?)del8813DPM1Pathogenic-1RCV000813344; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955140149575111nana-
NM_003859.3(DPM1):c.*248T>A8813DPM1Uncertain significancers1020154329RCV001140476; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955142149551421AT20:g.49551421A>T-
NM_003859.3(DPM1):c.*191A>G8813DPM1Uncertain significancers771510447RCV000333909; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955147849551478TCNC_000020.10:g.49551478T>CClinGen:CA10649863C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.*159A>G8813DPM1Uncertain significancers775290919RCV001140477; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955151049551510TC20:g.49551510T>C-
NM_003859.3(DPM1):c.*117A>G8813DPM1Uncertain significancers920558366RCV001142327; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955155249551552TC20:g.49551552T>C-
NM_003859.3(DPM1):c.*12T>C8813DPM1Uncertain significancers758875594RCV001142328; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955165749551657AG20:g.49551657A>G-
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)8813DPM1Uncertain significancers146262101RCV000388420|RCV000814156; NMONDO:MONDO:0015286,MedGen:C0282577, Orphanet:137|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955167349551673GANC_000020.10:g.49551673G>AClinGen:CA9908986C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala)8813DPM1Uncertain significancers748394583RCV000805129; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955168949551689TC20:g.49551689T>C-
NM_003859.3(DPM1):c.759A>G (p.Leu253=)8813DPM1Uncertain significancers769964944RCV000293892; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955169349551693TCNC_000020.10:g.49551693T>CClinGen:CA9908991C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.757T>G (p.Leu253Val)8813DPM1Uncertain significancers773403940RCV000640153; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955169549551695ACNC_000020.10:g.49551695A>CClinGen:CA9908992C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg)8813DPM1Uncertain significancers1205339617RCV001054152; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955169849551698CT20:g.49551698C>T-
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)8813DPM1Likely pathogenicrs587777114RCV000087034; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955171049551710AG20:g.49551710A>GClinGen:CA150575,UniProtKB:O60762#VAR_019841,OMIM:603503.0004C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.726A>G (p.Gly242=)8813DPM1Likely benign-1RCV002209514; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955172649551726TC49551726-
NM_003859.3(DPM1):c.706T>C (p.Tyr236His)8813DPM1Uncertain significance-1RCV001944453; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955174649551746AG49551746-
NM_003859.3(DPM1):c.702T>C (p.Arg234=)8813DPM1Likely benign-1RCV001454934; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955175049551750AG49551750-
NM_003859.3(DPM1):c.701G>A (p.Arg234His)8813DPM1Uncertain significancers760322056RCV000493058|RCV001070016; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955175149551751CT20:g.49551751C>TClinGen:CA9908996CN169374 not specified;
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly)8813DPM1Uncertain significancers1411036424RCV001350638; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955175449551754TC49551754-
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser)8813DPM1Uncertain significance-1RCV001992276; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955176049551760AG49551760-
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala)8813DPM1Uncertain significancers1985042327RCV001337450; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955176449551764AC49551764-
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)8813DPM1Uncertain significancers559946698RCV000685067; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955176749551767TC20:g.49551767T>C-C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.684A>G (p.Pro228=)8813DPM1Likely benignrs369538517RCV000531672|RCV000607576|RCV002060317; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955176849551768TC20:g.49551768T>CClinGen:CA9908999C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.679-7_679-6insTT8813DPM1Benign/Likely benignrs11480415RCV000224121|RCV000375652|RCV001081055; NMedGen:CN517202|MONDO:MONDO:0015286,MedGen:C0282577, Orphanet:137|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955177949551780TTAA20:g.49551779_49551780insAAClinGen:CA9909002C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.679-7_679-6insT8813DPM1Benign/Likely benignrs11480415RCV000349084|RCV001082937|RCV000419498|RCV001726134; NMONDO:MONDO:0015286,MedGen:C0282577, Orphanet:137|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322|MedGen:CN517202|MedGen:CN169374204955177949551780TTANC_000020.10:g.49551779_49551780insAClinGen:CA9909001C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.679-7_679-6insTTT8813DPM1Benignrs11480415RCV000543213; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955177949551780TTAAA20:g.49551779_49551780insAAAClinGen:CA9909003C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.679-7A>T8813DPM1Benignrs60224379RCV000080352|RCV000560311|RCV001573876; NMedGen:CN169374|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322|MedGen:CN517202204955178049551780TA20:g.49551780T>AClinGen:CA147789C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.679-8dup8813DPM1Benignrs11483542RCV000603859|RCV001516823|RCV001574040; NMedGen:CN169374|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322|MedGen:CN517202204955178049551781TTA20:g.49551780_49551781insAClinGen:CA9909006CN169374 not specified;
NM_003859.3(DPM1):c.679-8T>A8813DPM1Likely benign-1RCV002081345; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955178149551781AT49551781-
NM_003859.3(DPM1):c.679-12T>A8813DPM1Likely benign-1RCV001464779; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955178549551785AT49551785-
NM_003859.3(DPM1):c.678+18A>C8813DPM1Likely benign-1RCV002200288; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955266749552667TG49552667-
NM_003859.3(DPM1):c.678+15C>G8813DPM1Uncertain significance-1RCV002051115; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955267049552670GC49552670-
NM_003859.3(DPM1):c.678+9C>T8813DPM1Likely benignrs749718528RCV000874287; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955267649552676GA20:g.49552676G>A-
NM_003859.3(DPM1):c.678+9C>G8813DPM1Likely benign-1RCV002214676; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955267649552676GC49552676-
NM_003859.3(DPM1):c.678+8A>G8813DPM1Likely benign-1RCV001422923; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955267749552677TC49552677-
NM_003859.3(DPM1):c.678+4T>G8813DPM1Uncertain significancers948892336RCV001338877; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955268149552681AC49552681-
NM_003859.3(DPM1):c.678+1G>C8813DPM1Uncertain significancers1985138848RCV001217419; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955268449552684CG20:g.49552684C>G-
NM_003859.3(DPM1):c.675C>T (p.Gly225=)8813DPM1Uncertain significancers1414447653RCV001053488; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955268849552688GA20:g.49552688G>A-
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn)8813DPM1Uncertain significance-1RCV001881614; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955269249552692AT49552692-
NM_003859.3(DPM1):c.669T>C (p.Thr223=)8813DPM1Likely benignrs561078570RCV000902899|RCV001504534; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955269449552694AG20:g.49552694A>G-
NM_003859.3(DPM1):c.658T>C (p.Leu220=)8813DPM1Likely benign-1RCV001474665; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955270549552705AG49552705-
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg)8813DPM1Uncertain significance-1RCV001998865; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955270749552707TC49552707-
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)8813DPM1Uncertain significance-1RCV001995493; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955271449552714CT49552714-
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln)8813DPM1Uncertain significance-1RCV001931621; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955271649552716CT49552716-
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr)8813DPM1Uncertain significancers1439856985RCV001206448; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955272249552722AG20:g.49552722A>G-
NM_003859.3(DPM1):c.628del (p.Gln210fs)8813DPM1Pathogenicrs1568757730RCV000006678; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955273549552735TGTNC_000020.10:g.49552736delOMIM:603503.0003
NM_003859.3(DPM1):c.622G>A (p.Val208Ile)8813DPM1Uncertain significancers938379512RCV001142329; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955274149552741CT20:g.49552741C>T-
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys)8813DPM1Uncertain significance-1RCV001955419; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955274349552743TC49552743-
NM_003859.3(DPM1):c.617G>T (p.Gly206Val)8813DPM1Uncertain significance-1RCV001933473; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955274649552746CA49552746-
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr)8813DPM1Uncertain significancers528582693RCV001044902; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955275849552758CT20:g.49552758C>T-
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp)8813DPM1Uncertain significancers1601016907RCV000814743; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955278449552784TG20:g.49552784T>G-
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)8813DPM1Pathogenic-1RCV001982510; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955279249552792GA49552792-
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)8813DPM1Uncertain significancers754109868RCV001142330; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955279349552793GA20:g.49552793G>A-
NM_003859.3(DPM1):c.567A>G (p.Leu189=)8813DPM1Likely benign-1RCV002154316; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955279649552796TC49552796-
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del8813DPM1Pathogenic-1RCV000087037; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955280049571722nanaOMIM:603503.0007C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.564-24AT[3]8813DPM1Likely benign-1RCV002162589; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955281649552817AATA49552815-
NM_003859.3(DPM1):c.564-20A>G8813DPM1Likely benign-1RCV002162750; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955281949552819TC49552819-
NC_000020.11:g.(?_50940845)_(50942146_?)del8813DPM1Uncertain significance-1RCV000707993; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955738249558683nana-C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.563+15T>C8813DPM1Likely benign-1RCV002100059; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955738749557387AG49557387-
NM_003859.3(DPM1):c.552A>C (p.Thr184=)8813DPM1Likely benign-1RCV001447607; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955741349557413TG49557413-
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser)8813DPM1Uncertain significancers1985671191RCV001041628; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955745049557450GC20:g.49557450G>C-
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)8813DPM1Uncertain significancers727503905RCV000153165|RCV001808420; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955745949557459TC20:g.49557459T>CClinGen:CA233916CN169374 not specified;
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys)8813DPM1Uncertain significance-1RCV001885640; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955746949557469GA49557469-
NM_003859.3(DPM1):c.494+9A>C8813DPM1Likely benign-1RCV001428851; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955855949558559TG49558559-
NM_003859.3(DPM1):c.494+8C>T8813DPM1Likely benignrs367586095RCV000963553; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955856049558560GA20:g.49558560G>A-
NM_003859.3(DPM1):c.494+7A>G8813DPM1Likely benignrs1441485408RCV000978690|RCV001399378; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955856149558561TC20:g.49558561T>C-
NM_003859.3(DPM1):c.494+2T>C8813DPM1Likely pathogenic-1RCV002042647; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955856649558566AG49558566-
NM_003859.3(DPM1):c.490_493del (p.Ile164fs)8813DPM1Pathogenicrs781115721RCV001063137; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955856949558572CTGATC20:g.49558569_49558572del-
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala)8813DPM1Uncertain significancers77532041RCV001052287; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955858949558589TG20:g.49558589T>G-
NM_003859.3(DPM1):c.459T>C (p.Gly153=)8813DPM1Likely benign-1RCV001505656; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955860349558603AG49558603-
NM_003859.3(DPM1):c.456A>G (p.Gly152=)8813DPM1Conflicting interpretations of pathogenicityrs370598866RCV001142331; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955860649558606TC20:g.49558606T>C-
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)8813DPM1Pathogenicrs587777116RCV000087036; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955860749558607CA20:g.49558607C>AClinGen:CA150577,UniProtKB:O60762#VAR_070592,OMIM:603503.0006C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)8813DPM1Likely pathogenic-1RCV001795601; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955862349558623GA49558623-
NM_003859.3(DPM1):c.414T>C (p.Gly138=)8813DPM1Likely benign-1RCV001426809; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955864849558648AG49558648-
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp)8813DPM1Uncertain significancers373944766RCV000698233; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955864949558649CT20:g.49558649C>T-C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.409G>T (p.Glu137Ter)8813DPM1Pathogenicrs753780084RCV000541426; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204955865349558653CA20:g.49558653C>AClinGen:CA408989429C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.398+13T>C8813DPM1Benign/Likely benignrs201703497RCV000603323|RCV002062954; NMedGen:CN169374|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956226149562261AG20:g.49562261A>GClinGen:CA9909121CN169374 not specified;
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr)8813DPM1Uncertain significancers752831768RCV000693299; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956228749562287GTNC_000020.10:g.49562287G>T-C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)8813DPM1Uncertain significancers752831768RCV000805277; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956228749562287GA20:g.49562287G>A-
NM_003859.3(DPM1):c.384T>C (p.Ile128=)8813DPM1Likely benignrs1555822595RCV000528962; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956228849562288AGNC_000020.10:g.49562288A>GClinGen:CA510893841C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.373-5T>A8813DPM1Pathogenicrs587777115RCV000087035; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956230449562304AT20:g.49562304A>TClinGen:CA150576,OMIM:603503.0005C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.373-11T>C8813DPM1Likely benign-1RCV002135343; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956231049562310AG49562310-
NM_003859.3(DPM1):c.371A>G (p.His124Arg)8813DPM1Likely pathogenic-1RCV001420139; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956238549562385TC49562385-
NM_003859.3(DPM1):c.357T>C (p.Ala119=)8813DPM1Likely benignrs371895653RCV000876153|RCV001405474; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956239949562399AG20:g.49562399A>G-
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr)8813DPM1Uncertain significance-1RCV001995645; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956240149562401CT49562401-
NM_003859.3(DPM1):c.331_343del (p.Gly111fs)8813DPM1Pathogenicrs1272097668RCV000691834; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956241349562425ATGATGTAGTTTCCANC_000020.10:g.49562415_49562427del-C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.339C>T (p.Tyr113=)8813DPM1Likely benignrs749555898RCV000640156; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956241749562417GA20:g.49562417G>AClinGen:CA9909139C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn)8813DPM1Uncertain significance-1RCV002013741; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956241949562419AT49562419-
NM_003859.3(DPM1):c.326C>T (p.Ala109Val)8813DPM1Uncertain significancers1986256273RCV001346995; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956243049562430GA49562430-
NM_003859.3(DPM1):c.303A>G (p.Ala101=)8813DPM1Likely benignrs139211110RCV000428051|RCV000874545|RCV002059914; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956245349562453TC20:g.49562453T>CClinGen:CA9909142CN169374 not specified;
NM_003859.3(DPM1):c.296-5T>C8813DPM1Uncertain significance-1RCV001904160; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956246549562465AG49562465-
NM_003859.3(DPM1):c.296-9C>A8813DPM1Uncertain significance-1RCV001373199; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956246949562469GT49562469-
NM_003859.3(DPM1):c.296-9C>G8813DPM1Uncertain significance-1RCV002035712; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956246949562469GC49562469-
NM_003859.3(DPM1):c.296-10T>C8813DPM1Likely benign-1RCV001431663; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956247049562470AG49562470-
NM_003859.3(DPM1):c.296-12T>C8813DPM1Benign/Likely benignrs200030885RCV002058971|RCV001720225; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322|MedGen:CN517202204956247249562472AG20:g.49562472A>GClinGen:CA9909147CN169374 not specified;
NM_003859.3(DPM1):c.295+8G>A8813DPM1Conflicting interpretations of pathogenicityrs758553918RCV000882123; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956515849565158CTNC_000020.10:g.49565158C>TClinGen:CA10653228C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.295+8G>C8813DPM1Likely benignrs758553918RCV000978120|RCV001476963; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956515849565158CG20:g.49565158C>G-
NM_003859.3(DPM1):c.295+7C>T8813DPM1Uncertain significancers775797102RCV001137588; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956515949565159GA20:g.49565159G>A-
NM_003859.3(DPM1):c.286T>C (p.Leu96=)8813DPM1Conflicting interpretations of pathogenicityrs780244460RCV000417491|RCV000966524|RCV001137589; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956517549565175AG20:g.49565175A>GClinGen:CA9909163CN169374 not specified;
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln)8813DPM1Uncertain significancers1324570980RCV000548409; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956518649565186CTNC_000020.10:g.49565186C>TClinGen:CA408975882C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)8813DPM1Pathogenicrs121908583RCV000006676; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956518749565187GC20:g.49565187G>CClinGen:CA118111,UniProtKB:O60762#VAR_012341,OMIM:603503.0001C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.273A>G (p.Pro91=)8813DPM1Likely benignrs766462970RCV000539922|RCV001434017; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956518849565188TC20:g.49565188T>CClinGen:CA510880932C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.262-9T>C8813DPM1Likely benign-1RCV002216120; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204956520849565208AG49565208-
NM_003859.3(DPM1):c.261+8A>G8813DPM1Uncertain significance-1RCV001975274; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957171549571715TC49571715-
NM_003859.3(DPM1):c.261T>A (p.Ile87=)8813DPM1Uncertain significancers774440510RCV000527464; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957172349571723AT20:g.49571723A>TClinGen:CA9909185C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.259A>G (p.Ile87Val)8813DPM1Uncertain significancers1986763754RCV001350704; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957172549571725TC49571725-
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly)8813DPM1Uncertain significancers1364834319RCV000640154; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957173049571730TC20:g.49571730T>CClinGen:CA408978592C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)8813DPM1Uncertain significancers760351795RCV000551442; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957174949571749CG20:g.49571749C>GClinGen:CA408978633C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.232T>C (p.Leu78=)8813DPM1Likely benign-1RCV001475956; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957175249571752AG49571752-
NM_003859.3(DPM1):c.219T>C (p.Asp73=)8813DPM1Likely benign-1RCV002145918; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957176549571765AG49571765-
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile)8813DPM1Uncertain significance-1RCV002045781; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957177249571772GA49571772-
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala)8813DPM1Uncertain significancers1986767219RCV001040057; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957178249571782GC20:g.49571782G>C-
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe)8813DPM1Uncertain significancers1986768557RCV001217416; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957180649571806TA20:g.49571806T>A-
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer)8813DPM1Pathogenic-1RCV001939620; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957181049571811CATC49571809-
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe)8813DPM1Uncertain significancers1040795570RCV000696010; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957181149571811TANC_000020.10:g.49571811T>A-C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys)8813DPM1Uncertain significancers1040795570RCV000792180; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957181149571811TC20:g.49571811T>C-
NM_003859.3(DPM1):c.171C>T (p.Asn57=)8813DPM1Likely benignrs755192460RCV000841290|RCV001505855; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957181349571813GA20:g.49571813G>A-
NM_003859.3(DPM1):c.168C>G (p.Ile56Met)8813DPM1Uncertain significancers562769511RCV000795847; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957181649571816GC20:g.49571816G>C-
NM_003859.3(DPM1):c.162-3del8813DPM1Uncertain significancers1568774485RCV001210351; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957182549571825TAT20:g.49571825_49571825del-
NM_003859.3(DPM1):c.162-17A>G8813DPM1Likely benignrs376823531RCV000609470|RCV002066557; NMedGen:CN169374|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957183949571839TC20:g.49571839T>CClinGen:CA9909206CN169374 not specified;
NM_003859.3(DPM1):c.161+16_161+21del8813DPM1Likely benign-1RCV002197365; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957487949574884GGAGGGAG49574878-
NM_003859.3(DPM1):c.161+18C>T8813DPM1Likely benign-1RCV002201142; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957488249574882GA49574882-
NM_003859.3(DPM1):c.161+17C>T8813DPM1Likely benignrs777976660RCV000841483|RCV002068590; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957488349574883GA20:g.49574883G>A-
NM_003859.3(DPM1):c.161+10C>T8813DPM1Conflicting interpretations of pathogenicityrs779869066RCV000436227|RCV000402745; NMedGen:CN169374|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957489049574890GANC_000020.10:g.49574890G>AClinGen:CA9909225C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.142G>A (p.Val48Met)8813DPM1Uncertain significance-1RCV002039827; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957491949574919CT49574919-
NM_003859.3(DPM1):c.127A>G (p.Ile43Val)8813DPM1Uncertain significance-1RCV001945720; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957493449574934TC49574934-
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg)8813DPM1Uncertain significance-1RCV001893705; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957493949574939GC49574939-
NM_003859.3(DPM1):c.117C>T (p.Asn39=)8813DPM1Likely benign-1RCV001464388; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957494449574944GA49574944-
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys)8813DPM1Uncertain significancers767978019RCV000798053; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957494949574949CT20:g.49574949C>T-
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser)8813DPM1Uncertain significancers369939483RCV000534415; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957495249574952GTNC_000020.10:g.49574952G>TClinGen:CA9909238C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys)8813DPM1Uncertain significance-1RCV001913008; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957495249574952GA49574952-
NM_003859.3(DPM1):c.84G>C (p.Ser28=)8813DPM1Benign/Likely benignrs16995639RCV000304194|RCV000560503; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322|MedGen:CN517202204957497749574977CGNC_000020.10:g.49574977C>GClinGen:CA9909241C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.84G>A (p.Ser28=)8813DPM1Conflicting interpretations of pathogenicityrs16995639RCV000544287; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957497749574977CTNC_000020.10:g.49574977C>TClinGen:CA9909242C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg)8813DPM1Uncertain significancers1986960670RCV001352586; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957499049574990TC49574990-
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg)8813DPM1Uncertain significance-1RCV001944212; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957499849574998AT49574998-
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly)8813DPM1Uncertain significancers148674319RCV000703331; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957500049575000TC20:g.49575000T>C-C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu)8813DPM1Uncertain significancers376257244RCV000554247; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957500249575002CANC_000020.10:g.49575002C>AClinGen:CA9909249C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.57G>T (p.Val19=)8813DPM1Likely benign-1RCV002205795; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957500449575004CA49575004-
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln)8813DPM1Uncertain significancers11553474RCV000696849; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957500949575009CGNC_000020.10:g.49575009C>G-C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.52del (p.Glu18fs)8813DPM1Pathogenic-1RCV001970123; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957500949575009TCT49575008-
NM_003859.3(DPM1):c.49C>G (p.Leu17Val)8813DPM1Uncertain significance-1RCV001986621; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957501249575012GC49575012-
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln)8813DPM1Uncertain significance-1RCV002046943; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957501549575015CG49575015-
NM_003859.3(DPM1):c.42G>T (p.Arg14=)8813DPM1Likely benign-1RCV001404383; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957501949575019CA49575019-
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)8813DPM1Conflicting interpretations of pathogenicityrs117175017RCV000398073|RCV000494117|RCV000553888; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322|MedGen:CN169374|MedGen:CN517202204957502149575021GANC_000020.10:g.49575021G>AClinGen:CA9909261C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.35G>T (p.Arg12Met)8813DPM1Uncertain significancers559291357RCV001349381; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957502649575026CA49575026-
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys)8813DPM1Uncertain significance-1RCV001882381; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957502649575026CT49575026-
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg)8813DPM1Uncertain significancers755912457RCV001231189; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957503249575032GC20:g.49575032G>C-
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly)8813DPM1Uncertain significancers17850343RCV000796255; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957503649575036TC20:g.49575036T>C-
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)8813DPM1Conflicting interpretations of pathogenicityrs201392536RCV000248387|RCV000310194|RCV000893854; NMedGen:CN169374|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322|MedGen:CN517202204957503949575039GANC_000020.10:g.49575039G>AClinGen:CA9909270C0282577 Congenital disorder of glycosylation;
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly)8813DPM1Uncertain significancers201392536RCV001062546; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957503949575039GC20:g.49575039G>C-
NM_003859.3(DPM1):c.20G>A (p.Ser7Asn)8813DPM1Uncertain significancers776145598RCV000640155; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957504149575041CT20:g.49575041C>TClinGen:CA9909273C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.19A>G (p.Ser7Gly)8813DPM1Uncertain significancers147804856RCV000818952; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957504249575042TC20:g.49575042T>C-
NM_003859.3(DPM1):c.18C>G (p.Val6=)8813DPM1Likely benignrs141104808RCV000882942|RCV001416164; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957504349575043GC20:g.49575043G>C-
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp)8813DPM1Uncertain significance-1RCV001998654; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957505049575050AC49575050-
NM_003859.3(DPM1):c.9C>G (p.Ser3=)8813DPM1Likely benignrs150509150RCV000615930|RCV000640157|RCV001421990; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957505249575052GC20:g.49575052G>CClinGen:CA9909282C1837396 608799 Congenital disorder of glycosylation type 1E;
NM_003859.3(DPM1):c.9C>T (p.Ser3=)8813DPM1Likely benignrs150509150RCV000983192|RCV001453875; NMedGen:CN517202|MONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957505249575052GA20:g.49575052G>A-
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)8813DPM1Uncertain significancers139624629RCV000821507; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957506049575060TG20:g.49575060T>G-
NM_003859.3(DPM1):c.1A>G (p.Met1Val)8813DPM1Pathogenic/Likely pathogenicrs139624629RCV001205494; NMONDO:MONDO:0012123,MedGen:C1837396,OMIM:608799, Orphanet:79322204957506049575060TC20:g.49575060T>C-
MSeqDR Portal