MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
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Parent Node:
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Muscular Dystrophies, Limb-Girdle (D049288)
..Starting node
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)

       Child Nodes:



 Sister Nodes: 
..expandBeta-sarcoglycanopathy (C535435)
..expandCARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE (OMIM:616812)
..expandDysferlinopathy (C537995)
..expandEpidermolysa bullosa simplex and limb girdle muscular dystrophy (C535955)
..expandInclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..expandLimb-girdle muscular dystrophy autosomal recessive (C538640)
..expandLimb-girdle muscular dystrophy type 2A (C535895)
..expandLimb-girdle muscular dystrophy type 2H (C535897)
..expandLimb-girdle muscular dystrophy, type 1B (C535898)
..expandLimb-Girdle Muscular Dystrophy, Type 1G (C563794)
..expandLimb-girdle muscular dystrophy, type 2B (C535899)
..expandMUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE (OMIM:616827)
..expandMUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
..expandMUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..expandMuscular Dystrophy, Hemizygous Lethal Type (C564097)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
..expandMuscular dystrophy, limb-girdle, type 1A (C535906)
..expandMuscular Dystrophy, Limb-Girdle, Type 1C (C563362)
..expandMuscular Dystrophy, Limb-Girdle, Type 1D (C566370)
..expandMuscular Dystrophy, Limb-Girdle, Type 1E (C566589)
..expandMuscular Dystrophy, Limb-Girdle, Type 1F (C564242)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H (OMIM:613530)
..expandMuscular Dystrophy, Limb-Girdle, Type 2G (C566599)
..expandMuscular Dystrophy, Limb-Girdle, Type 2I (C564612)
..expandMuscular Dystrophy, Limb-Girdle, Type 2J (C563854)
..expandMuscular Dystrophy, Limb-Girdle, Type 2L (C566968)
..expandMuscular Dystrophy, Limb-Girdle, Type 2M (C566912)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 (OMIM:615351)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 (OMIM:616094)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
..expandMYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
..expandMyopathy, limb-girdle, with bone fragility (C536104)
..expandSarcoglycanopathies (D058088) Child3
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8348
Name:MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
Definition:
Alternative IDs:DO:DOID:0110287
ParentIDs:MESH:D049288
TreeNumbers:C05.651.534.500.280/615356 |C10.668.491.175.500.149/615356 |C16.320.577.280/615356
Synonyms:LGMD2S |LGMDR18 |MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 615356
MeSH: 615356
OMIM: 615356;
MSeqDR LSDB:  
Genes: TRAPPC11;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002571AchalasiaHP:0040283
3 HP:0000522AlacrimaHP:0040283
4 HP:0001251Ataxia
5 HP:0002305Athetosis
6 HP:0000518Cataract
NAMDC:  Cataracts
7 HP:0001272Cerebellar atrophyHP:0040283
8 HP:0002072Chorea
NAMDC:  Chorea
9 HP:0003429CNS hypomyelinationHP:0040283
10 HP:0002355Difficulty walking
11 HP:0001332Dystonia
NAMDC:  Dystonia
12 HP:0002910Elevated hepatic transaminasesHP:0040283
13 HP:0003236Elevated serum creatine phosphokinase
14 HP:0001290Generalized hypotonia
15 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
16 HP:0001263Global developmental delay
NAMDC:  Mental retardation
17 HP:0003391Gowers sign
18 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
HP:0040283
19 HP:0002240HepatomegalyHP:0040283
20 HP:0001385Hip dysplasia
21 HP:0003307Hyperlordosis
22 HP:0002540Inability to walk
23 HP:0001249Intellectual disability
24 HP:0006785Limb-girdle muscular dystrophy
25 HP:0000252Microcephaly
26 HP:0003394Muscle cramps
27 HP:0003326Myalgia
28 HP:0000545Myopia
29 HP:0003812Phenotypic variability
30 HP:0002465Poor speech
31 HP:0002650Scoliosis
32 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
33 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
34 HP:0000486Strabismus
35 HP:0001337Tremor
36 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000004.12:g.(?_183663858)_(183712654_?)del60684TRAPPC11Pathogenic-1RCV001032900; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585011184633807nana-1-
NC_000004.11:g.(?_184585021)_(184633797_?)dup60684TRAPPC11Uncertain significance-1RCV001982655; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585021184633797nana-1-
NC_000004.11:g.(?_184585021)_(184633797_?)del60684TRAPPC11Pathogenic-1RCV001953408; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585021184633797nana-1-
NM_021942.6(TRAPPC11):c.16T>C (p.Trp6Arg)60684TRAPPC11Uncertain significance-1RCV001985450; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585036184585036TC184585036-
NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp)60684TRAPPC11Uncertain significancers532605756RCV001345609; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585063184585063CT184585063-
NM_021942.6(TRAPPC11):c.44G>A (p.Arg15Gln)60684TRAPPC11Uncertain significancers368097747RCV001215616; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585064184585064GA4:g.184585064G>A-
NM_021942.6(TRAPPC11):c.49A>C (p.Met17Leu)60684TRAPPC11Uncertain significance-1RCV002029079; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585069184585069AC184585069-
NM_021942.6(TRAPPC11):c.66A>G (p.Leu22=)60684TRAPPC11Likely benignrs776826270RCV000525088; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585086184585086AG4:g.184585086A>GClinGen:CA3151472C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.75G>A (p.Leu25=)60684TRAPPC11Uncertain significancers1444239174RCV001051722; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585095184585095GA4:g.184585095G>A-
NM_021942.6(TRAPPC11):c.86A>G (p.Tyr29Cys)60684TRAPPC11Uncertain significancers1734703097RCV001054396; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585106184585106AG4:g.184585106A>G-
NM_021942.6(TRAPPC11):c.96C>G (p.Val32=)60684TRAPPC11Likely benignrs774010916RCV000973829|RCV001497106; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585116184585116CG4:g.184585116C>G-
NM_021942.6(TRAPPC11):c.100C>A (p.Arg34=)60684TRAPPC11Likely benign-1RCV001470361; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585120184585120CA184585120-
NM_021942.6(TRAPPC11):c.106G>A (p.Val36Ile)60684TRAPPC11Uncertain significance-1RCV001884868; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585126184585126GA184585126-
NM_021942.6(TRAPPC11):c.106G>C (p.Val36Leu)60684TRAPPC11Uncertain significance-1RCV001872971; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585126184585126GC184585126-
NM_021942.6(TRAPPC11):c.114C>T (p.Asp38=)60684TRAPPC11Likely benign-1RCV001467100; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585134184585134CT184585134-
NM_021942.6(TRAPPC11):c.117C>G (p.Ala39=)60684TRAPPC11Benign/Likely benignrs145842147RCV000249846|RCV000651618|RCV001081295; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585137184585137CGNC_000004.11:g.184585137C>GClinGen:CA3151483C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.130C>T (p.Arg44Trp)60684TRAPPC11Uncertain significance-1RCV001757892|RCV001882827; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585150184585150CT184585150-
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)60684TRAPPC11Pathogenicrs150331292RCV000416446; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585162184585162CT4:g.184585162C>TClinGen:CA16044220C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.142C>G (p.Arg48Gly)60684TRAPPC11Uncertain significancers150331292RCV001241969; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585162184585162CG4:g.184585162C>G-
NM_021942.6(TRAPPC11):c.143G>A (p.Arg48Gln)60684TRAPPC11Uncertain significancers1473309875RCV000696131; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585163184585163GA4:g.184585163G>A-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu)60684TRAPPC11Benignrs141909783RCV000242200|RCV000530759|RCV000993344; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184585165184585165GC4:g.184585165G>CClinGen:CA3151491C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.150A>G (p.Pro50=)60684TRAPPC11Likely benign-1RCV002076776; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585170184585170AG184585170-
NM_021942.6(TRAPPC11):c.151A>G (p.Ile51Val)60684TRAPPC11Uncertain significancers141053214RCV001056164; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585171184585171AG4:g.184585171A>G-
NM_021942.6(TRAPPC11):c.161A>G (p.Lys54Arg)60684TRAPPC11Uncertain significance-1RCV001733715; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585181184585181AG184585181-
NM_021942.6(TRAPPC11):c.183G>A (p.Glu61=)60684TRAPPC11Likely benignrs144878889RCV000966650|RCV002066400; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585203184585203GA4:g.184585203G>A-
NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu)60684TRAPPC11Uncertain significancers1734713616RCV001337449; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585210184585210AG184585210-
NM_021942.6(TRAPPC11):c.204+1G>C60684TRAPPC11Likely pathogenicrs1734714805RCV001223573; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585225184585225GC4:g.184585225G>C-
NM_021942.6(TRAPPC11):c.204+7G>T60684TRAPPC11Likely benign-1RCV002149646; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585231184585231GT184585231-
NM_021942.6(TRAPPC11):c.204+17G>A60684TRAPPC11Benign/Likely benignrs200658266RCV000251755|RCV002058314; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184585241184585241GA4:g.184585241G>AClinGen:CA3151502CN169374 not specified;
NM_021942.6(TRAPPC11):c.205-10A>G60684TRAPPC11Uncertain significancers746348297RCV000596084|RCV001854059; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587400184587400AG4:g.184587400A>GClinGen:CA3151530CN169374 not specified;
NM_021942.6(TRAPPC11):c.205-10A>T60684TRAPPC11Likely benign-1RCV001501574; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587400184587400AT184587400-
NM_021942.6(TRAPPC11):c.211T>C (p.Ser71Pro)60684TRAPPC11Uncertain significancers1734877199RCV001217323; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587416184587416TC4:g.184587416T>C-
NM_021942.6(TRAPPC11):c.212C>T (p.Ser71Leu)60684TRAPPC11Uncertain significance-1RCV001912774; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587417184587417CT184587417-
NM_021942.6(TRAPPC11):c.219G>C (p.Glu73Asp)60684TRAPPC11Benign/Likely benignrs138760818RCV000242095|RCV000543943|RCV001558527; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184587424184587424GCNC_000004.11:g.184587424G>CClinGen:CA3151533C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.219G>T (p.Glu73Asp)60684TRAPPC11Uncertain significance-1RCV001942483; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587424184587424GT184587424-
NM_021942.6(TRAPPC11):c.222G>T (p.Trp74Cys)60684TRAPPC11Uncertain significance-1RCV001941419; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587427184587427GT184587427-
NM_021942.6(TRAPPC11):c.225C>T (p.Tyr75=)60684TRAPPC11Likely benign-1RCV002168127; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587430184587430CT184587430-
NM_021942.6(TRAPPC11):c.226A>G (p.Ile76Val)60684TRAPPC11Uncertain significance-1RCV002025597; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587431184587431AG184587431-
NM_021942.6(TRAPPC11):c.248C>G (p.Thr83Ser)60684TRAPPC11Uncertain significancers1024182354RCV000518291|RCV001364831; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587453184587453CG4:g.184587453C>GClinGen:CA111834994CN169374 not specified;
NM_021942.6(TRAPPC11):c.270G>C (p.Leu90=)60684TRAPPC11Benign/Likely benignrs60142264RCV000540618|RCV001546278|RCV001662591; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202|MedGen:CN1693744184587475184587475GC4:g.184587475G>CClinGen:CA3151540C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.270G>A (p.Leu90=)60684TRAPPC11Likely benign-1RCV001432889; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587475184587475GA184587475-
NM_021942.6(TRAPPC11):c.276G>A (p.Leu92=)60684TRAPPC11Likely benign-1RCV001493444; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587481184587481GA184587481-
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=)60684TRAPPC11Likely benignrs148105529RCV000249257|RCV000529135|RCV001552666; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184587487184587487AC4:g.184587487A>CClinGen:CA3151542C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.284C>T (p.Ala95Val)60684TRAPPC11Uncertain significancers868075355RCV001214164; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587489184587489CT4:g.184587489C>T-
NM_021942.6(TRAPPC11):c.297G>A (p.Val99=)60684TRAPPC11Likely benignrs756264295RCV000906981; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587502184587502GA4:g.184587502G>A-
NM_021942.6(TRAPPC11):c.349T>C (p.Cys117Arg)60684TRAPPC11Uncertain significance-1RCV002005520; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587554184587554TC184587554-
NM_021942.6(TRAPPC11):c.351C>T (p.Cys117=)60684TRAPPC11Likely benignrs372764730RCV000993348|RCV001454148; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587556184587556CT4:g.184587556C>T-
NM_021942.6(TRAPPC11):c.352G>A (p.Ala118Thr)60684TRAPPC11Uncertain significancers577423330RCV001068491; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587557184587557GA4:g.184587557G>A-
NM_021942.6(TRAPPC11):c.359G>A (p.Arg120Lys)60684TRAPPC11Uncertain significancers367769488RCV000809333; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587564184587564GA4:g.184587564G>A-
NM_021942.6(TRAPPC11):c.374+12T>A60684TRAPPC11Likely benign-1RCV002182207; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184587591184587591TA184587591-
NM_021942.6(TRAPPC11):c.375-8C>T60684TRAPPC11Likely benignrs750824619RCV000651614; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588205184588205CT4:g.184588205C>TClinGen:CA3151567C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.375-3C>T60684TRAPPC11Uncertain significance-1RCV001370006; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588210184588210CT184588210-
NM_021942.6(TRAPPC11):c.386A>G (p.Gln129Arg)60684TRAPPC11Uncertain significancers1734920268RCV001066393; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588224184588224AG4:g.184588224A>G-
NM_021942.6(TRAPPC11):c.399A>G (p.Thr133=)60684TRAPPC11Likely benignrs774078744RCV000876904; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588237184588237AG4:g.184588237A>G-
NM_021942.6(TRAPPC11):c.404T>A (p.Val135Asp)60684TRAPPC11Conflicting interpretations of pathogenicity-1RCV001559467|RCV002032634; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588242184588242TA184588242-
NM_021942.6(TRAPPC11):c.405T>G (p.Val135=)60684TRAPPC11Likely benignrs375901783RCV000908553; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588243184588243TG4:g.184588243T>G-
NM_021942.6(TRAPPC11):c.407C>T (p.Ala136Val)60684TRAPPC11Uncertain significancers1472931579RCV000814423; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588245184588245CT4:g.184588245C>T-
NM_021942.6(TRAPPC11):c.408A>G (p.Ala136=)60684TRAPPC11Likely benign-1RCV001493754; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588246184588246AG184588246-
NM_021942.6(TRAPPC11):c.421C>A (p.Gln141Lys)60684TRAPPC11Uncertain significancers1734921670RCV001067221; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588259184588259CA4:g.184588259C>A-
NM_021942.6(TRAPPC11):c.432C>T (p.Thr144=)60684TRAPPC11Likely benignrs1579160317RCV000975722; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588270184588270CT4:g.184588270C>T-
NM_021942.6(TRAPPC11):c.433C>G (p.Pro145Ala)60684TRAPPC11Uncertain significancers747596215RCV000812530; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588271184588271CG4:g.184588271C>G-
NM_021942.6(TRAPPC11):c.445+8A>C60684TRAPPC11Likely benign-1RCV002122312; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588291184588291AC184588291-
NM_021942.6(TRAPPC11):c.445+10G>A60684TRAPPC11Likely benignrs371903617RCV000873753; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588293184588293GA4:g.184588293G>A-
NM_021942.6(TRAPPC11):c.445+19A>G60684TRAPPC11Likely benign-1RCV002210522; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184588302184588302AG184588302-
NM_021942.6(TRAPPC11):c.446-6C>T60684TRAPPC11Uncertain significancers201044687RCV001221456; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589150184589150CT4:g.184589150C>T-
NM_021942.6(TRAPPC11):c.450A>G (p.Glu150=)60684TRAPPC11Likely benign-1RCV001473778; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589160184589160AG184589160-
NM_021942.6(TRAPPC11):c.451G>A (p.Asp151Asn)60684TRAPPC11Uncertain significance-1RCV001930389; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589161184589161GA184589161-
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu)60684TRAPPC11Likely pathogenicrs868721699RCV000985111; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589174184589174CT4:g.184589174C>T-
NM_021942.6(TRAPPC11):c.465A>C (p.Ser155=)60684TRAPPC11Likely benign-1RCV001428873; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589175184589175AC184589175-
NM_021942.6(TRAPPC11):c.468A>G (p.Glu156=)60684TRAPPC11Likely benignrs745593996RCV000877631; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589178184589178AG4:g.184589178A>G-
NM_021942.6(TRAPPC11):c.487A>G (p.Asn163Asp)60684TRAPPC11Uncertain significancers775567168RCV001339848; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589197184589197AG184589197-
NM_021942.6(TRAPPC11):c.503C>T (p.Ser168Leu)60684TRAPPC11Uncertain significance-1RCV002024685; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589213184589213CT184589213-
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs)60684TRAPPC11Pathogenic-1RCV001783900; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589221184589224GTCTTG184589220-
NM_021942.6(TRAPPC11):c.512C>A (p.Ser171Tyr)60684TRAPPC11Uncertain significancers1328868472RCV001055750; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589222184589222CA4:g.184589222C>A-
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs)60684TRAPPC11Pathogenicrs771717941RCV001336555; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589223184589226CTTTGC184589222-
NM_021942.6(TRAPPC11):c.525G>A (p.Leu175=)60684TRAPPC11Likely benign-1RCV001441046; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589235184589235GA184589235-
NM_021942.6(TRAPPC11):c.528G>C (p.Pro176=)60684TRAPPC11Likely benignrs766450086RCV000979897|RCV001448441; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589238184589238GC4:g.184589238G>C-
NM_021942.6(TRAPPC11):c.528G>A (p.Pro176=)60684TRAPPC11Likely benign-1RCV002103591; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589238184589238GA184589238-
NM_021942.6(TRAPPC11):c.552T>C (p.Tyr184=)60684TRAPPC11Likely benign-1RCV001402035; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589262184589262TC184589262-
NM_021942.6(TRAPPC11):c.560+7A>G60684TRAPPC11Likely benign-1RCV002099847; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184589277184589277AG184589277-
NM_021942.6(TRAPPC11):c.561-11G>A60684TRAPPC11Benign-1RCV002132204; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595855184595855GA184595855-
NM_021942.6(TRAPPC11):c.561-10T>C60684TRAPPC11Likely benign-1RCV001497401; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595856184595856TC184595856-
NM_021942.6(TRAPPC11):c.562T>C (p.Leu188=)60684TRAPPC11Likely benignrs767836308RCV000874276; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595867184595867TC4:g.184595867T>C-
NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly)60684TRAPPC11Uncertain significancers1554007320RCV000662049; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595886184595886AG4:g.184595886A>G-C4517996 Autosomal recessive limb girdle muscular dystrophy type 2S;
NM_021942.6(TRAPPC11):c.585T>G (p.His195Gln)60684TRAPPC11Uncertain significancers1411666786RCV000688244; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595890184595890TG4:g.184595890T>G-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.619G>A (p.Val207Met)60684TRAPPC11Uncertain significancers201181808RCV000697544; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595924184595924GA4:g.184595924G>A-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.630_631del (p.His210fs)60684TRAPPC11Pathogenic-1RCV001927055; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595934184595935CATC184595933-
NM_021942.6(TRAPPC11):c.642G>T (p.Leu214Phe)60684TRAPPC11Uncertain significancers1579173461RCV001040924; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595947184595947GT4:g.184595947G>T-
NM_021942.6(TRAPPC11):c.659A>T (p.Gln220Leu)60684TRAPPC11Uncertain significancers1561035054RCV000698646; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595964184595964AT4:g.184595964A>T-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.660+3G>A60684TRAPPC11Conflicting interpretations of pathogenicityrs377549138RCV000705918|RCV001546854; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184595968184595968GA4:g.184595968G>A-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.660+4C>T60684TRAPPC11Uncertain significancers559118514RCV000651601; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595969184595969CT4:g.184595969C>TClinGen:CA3151644C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.660+5G>T60684TRAPPC11Uncertain significancers770891745RCV001068260; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595970184595970GT4:g.184595970G>T-
NM_021942.6(TRAPPC11):c.660+5G>A60684TRAPPC11Uncertain significancers770891745RCV001047323; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595970184595970GA4:g.184595970G>A-
NM_021942.6(TRAPPC11):c.660+9T>C60684TRAPPC11Likely benign-1RCV001442128; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184595974184595974TC184595974-
NM_021942.6(TRAPPC11):c.660+18A>G60684TRAPPC11Benign/Likely benign-1RCV001512034|RCV001581165; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184595983184595983AG184595983-
NM_021942.6(TRAPPC11):c.661-20A>T60684TRAPPC11Likely benign-1RCV002128833; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596297184596297AT184596297-
NM_021942.6(TRAPPC11):c.661-13del60684TRAPPC11Benign-1RCV002110197; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596298184596298ATA184596297-
NM_021942.6(TRAPPC11):c.661-8C>T60684TRAPPC11Likely benign-1RCV001428426; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596309184596309CT184596309-
NM_021942.6(TRAPPC11):c.661-3del60684TRAPPC11Benignrs140871779RCV000243406|RCV001510409|RCV001660347; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184596310184596310CTCNC_000004.11:g.184596314delClinGen:CA3151671CN169374 not specified;
NM_021942.6(TRAPPC11):c.661-1G>T60684TRAPPC11Pathogenicrs886041052RCV000258796; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596316184596316GTNC_000004.11:g.184596316G>TClinGen:CA10602644,OMIM:614138.0003C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.675G>A (p.Arg225=)60684TRAPPC11Benignrs73872657RCV000537391|RCV001662592|RCV001675927; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN169374|MedGen:CN5172024184596331184596331GANC_000004.11:g.184596331G>AClinGen:CA3151674C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.701G>A (p.Ser234Asn)60684TRAPPC11Uncertain significancers1735354186RCV001345019; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596357184596357GA184596357-
NM_021942.6(TRAPPC11):c.702T>C (p.Ser234=)60684TRAPPC11Likely benign-1RCV001431296; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596358184596358TC184596358-
NM_021942.6(TRAPPC11):c.706T>A (p.Leu236Met)60684TRAPPC11Uncertain significance-1RCV001893988; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596362184596362TA184596362-
NM_021942.6(TRAPPC11):c.706T>C (p.Leu236=)60684TRAPPC11Likely benign-1RCV001975375; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596362184596362TC184596362-
NM_021942.6(TRAPPC11):c.713A>C (p.Gln238Pro)60684TRAPPC11Uncertain significance-1RCV001872307; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596369184596369AC184596369-
NM_021942.6(TRAPPC11):c.723A>G (p.Gln241=)60684TRAPPC11Likely benign-1RCV001436482; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596379184596379AG184596379-
NM_021942.6(TRAPPC11):c.729G>A (p.Ala243=)60684TRAPPC11Likely benign-1RCV002081898; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596385184596385GA184596385-
NM_021942.6(TRAPPC11):c.734+13T>G60684TRAPPC11Likely benign-1RCV002120021; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596403184596403TG184596403-
NM_021942.6(TRAPPC11):c.734+15C>T60684TRAPPC11Likely benign-1RCV002168497; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596405184596405CT184596405-
NM_021942.6(TRAPPC11):c.734+17A>G60684TRAPPC11Benign-1RCV002118820; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184596407184596407AG184596407-
NM_021942.6(TRAPPC11):c.735-12C>T60684TRAPPC11Likely benign-1RCV002187126; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598599184598599CT184598599-
NM_021942.6(TRAPPC11):c.735-2A>G60684TRAPPC11Uncertain significancers1554007706RCV000651606; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598609184598609AG4:g.184598609A>GClinGen:CA358861774C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.737A>G (p.Asn246Ser)60684TRAPPC11Uncertain significancers1414459418RCV001309317; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598613184598613AG184598613-
NM_021942.6(TRAPPC11):c.743G>C (p.Arg248Thr)60684TRAPPC11Uncertain significancers1441893342RCV000651610; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598619184598619GC4:g.184598619G>CClinGen:CA358861799C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.747C>T (p.Thr249=)60684TRAPPC11Likely benignrs540347620RCV000879473|RCV001471939; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598623184598623CT4:g.184598623C>T-
NM_021942.6(TRAPPC11):c.748G>A (p.Ala250Thr)60684TRAPPC11Uncertain significancers368397954RCV001344008; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598624184598624GA184598624-
NM_021942.6(TRAPPC11):c.760G>A (p.Val254Ile)60684TRAPPC11Uncertain significancers759142358RCV001325785; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598636184598636GA184598636-
NM_021942.6(TRAPPC11):c.763C>T (p.His255Tyr)60684TRAPPC11Uncertain significancers1237348034RCV001239141; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598639184598639CT4:g.184598639C>T-
NM_021942.6(TRAPPC11):c.765C>T (p.His255=)60684TRAPPC11Likely benignrs767131430RCV000910336; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598641184598641CT4:g.184598641C>T-
NM_021942.6(TRAPPC11):c.770T>G (p.Leu257Trp)60684TRAPPC11Uncertain significance-1RCV001948315; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598646184598646TG184598646-
NM_021942.6(TRAPPC11):c.778C>G (p.His260Asp)60684TRAPPC11Uncertain significance-1RCV001942702; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598654184598654CG184598654-
NM_021942.6(TRAPPC11):c.779A>G (p.His260Arg)60684TRAPPC11Uncertain significancers764083534RCV000651600; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598655184598655AG4:g.184598655A>GClinGen:CA3151705C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.784A>G (p.Thr262Ala)60684TRAPPC11Uncertain significance-1RCV001922296; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598660184598660AG184598660-
NM_021942.6(TRAPPC11):c.829A>G (p.Lys277Glu)60684TRAPPC11Uncertain significancers368689327RCV001036881; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184598705184598705AG4:g.184598705A>G-
NM_021942.6(TRAPPC11):c.832-16A>G60684TRAPPC11Uncertain significance-1RCV001952340; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600490184600490AG184600490-
NM_021942.6(TRAPPC11):c.832-9A>G60684TRAPPC11Benign/Likely benignrs114748616RCV000517840|RCV000525876|RCV001591174; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184600497184600497AG4:g.184600497A>GClinGen:CA3151723C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.832-3C>A60684TRAPPC11Uncertain significancers368922437RCV000550013; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600503184600503CANC_000004.11:g.184600503C>AClinGen:CA3151724C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.855C>T (p.His285=)60684TRAPPC11Likely benignrs139419771RCV000922731; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600529184600529CT4:g.184600529C>T-
NM_021942.6(TRAPPC11):c.855C>A (p.His285Gln)60684TRAPPC11Uncertain significancers139419771RCV001339399; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600529184600529CA184600529-
NM_021942.6(TRAPPC11):c.861C>T (p.Thr287=)60684TRAPPC11Likely benign-1RCV002090323; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600535184600535CT184600535-
NM_021942.6(TRAPPC11):c.885C>T (p.Phe295=)60684TRAPPC11Likely benignrs371401679RCV000944705|RCV001414043; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600559184600559CT4:g.184600559C>T-
NM_021942.6(TRAPPC11):c.897C>A (p.Ile299=)60684TRAPPC11Benignrs62357990RCV000248348|RCV001517374|RCV001722341; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184600571184600571CA4:g.184600571C>AClinGen:CA3151737CN169374 not specified;
NM_021942.6(TRAPPC11):c.897C>T (p.Ile299=)60684TRAPPC11Likely benign-1RCV002150746; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600571184600571CT184600571-
NM_021942.6(TRAPPC11):c.898G>A (p.Asp300Asn)60684TRAPPC11Uncertain significance-1RCV001971314; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600572184600572GA184600572-
NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val)60684TRAPPC11Uncertain significancers768253464RCV000651611|RCV001756096; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184600573184600573ATNC_000004.11:g.184600573A>TClinGen:CA3151739C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp)60684TRAPPC11Uncertain significancers1554007926RCV000626270; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600576184600576TG4:g.184600576T>GClinGen:CA358862288C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.918T>C (p.Ile306=)60684TRAPPC11Likely benign-1RCV001423224; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600592184600592TC184600592-
NM_021942.6(TRAPPC11):c.918T>G (p.Ile306Met)60684TRAPPC11Uncertain significance-1RCV001878357; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600592184600592TG184600592-
NM_021942.6(TRAPPC11):c.927A>G (p.Ala309=)60684TRAPPC11Benignrs4241779RCV000252950|RCV000829968|RCV001510410; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600601184600601AGNC_000004.11:g.184600601A>GClinGen:CA3151745CN169374 not specified;
NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val)60684TRAPPC11Conflicting interpretations of pathogenicityrs148833310RCV000518737|RCV000538180|RCV001084206; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600605184600605CGNC_000004.11:g.184600605C>GClinGen:CA3151746C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.942G>A (p.Glu314=)60684TRAPPC11Likely benign-1RCV002142272; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600616184600616GA184600616-
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg)60684TRAPPC11Likely benignrs533000838RCV000952134; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600618184600618AG4:g.184600618A>G-
NM_021942.6(TRAPPC11):c.948T>G (p.Asp316Glu)60684TRAPPC11Uncertain significancers1327422485RCV001301729; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600622184600622TG184600622-
NM_021942.6(TRAPPC11):c.960T>C (p.Ser320=)60684TRAPPC11Likely benign-1RCV002134151; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600634184600634TC184600634-
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter)60684TRAPPC11Likely pathogenicrs1483190866RCV000760888|RCV001784373; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600638184600638CTNC_000004.11:g.184600638C>T-
NM_021942.6(TRAPPC11):c.965+5G>T60684TRAPPC11Uncertain significancers758780741RCV000555334; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184600644184600644GT4:g.184600644G>TClinGen:CA3151753C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.966-10T>C60684TRAPPC11Likely benign-1RCV001447504; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601263184601263TC184601263-
NM_021942.6(TRAPPC11):c.974C>A (p.Ala325Asp)60684TRAPPC11Uncertain significancers775652273RCV000527797; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601281184601281CANC_000004.11:g.184601281C>AClinGen:CA3151765C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.989T>C (p.Phe330Ser)60684TRAPPC11Uncertain significancers1424040999RCV001209520; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601296184601296TC4:g.184601296T>C-
NM_021942.6(TRAPPC11):c.1005G>A (p.Lys335=)60684TRAPPC11Likely benign-1RCV002220503; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601312184601312GA184601312-
NM_021942.6(TRAPPC11):c.1043T>G (p.Phe348Cys)60684TRAPPC11Uncertain significancers1735605499RCV001244115; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601350184601350TG4:g.184601350T>G-
NM_021942.6(TRAPPC11):c.1046A>G (p.Tyr349Cys)60684TRAPPC11Uncertain significance-1RCV002042172; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601353184601353AG184601353-
NM_021942.6(TRAPPC11):c.1051C>T (p.Gln351Ter)60684TRAPPC11Pathogenic-1RCV001942047; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601358184601358CT184601358-
NM_021942.6(TRAPPC11):c.1055A>G (p.Gln352Arg)60684TRAPPC11Uncertain significancers780363437RCV000815468|RCV000998325; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184601362184601362AG4:g.184601362A>G-
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)60684TRAPPC11Uncertain significancers200078740RCV001306714|RCV001760365; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184601365184601365CG184601365-
NM_021942.6(TRAPPC11):c.1074G>T (p.Gln358His)60684TRAPPC11Uncertain significancers1735607583RCV001233159; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601381184601381GT4:g.184601381G>T-
NM_021942.6(TRAPPC11):c.1077G>A (p.Glu359=)60684TRAPPC11Likely benign-1RCV001496617; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601384184601384GA184601384-
NM_021942.6(TRAPPC11):c.1085A>T (p.Gln362Leu)60684TRAPPC11Uncertain significance-1RCV002003174; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601392184601392AT184601392-
NM_021942.6(TRAPPC11):c.1110C>T (p.His370=)60684TRAPPC11Likely benign-1RCV001466738; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601417184601417CT184601417-
NM_021942.6(TRAPPC11):c.1113+2T>G60684TRAPPC11Likely pathogenic-1RCV001783901; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601422184601422TG184601422-
NM_021942.6(TRAPPC11):c.1113+16C>T60684TRAPPC11Likely benign-1RCV002110495; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601436184601436CT184601436-
NM_021942.6(TRAPPC11):c.1113+17G>A60684TRAPPC11Likely benign-1RCV002117449; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601437184601437GA184601437-
NM_021942.6(TRAPPC11):c.1113+19A>G60684TRAPPC11Likely benign-1RCV002106166; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184601439184601439AG184601439-
NM_021942.6(TRAPPC11):c.1114-3C>T60684TRAPPC11Uncertain significancers1579187262RCV000814421; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603882184603882CT4:g.184603882C>T-
NM_021942.6(TRAPPC11):c.1133A>G (p.Asn378Ser)60684TRAPPC11Uncertain significancers780991425RCV000542350; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603904184603904AG4:g.184603904A>GClinGen:CA3151807C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1162G>A (p.Val388Ile)60684TRAPPC11Uncertain significancers925965846RCV000808656; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603933184603933GA4:g.184603933G>A-
NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu)60684TRAPPC11Uncertain significancers1328121937RCV001056789; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603941184603941CG4:g.184603941C>G-
NM_021942.6(TRAPPC11):c.1173T>C (p.Phe391=)60684TRAPPC11Likely benign-1RCV002124140; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603944184603944TC184603944-
NM_021942.6(TRAPPC11):c.1176T>C (p.Tyr392=)60684TRAPPC11Likely benign-1RCV001394942; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603947184603947TC184603947-
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter)60684TRAPPC11Pathogenic/Likely pathogenicrs140403642RCV000554957|RCV000825637; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|Human Phenotype Ontology:HP:0006785,Human Phenotype Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353, Orphanet:2634184603963184603963CTNC_000004.11:g.184603963C>TClinGen:CA3151816C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1193G>A (p.Arg398Gln)60684TRAPPC11Uncertain significancers745588857RCV000822559; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603964184603964GA4:g.184603964G>A-
NM_021942.6(TRAPPC11):c.1198G>A (p.Gly400Arg)60684TRAPPC11Uncertain significancers947836057RCV001218824; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603969184603969GA4:g.184603969G>A-
NM_021942.6(TRAPPC11):c.1204C>T (p.Leu402=)60684TRAPPC11Likely benign-1RCV002092364; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603975184603975CT184603975-
NM_021942.6(TRAPPC11):c.1207+1G>C60684TRAPPC11Likely pathogenicrs1735767573RCV001233161; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603979184603979GC4:g.184603979G>C-
NM_021942.6(TRAPPC11):c.1207+15C>T60684TRAPPC11Likely benign-1RCV002137572; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184603993184603993CT184603993-
NM_021942.6(TRAPPC11):c.1208-5C>T60684TRAPPC11Likely benignrs185570336RCV000874418|RCV001310501; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184605123184605123CT4:g.184605123C>T-
NM_021942.6(TRAPPC11):c.1208-5C>G60684TRAPPC11Uncertain significancers185570336RCV000985235; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605123184605123CG4:g.184605123C>G-
NM_021942.6(TRAPPC11):c.1208-4G>A60684TRAPPC11Likely benignrs200618360RCV000952474; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605124184605124GA4:g.184605124G>A-
NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr)60684TRAPPC11Uncertain significancers375379302RCV000538855; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605140184605140CA4:g.184605140C>AClinGen:CA3151851C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1224T>C (p.Asp408=)60684TRAPPC11Likely benignrs1023182753RCV000898174; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605144184605144TC4:g.184605144T>C-
NM_021942.6(TRAPPC11):c.1244G>A (p.Gly415Glu)60684TRAPPC11Uncertain significancers150383310RCV001231058; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605164184605164GA4:g.184605164G>A-
NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala)60684TRAPPC11Uncertain significancers201263451RCV000696431|RCV001552223; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184605197184605197TCNC_000004.11:g.184605197T>C-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1287+5G>A60684TRAPPC11Pathogenic/Likely pathogenicrs397509418RCV000054409|RCV000414573|RCV001254697; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138, Orphanet:5658374184605212184605212GA4:g.184605212G>AClinGen:CA144540,OMIM:614138.0002C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1287+10G>A60684TRAPPC11Benignrs190478555RCV000554600; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605217184605217GANC_000004.11:g.184605217G>AClinGen:CA3151860C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1287+17A>G60684TRAPPC11Likely benign-1RCV002187035; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605224184605224AG184605224-
NM_021942.6(TRAPPC11):c.1288-15T>C60684TRAPPC11Likely benign-1RCV002089798; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605283184605283TC184605283-
NM_021942.6(TRAPPC11):c.1288-5A>G60684TRAPPC11Likely benignrs774073046RCV000651616|RCV001729673; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184605293184605293AGNC_000004.11:g.184605293A>GClinGen:CA3151874C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1291_1297del (p.Glu430_Ile431insTer)60684TRAPPC11Pathogenic-1RCV001953797; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605301184605307GATAATCAG184605300-
NM_021942.6(TRAPPC11):c.1296C>T (p.Ile432=)60684TRAPPC11Likely benign-1RCV002146760; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605306184605306CT184605306-
NM_021942.6(TRAPPC11):c.1305T>A (p.Leu435=)60684TRAPPC11Likely benignrs373944670RCV000887532; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605315184605315TA4:g.184605315T>A-
NM_021942.6(TRAPPC11):c.1305T>G (p.Leu435=)60684TRAPPC11Likely benignrs373944670RCV000882132|RCV001474617; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605315184605315TG4:g.184605315T>G-
NM_021942.6(TRAPPC11):c.1306C>T (p.Leu436=)60684TRAPPC11Likely benign-1RCV002207577; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605316184605316CT184605316-
NM_021942.6(TRAPPC11):c.1337A>G (p.Tyr446Cys)60684TRAPPC11Uncertain significancers149572534RCV001246227; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605347184605347AG4:g.184605347A>G-
NM_021942.6(TRAPPC11):c.1337A>T (p.Tyr446Phe)60684TRAPPC11Uncertain significance-1RCV001913270; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605347184605347AT184605347-
NM_021942.6(TRAPPC11):c.1341G>A (p.Lys447=)60684TRAPPC11Likely benign-1RCV001392170; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605351184605351GA184605351-
NM_021942.6(TRAPPC11):c.1344C>T (p.Cys448=)60684TRAPPC11Likely benignrs147260246RCV000651617|RCV001079069; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605354184605354CT4:g.184605354C>TClinGen:CA3151884C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1346C>T (p.Pro449Leu)60684TRAPPC11Uncertain significance-1RCV001915363; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605356184605356CT184605356-
NM_021942.6(TRAPPC11):c.1347G>A (p.Pro449=)60684TRAPPC11Likely benignrs141205658RCV000651612; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605357184605357GA4:g.184605357G>AClinGen:CA3151886C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1366+17G>A60684TRAPPC11Benign/Likely benign-1RCV001568204|RCV002072183; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605393184605393GA184605393-
NM_021942.6(TRAPPC11):c.1367-20A>C60684TRAPPC11Likely benign-1RCV002076008; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605438184605438AC184605438-
NM_021942.6(TRAPPC11):c.1367-3T>C60684TRAPPC11Uncertain significancers1395631451RCV000651615; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605455184605455TCNC_000004.11:g.184605455T>CClinGen:CA556990468C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1381G>T (p.Glu461Ter)60684TRAPPC11Pathogenic-1RCV001967137; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605472184605472GT184605472-
NM_021942.6(TRAPPC11):c.1391A>G (p.Tyr464Cys)60684TRAPPC11Uncertain significancers1258652109RCV001245214; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605482184605482AG4:g.184605482A>G-
NM_021942.6(TRAPPC11):c.1395C>T (p.Tyr465=)60684TRAPPC11Likely benign-1RCV001437157; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605486184605486CT184605486-
NM_021942.6(TRAPPC11):c.1396G>A (p.Ala466Thr)60684TRAPPC11Uncertain significance-1RCV002000867; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605487184605487GA184605487-
NM_021942.6(TRAPPC11):c.1401G>A (p.Lys467=)60684TRAPPC11Likely benign-1RCV002120069; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605492184605492GA184605492-
NM_021942.6(TRAPPC11):c.1422-18C>T60684TRAPPC11Likely benign-1RCV002213546; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605831184605831CT184605831-
NM_021942.6(TRAPPC11):c.1422-10_1422-9del60684TRAPPC11Likely benign-1RCV002196456; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605838184605839GTCG184605837-
NM_021942.6(TRAPPC11):c.1422-10C>A60684TRAPPC11Uncertain significancers1735874596RCV001063697; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605839184605839CA4:g.184605839C>A-
NM_021942.6(TRAPPC11):c.1422-3G>A60684TRAPPC11Benign/Likely benignrs73872662RCV000530834|RCV001591285|RCV001662590; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN517202|MedGen:CN1693744184605846184605846GA4:g.184605846G>AClinGen:CA3151930C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1422G>T (p.Lys474Asn)60684TRAPPC11Uncertain significance-1RCV001359861; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605849184605849GT184605849-
NM_021942.6(TRAPPC11):c.1463G>T (p.Trp488Leu)60684TRAPPC11Uncertain significancers779673117RCV000812211; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605890184605890GT4:g.184605890G>T-
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter)60684TRAPPC11Pathogenic-1RCV002037649; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605893184605893GA184605893-
NM_021942.6(TRAPPC11):c.1492A>G (p.Thr498Ala)60684TRAPPC11Uncertain significance-1RCV001867442; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605919184605919AG184605919-
NM_021942.6(TRAPPC11):c.1497T>C (p.Ala499=)60684TRAPPC11Likely benign-1RCV002206576; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605924184605924TC184605924-
NM_021942.6(TRAPPC11):c.1503G>A (p.Lys501=)60684TRAPPC11Benignrs530411873RCV000945973; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605930184605930GA4:g.184605930G>A-
NM_021942.6(TRAPPC11):c.1507T>C (p.Ser503Pro)60684TRAPPC11Uncertain significance-1RCV001913505; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605934184605934TC184605934-
NM_021942.6(TRAPPC11):c.1512C>T (p.Tyr504=)60684TRAPPC11Likely benign-1RCV002213754; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605939184605939CT184605939-
NM_021942.6(TRAPPC11):c.1527A>G (p.Leu509=)60684TRAPPC11Likely benign-1RCV001493977; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605954184605954AG184605954-
NM_021942.6(TRAPPC11):c.1530G>T (p.Lys510Asn)60684TRAPPC11Uncertain significancers139154209RCV000805528|RCV001263378; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phe4184605957184605957GT4:g.184605957G>T-
NM_021942.6(TRAPPC11):c.1543T>C (p.Tyr515His)60684TRAPPC11Uncertain significancers901204498RCV000651602|RCV001756095; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184605970184605970TCNC_000004.11:g.184605970T>CClinGen:CA111850000C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1549C>T (p.Leu517=)60684TRAPPC11Likely benign-1RCV001440590; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605976184605976CT184605976-
NM_021942.6(TRAPPC11):c.1560T>A (p.Leu520=)60684TRAPPC11Uncertain significance-1RCV002013839; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184605987184605987TA184605987-
NM_021942.6(TRAPPC11):c.1568-1G>A60684TRAPPC11Likely pathogenicrs1180079162RCV000754740; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606236184606236GANC_000004.11:g.184606236G>A-
NM_021942.6(TRAPPC11):c.1568-1G>T60684TRAPPC11Pathogenicrs1180079162RCV001336033; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606236184606236GT184606236-
NM_021942.6(TRAPPC11):c.1585G>A (p.Asp529Asn)60684TRAPPC11Uncertain significancers1735897918RCV001307763; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606254184606254GA184606254-
NM_021942.6(TRAPPC11):c.1597C>T (p.Arg533Trp)60684TRAPPC11Uncertain significance-1RCV001958028; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606266184606266CT184606266-
NM_021942.6(TRAPPC11):c.1611C>T (p.Asn537=)60684TRAPPC11Likely benign-1RCV002117666; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606280184606280CT184606280-
NM_021942.6(TRAPPC11):c.1612C>T (p.Leu538Phe)60684TRAPPC11Uncertain significance-1RCV001965193; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606281184606281CT184606281-
NM_021942.6(TRAPPC11):c.1615A>G (p.Ile539Val)60684TRAPPC11Uncertain significancers1389363919RCV001344935; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606284184606284AG184606284-
NM_021942.6(TRAPPC11):c.1616T>A (p.Ile539Lys)60684TRAPPC11Uncertain significancers1554008768RCV000651608; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606285184606285TA4:g.184606285T>AClinGen:CA358867958C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1618A>G (p.Asn540Asp)60684TRAPPC11Uncertain significancers1561045163RCV000689942; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606287184606287AG4:g.184606287A>G-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1630-16C>T60684TRAPPC11Likely benign-1RCV002094332; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606408184606408CT184606408-
NM_021942.6(TRAPPC11):c.1632T>C (p.Asn544=)60684TRAPPC11Likely benign-1RCV002106689; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606426184606426TC184606426-
NM_021942.6(TRAPPC11):c.1639C>A (p.Pro547Thr)60684TRAPPC11Uncertain significance-1RCV002004572; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606433184606433CA184606433-
NM_021942.6(TRAPPC11):c.1650A>T (p.Glu550Asp)60684TRAPPC11Uncertain significance-1RCV001895353; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606444184606444AT184606444-
NM_021942.6(TRAPPC11):c.1654G>A (p.Asp552Asn)60684TRAPPC11Uncertain significancers374195797RCV000797982; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606448184606448GA4:g.184606448G>A-
NM_021942.6(TRAPPC11):c.1661A>G (p.Asp554Gly)60684TRAPPC11Uncertain significance-1RCV001914734; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606455184606455AG184606455-
NM_021942.6(TRAPPC11):c.1664T>A (p.Ile555Asn)60684TRAPPC11Uncertain significancers752315503RCV001067627; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606458184606458TA4:g.184606458T>A-
NM_021942.6(TRAPPC11):c.1670C>T (p.Ala557Val)60684TRAPPC11Uncertain significance-1RCV001954063; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606464184606464CT184606464-
NM_021942.6(TRAPPC11):c.1672G>C (p.Val558Leu)60684TRAPPC11Uncertain significance-1RCV001965761; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606466184606466GC184606466-
NM_021942.6(TRAPPC11):c.1703G>A (p.Arg568Gln)60684TRAPPC11Uncertain significancers147516606RCV000796438; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606497184606497GA4:g.184606497G>A-
NM_021942.6(TRAPPC11):c.1708T>C (p.Ser570Pro)60684TRAPPC11Uncertain significance-1RCV001369308; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606502184606502TC184606502-
NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val)60684TRAPPC11Uncertain significancers368529822RCV000543085; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606529184606529AGNC_000004.11:g.184606529A>GClinGen:CA111850434C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1745A>G (p.Gln582Arg)60684TRAPPC11Uncertain significance-1RCV001547162|RCV001882621; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606539184606539AG184606539-
NM_021942.6(TRAPPC11):c.1762+8G>A60684TRAPPC11Likely benignrs372102247RCV000873229|RCV001457249; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184606564184606564GA4:g.184606564G>A-
NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg)60684TRAPPC11Uncertain significancers146053783RCV001215623; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607774184607774AG4:g.184607774A>G-
NM_021942.6(TRAPPC11):c.1767G>T (p.Gln589His)60684TRAPPC11Uncertain significance-1RCV002042430; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607775184607775GT184607775-
NM_021942.6(TRAPPC11):c.1769G>A (p.Cys590Tyr)60684TRAPPC11Uncertain significance-1RCV001924436; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607777184607777GA184607777-
NM_021942.6(TRAPPC11):c.1784A>T (p.His595Leu)60684TRAPPC11Uncertain significance-1RCV002036421; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607792184607792AT184607792-
NM_021942.6(TRAPPC11):c.1793G>A (p.Ser598Asn)60684TRAPPC11Uncertain significancers1735985130RCV001038412; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607801184607801GA4:g.184607801G>A-
NM_021942.6(TRAPPC11):c.1803T>C (p.Val601=)60684TRAPPC11Likely benign-1RCV001450244; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607811184607811TC184607811-
NM_021942.6(TRAPPC11):c.1812T>C (p.Pro604=)60684TRAPPC11Likely benign-1RCV002122418; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607820184607820TC184607820-
NM_021942.6(TRAPPC11):c.1816C>A (p.Gln606Lys)60684TRAPPC11Uncertain significance-1RCV001888327; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607824184607824CA184607824-
NM_021942.6(TRAPPC11):c.1823A>G (p.Asp608Gly)60684TRAPPC11Uncertain significance-1RCV001976240; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607831184607831AG184607831-
NM_021942.6(TRAPPC11):c.1837G>C (p.Ala613Pro)60684TRAPPC11Uncertain significancers769979581RCV001203570; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607845184607845GC4:g.184607845G>C-
NM_021942.6(TRAPPC11):c.1848A>G (p.Pro616=)60684TRAPPC11Likely benign-1RCV001434685; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607856184607856AG184607856-
NM_021942.6(TRAPPC11):c.1893+3A>G60684TRAPPC11Pathogenicrs886041053RCV000258806; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607904184607904AGNC_000004.11:g.184607904A>GClinGen:CA10602645,OMIM:614138.0004C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1893+5T>A60684TRAPPC11Uncertain significancers1735992541RCV001219050; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607906184607906TA4:g.184607906T>A-
NM_021942.6(TRAPPC11):c.1893+6G>C60684TRAPPC11Uncertain significance-1RCV001891836; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607907184607907GC184607907-
NM_021942.6(TRAPPC11):c.1893+10C>T60684TRAPPC11Likely benign-1RCV002142489; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607911184607911CT184607911-
NM_021942.6(TRAPPC11):c.1893+14G>A60684TRAPPC11Likely benign-1RCV002074895; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184607915184607915GA184607915-
NC_000004.11:g.(?_184612449)_(184633797_?)dup60684TRAPPC11Uncertain significance-1RCV001943163; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612449184633797nana-1-
NM_021942.6(TRAPPC11):c.1894-18C>T60684TRAPPC11Likely benign-1RCV002138145; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612451184612451CT184612451-
NM_021942.6(TRAPPC11):c.1894-16del60684TRAPPC11Likely benign-1RCV002141995; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612453184612453CTC184612452-
NM_021942.6(TRAPPC11):c.1894-10C>T60684TRAPPC11Conflicting interpretations of pathogenicityrs111381550RCV000517286|RCV000651620|RCV001496199; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612459184612459CT4:g.184612459C>TClinGen:CA3152047C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1894-9C>T60684TRAPPC11Likely benign-1RCV002084872; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612460184612460CT184612460-
NM_021942.6(TRAPPC11):c.1894-7T>A60684TRAPPC11Likely benign-1RCV001406931; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612462184612462TA184612462-
NM_021942.6(TRAPPC11):c.1895A>G (p.Glu632Gly)60684TRAPPC11Uncertain significancers1027270333RCV000820200; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612470184612470AG4:g.184612470A>G-
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser)60684TRAPPC11Uncertain significancers148567547RCV000517869|RCV000560192; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612476184612476AGNC_000004.11:g.184612476A>GClinGen:CA3152050C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1923A>C (p.Glu641Asp)60684TRAPPC11Uncertain significancers772936022RCV001343740; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612498184612498AC184612498-
NM_021942.6(TRAPPC11):c.1934C>T (p.Ala645Val)60684TRAPPC11Uncertain significance-1RCV002008775; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612509184612509CT184612509-
NM_021942.6(TRAPPC11):c.1943T>C (p.Val648Ala)60684TRAPPC11Uncertain significance-1RCV001886577; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612518184612518TC184612518-
NM_021942.6(TRAPPC11):c.1977A>G (p.Leu659=)60684TRAPPC11Likely benign-1RCV001453542; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612552184612552AG184612552-
NM_021942.6(TRAPPC11):c.1978G>C (p.Val660Leu)60684TRAPPC11Benignrs67383011RCV000247199|RCV001521597|RCV001722339; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184612553184612553GCNC_000004.11:g.184612553G>CClinGen:CA3152060CN169374 not specified;
NM_021942.6(TRAPPC11):c.1981C>G (p.Pro661Ala)60684TRAPPC11Uncertain significancers764163856RCV001235710; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612556184612556CG4:g.184612556C>G-
NM_021942.6(TRAPPC11):c.1999C>T (p.Leu667=)60684TRAPPC11Likely benignrs185988689RCV000904457|RCV001412618; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612574184612574CT4:g.184612574C>T-
NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu)60684TRAPPC11Uncertain significancers1415116624RCV000814311; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612589184612589GC4:g.184612589G>C-
NM_021942.6(TRAPPC11):c.2023del (p.Thr675fs)60684TRAPPC11Likely pathogenic-1RCV001783902; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184612594184612594CAC184612593-
NM_021942.6(TRAPPC11):c.2050-17dup60684TRAPPC11Likely benign-1RCV002148714; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614094184614095TTC184614094-
NM_021942.6(TRAPPC11):c.2050-18C>T60684TRAPPC11Benign-1RCV002139754; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614095184614095CT184614095-
NM_021942.6(TRAPPC11):c.2050-16_2050-15insG60684TRAPPC11Likely benign-1RCV002161445; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614097184614098TTG184614097-
NM_021942.6(TRAPPC11):c.2050-13T>A60684TRAPPC11Likely benign-1RCV001959807; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614100184614100TA184614100-
NM_021942.6(TRAPPC11):c.2050-6T>C60684TRAPPC11Likely benign-1RCV002102214; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614107184614107TC184614107-
NM_021942.6(TRAPPC11):c.2050-3T>C60684TRAPPC11Uncertain significancers768168477RCV001299250; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614110184614110TC184614110-
NM_021942.6(TRAPPC11):c.2059_2064del (p.Val687_Asp688del)60684TRAPPC11Uncertain significance-1RCV001964051; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614122184614127AGTGGATA184614121-
NM_021942.6(TRAPPC11):c.2067T>C (p.Leu689=)60684TRAPPC11Likely benign-1RCV001489831; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614130184614130TC184614130-
NM_021942.6(TRAPPC11):c.2068G>C (p.Ala690Pro)60684TRAPPC11Uncertain significance-1RCV002048437; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614131184614131GC184614131-
NM_021942.6(TRAPPC11):c.2070T>C (p.Ala690=)60684TRAPPC11Likely benign-1RCV001433430; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614133184614133TC184614133-
NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val)60684TRAPPC11Uncertain significancers777107611RCV000695259; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614134184614134CGNC_000004.11:g.184614134C>G-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2077A>C (p.Asn693His)60684TRAPPC11Uncertain significance-1RCV001983829; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614140184614140AC184614140-
NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met)60684TRAPPC11Uncertain significancers759325090RCV000651604; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614147184614147CTNC_000004.11:g.184614147C>TClinGen:CA3152103C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2085G>A (p.Thr695=)60684TRAPPC11Likely benign-1RCV001503630; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614148184614148GA184614148-
NM_021942.6(TRAPPC11):c.2087G>A (p.Gly696Glu)60684TRAPPC11Uncertain significance-1RCV002032810|RCV001764870; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184614150184614150GA184614150-
NM_021942.6(TRAPPC11):c.2095G>A (p.Val699Met)60684TRAPPC11Uncertain significance-1RCV001362479; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614158184614158GA184614158-
NM_021942.6(TRAPPC11):c.2113G>A (p.Gly705Arg)60684TRAPPC11Uncertain significance-1RCV001948395; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614176184614176GA184614176-
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp)60684TRAPPC11Uncertain significancers139034513RCV001347802; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614208184614208AC184614208-
NM_021942.6(TRAPPC11):c.2146G>T (p.Ala716Ser)60684TRAPPC11Uncertain significance-1RCV001920300; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614209184614209GT184614209-
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)60684TRAPPC11Conflicting interpretations of pathogenicityrs143990563RCV000531617|RCV000858939; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184614210184614210CG4:g.184614210C>GClinGen:CA3152115C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2147C>A (p.Ala716Asp)60684TRAPPC11Uncertain significance-1RCV001881287; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614210184614210CA184614210-
NM_021942.6(TRAPPC11):c.2162G>A (p.Arg721Gln)60684TRAPPC11Uncertain significance-1RCV001951962; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614225184614225GA184614225-
NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs)60684TRAPPC11Pathogenicrs1554009901RCV000522192|RCV001055785; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614228184614229CCTNC_000004.11:g.184614231dupClinGen:CA658657408CN517202 not provided;
NM_021942.6(TRAPPC11):c.2169C>G (p.Phe723Leu)60684TRAPPC11Conflicting interpretations of pathogenicityrs146441514RCV000864624|RCV001084772; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614232184614232CG4:g.184614232C>G-
NM_021942.6(TRAPPC11):c.2177G>T (p.Arg726Leu)60684TRAPPC11Uncertain significance-1RCV001967629; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614240184614240GT184614240-
NM_021942.6(TRAPPC11):c.2180C>T (p.Pro727Leu)60684TRAPPC11Uncertain significance-1RCV001952105; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614243184614243CT184614243-
NM_021942.6(TRAPPC11):c.2187A>G (p.Leu729=)60684TRAPPC11Likely benign-1RCV002128894; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614250184614250AG184614250-
NM_021942.6(TRAPPC11):c.2196T>C (p.Asn732=)60684TRAPPC11Likely benignrs375844076RCV000876303|RCV001593106; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184614259184614259TC4:g.184614259T>C-
NM_021942.6(TRAPPC11):c.2216T>C (p.Ile739Thr)60684TRAPPC11Uncertain significance-1RCV002035580; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614279184614279TC184614279-
NM_021942.6(TRAPPC11):c.2218A>G (p.Ile740Val)60684TRAPPC11Uncertain significance-1RCV002041629; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614281184614281AG184614281-
NM_021942.6(TRAPPC11):c.2220A>G (p.Ile740Met)60684TRAPPC11Uncertain significance-1RCV001363845; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614283184614283AG184614283-
NM_021942.6(TRAPPC11):c.2229A>T (p.Ala743=)60684TRAPPC11Likely benign-1RCV002168550; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614292184614292AT184614292-
NM_021942.6(TRAPPC11):c.2231G>A (p.Ser744Asn)60684TRAPPC11Uncertain significancers1736342623RCV001327558; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614294184614294GA184614294-
NM_021942.6(TRAPPC11):c.2234C>A (p.Thr745Lys)60684TRAPPC11Uncertain significancers768000138RCV000703895|RCV000993345; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184614297184614297CA4:g.184614297C>A-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2234C>T (p.Thr745Ile)60684TRAPPC11Uncertain significance-1RCV001733716; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614297184614297CT184614297-
NM_021942.6(TRAPPC11):c.2237+8T>G60684TRAPPC11Likely benign-1RCV001492178; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614308184614308TG184614308-
NM_021942.6(TRAPPC11):c.2238-4A>G60684TRAPPC11Uncertain significancers1736369470RCV001344904; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614738184614738AG184614738-
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val)60684TRAPPC11Uncertain significancers368432060RCV000812412; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614746184614746AG4:g.184614746A>G-
NM_021942.6(TRAPPC11):c.2252T>G (p.Val751Gly)60684TRAPPC11Uncertain significancers1381726046RCV001342936; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614756184614756TG184614756-
NM_021942.6(TRAPPC11):c.2256A>G (p.Pro752=)60684TRAPPC11Likely benign-1RCV002114137; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614760184614760AG184614760-
NM_021942.6(TRAPPC11):c.2270A>G (p.His757Arg)60684TRAPPC11Uncertain significance-1RCV001900044; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614774184614774AG184614774-
NM_021942.6(TRAPPC11):c.2281dup (p.Glu761fs)60684TRAPPC11Pathogenic-1RCV001999917; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614784184614785TTG184614784-
NM_021942.6(TRAPPC11):c.2282A>T (p.Glu761Val)60684TRAPPC11Uncertain significancers1554009994RCV000556472; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614786184614786AT4:g.184614786A>TClinGen:CA358871228C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2284C>A (p.Pro762Thr)60684TRAPPC11Uncertain significance-1RCV002010204; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614788184614788CA184614788-
NM_021942.6(TRAPPC11):c.2286C>T (p.Pro762=)60684TRAPPC11Likely benignrs372771070RCV000876425|RCV001409466; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614790184614790CT4:g.184614790C>T-
NM_021942.6(TRAPPC11):c.2287C>T (p.Pro763Ser)60684TRAPPC11Likely benign-1RCV001434918; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614791184614791CT184614791-
NM_021942.6(TRAPPC11):c.2306T>C (p.Met769Thr)60684TRAPPC11Uncertain significancers1236250238RCV000805662; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614810184614810TC4:g.184614810T>C-
NM_021942.6(TRAPPC11):c.2307G>T (p.Met769Ile)60684TRAPPC11Uncertain significancers1554010022RCV000538046; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614811184614811GT4:g.184614811G>TClinGen:CA358871347C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2312G>A (p.Cys771Tyr)60684TRAPPC11Uncertain significancers1441521643RCV001223650; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614816184614816GA4:g.184614816G>A-
NM_021942.6(TRAPPC11):c.2328T>C (p.Val776=)60684TRAPPC11Likely benignrs1380950836RCV000920635|RCV001439501; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614832184614832TC4:g.184614832T>C-
NM_021942.6(TRAPPC11):c.2334C>T (p.Ser778=)60684TRAPPC11Likely benign-1RCV002085055; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614838184614838CT184614838-
NM_021942.6(TRAPPC11):c.2336A>G (p.His779Arg)60684TRAPPC11Uncertain significance-1RCV001986428; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614840184614840AG184614840-
NM_021942.6(TRAPPC11):c.2346C>A (p.Thr782=)60684TRAPPC11Likely benign-1RCV001447634; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614850184614850CA184614850-
NM_021942.6(TRAPPC11):c.2355A>G (p.Arg785=)60684TRAPPC11Likely benign-1RCV002089413; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614859184614859AG184614859-
NM_021942.6(TRAPPC11):c.2358T>C (p.Asp786=)60684TRAPPC11Likely benign-1RCV001478800; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614862184614862TC184614862-
NM_021942.6(TRAPPC11):c.2364G>A (p.Lys788=)60684TRAPPC11Likely benign-1RCV002122174; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614868184614868GA184614868-
NM_021942.6(TRAPPC11):c.2370C>T (p.Thr790=)60684TRAPPC11Benignrs4862234RCV000247514|RCV000829969|RCV001510411; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614874184614874CTNC_000004.11:g.184614874C>TClinGen:CA3152163CN169374 not specified;
NM_021942.6(TRAPPC11):c.2371G>T (p.Ala791Ser)60684TRAPPC11Uncertain significancers1302946870RCV001064779; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614875184614875GT4:g.184614875G>T-
NM_021942.6(TRAPPC11):c.2384C>T (p.Pro795Leu)60684TRAPPC11Uncertain significance-1RCV002009534; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184614888184614888CT184614888-
NM_021942.6(TRAPPC11):c.2387-16A>G60684TRAPPC11Likely benign-1RCV002095758; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615054184615054AG184615054-
NM_021942.6(TRAPPC11):c.2387-11A>G60684TRAPPC11Likely benign-1RCV002168217; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615059184615059AG184615059-
NM_021942.6(TRAPPC11):c.2387-8T>C60684TRAPPC11Likely benign-1RCV001427764; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615062184615062TC184615062-
NM_021942.6(TRAPPC11):c.2387-6T>C60684TRAPPC11Likely benign-1RCV002173943; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615064184615064TC184615064-
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=)60684TRAPPC11Conflicting interpretations of pathogenicityrs151021715RCV000252478|RCV000550686|RCV001083378; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615071184615071AC4:g.184615071A>CClinGen:CA3152182C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2389C>T (p.Gln797Ter)60684TRAPPC11Pathogenic-1RCV001956478; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615072184615072CT184615072-
NM_021942.6(TRAPPC11):c.2399A>G (p.Asn800Ser)60684TRAPPC11Uncertain significancers140915279RCV000701271; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615082184615082AG4:g.184615082A>G-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2418C>T (p.His806=)60684TRAPPC11Likely benignrs146402163RCV000951806; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615101184615101CT4:g.184615101C>T-
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met)60684TRAPPC11Uncertain significancers139113789RCV000558392|RCV001591286; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184615102184615102GA4:g.184615102G>AClinGen:CA3152190C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2429A>G (p.His810Arg)60684TRAPPC11Uncertain significancers1561053683RCV001341722; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615112184615112AG184615112-
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs)60684TRAPPC11Likely pathogenic-1RCV001783903; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615115184615119GGAACAG184615114-
NM_021942.6(TRAPPC11):c.2434A>C (p.Thr812Pro)60684TRAPPC11Benignrs62358032RCV000244013|RCV001514708|RCV001651245; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184615117184615117AC4:g.184615117A>CClinGen:CA3152195CN169374 not specified;
NM_021942.6(TRAPPC11):c.2449G>A (p.Glu817Lys)60684TRAPPC11Uncertain significance-1RCV001998996; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615132184615132GA184615132-
NM_021942.6(TRAPPC11):c.2458C>T (p.Pro820Ser)60684TRAPPC11Uncertain significancers767195120RCV001208861; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615141184615141CT4:g.184615141C>T-
NM_021942.6(TRAPPC11):c.2459C>T (p.Pro820Leu)60684TRAPPC11Uncertain significancers752479011RCV001303313; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615142184615142CT184615142-
NM_021942.6(TRAPPC11):c.2460G>A (p.Pro820=)60684TRAPPC11Uncertain significance-1RCV001945144; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615143184615143GA184615143-
NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr)60684TRAPPC11Benign/Likely benignrs114471872RCV000247359|RCV000534582|RCV001668577; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184615144184615144GANC_000004.11:g.184615144G>AClinGen:CA3152199C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2483T>C (p.Val828Ala)60684TRAPPC11Benignrs75176151RCV000252716|RCV000551458|RCV001083928; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615166184615166TC4:g.184615166T>CClinGen:CA3152203C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2489A>G (p.Asp830Gly)60684TRAPPC11Uncertain significancers200068440RCV001063790; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615172184615172AG4:g.184615172A>G-
NM_021942.6(TRAPPC11):c.2490C>T (p.Asp830=)60684TRAPPC11Likely benignrs1020680380RCV000904591|RCV001402823; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615173184615173CT4:g.184615173C>T-
NM_021942.6(TRAPPC11):c.2490C>G (p.Asp830Glu)60684TRAPPC11Uncertain significancers1020680380RCV001217157; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615173184615173CG4:g.184615173C>G-
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)60684TRAPPC11Conflicting interpretations of pathogenicityrs201868142RCV000887597|RCV001079068; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615191184615191GA4:g.184615191G>A-
NM_021942.6(TRAPPC11):c.2508+5A>G60684TRAPPC11Uncertain significancers1736402062RCV001057711; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615196184615196AG4:g.184615196A>G-
NM_021942.6(TRAPPC11):c.2508+15C>T60684TRAPPC11Likely benign-1RCV002110717; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615206184615206CT184615206-
NM_021942.6(TRAPPC11):c.2508+20A>T60684TRAPPC11Likely benign-1RCV002194396; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615211184615211AT184615211-
NM_021942.6(TRAPPC11):c.2509-20C>T60684TRAPPC11Likely benign-1RCV002138468; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615737184615737CT184615737-
NM_021942.6(TRAPPC11):c.2509-11T>C60684TRAPPC11Likely benign-1RCV002100217; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615746184615746TC184615746-
NM_021942.6(TRAPPC11):c.2513A>G (p.Glu838Gly)60684TRAPPC11Uncertain significancers1554010221RCV000527588; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615761184615761AGNC_000004.11:g.184615761A>GClinGen:CA358872173C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2525A>G (p.Tyr842Cys)60684TRAPPC11Uncertain significance-1RCV001978945; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615773184615773AG184615773-
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys)60684TRAPPC11Uncertain significancers149626892RCV000500950|RCV001211088|RCV001805119; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184615778184615778CT4:g.184615778C>TClinGen:CA3152224CN169374 not specified;
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser)60684TRAPPC11Uncertain significancers149626892RCV000693950; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615778184615778CANC_000004.11:g.184615778C>A-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2531G>A (p.Arg844His)60684TRAPPC11Uncertain significancers781082721RCV000793837; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615779184615779GA4:g.184615779G>A-
NM_021942.6(TRAPPC11):c.2531G>C (p.Arg844Pro)60684TRAPPC11Uncertain significance-1RCV001996401; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615779184615779GC184615779-
NM_021942.6(TRAPPC11):c.2531G>T (p.Arg844Leu)60684TRAPPC11Uncertain significance-1RCV001977746; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615779184615779GT184615779-
NM_021942.6(TRAPPC11):c.2540C>T (p.Thr847Ile)60684TRAPPC11Uncertain significancers578119880RCV000802251; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615788184615788CT4:g.184615788C>T-
NM_021942.6(TRAPPC11):c.2560C>A (p.Leu854Ile)60684TRAPPC11Uncertain significancers771646323RCV000692890; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615808184615808CANC_000004.11:g.184615808C>A-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2573C>T (p.Ser858Phe)60684TRAPPC11Uncertain significance-1RCV001897358; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615821184615821CT184615821-
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs)60684TRAPPC11Pathogenic-1RCV001785081; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615827184615827CTC184615826-
NM_021942.6(TRAPPC11):c.2592C>T (p.Thr864=)60684TRAPPC11Likely benignrs760413718RCV000651613; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615840184615840CTNC_000004.11:g.184615840C>TClinGen:CA3152235C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2615G>C (p.Cys872Ser)60684TRAPPC11Uncertain significance-1RCV001368491; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615863184615863GC184615863-
NM_021942.6(TRAPPC11):c.2619G>T (p.Lys873Asn)60684TRAPPC11Uncertain significancers1260523372RCV001210097; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615867184615867GT4:g.184615867G>T-
NM_021942.6(TRAPPC11):c.2625del (p.His875fs)60684TRAPPC11Pathogenicrs1736442342RCV001336034; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184615873184615873ACA184615872-
NM_021942.6(TRAPPC11):c.2628+10dup60684TRAPPC11Benignrs150593522RCV000547956|RCV001288529; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN1693744184615879184615880AATNC_000004.11:g.184615886dupClinGen:CA3152244C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2628+10del60684TRAPPC11Conflicting interpretations of pathogenicityrs150593522RCV000539882|RCV001080996|RCV001701081; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN1693744184615880184615880ATA4:g.184615880_184615880delClinGen:CA3152243C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2629-20C>T60684TRAPPC11Likely benign-1RCV002158303; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618636184618636CT184618636-
NM_021942.6(TRAPPC11):c.2629-8T>G60684TRAPPC11Likely benign-1RCV001467954; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618648184618648TG184618648-
NM_021942.6(TRAPPC11):c.2637T>G (p.Thr879=)60684TRAPPC11Conflicting interpretations of pathogenicityrs148799732RCV001222749|RCV001538497; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184618664184618664TG4:g.184618664T>G-
NM_021942.6(TRAPPC11):c.2638G>T (p.Val880Leu)60684TRAPPC11Uncertain significance-1RCV001890496; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618665184618665GT184618665-
NM_021942.6(TRAPPC11):c.2641A>G (p.Thr881Ala)60684TRAPPC11Uncertain significancers772814181RCV000651603; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618668184618668AGNC_000004.11:g.184618668A>GClinGen:CA3152264C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2643A>C (p.Thr881=)60684TRAPPC11Likely benign-1RCV002186257; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618670184618670AC184618670-
NM_021942.6(TRAPPC11):c.2645T>C (p.Ile882Thr)60684TRAPPC11Uncertain significancers763006851RCV001213491; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618672184618672TC4:g.184618672T>C-
NM_021942.6(TRAPPC11):c.2651C>T (p.Thr884Ile)60684TRAPPC11Uncertain significancers373484248RCV001063981; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618678184618678CT4:g.184618678C>T-
NM_021942.6(TRAPPC11):c.2656T>A (p.Phe886Ile)60684TRAPPC11Likely benignrs376514277RCV000873151; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618683184618683TA4:g.184618683T>A-
NM_021942.6(TRAPPC11):c.2661A>G (p.Pro887=)60684TRAPPC11Likely benign-1RCV002190524; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618688184618688AG184618688-
NM_021942.6(TRAPPC11):c.2672C>T (p.Ala891Val)60684TRAPPC11Uncertain significance-1RCV001365297; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618699184618699CT184618699-
NM_021942.6(TRAPPC11):c.2672C>G (p.Ala891Gly)60684TRAPPC11Uncertain significance-1RCV002003534; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618699184618699CG184618699-
NM_021942.6(TRAPPC11):c.2673G>A (p.Ala891=)60684TRAPPC11Uncertain significancers531748969RCV000802637; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618700184618700GA4:g.184618700G>A-
NM_021942.6(TRAPPC11):c.2678A>G (p.Lys893Arg)60684TRAPPC11Uncertain significancers759008736RCV000702624; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618705184618705AGNC_000004.11:g.184618705A>G-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2684T>C (p.Val895Ala)60684TRAPPC11Uncertain significancers200931036RCV000527219; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618711184618711TC4:g.184618711T>CClinGen:CA3152276C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2694+1G>T60684TRAPPC11Likely pathogenicrs1186858080RCV000539818; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618722184618722GTNC_000004.11:g.184618722G>TClinGen:CA358872791C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2694+14A>G60684TRAPPC11Likely benign-1RCV002093457; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618735184618735AG184618735-
NM_021942.6(TRAPPC11):c.2695-7G>T60684TRAPPC11Likely benignrs371163271RCV000873336|RCV001559528; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184618825184618825GT4:g.184618825G>T-
NM_021942.6(TRAPPC11):c.2696T>C (p.Phe899Ser)60684TRAPPC11Uncertain significancers777270916RCV000532867; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618833184618833TCNC_000004.11:g.184618833T>CClinGen:CA3152299C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2704C>T (p.Leu902=)60684TRAPPC11Likely benign-1RCV001425015; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618841184618841CT184618841-
NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly)60684TRAPPC11Uncertain significancers1398795151RCV000694435; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618845184618845AG4:g.184618845A>G-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2710A>G (p.Arg904Gly)60684TRAPPC11Uncertain significancers770747782RCV001232962; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618847184618847AG4:g.184618847A>G-
NM_021942.6(TRAPPC11):c.2712G>A (p.Arg904=)60684TRAPPC11Likely benign-1RCV001479892; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618849184618849GA184618849-
NM_021942.6(TRAPPC11):c.2744C>G (p.Thr915Arg)60684TRAPPC11Uncertain significancers200936990RCV000553276; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618881184618881CG4:g.184618881C>GClinGen:CA358873114C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2749C>T (p.Leu917Phe)60684TRAPPC11Uncertain significance-1RCV001947908; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618886184618886CT184618886-
NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn)60684TRAPPC11Uncertain significancers753388968RCV001211925; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618893184618893GA4:g.184618893G>A-
NM_021942.6(TRAPPC11):c.2761T>G (p.Ser921Ala)60684TRAPPC11Uncertain significance-1RCV001891553; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618898184618898TG184618898-
NM_021942.6(TRAPPC11):c.2768G>C (p.Trp923Ser)60684TRAPPC11Uncertain significancers1579213399RCV000794615; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618905184618905GC4:g.184618905G>C-
NM_021942.6(TRAPPC11):c.2773C>T (p.Leu925Phe)60684TRAPPC11Uncertain significance-1RCV001370456; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618910184618910CT184618910-
NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala)60684TRAPPC11Uncertain significancers1219763538RCV000651605; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618913184618913AG4:g.184618913A>GClinGen:CA358873256C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2778T>A (p.Thr926=)60684TRAPPC11Likely benign-1RCV002169612; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618915184618915TA184618915-
NM_021942.6(TRAPPC11):c.2782_2784del (p.Val928del)60684TRAPPC11Uncertain significance-1RCV001370420; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618917184618919ATTGA184618916-
NM_021942.6(TRAPPC11):c.2786C>G (p.Ser929Cys)60684TRAPPC11Uncertain significancers1275717721RCV001320457; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618923184618923CG184618923-
NM_021942.6(TRAPPC11):c.2788A>G (p.Ser930Gly)60684TRAPPC11Uncertain significancers1399140645RCV001350095; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618925184618925AG184618925-
NM_021942.6(TRAPPC11):c.2799G>C (p.Gln933His)60684TRAPPC11Benignrs62617790RCV000244729|RCV001513869|RCV001722340; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184618936184618936GC4:g.184618936G>CClinGen:CA3152315CN169374 not specified;
NM_021942.6(TRAPPC11):c.2817C>T (p.Thr939=)60684TRAPPC11Conflicting interpretations of pathogenicityrs778742385RCV000912765|RCV001415746; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618954184618954CT4:g.184618954C>T-
NM_021942.6(TRAPPC11):c.2823G>A (p.Val941=)60684TRAPPC11Likely benign-1RCV001484723; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618960184618960GA184618960-
NM_021942.6(TRAPPC11):c.2829G>A (p.Gln943=)60684TRAPPC11Likely benign-1RCV002144892; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618966184618966GA184618966-
NM_021942.6(TRAPPC11):c.2843T>G (p.Val948Gly)60684TRAPPC11Uncertain significancers1736618609RCV001299315; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618980184618980TG184618980-
NM_021942.6(TRAPPC11):c.2844G>A (p.Val948=)60684TRAPPC11Likely benignrs151179289RCV000900518; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618981184618981GA4:g.184618981G>A-
NM_021942.6(TRAPPC11):c.2849A>G (p.Asn950Ser)60684TRAPPC11Uncertain significancers202170132RCV001305005; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618986184618986AG184618986-
NM_021942.6(TRAPPC11):c.2850T>C (p.Asn950=)60684TRAPPC11Uncertain significancers376728526RCV001068490; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618987184618987TC4:g.184618987T>C-
NM_021942.6(TRAPPC11):c.2851+5G>A60684TRAPPC11Uncertain significancers373713956RCV000546293|RCV001799686; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184618993184618993GANC_000004.11:g.184618993G>AClinGen:CA3152332C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2851+7C>T60684TRAPPC11Likely benign-1RCV002185308; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184618995184618995CT184618995-
NM_021942.6(TRAPPC11):c.2851+29C>G60684TRAPPC11Benign-1RCV001656071|RCV001838727; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184619017184619017CG184619017-
NM_021942.6(TRAPPC11):c.2851+42GC[2]60684TRAPPC11Benign-1RCV001690181|RCV001838789; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184619030184619031TGCT184619029-
NM_021942.6(TRAPPC11):c.2851+46G>A60684TRAPPC11Benign-1RCV001668024|RCV001838759; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184619034184619034GA184619034-
NC_000004.11:g.(?_184622830)_(184633797_?)del60684TRAPPC11Pathogenic-1RCV001972464; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622830184633797nana-1-
NM_021942.6(TRAPPC11):c.2862G>A (p.Gln954=)60684TRAPPC11Likely benign-1RCV002181945; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622860184622860GA184622860-
NM_021942.6(TRAPPC11):c.2869G>A (p.Glu957Lys)60684TRAPPC11Uncertain significancers1736807463RCV001063751; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622867184622867GA4:g.184622867G>A-
NM_021942.6(TRAPPC11):c.2871G>A (p.Glu957=)60684TRAPPC11Likely benign-1RCV001411754; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622869184622869GA184622869-
NM_021942.6(TRAPPC11):c.2874T>C (p.Ser958=)60684TRAPPC11Likely benign-1RCV002135992; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622872184622872TC184622872-
NM_021942.6(TRAPPC11):c.2895T>G (p.Leu965=)60684TRAPPC11Likely benign-1RCV001482889; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622893184622893TG184622893-
NM_021942.6(TRAPPC11):c.2916T>C (p.Asn972=)60684TRAPPC11Likely benign-1RCV001464854; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622914184622914TC184622914-
NM_021942.6(TRAPPC11):c.2925T>G (p.Gly975=)60684TRAPPC11Likely benign-1RCV001442579; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622923184622923TG184622923-
NM_021942.6(TRAPPC11):c.2926G>A (p.Gly976Arg)60684TRAPPC11Uncertain significance-1RCV001918519; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622924184622924GA184622924-
NM_021942.6(TRAPPC11):c.2937C>T (p.Thr979=)60684TRAPPC11Likely benignrs200546920RCV000946182; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622935184622935CT4:g.184622935C>T-
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)60684TRAPPC11Pathogenicrs397509417RCV000054408; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622936184622936GA4:g.184622936G>AClinGen:CA144539,UniProtKB:Q7Z392#VAR_070158,OMIM:614138.0001C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2941C>A (p.His981Asn)60684TRAPPC11Uncertain significance-1RCV001918892; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622939184622939CA184622939-
NM_021942.6(TRAPPC11):c.2942A>G (p.His981Arg)60684TRAPPC11Uncertain significancers1554011266RCV000559696; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622940184622940AGNC_000004.11:g.184622940A>GClinGen:CA358873925C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2951T>C (p.Ile984Thr)60684TRAPPC11Uncertain significancers756061183RCV001225049; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622949184622949TC4:g.184622949T>C-
NM_021942.6(TRAPPC11):c.2962A>G (p.Arg988Gly)60684TRAPPC11Uncertain significancers1199947558RCV001224490; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622960184622960AG4:g.184622960A>G-
NM_021942.6(TRAPPC11):c.2963+10A>T60684TRAPPC11Likely benign-1RCV002122091; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622971184622971AT184622971-
NM_021942.6(TRAPPC11):c.2963+13T>G60684TRAPPC11Likely benign-1RCV002204800; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622974184622974TG184622974-
NM_021942.6(TRAPPC11):c.2963+14C>G60684TRAPPC11Likely benign-1RCV002172142; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184622975184622975CG184622975-
NM_021942.6(TRAPPC11):c.2964-19A>G60684TRAPPC11Uncertain significance-1RCV001926633; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626113184626113AG184626113-
NM_021942.6(TRAPPC11):c.2964-14C>G60684TRAPPC11Likely benign-1RCV002138440; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626118184626118CG184626118-
NM_021942.6(TRAPPC11):c.2964G>T (p.Arg988Ser)60684TRAPPC11Uncertain significancers1736982388RCV001327543; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626132184626132GT184626132-
NM_021942.6(TRAPPC11):c.2967C>G (p.Thr989=)60684TRAPPC11Uncertain significancers1736982669RCV001247698; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626135184626135CG4:g.184626135C>G-
NM_021942.6(TRAPPC11):c.2995A>C (p.Thr999Pro)60684TRAPPC11Uncertain significancers1453357796RCV001212168; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626163184626163AC4:g.184626163A>C-
NM_021942.6(TRAPPC11):c.3001G>A (p.Val1001Ile)60684TRAPPC11Uncertain significance-1RCV001870629; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626169184626169GA184626169-
NM_021942.6(TRAPPC11):c.3002T>A (p.Val1001Asp)60684TRAPPC11Uncertain significancers200989029RCV000651609; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626170184626170TANC_000004.11:g.184626170T>AClinGen:CA3152408C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3003C>T (p.Val1001=)60684TRAPPC11Likely benign-1RCV002174349; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626171184626171CT184626171-
NM_021942.6(TRAPPC11):c.3003C>A (p.Val1001=)60684TRAPPC11Likely benign-1RCV002123518; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626171184626171CA184626171-
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)60684TRAPPC11Uncertain significancers764158202RCV001336035; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626182184626182CT184626182-
NM_021942.6(TRAPPC11):c.3015G>T (p.Pro1005=)60684TRAPPC11Likely benignrs532244366RCV000651619; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626183184626183GTNC_000004.11:g.184626183G>TClinGen:CA3152412C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3015G>A (p.Pro1005=)60684TRAPPC11Likely benign-1RCV001435851; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626183184626183GA184626183-
NM_021942.6(TRAPPC11):c.3018C>T (p.His1006=)60684TRAPPC11Likely benignrs149934183RCV000874907|RCV001488833; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626186184626186CT4:g.184626186C>T-
NM_021942.6(TRAPPC11):c.3019G>A (p.Val1007Met)60684TRAPPC11Benign/Likely benignrs79804817RCV000254252|RCV000531323|RCV001668578; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184626187184626187GA4:g.184626187G>AClinGen:CA3152416C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3029A>T (p.Glu1010Val)60684TRAPPC11Uncertain significancers773678506RCV000543658; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626197184626197ATNC_000004.11:g.184626197A>TClinGen:CA3152417C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe)60684TRAPPC11Uncertain significancers79057512RCV001053318; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626208184626208CT4:g.184626208C>T-
NM_021942.6(TRAPPC11):c.3055+5C>T60684TRAPPC11Uncertain significancers763743260RCV000560736; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626228184626228CT4:g.184626228C>TClinGen:CA3152422C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3055+6G>A60684TRAPPC11Uncertain significancers373854277RCV001071704; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626229184626229GA4:g.184626229G>A-
NM_021942.6(TRAPPC11):c.3055+20A>C60684TRAPPC11Likely benign-1RCV002159834; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184626243184626243AC184626243-
NM_021942.6(TRAPPC11):c.3058C>G (p.Leu1020Val)60684TRAPPC11Uncertain significancers1737096044RCV001350897; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184627962184627962CG184627962-
NM_021942.6(TRAPPC11):c.3062C>T (p.Pro1021Leu)60684TRAPPC11Uncertain significancers371103166RCV000427782|RCV001240807; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184627966184627966CT4:g.184627966C>TClinGen:CA3152431CN169374 not specified;
NM_021942.6(TRAPPC11):c.3063G>A (p.Pro1021=)60684TRAPPC11Likely benign-1RCV002126763; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184627967184627967GA184627967-
NM_021942.6(TRAPPC11):c.3067T>C (p.Phe1023Leu)60684TRAPPC11Uncertain significance-1RCV001919270; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184627971184627971TC184627971-
NM_021942.6(TRAPPC11):c.3074G>T (p.Arg1025Leu)60684TRAPPC11Uncertain significancers374203755RCV001232205; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184627978184627978GT4:g.184627978G>T-
NM_021942.6(TRAPPC11):c.3074G>A (p.Arg1025His)60684TRAPPC11Uncertain significance-1RCV001763322|RCV001868413; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184627978184627978GA184627978-
NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu)60684TRAPPC11Uncertain significancers201494083RCV000820066; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184627990184627990CT4:g.184627990C>T-
NM_021942.6(TRAPPC11):c.3087G>A (p.Ser1029=)60684TRAPPC11Likely benignrs1454005639RCV000930804; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184627991184627991GA4:g.184627991G>A-
NM_021942.6(TRAPPC11):c.3092C>G (p.Pro1031Arg)60684TRAPPC11Benign/Likely benignrs200466260RCV000517406|RCV001085538|RCV001644619; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN1693744184627996184627996CGNC_000004.11:g.184627996C>GClinGen:CA3152438C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3104A>G (p.His1035Arg)60684TRAPPC11Uncertain significancers762555782RCV001049676; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628008184628008AG4:g.184628008A>G-
NM_021942.6(TRAPPC11):c.3104A>T (p.His1035Leu)60684TRAPPC11Uncertain significance-1RCV001864580; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628008184628008AT184628008-
NM_021942.6(TRAPPC11):c.3105C>T (p.His1035=)60684TRAPPC11Likely benign-1RCV002094510; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628009184628009CT184628009-
NM_021942.6(TRAPPC11):c.3106C>T (p.Leu1036=)60684TRAPPC11Likely benign-1RCV002147969; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628010184628010CT184628010-
NM_021942.6(TRAPPC11):c.3121G>A (p.Asp1041Asn)60684TRAPPC11Uncertain significancers1353717821RCV001243807; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628025184628025GA4:g.184628025G>A-
NM_021942.6(TRAPPC11):c.3137T>C (p.Val1046Ala)60684TRAPPC11Uncertain significance-1RCV002006686; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628041184628041TC184628041-
NM_021942.6(TRAPPC11):c.3151G>A (p.Glu1051Lys)60684TRAPPC11Uncertain significance-1RCV001968271; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628055184628055GA184628055-
NM_021942.6(TRAPPC11):c.3173_3180del (p.Phe1058fs)60684TRAPPC11Pathogenic-1RCV001972821; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628075184628082TGTTCTCAGT184628074-
NM_021942.6(TRAPPC11):c.3185A>G (p.Lys1062Arg)60684TRAPPC11Uncertain significancers551167738RCV001239140; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628089184628089AG4:g.184628089A>G-
NM_021942.6(TRAPPC11):c.3189+1G>A60684TRAPPC11Likely pathogenic-1RCV002034247; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628094184628094GA184628094-
NM_021942.6(TRAPPC11):c.3189+4C>T60684TRAPPC11Uncertain significancers964098072RCV001349378; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184628097184628097CT184628097-
NM_021942.6(TRAPPC11):c.3190-16del60684TRAPPC11Likely benign-1RCV002146069; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629544184629544GAG184629543-
NM_021942.6(TRAPPC11):c.3190-14T>C60684TRAPPC11Likely benign-1RCV002112389; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629546184629546TC184629546-
NM_021942.6(TRAPPC11):c.3190-7G>C60684TRAPPC11Likely benign-1RCV001463667; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629553184629553GC184629553-
NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln)60684TRAPPC11Uncertain significancers567387885RCV000518307|RCV000704222|RCV001823145; NMedGen:CN169374|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184629564184629564GA4:g.184629564G>AClinGen:CA3152472C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3199C>T (p.Arg1067Cys)60684TRAPPC11Uncertain significancers374734783RCV001307251; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629569184629569CT184629569-
NM_021942.6(TRAPPC11):c.3207C>A (p.Leu1069=)60684TRAPPC11Likely benign-1RCV002090432; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629577184629577CA184629577-
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser)60684TRAPPC11Uncertain significancers141588557RCV000549318|RCV001764612; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184629581184629581GANC_000004.11:g.184629581G>AClinGen:CA3152479C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3215C>T (p.Thr1072Met)60684TRAPPC11Uncertain significancers147061560RCV000557028|RCV001770473; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184629585184629585CTNC_000004.11:g.184629585C>TClinGen:CA3152480C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3215C>A (p.Thr1072Lys)60684TRAPPC11Uncertain significance-1RCV001911430; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629585184629585CA184629585-
NM_021942.6(TRAPPC11):c.3216G>A (p.Thr1072=)60684TRAPPC11Uncertain significance-1RCV001940633; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629586184629586GA184629586-
NM_021942.6(TRAPPC11):c.3221A>C (p.Gln1074Pro)60684TRAPPC11Uncertain significancers368699954RCV001059470; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629591184629591AC4:g.184629591A>C-
NM_021942.6(TRAPPC11):c.3228G>C (p.Met1076Ile)60684TRAPPC11Uncertain significance-1RCV001978244; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629598184629598GC184629598-
NM_021942.6(TRAPPC11):c.3231A>G (p.Leu1077=)60684TRAPPC11Likely benign-1RCV002025625; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629601184629601AG184629601-
NM_021942.6(TRAPPC11):c.3236A>G (p.Asn1079Ser)60684TRAPPC11Uncertain significancers898762603RCV000651607; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629606184629606AGNC_000004.11:g.184629606A>GClinGen:CA111870625C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3253G>T (p.Ala1085Ser)60684TRAPPC11Uncertain significance-1RCV001987468; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629623184629623GT184629623-
NM_021942.6(TRAPPC11):c.3270G>C (p.Leu1090=)60684TRAPPC11Likely benign-1RCV002151585; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629640184629640GC184629640-
NM_021942.6(TRAPPC11):c.3270G>A (p.Leu1090=)60684TRAPPC11Likely benign-1RCV002096125; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629640184629640GA184629640-
NM_021942.6(TRAPPC11):c.3273A>G (p.Pro1091=)60684TRAPPC11Benign/Likely benignrs113269326RCV000516567|RCV001082034; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629643184629643AG4:g.184629643A>GClinGen:CA3152490C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3276T>C (p.Ser1092=)60684TRAPPC11Likely benignrs1579231542RCV000918035; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629646184629646TC4:g.184629646T>C-
NM_021942.6(TRAPPC11):c.3310A>G (p.Thr1104Ala)60684TRAPPC11Benignrs78663235RCV000552157|RCV001084522; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629680184629680AGNC_000004.11:g.184629680A>GClinGen:CA3152497C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3313A>G (p.Asn1105Asp)60684TRAPPC11Uncertain significancers770901450RCV001042131; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629683184629683AG4:g.184629683A>G-
NM_021942.6(TRAPPC11):c.3325A>G (p.Arg1109Gly)60684TRAPPC11Uncertain significancers1278065030RCV000686442; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629695184629695AG4:g.184629695A>G-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3329G>A (p.Arg1110His)60684TRAPPC11Benign/Likely benignrs369105119RCV000548942|RCV001566548; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184629699184629699GANC_000004.11:g.184629699G>AClinGen:CA3152502C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3340A>G (p.Thr1114Ala)60684TRAPPC11Uncertain significancers866236252RCV000814251; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629710184629710AG4:g.184629710A>G-
NM_021942.6(TRAPPC11):c.3342C>G (p.Thr1114=)60684TRAPPC11Likely benignrs368766677RCV000882118|RCV001402806; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629712184629712CG4:g.184629712C>G-
NM_021942.6(TRAPPC11):c.3357+13A>G60684TRAPPC11Likely benign-1RCV002149124; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184629740184629740AG184629740-
NM_021942.6(TRAPPC11):c.3358-9A>G60684TRAPPC11Likely benign-1RCV001492740; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184633744184633744AG184633744-
NM_021942.6(TRAPPC11):c.3374T>C (p.Met1125Thr)60684TRAPPC11Uncertain significance-1RCV001917728; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184633769184633769TC184633769-
NM_021942.6(TRAPPC11):c.3377A>T (p.Asp1126Val)60684TRAPPC11Uncertain significance-1RCV002005429; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184633772184633772AT184633772-
NM_021942.6(TRAPPC11):c.3393T>C (p.Ala1131=)60684TRAPPC11Likely benignrs770191637RCV000944921|RCV001468073; NMedGen:CN517202|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:3698404184633788184633788TC4:g.184633788T>C-
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg)60684TRAPPC11Uncertain significancers142222368RCV000699661|RCV000993347; NMONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840|MedGen:CN5172024184633795184633795TC4:g.184633795T>C-C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
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