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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Muscular Dystrophies, Limb-Girdle (D049288)
..Starting node ..MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
Child Nodes:
Sister Nodes:
..Beta-sarcoglycanopathy (C535435)
..CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE (OMIM:616812)
..Dysferlinopathy (C537995)
..Epidermolysa bullosa simplex and limb girdle muscular dystrophy (C535955)
..Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..Limb-girdle muscular dystrophy autosomal recessive (C538640)
..Limb-girdle muscular dystrophy type 2A (C535895)
..Limb-girdle muscular dystrophy type 2H (C535897)
..Limb-girdle muscular dystrophy, type 1B (C535898)
..Limb-Girdle Muscular Dystrophy, Type 1G (C563794)
..Limb-girdle muscular dystrophy, type 2B (C535899)
..MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE (OMIM:616827)
..MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
..MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..Muscular Dystrophy, Hemizygous Lethal Type (C564097)
..MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
..MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
..MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
..Muscular dystrophy, limb-girdle, type 1A (C535906)
..Muscular Dystrophy, Limb-Girdle, Type 1C (C563362)
..Muscular Dystrophy, Limb-Girdle, Type 1D (C566370)
..Muscular Dystrophy, Limb-Girdle, Type 1E (C566589)
..Muscular Dystrophy, Limb-Girdle, Type 1F (C564242)
..MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H (OMIM:613530)
..Muscular Dystrophy, Limb-Girdle, Type 2G (C566599)
..Muscular Dystrophy, Limb-Girdle, Type 2I (C564612)
..Muscular Dystrophy, Limb-Girdle, Type 2J (C563854)
..Muscular Dystrophy, Limb-Girdle, Type 2L (C566968)
..Muscular Dystrophy, Limb-Girdle, Type 2M (C566912)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 (OMIM:615351)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 (OMIM:616094)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
..MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
..Myopathy, limb-girdle, with bone fragility (C536104)
..Sarcoglycanopathies (D058088) 3
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 :
Genes: TRAPPC11;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002571	Achalasia	HP:0040283
3	HP:0000522	Alacrima	HP:0040283
4	HP:0001251	Ataxia
5	HP:0002305	Athetosis
6	HP:0000518	Cataract NAMDC: Cataracts
7	HP:0001272	Cerebellar atrophy	HP:0040283
8	HP:0002072	Chorea NAMDC: Chorea
9	HP:0003429	CNS hypomyelination	HP:0040283
10	HP:0002355	Difficulty walking
11	HP:0001332	Dystonia NAMDC: Dystonia
12	HP:0002910	Elevated hepatic transaminases	HP:0040283
13	HP:0003236	Elevated serum creatine phosphokinase
14	HP:0001290	Generalized hypotonia
15	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
16	HP:0001263	Global developmental delay NAMDC: Mental retardation
17	HP:0003391	Gowers sign
18	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy	HP:0040283
19	HP:0002240	Hepatomegaly	HP:0040283
20	HP:0001385	Hip dysplasia
21	HP:0003307	Hyperlordosis
22	HP:0002540	Inability to walk
23	HP:0001249	Intellectual disability
24	HP:0006785	Limb-girdle muscular dystrophy
25	HP:0000252	Microcephaly
26	HP:0003394	Muscle cramps
27	HP:0003326	Myalgia
28	HP:0000545	Myopia
29	HP:0003812	Phenotypic variability
30	HP:0002465	Poor speech
31	HP:0002650	Scoliosis
32	HP:0001250	Seizures NAMDC: Seizures	HP:0040283
33	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
34	HP:0000486	Strabismus
35	HP:0001337	Tremor
36	HP:0002515	Waddling gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NC_000004.12:g.(?_183663858)_(183712654_?)del	60684	TRAPPC11	Pathogenic	-1	RCV001032900;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585011	184633807	na	na	-1	-
NC_000004.11:g.(?_184585021)_(184633797_?)dup	60684	TRAPPC11	Uncertain significance	-1	RCV001982655;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585021	184633797	na	na	-1	-
NC_000004.11:g.(?_184585021)_(184633797_?)del	60684	TRAPPC11	Pathogenic	-1	RCV001953408;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585021	184633797	na	na	-1	-
NM_021942.6(TRAPPC11):c.16T>C (p.Trp6Arg)	60684	TRAPPC11	Uncertain significance	-1	RCV001985450;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585036	184585036	T	C	184585036	-
NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp)	60684	TRAPPC11	Uncertain significance	rs532605756	RCV001345609;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585063	184585063	C	T	184585063	-
NM_021942.6(TRAPPC11):c.44G>A (p.Arg15Gln)	60684	TRAPPC11	Uncertain significance	rs368097747	RCV001215616;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585064	184585064	G	A	4:g.184585064G>A	-
NM_021942.6(TRAPPC11):c.49A>C (p.Met17Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV002029079;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585069	184585069	A	C	184585069	-
NM_021942.6(TRAPPC11):c.66A>G (p.Leu22=)	60684	TRAPPC11	Likely benign	rs776826270	RCV000525088;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585086	184585086	A	G	4:g.184585086A>G	ClinGen:CA3151472	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.75G>A (p.Leu25=)	60684	TRAPPC11	Uncertain significance	rs1444239174	RCV001051722;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585095	184585095	G	A	4:g.184585095G>A	-
NM_021942.6(TRAPPC11):c.86A>G (p.Tyr29Cys)	60684	TRAPPC11	Uncertain significance	rs1734703097	RCV001054396;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585106	184585106	A	G	4:g.184585106A>G	-
NM_021942.6(TRAPPC11):c.96C>G (p.Val32=)	60684	TRAPPC11	Likely benign	rs774010916	RCV000973829\|RCV001497106;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585116	184585116	C	G	4:g.184585116C>G	-
NM_021942.6(TRAPPC11):c.100C>A (p.Arg34=)	60684	TRAPPC11	Likely benign	-1	RCV001470361;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585120	184585120	C	A	184585120	-
NM_021942.6(TRAPPC11):c.106G>A (p.Val36Ile)	60684	TRAPPC11	Uncertain significance	-1	RCV001884868;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585126	184585126	G	A	184585126	-
NM_021942.6(TRAPPC11):c.106G>C (p.Val36Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001872971;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585126	184585126	G	C	184585126	-
NM_021942.6(TRAPPC11):c.114C>T (p.Asp38=)	60684	TRAPPC11	Likely benign	-1	RCV001467100;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585134	184585134	C	T	184585134	-
NM_021942.6(TRAPPC11):c.117C>G (p.Ala39=)	60684	TRAPPC11	Benign/Likely benign	rs145842147	RCV000249846\|RCV000651618\|RCV001081295;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585137	184585137	C	G	NC_000004.11:g.184585137C>G	ClinGen:CA3151483	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.130C>T (p.Arg44Trp)	60684	TRAPPC11	Uncertain significance	-1	RCV001757892\|RCV001882827;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585150	184585150	C	T	184585150	-
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)	60684	TRAPPC11	Pathogenic	rs150331292	RCV000416446;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585162	184585162	C	T	4:g.184585162C>T	ClinGen:CA16044220	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.142C>G (p.Arg48Gly)	60684	TRAPPC11	Uncertain significance	rs150331292	RCV001241969;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585162	184585162	C	G	4:g.184585162C>G	-
NM_021942.6(TRAPPC11):c.143G>A (p.Arg48Gln)	60684	TRAPPC11	Uncertain significance	rs1473309875	RCV000696131;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585163	184585163	G	A	4:g.184585163G>A	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu)	60684	TRAPPC11	Benign	rs141909783	RCV000242200\|RCV000530759\|RCV000993344;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184585165	184585165	G	C	4:g.184585165G>C	ClinGen:CA3151491	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.150A>G (p.Pro50=)	60684	TRAPPC11	Likely benign	-1	RCV002076776;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585170	184585170	A	G	184585170	-
NM_021942.6(TRAPPC11):c.151A>G (p.Ile51Val)	60684	TRAPPC11	Uncertain significance	rs141053214	RCV001056164;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585171	184585171	A	G	4:g.184585171A>G	-
NM_021942.6(TRAPPC11):c.161A>G (p.Lys54Arg)	60684	TRAPPC11	Uncertain significance	-1	RCV001733715;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585181	184585181	A	G	184585181	-
NM_021942.6(TRAPPC11):c.183G>A (p.Glu61=)	60684	TRAPPC11	Likely benign	rs144878889	RCV000966650\|RCV002066400;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585203	184585203	G	A	4:g.184585203G>A	-
NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu)	60684	TRAPPC11	Uncertain significance	rs1734713616	RCV001337449;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585210	184585210	A	G	184585210	-
NM_021942.6(TRAPPC11):c.204+1G>C	60684	TRAPPC11	Likely pathogenic	rs1734714805	RCV001223573;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585225	184585225	G	C	4:g.184585225G>C	-
NM_021942.6(TRAPPC11):c.204+7G>T	60684	TRAPPC11	Likely benign	-1	RCV002149646;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585231	184585231	G	T	184585231	-
NM_021942.6(TRAPPC11):c.204+17G>A	60684	TRAPPC11	Benign/Likely benign	rs200658266	RCV000251755\|RCV002058314;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184585241	184585241	G	A	4:g.184585241G>A	ClinGen:CA3151502	CN169374 not specified;
NM_021942.6(TRAPPC11):c.205-10A>G	60684	TRAPPC11	Uncertain significance	rs746348297	RCV000596084\|RCV001854059;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587400	184587400	A	G	4:g.184587400A>G	ClinGen:CA3151530	CN169374 not specified;
NM_021942.6(TRAPPC11):c.205-10A>T	60684	TRAPPC11	Likely benign	-1	RCV001501574;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587400	184587400	A	T	184587400	-
NM_021942.6(TRAPPC11):c.211T>C (p.Ser71Pro)	60684	TRAPPC11	Uncertain significance	rs1734877199	RCV001217323;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587416	184587416	T	C	4:g.184587416T>C	-
NM_021942.6(TRAPPC11):c.212C>T (p.Ser71Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001912774;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587417	184587417	C	T	184587417	-
NM_021942.6(TRAPPC11):c.219G>C (p.Glu73Asp)	60684	TRAPPC11	Benign/Likely benign	rs138760818	RCV000242095\|RCV000543943\|RCV001558527;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184587424	184587424	G	C	NC_000004.11:g.184587424G>C	ClinGen:CA3151533	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.219G>T (p.Glu73Asp)	60684	TRAPPC11	Uncertain significance	-1	RCV001942483;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587424	184587424	G	T	184587424	-
NM_021942.6(TRAPPC11):c.222G>T (p.Trp74Cys)	60684	TRAPPC11	Uncertain significance	-1	RCV001941419;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587427	184587427	G	T	184587427	-
NM_021942.6(TRAPPC11):c.225C>T (p.Tyr75=)	60684	TRAPPC11	Likely benign	-1	RCV002168127;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587430	184587430	C	T	184587430	-
NM_021942.6(TRAPPC11):c.226A>G (p.Ile76Val)	60684	TRAPPC11	Uncertain significance	-1	RCV002025597;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587431	184587431	A	G	184587431	-
NM_021942.6(TRAPPC11):c.248C>G (p.Thr83Ser)	60684	TRAPPC11	Uncertain significance	rs1024182354	RCV000518291\|RCV001364831;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587453	184587453	C	G	4:g.184587453C>G	ClinGen:CA111834994	CN169374 not specified;
NM_021942.6(TRAPPC11):c.270G>C (p.Leu90=)	60684	TRAPPC11	Benign/Likely benign	rs60142264	RCV000540618\|RCV001546278\|RCV001662591;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202\|MedGen:CN169374	4	184587475	184587475	G	C	4:g.184587475G>C	ClinGen:CA3151540	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.270G>A (p.Leu90=)	60684	TRAPPC11	Likely benign	-1	RCV001432889;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587475	184587475	G	A	184587475	-
NM_021942.6(TRAPPC11):c.276G>A (p.Leu92=)	60684	TRAPPC11	Likely benign	-1	RCV001493444;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587481	184587481	G	A	184587481	-
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=)	60684	TRAPPC11	Likely benign	rs148105529	RCV000249257\|RCV000529135\|RCV001552666;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184587487	184587487	A	C	4:g.184587487A>C	ClinGen:CA3151542	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.284C>T (p.Ala95Val)	60684	TRAPPC11	Uncertain significance	rs868075355	RCV001214164;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587489	184587489	C	T	4:g.184587489C>T	-
NM_021942.6(TRAPPC11):c.297G>A (p.Val99=)	60684	TRAPPC11	Likely benign	rs756264295	RCV000906981;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587502	184587502	G	A	4:g.184587502G>A	-
NM_021942.6(TRAPPC11):c.349T>C (p.Cys117Arg)	60684	TRAPPC11	Uncertain significance	-1	RCV002005520;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587554	184587554	T	C	184587554	-
NM_021942.6(TRAPPC11):c.351C>T (p.Cys117=)	60684	TRAPPC11	Likely benign	rs372764730	RCV000993348\|RCV001454148;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587556	184587556	C	T	4:g.184587556C>T	-
NM_021942.6(TRAPPC11):c.352G>A (p.Ala118Thr)	60684	TRAPPC11	Uncertain significance	rs577423330	RCV001068491;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587557	184587557	G	A	4:g.184587557G>A	-
NM_021942.6(TRAPPC11):c.359G>A (p.Arg120Lys)	60684	TRAPPC11	Uncertain significance	rs367769488	RCV000809333;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587564	184587564	G	A	4:g.184587564G>A	-
NM_021942.6(TRAPPC11):c.374+12T>A	60684	TRAPPC11	Likely benign	-1	RCV002182207;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184587591	184587591	T	A	184587591	-
NM_021942.6(TRAPPC11):c.375-8C>T	60684	TRAPPC11	Likely benign	rs750824619	RCV000651614;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588205	184588205	C	T	4:g.184588205C>T	ClinGen:CA3151567	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.375-3C>T	60684	TRAPPC11	Uncertain significance	-1	RCV001370006;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588210	184588210	C	T	184588210	-
NM_021942.6(TRAPPC11):c.386A>G (p.Gln129Arg)	60684	TRAPPC11	Uncertain significance	rs1734920268	RCV001066393;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588224	184588224	A	G	4:g.184588224A>G	-
NM_021942.6(TRAPPC11):c.399A>G (p.Thr133=)	60684	TRAPPC11	Likely benign	rs774078744	RCV000876904;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588237	184588237	A	G	4:g.184588237A>G	-
NM_021942.6(TRAPPC11):c.404T>A (p.Val135Asp)	60684	TRAPPC11	Conflicting interpretations of pathogenicity	-1	RCV001559467\|RCV002032634;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588242	184588242	T	A	184588242	-
NM_021942.6(TRAPPC11):c.405T>G (p.Val135=)	60684	TRAPPC11	Likely benign	rs375901783	RCV000908553;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588243	184588243	T	G	4:g.184588243T>G	-
NM_021942.6(TRAPPC11):c.407C>T (p.Ala136Val)	60684	TRAPPC11	Uncertain significance	rs1472931579	RCV000814423;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588245	184588245	C	T	4:g.184588245C>T	-
NM_021942.6(TRAPPC11):c.408A>G (p.Ala136=)	60684	TRAPPC11	Likely benign	-1	RCV001493754;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588246	184588246	A	G	184588246	-
NM_021942.6(TRAPPC11):c.421C>A (p.Gln141Lys)	60684	TRAPPC11	Uncertain significance	rs1734921670	RCV001067221;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588259	184588259	C	A	4:g.184588259C>A	-
NM_021942.6(TRAPPC11):c.432C>T (p.Thr144=)	60684	TRAPPC11	Likely benign	rs1579160317	RCV000975722;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588270	184588270	C	T	4:g.184588270C>T	-
NM_021942.6(TRAPPC11):c.433C>G (p.Pro145Ala)	60684	TRAPPC11	Uncertain significance	rs747596215	RCV000812530;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588271	184588271	C	G	4:g.184588271C>G	-
NM_021942.6(TRAPPC11):c.445+8A>C	60684	TRAPPC11	Likely benign	-1	RCV002122312;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588291	184588291	A	C	184588291	-
NM_021942.6(TRAPPC11):c.445+10G>A	60684	TRAPPC11	Likely benign	rs371903617	RCV000873753;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588293	184588293	G	A	4:g.184588293G>A	-
NM_021942.6(TRAPPC11):c.445+19A>G	60684	TRAPPC11	Likely benign	-1	RCV002210522;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184588302	184588302	A	G	184588302	-
NM_021942.6(TRAPPC11):c.446-6C>T	60684	TRAPPC11	Uncertain significance	rs201044687	RCV001221456;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589150	184589150	C	T	4:g.184589150C>T	-
NM_021942.6(TRAPPC11):c.450A>G (p.Glu150=)	60684	TRAPPC11	Likely benign	-1	RCV001473778;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589160	184589160	A	G	184589160	-
NM_021942.6(TRAPPC11):c.451G>A (p.Asp151Asn)	60684	TRAPPC11	Uncertain significance	-1	RCV001930389;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589161	184589161	G	A	184589161	-
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu)	60684	TRAPPC11	Likely pathogenic	rs868721699	RCV000985111;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589174	184589174	C	T	4:g.184589174C>T	-
NM_021942.6(TRAPPC11):c.465A>C (p.Ser155=)	60684	TRAPPC11	Likely benign	-1	RCV001428873;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589175	184589175	A	C	184589175	-
NM_021942.6(TRAPPC11):c.468A>G (p.Glu156=)	60684	TRAPPC11	Likely benign	rs745593996	RCV000877631;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589178	184589178	A	G	4:g.184589178A>G	-
NM_021942.6(TRAPPC11):c.487A>G (p.Asn163Asp)	60684	TRAPPC11	Uncertain significance	rs775567168	RCV001339848;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589197	184589197	A	G	184589197	-
NM_021942.6(TRAPPC11):c.503C>T (p.Ser168Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV002024685;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589213	184589213	C	T	184589213	-
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs)	60684	TRAPPC11	Pathogenic	-1	RCV001783900;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589221	184589224	GTCTT	G	184589220	-
NM_021942.6(TRAPPC11):c.512C>A (p.Ser171Tyr)	60684	TRAPPC11	Uncertain significance	rs1328868472	RCV001055750;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589222	184589222	C	A	4:g.184589222C>A	-
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs)	60684	TRAPPC11	Pathogenic	rs771717941	RCV001336555;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589223	184589226	CTTTG	C	184589222	-
NM_021942.6(TRAPPC11):c.525G>A (p.Leu175=)	60684	TRAPPC11	Likely benign	-1	RCV001441046;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589235	184589235	G	A	184589235	-
NM_021942.6(TRAPPC11):c.528G>C (p.Pro176=)	60684	TRAPPC11	Likely benign	rs766450086	RCV000979897\|RCV001448441;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589238	184589238	G	C	4:g.184589238G>C	-
NM_021942.6(TRAPPC11):c.528G>A (p.Pro176=)	60684	TRAPPC11	Likely benign	-1	RCV002103591;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589238	184589238	G	A	184589238	-
NM_021942.6(TRAPPC11):c.552T>C (p.Tyr184=)	60684	TRAPPC11	Likely benign	-1	RCV001402035;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589262	184589262	T	C	184589262	-
NM_021942.6(TRAPPC11):c.560+7A>G	60684	TRAPPC11	Likely benign	-1	RCV002099847;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184589277	184589277	A	G	184589277	-
NM_021942.6(TRAPPC11):c.561-11G>A	60684	TRAPPC11	Benign	-1	RCV002132204;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595855	184595855	G	A	184595855	-
NM_021942.6(TRAPPC11):c.561-10T>C	60684	TRAPPC11	Likely benign	-1	RCV001497401;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595856	184595856	T	C	184595856	-
NM_021942.6(TRAPPC11):c.562T>C (p.Leu188=)	60684	TRAPPC11	Likely benign	rs767836308	RCV000874276;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595867	184595867	T	C	4:g.184595867T>C	-
NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly)	60684	TRAPPC11	Uncertain significance	rs1554007320	RCV000662049;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595886	184595886	A	G	4:g.184595886A>G	-	C4517996 Autosomal recessive limb girdle muscular dystrophy type 2S;
NM_021942.6(TRAPPC11):c.585T>G (p.His195Gln)	60684	TRAPPC11	Uncertain significance	rs1411666786	RCV000688244;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595890	184595890	T	G	4:g.184595890T>G	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.619G>A (p.Val207Met)	60684	TRAPPC11	Uncertain significance	rs201181808	RCV000697544;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595924	184595924	G	A	4:g.184595924G>A	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.630_631del (p.His210fs)	60684	TRAPPC11	Pathogenic	-1	RCV001927055;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595934	184595935	CAT	C	184595933	-
NM_021942.6(TRAPPC11):c.642G>T (p.Leu214Phe)	60684	TRAPPC11	Uncertain significance	rs1579173461	RCV001040924;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595947	184595947	G	T	4:g.184595947G>T	-
NM_021942.6(TRAPPC11):c.659A>T (p.Gln220Leu)	60684	TRAPPC11	Uncertain significance	rs1561035054	RCV000698646;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595964	184595964	A	T	4:g.184595964A>T	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.660+3G>A	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs377549138	RCV000705918\|RCV001546854;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184595968	184595968	G	A	4:g.184595968G>A	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.660+4C>T	60684	TRAPPC11	Uncertain significance	rs559118514	RCV000651601;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595969	184595969	C	T	4:g.184595969C>T	ClinGen:CA3151644	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.660+5G>T	60684	TRAPPC11	Uncertain significance	rs770891745	RCV001068260;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595970	184595970	G	T	4:g.184595970G>T	-
NM_021942.6(TRAPPC11):c.660+5G>A	60684	TRAPPC11	Uncertain significance	rs770891745	RCV001047323;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595970	184595970	G	A	4:g.184595970G>A	-
NM_021942.6(TRAPPC11):c.660+9T>C	60684	TRAPPC11	Likely benign	-1	RCV001442128;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184595974	184595974	T	C	184595974	-
NM_021942.6(TRAPPC11):c.660+18A>G	60684	TRAPPC11	Benign/Likely benign	-1	RCV001512034\|RCV001581165;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184595983	184595983	A	G	184595983	-
NM_021942.6(TRAPPC11):c.661-20A>T	60684	TRAPPC11	Likely benign	-1	RCV002128833;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596297	184596297	A	T	184596297	-
NM_021942.6(TRAPPC11):c.661-13del	60684	TRAPPC11	Benign	-1	RCV002110197;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596298	184596298	AT	A	184596297	-
NM_021942.6(TRAPPC11):c.661-8C>T	60684	TRAPPC11	Likely benign	-1	RCV001428426;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596309	184596309	C	T	184596309	-
NM_021942.6(TRAPPC11):c.661-3del	60684	TRAPPC11	Benign	rs140871779	RCV000243406\|RCV001510409\|RCV001660347;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184596310	184596310	CT	C	NC_000004.11:g.184596314del	ClinGen:CA3151671	CN169374 not specified;
NM_021942.6(TRAPPC11):c.661-1G>T	60684	TRAPPC11	Pathogenic	rs886041052	RCV000258796;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596316	184596316	G	T	NC_000004.11:g.184596316G>T	ClinGen:CA10602644,OMIM:614138.0003	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.675G>A (p.Arg225=)	60684	TRAPPC11	Benign	rs73872657	RCV000537391\|RCV001662592\|RCV001675927;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN169374\|MedGen:CN517202	4	184596331	184596331	G	A	NC_000004.11:g.184596331G>A	ClinGen:CA3151674	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.701G>A (p.Ser234Asn)	60684	TRAPPC11	Uncertain significance	rs1735354186	RCV001345019;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596357	184596357	G	A	184596357	-
NM_021942.6(TRAPPC11):c.702T>C (p.Ser234=)	60684	TRAPPC11	Likely benign	-1	RCV001431296;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596358	184596358	T	C	184596358	-
NM_021942.6(TRAPPC11):c.706T>A (p.Leu236Met)	60684	TRAPPC11	Uncertain significance	-1	RCV001893988;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596362	184596362	T	A	184596362	-
NM_021942.6(TRAPPC11):c.706T>C (p.Leu236=)	60684	TRAPPC11	Likely benign	-1	RCV001975375;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596362	184596362	T	C	184596362	-
NM_021942.6(TRAPPC11):c.713A>C (p.Gln238Pro)	60684	TRAPPC11	Uncertain significance	-1	RCV001872307;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596369	184596369	A	C	184596369	-
NM_021942.6(TRAPPC11):c.723A>G (p.Gln241=)	60684	TRAPPC11	Likely benign	-1	RCV001436482;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596379	184596379	A	G	184596379	-
NM_021942.6(TRAPPC11):c.729G>A (p.Ala243=)	60684	TRAPPC11	Likely benign	-1	RCV002081898;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596385	184596385	G	A	184596385	-
NM_021942.6(TRAPPC11):c.734+13T>G	60684	TRAPPC11	Likely benign	-1	RCV002120021;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596403	184596403	T	G	184596403	-
NM_021942.6(TRAPPC11):c.734+15C>T	60684	TRAPPC11	Likely benign	-1	RCV002168497;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596405	184596405	C	T	184596405	-
NM_021942.6(TRAPPC11):c.734+17A>G	60684	TRAPPC11	Benign	-1	RCV002118820;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184596407	184596407	A	G	184596407	-
NM_021942.6(TRAPPC11):c.735-12C>T	60684	TRAPPC11	Likely benign	-1	RCV002187126;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598599	184598599	C	T	184598599	-
NM_021942.6(TRAPPC11):c.735-2A>G	60684	TRAPPC11	Uncertain significance	rs1554007706	RCV000651606;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598609	184598609	A	G	4:g.184598609A>G	ClinGen:CA358861774	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.737A>G (p.Asn246Ser)	60684	TRAPPC11	Uncertain significance	rs1414459418	RCV001309317;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598613	184598613	A	G	184598613	-
NM_021942.6(TRAPPC11):c.743G>C (p.Arg248Thr)	60684	TRAPPC11	Uncertain significance	rs1441893342	RCV000651610;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598619	184598619	G	C	4:g.184598619G>C	ClinGen:CA358861799	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.747C>T (p.Thr249=)	60684	TRAPPC11	Likely benign	rs540347620	RCV000879473\|RCV001471939;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598623	184598623	C	T	4:g.184598623C>T	-
NM_021942.6(TRAPPC11):c.748G>A (p.Ala250Thr)	60684	TRAPPC11	Uncertain significance	rs368397954	RCV001344008;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598624	184598624	G	A	184598624	-
NM_021942.6(TRAPPC11):c.760G>A (p.Val254Ile)	60684	TRAPPC11	Uncertain significance	rs759142358	RCV001325785;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598636	184598636	G	A	184598636	-
NM_021942.6(TRAPPC11):c.763C>T (p.His255Tyr)	60684	TRAPPC11	Uncertain significance	rs1237348034	RCV001239141;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598639	184598639	C	T	4:g.184598639C>T	-
NM_021942.6(TRAPPC11):c.765C>T (p.His255=)	60684	TRAPPC11	Likely benign	rs767131430	RCV000910336;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598641	184598641	C	T	4:g.184598641C>T	-
NM_021942.6(TRAPPC11):c.770T>G (p.Leu257Trp)	60684	TRAPPC11	Uncertain significance	-1	RCV001948315;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598646	184598646	T	G	184598646	-
NM_021942.6(TRAPPC11):c.778C>G (p.His260Asp)	60684	TRAPPC11	Uncertain significance	-1	RCV001942702;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598654	184598654	C	G	184598654	-
NM_021942.6(TRAPPC11):c.779A>G (p.His260Arg)	60684	TRAPPC11	Uncertain significance	rs764083534	RCV000651600;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598655	184598655	A	G	4:g.184598655A>G	ClinGen:CA3151705	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.784A>G (p.Thr262Ala)	60684	TRAPPC11	Uncertain significance	-1	RCV001922296;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598660	184598660	A	G	184598660	-
NM_021942.6(TRAPPC11):c.829A>G (p.Lys277Glu)	60684	TRAPPC11	Uncertain significance	rs368689327	RCV001036881;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184598705	184598705	A	G	4:g.184598705A>G	-
NM_021942.6(TRAPPC11):c.832-16A>G	60684	TRAPPC11	Uncertain significance	-1	RCV001952340;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600490	184600490	A	G	184600490	-
NM_021942.6(TRAPPC11):c.832-9A>G	60684	TRAPPC11	Benign/Likely benign	rs114748616	RCV000517840\|RCV000525876\|RCV001591174;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184600497	184600497	A	G	4:g.184600497A>G	ClinGen:CA3151723	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.832-3C>A	60684	TRAPPC11	Uncertain significance	rs368922437	RCV000550013;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600503	184600503	C	A	NC_000004.11:g.184600503C>A	ClinGen:CA3151724	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.855C>T (p.His285=)	60684	TRAPPC11	Likely benign	rs139419771	RCV000922731;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600529	184600529	C	T	4:g.184600529C>T	-
NM_021942.6(TRAPPC11):c.855C>A (p.His285Gln)	60684	TRAPPC11	Uncertain significance	rs139419771	RCV001339399;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600529	184600529	C	A	184600529	-
NM_021942.6(TRAPPC11):c.861C>T (p.Thr287=)	60684	TRAPPC11	Likely benign	-1	RCV002090323;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600535	184600535	C	T	184600535	-
NM_021942.6(TRAPPC11):c.885C>T (p.Phe295=)	60684	TRAPPC11	Likely benign	rs371401679	RCV000944705\|RCV001414043;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600559	184600559	C	T	4:g.184600559C>T	-
NM_021942.6(TRAPPC11):c.897C>A (p.Ile299=)	60684	TRAPPC11	Benign	rs62357990	RCV000248348\|RCV001517374\|RCV001722341;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184600571	184600571	C	A	4:g.184600571C>A	ClinGen:CA3151737	CN169374 not specified;
NM_021942.6(TRAPPC11):c.897C>T (p.Ile299=)	60684	TRAPPC11	Likely benign	-1	RCV002150746;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600571	184600571	C	T	184600571	-
NM_021942.6(TRAPPC11):c.898G>A (p.Asp300Asn)	60684	TRAPPC11	Uncertain significance	-1	RCV001971314;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600572	184600572	G	A	184600572	-
NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val)	60684	TRAPPC11	Uncertain significance	rs768253464	RCV000651611\|RCV001756096;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184600573	184600573	A	T	NC_000004.11:g.184600573A>T	ClinGen:CA3151739	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp)	60684	TRAPPC11	Uncertain significance	rs1554007926	RCV000626270;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600576	184600576	T	G	4:g.184600576T>G	ClinGen:CA358862288	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.918T>C (p.Ile306=)	60684	TRAPPC11	Likely benign	-1	RCV001423224;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600592	184600592	T	C	184600592	-
NM_021942.6(TRAPPC11):c.918T>G (p.Ile306Met)	60684	TRAPPC11	Uncertain significance	-1	RCV001878357;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600592	184600592	T	G	184600592	-
NM_021942.6(TRAPPC11):c.927A>G (p.Ala309=)	60684	TRAPPC11	Benign	rs4241779	RCV000252950\|RCV000829968\|RCV001510410;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600601	184600601	A	G	NC_000004.11:g.184600601A>G	ClinGen:CA3151745	CN169374 not specified;
NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val)	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs148833310	RCV000518737\|RCV000538180\|RCV001084206;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600605	184600605	C	G	NC_000004.11:g.184600605C>G	ClinGen:CA3151746	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.942G>A (p.Glu314=)	60684	TRAPPC11	Likely benign	-1	RCV002142272;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600616	184600616	G	A	184600616	-
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg)	60684	TRAPPC11	Likely benign	rs533000838	RCV000952134;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600618	184600618	A	G	4:g.184600618A>G	-
NM_021942.6(TRAPPC11):c.948T>G (p.Asp316Glu)	60684	TRAPPC11	Uncertain significance	rs1327422485	RCV001301729;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600622	184600622	T	G	184600622	-
NM_021942.6(TRAPPC11):c.960T>C (p.Ser320=)	60684	TRAPPC11	Likely benign	-1	RCV002134151;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600634	184600634	T	C	184600634	-
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter)	60684	TRAPPC11	Likely pathogenic	rs1483190866	RCV000760888\|RCV001784373;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600638	184600638	C	T	NC_000004.11:g.184600638C>T	-
NM_021942.6(TRAPPC11):c.965+5G>T	60684	TRAPPC11	Uncertain significance	rs758780741	RCV000555334;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184600644	184600644	G	T	4:g.184600644G>T	ClinGen:CA3151753	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.966-10T>C	60684	TRAPPC11	Likely benign	-1	RCV001447504;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601263	184601263	T	C	184601263	-
NM_021942.6(TRAPPC11):c.974C>A (p.Ala325Asp)	60684	TRAPPC11	Uncertain significance	rs775652273	RCV000527797;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601281	184601281	C	A	NC_000004.11:g.184601281C>A	ClinGen:CA3151765	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.989T>C (p.Phe330Ser)	60684	TRAPPC11	Uncertain significance	rs1424040999	RCV001209520;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601296	184601296	T	C	4:g.184601296T>C	-
NM_021942.6(TRAPPC11):c.1005G>A (p.Lys335=)	60684	TRAPPC11	Likely benign	-1	RCV002220503;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601312	184601312	G	A	184601312	-
NM_021942.6(TRAPPC11):c.1043T>G (p.Phe348Cys)	60684	TRAPPC11	Uncertain significance	rs1735605499	RCV001244115;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601350	184601350	T	G	4:g.184601350T>G	-
NM_021942.6(TRAPPC11):c.1046A>G (p.Tyr349Cys)	60684	TRAPPC11	Uncertain significance	-1	RCV002042172;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601353	184601353	A	G	184601353	-
NM_021942.6(TRAPPC11):c.1051C>T (p.Gln351Ter)	60684	TRAPPC11	Pathogenic	-1	RCV001942047;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601358	184601358	C	T	184601358	-
NM_021942.6(TRAPPC11):c.1055A>G (p.Gln352Arg)	60684	TRAPPC11	Uncertain significance	rs780363437	RCV000815468\|RCV000998325;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184601362	184601362	A	G	4:g.184601362A>G	-
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)	60684	TRAPPC11	Uncertain significance	rs200078740	RCV001306714\|RCV001760365;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184601365	184601365	C	G	184601365	-
NM_021942.6(TRAPPC11):c.1074G>T (p.Gln358His)	60684	TRAPPC11	Uncertain significance	rs1735607583	RCV001233159;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601381	184601381	G	T	4:g.184601381G>T	-
NM_021942.6(TRAPPC11):c.1077G>A (p.Glu359=)	60684	TRAPPC11	Likely benign	-1	RCV001496617;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601384	184601384	G	A	184601384	-
NM_021942.6(TRAPPC11):c.1085A>T (p.Gln362Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV002003174;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601392	184601392	A	T	184601392	-
NM_021942.6(TRAPPC11):c.1110C>T (p.His370=)	60684	TRAPPC11	Likely benign	-1	RCV001466738;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601417	184601417	C	T	184601417	-
NM_021942.6(TRAPPC11):c.1113+2T>G	60684	TRAPPC11	Likely pathogenic	-1	RCV001783901;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601422	184601422	T	G	184601422	-
NM_021942.6(TRAPPC11):c.1113+16C>T	60684	TRAPPC11	Likely benign	-1	RCV002110495;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601436	184601436	C	T	184601436	-
NM_021942.6(TRAPPC11):c.1113+17G>A	60684	TRAPPC11	Likely benign	-1	RCV002117449;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601437	184601437	G	A	184601437	-
NM_021942.6(TRAPPC11):c.1113+19A>G	60684	TRAPPC11	Likely benign	-1	RCV002106166;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184601439	184601439	A	G	184601439	-
NM_021942.6(TRAPPC11):c.1114-3C>T	60684	TRAPPC11	Uncertain significance	rs1579187262	RCV000814421;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603882	184603882	C	T	4:g.184603882C>T	-
NM_021942.6(TRAPPC11):c.1133A>G (p.Asn378Ser)	60684	TRAPPC11	Uncertain significance	rs780991425	RCV000542350;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603904	184603904	A	G	4:g.184603904A>G	ClinGen:CA3151807	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1162G>A (p.Val388Ile)	60684	TRAPPC11	Uncertain significance	rs925965846	RCV000808656;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603933	184603933	G	A	4:g.184603933G>A	-
NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu)	60684	TRAPPC11	Uncertain significance	rs1328121937	RCV001056789;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603941	184603941	C	G	4:g.184603941C>G	-
NM_021942.6(TRAPPC11):c.1173T>C (p.Phe391=)	60684	TRAPPC11	Likely benign	-1	RCV002124140;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603944	184603944	T	C	184603944	-
NM_021942.6(TRAPPC11):c.1176T>C (p.Tyr392=)	60684	TRAPPC11	Likely benign	-1	RCV001394942;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603947	184603947	T	C	184603947	-
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter)	60684	TRAPPC11	Pathogenic/Likely pathogenic	rs140403642	RCV000554957\|RCV000825637;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|Human Phenotype Ontology:HP:0006785,Human Phenotype Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353, Orphanet:263	4	184603963	184603963	C	T	NC_000004.11:g.184603963C>T	ClinGen:CA3151816	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1193G>A (p.Arg398Gln)	60684	TRAPPC11	Uncertain significance	rs745588857	RCV000822559;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603964	184603964	G	A	4:g.184603964G>A	-
NM_021942.6(TRAPPC11):c.1198G>A (p.Gly400Arg)	60684	TRAPPC11	Uncertain significance	rs947836057	RCV001218824;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603969	184603969	G	A	4:g.184603969G>A	-
NM_021942.6(TRAPPC11):c.1204C>T (p.Leu402=)	60684	TRAPPC11	Likely benign	-1	RCV002092364;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603975	184603975	C	T	184603975	-
NM_021942.6(TRAPPC11):c.1207+1G>C	60684	TRAPPC11	Likely pathogenic	rs1735767573	RCV001233161;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603979	184603979	G	C	4:g.184603979G>C	-
NM_021942.6(TRAPPC11):c.1207+15C>T	60684	TRAPPC11	Likely benign	-1	RCV002137572;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184603993	184603993	C	T	184603993	-
NM_021942.6(TRAPPC11):c.1208-5C>T	60684	TRAPPC11	Likely benign	rs185570336	RCV000874418\|RCV001310501;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184605123	184605123	C	T	4:g.184605123C>T	-
NM_021942.6(TRAPPC11):c.1208-5C>G	60684	TRAPPC11	Uncertain significance	rs185570336	RCV000985235;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605123	184605123	C	G	4:g.184605123C>G	-
NM_021942.6(TRAPPC11):c.1208-4G>A	60684	TRAPPC11	Likely benign	rs200618360	RCV000952474;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605124	184605124	G	A	4:g.184605124G>A	-
NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr)	60684	TRAPPC11	Uncertain significance	rs375379302	RCV000538855;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605140	184605140	C	A	4:g.184605140C>A	ClinGen:CA3151851	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1224T>C (p.Asp408=)	60684	TRAPPC11	Likely benign	rs1023182753	RCV000898174;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605144	184605144	T	C	4:g.184605144T>C	-
NM_021942.6(TRAPPC11):c.1244G>A (p.Gly415Glu)	60684	TRAPPC11	Uncertain significance	rs150383310	RCV001231058;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605164	184605164	G	A	4:g.184605164G>A	-
NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala)	60684	TRAPPC11	Uncertain significance	rs201263451	RCV000696431\|RCV001552223;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184605197	184605197	T	C	NC_000004.11:g.184605197T>C	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1287+5G>A	60684	TRAPPC11	Pathogenic/Likely pathogenic	rs397509418	RCV000054409\|RCV000414573\|RCV001254697;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202\|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138, Orphanet:565837	4	184605212	184605212	G	A	4:g.184605212G>A	ClinGen:CA144540,OMIM:614138.0002	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1287+10G>A	60684	TRAPPC11	Benign	rs190478555	RCV000554600;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605217	184605217	G	A	NC_000004.11:g.184605217G>A	ClinGen:CA3151860	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1287+17A>G	60684	TRAPPC11	Likely benign	-1	RCV002187035;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605224	184605224	A	G	184605224	-
NM_021942.6(TRAPPC11):c.1288-15T>C	60684	TRAPPC11	Likely benign	-1	RCV002089798;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605283	184605283	T	C	184605283	-
NM_021942.6(TRAPPC11):c.1288-5A>G	60684	TRAPPC11	Likely benign	rs774073046	RCV000651616\|RCV001729673;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184605293	184605293	A	G	NC_000004.11:g.184605293A>G	ClinGen:CA3151874	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1291_1297del (p.Glu430_Ile431insTer)	60684	TRAPPC11	Pathogenic	-1	RCV001953797;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605301	184605307	GATAATCA	G	184605300	-
NM_021942.6(TRAPPC11):c.1296C>T (p.Ile432=)	60684	TRAPPC11	Likely benign	-1	RCV002146760;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605306	184605306	C	T	184605306	-
NM_021942.6(TRAPPC11):c.1305T>A (p.Leu435=)	60684	TRAPPC11	Likely benign	rs373944670	RCV000887532;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605315	184605315	T	A	4:g.184605315T>A	-
NM_021942.6(TRAPPC11):c.1305T>G (p.Leu435=)	60684	TRAPPC11	Likely benign	rs373944670	RCV000882132\|RCV001474617;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605315	184605315	T	G	4:g.184605315T>G	-
NM_021942.6(TRAPPC11):c.1306C>T (p.Leu436=)	60684	TRAPPC11	Likely benign	-1	RCV002207577;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605316	184605316	C	T	184605316	-
NM_021942.6(TRAPPC11):c.1337A>G (p.Tyr446Cys)	60684	TRAPPC11	Uncertain significance	rs149572534	RCV001246227;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605347	184605347	A	G	4:g.184605347A>G	-
NM_021942.6(TRAPPC11):c.1337A>T (p.Tyr446Phe)	60684	TRAPPC11	Uncertain significance	-1	RCV001913270;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605347	184605347	A	T	184605347	-
NM_021942.6(TRAPPC11):c.1341G>A (p.Lys447=)	60684	TRAPPC11	Likely benign	-1	RCV001392170;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605351	184605351	G	A	184605351	-
NM_021942.6(TRAPPC11):c.1344C>T (p.Cys448=)	60684	TRAPPC11	Likely benign	rs147260246	RCV000651617\|RCV001079069;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605354	184605354	C	T	4:g.184605354C>T	ClinGen:CA3151884	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1346C>T (p.Pro449Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001915363;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605356	184605356	C	T	184605356	-
NM_021942.6(TRAPPC11):c.1347G>A (p.Pro449=)	60684	TRAPPC11	Likely benign	rs141205658	RCV000651612;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605357	184605357	G	A	4:g.184605357G>A	ClinGen:CA3151886	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1366+17G>A	60684	TRAPPC11	Benign/Likely benign	-1	RCV001568204\|RCV002072183;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605393	184605393	G	A	184605393	-
NM_021942.6(TRAPPC11):c.1367-20A>C	60684	TRAPPC11	Likely benign	-1	RCV002076008;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605438	184605438	A	C	184605438	-
NM_021942.6(TRAPPC11):c.1367-3T>C	60684	TRAPPC11	Uncertain significance	rs1395631451	RCV000651615;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605455	184605455	T	C	NC_000004.11:g.184605455T>C	ClinGen:CA556990468	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1381G>T (p.Glu461Ter)	60684	TRAPPC11	Pathogenic	-1	RCV001967137;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605472	184605472	G	T	184605472	-
NM_021942.6(TRAPPC11):c.1391A>G (p.Tyr464Cys)	60684	TRAPPC11	Uncertain significance	rs1258652109	RCV001245214;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605482	184605482	A	G	4:g.184605482A>G	-
NM_021942.6(TRAPPC11):c.1395C>T (p.Tyr465=)	60684	TRAPPC11	Likely benign	-1	RCV001437157;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605486	184605486	C	T	184605486	-
NM_021942.6(TRAPPC11):c.1396G>A (p.Ala466Thr)	60684	TRAPPC11	Uncertain significance	-1	RCV002000867;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605487	184605487	G	A	184605487	-
NM_021942.6(TRAPPC11):c.1401G>A (p.Lys467=)	60684	TRAPPC11	Likely benign	-1	RCV002120069;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605492	184605492	G	A	184605492	-
NM_021942.6(TRAPPC11):c.1422-18C>T	60684	TRAPPC11	Likely benign	-1	RCV002213546;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605831	184605831	C	T	184605831	-
NM_021942.6(TRAPPC11):c.1422-10_1422-9del	60684	TRAPPC11	Likely benign	-1	RCV002196456;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605838	184605839	GTC	G	184605837	-
NM_021942.6(TRAPPC11):c.1422-10C>A	60684	TRAPPC11	Uncertain significance	rs1735874596	RCV001063697;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605839	184605839	C	A	4:g.184605839C>A	-
NM_021942.6(TRAPPC11):c.1422-3G>A	60684	TRAPPC11	Benign/Likely benign	rs73872662	RCV000530834\|RCV001591285\|RCV001662590;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202\|MedGen:CN169374	4	184605846	184605846	G	A	4:g.184605846G>A	ClinGen:CA3151930	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1422G>T (p.Lys474Asn)	60684	TRAPPC11	Uncertain significance	-1	RCV001359861;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605849	184605849	G	T	184605849	-
NM_021942.6(TRAPPC11):c.1463G>T (p.Trp488Leu)	60684	TRAPPC11	Uncertain significance	rs779673117	RCV000812211;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605890	184605890	G	T	4:g.184605890G>T	-
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter)	60684	TRAPPC11	Pathogenic	-1	RCV002037649;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605893	184605893	G	A	184605893	-
NM_021942.6(TRAPPC11):c.1492A>G (p.Thr498Ala)	60684	TRAPPC11	Uncertain significance	-1	RCV001867442;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605919	184605919	A	G	184605919	-
NM_021942.6(TRAPPC11):c.1497T>C (p.Ala499=)	60684	TRAPPC11	Likely benign	-1	RCV002206576;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605924	184605924	T	C	184605924	-
NM_021942.6(TRAPPC11):c.1503G>A (p.Lys501=)	60684	TRAPPC11	Benign	rs530411873	RCV000945973;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605930	184605930	G	A	4:g.184605930G>A	-
NM_021942.6(TRAPPC11):c.1507T>C (p.Ser503Pro)	60684	TRAPPC11	Uncertain significance	-1	RCV001913505;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605934	184605934	T	C	184605934	-
NM_021942.6(TRAPPC11):c.1512C>T (p.Tyr504=)	60684	TRAPPC11	Likely benign	-1	RCV002213754;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605939	184605939	C	T	184605939	-
NM_021942.6(TRAPPC11):c.1527A>G (p.Leu509=)	60684	TRAPPC11	Likely benign	-1	RCV001493977;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605954	184605954	A	G	184605954	-
NM_021942.6(TRAPPC11):c.1530G>T (p.Lys510Asn)	60684	TRAPPC11	Uncertain significance	rs139154209	RCV000805528\|RCV001263378;	N	MONDO: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 Phe	4	184605957	184605957	G	T	4:g.184605957G>T	-
NM_021942.6(TRAPPC11):c.1543T>C (p.Tyr515His)	60684	TRAPPC11	Uncertain significance	rs901204498	RCV000651602\|RCV001756095;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184605970	184605970	T	C	NC_000004.11:g.184605970T>C	ClinGen:CA111850000	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1549C>T (p.Leu517=)	60684	TRAPPC11	Likely benign	-1	RCV001440590;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605976	184605976	C	T	184605976	-
NM_021942.6(TRAPPC11):c.1560T>A (p.Leu520=)	60684	TRAPPC11	Uncertain significance	-1	RCV002013839;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184605987	184605987	T	A	184605987	-
NM_021942.6(TRAPPC11):c.1568-1G>A	60684	TRAPPC11	Likely pathogenic	rs1180079162	RCV000754740;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606236	184606236	G	A	NC_000004.11:g.184606236G>A	-
NM_021942.6(TRAPPC11):c.1568-1G>T	60684	TRAPPC11	Pathogenic	rs1180079162	RCV001336033;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606236	184606236	G	T	184606236	-
NM_021942.6(TRAPPC11):c.1585G>A (p.Asp529Asn)	60684	TRAPPC11	Uncertain significance	rs1735897918	RCV001307763;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606254	184606254	G	A	184606254	-
NM_021942.6(TRAPPC11):c.1597C>T (p.Arg533Trp)	60684	TRAPPC11	Uncertain significance	-1	RCV001958028;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606266	184606266	C	T	184606266	-
NM_021942.6(TRAPPC11):c.1611C>T (p.Asn537=)	60684	TRAPPC11	Likely benign	-1	RCV002117666;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606280	184606280	C	T	184606280	-
NM_021942.6(TRAPPC11):c.1612C>T (p.Leu538Phe)	60684	TRAPPC11	Uncertain significance	-1	RCV001965193;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606281	184606281	C	T	184606281	-
NM_021942.6(TRAPPC11):c.1615A>G (p.Ile539Val)	60684	TRAPPC11	Uncertain significance	rs1389363919	RCV001344935;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606284	184606284	A	G	184606284	-
NM_021942.6(TRAPPC11):c.1616T>A (p.Ile539Lys)	60684	TRAPPC11	Uncertain significance	rs1554008768	RCV000651608;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606285	184606285	T	A	4:g.184606285T>A	ClinGen:CA358867958	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1618A>G (p.Asn540Asp)	60684	TRAPPC11	Uncertain significance	rs1561045163	RCV000689942;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606287	184606287	A	G	4:g.184606287A>G	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1630-16C>T	60684	TRAPPC11	Likely benign	-1	RCV002094332;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606408	184606408	C	T	184606408	-
NM_021942.6(TRAPPC11):c.1632T>C (p.Asn544=)	60684	TRAPPC11	Likely benign	-1	RCV002106689;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606426	184606426	T	C	184606426	-
NM_021942.6(TRAPPC11):c.1639C>A (p.Pro547Thr)	60684	TRAPPC11	Uncertain significance	-1	RCV002004572;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606433	184606433	C	A	184606433	-
NM_021942.6(TRAPPC11):c.1650A>T (p.Glu550Asp)	60684	TRAPPC11	Uncertain significance	-1	RCV001895353;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606444	184606444	A	T	184606444	-
NM_021942.6(TRAPPC11):c.1654G>A (p.Asp552Asn)	60684	TRAPPC11	Uncertain significance	rs374195797	RCV000797982;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606448	184606448	G	A	4:g.184606448G>A	-
NM_021942.6(TRAPPC11):c.1661A>G (p.Asp554Gly)	60684	TRAPPC11	Uncertain significance	-1	RCV001914734;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606455	184606455	A	G	184606455	-
NM_021942.6(TRAPPC11):c.1664T>A (p.Ile555Asn)	60684	TRAPPC11	Uncertain significance	rs752315503	RCV001067627;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606458	184606458	T	A	4:g.184606458T>A	-
NM_021942.6(TRAPPC11):c.1670C>T (p.Ala557Val)	60684	TRAPPC11	Uncertain significance	-1	RCV001954063;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606464	184606464	C	T	184606464	-
NM_021942.6(TRAPPC11):c.1672G>C (p.Val558Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001965761;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606466	184606466	G	C	184606466	-
NM_021942.6(TRAPPC11):c.1703G>A (p.Arg568Gln)	60684	TRAPPC11	Uncertain significance	rs147516606	RCV000796438;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606497	184606497	G	A	4:g.184606497G>A	-
NM_021942.6(TRAPPC11):c.1708T>C (p.Ser570Pro)	60684	TRAPPC11	Uncertain significance	-1	RCV001369308;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606502	184606502	T	C	184606502	-
NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val)	60684	TRAPPC11	Uncertain significance	rs368529822	RCV000543085;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606529	184606529	A	G	NC_000004.11:g.184606529A>G	ClinGen:CA111850434	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1745A>G (p.Gln582Arg)	60684	TRAPPC11	Uncertain significance	-1	RCV001547162\|RCV001882621;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606539	184606539	A	G	184606539	-
NM_021942.6(TRAPPC11):c.1762+8G>A	60684	TRAPPC11	Likely benign	rs372102247	RCV000873229\|RCV001457249;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184606564	184606564	G	A	4:g.184606564G>A	-
NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg)	60684	TRAPPC11	Uncertain significance	rs146053783	RCV001215623;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607774	184607774	A	G	4:g.184607774A>G	-
NM_021942.6(TRAPPC11):c.1767G>T (p.Gln589His)	60684	TRAPPC11	Uncertain significance	-1	RCV002042430;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607775	184607775	G	T	184607775	-
NM_021942.6(TRAPPC11):c.1769G>A (p.Cys590Tyr)	60684	TRAPPC11	Uncertain significance	-1	RCV001924436;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607777	184607777	G	A	184607777	-
NM_021942.6(TRAPPC11):c.1784A>T (p.His595Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV002036421;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607792	184607792	A	T	184607792	-
NM_021942.6(TRAPPC11):c.1793G>A (p.Ser598Asn)	60684	TRAPPC11	Uncertain significance	rs1735985130	RCV001038412;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607801	184607801	G	A	4:g.184607801G>A	-
NM_021942.6(TRAPPC11):c.1803T>C (p.Val601=)	60684	TRAPPC11	Likely benign	-1	RCV001450244;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607811	184607811	T	C	184607811	-
NM_021942.6(TRAPPC11):c.1812T>C (p.Pro604=)	60684	TRAPPC11	Likely benign	-1	RCV002122418;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607820	184607820	T	C	184607820	-
NM_021942.6(TRAPPC11):c.1816C>A (p.Gln606Lys)	60684	TRAPPC11	Uncertain significance	-1	RCV001888327;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607824	184607824	C	A	184607824	-
NM_021942.6(TRAPPC11):c.1823A>G (p.Asp608Gly)	60684	TRAPPC11	Uncertain significance	-1	RCV001976240;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607831	184607831	A	G	184607831	-
NM_021942.6(TRAPPC11):c.1837G>C (p.Ala613Pro)	60684	TRAPPC11	Uncertain significance	rs769979581	RCV001203570;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607845	184607845	G	C	4:g.184607845G>C	-
NM_021942.6(TRAPPC11):c.1848A>G (p.Pro616=)	60684	TRAPPC11	Likely benign	-1	RCV001434685;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607856	184607856	A	G	184607856	-
NM_021942.6(TRAPPC11):c.1893+3A>G	60684	TRAPPC11	Pathogenic	rs886041053	RCV000258806;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607904	184607904	A	G	NC_000004.11:g.184607904A>G	ClinGen:CA10602645,OMIM:614138.0004	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1893+5T>A	60684	TRAPPC11	Uncertain significance	rs1735992541	RCV001219050;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607906	184607906	T	A	4:g.184607906T>A	-
NM_021942.6(TRAPPC11):c.1893+6G>C	60684	TRAPPC11	Uncertain significance	-1	RCV001891836;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607907	184607907	G	C	184607907	-
NM_021942.6(TRAPPC11):c.1893+10C>T	60684	TRAPPC11	Likely benign	-1	RCV002142489;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607911	184607911	C	T	184607911	-
NM_021942.6(TRAPPC11):c.1893+14G>A	60684	TRAPPC11	Likely benign	-1	RCV002074895;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184607915	184607915	G	A	184607915	-
NC_000004.11:g.(?_184612449)_(184633797_?)dup	60684	TRAPPC11	Uncertain significance	-1	RCV001943163;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612449	184633797	na	na	-1	-
NM_021942.6(TRAPPC11):c.1894-18C>T	60684	TRAPPC11	Likely benign	-1	RCV002138145;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612451	184612451	C	T	184612451	-
NM_021942.6(TRAPPC11):c.1894-16del	60684	TRAPPC11	Likely benign	-1	RCV002141995;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612453	184612453	CT	C	184612452	-
NM_021942.6(TRAPPC11):c.1894-10C>T	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs111381550	RCV000517286\|RCV000651620\|RCV001496199;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612459	184612459	C	T	4:g.184612459C>T	ClinGen:CA3152047	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1894-9C>T	60684	TRAPPC11	Likely benign	-1	RCV002084872;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612460	184612460	C	T	184612460	-
NM_021942.6(TRAPPC11):c.1894-7T>A	60684	TRAPPC11	Likely benign	-1	RCV001406931;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612462	184612462	T	A	184612462	-
NM_021942.6(TRAPPC11):c.1895A>G (p.Glu632Gly)	60684	TRAPPC11	Uncertain significance	rs1027270333	RCV000820200;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612470	184612470	A	G	4:g.184612470A>G	-
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser)	60684	TRAPPC11	Uncertain significance	rs148567547	RCV000517869\|RCV000560192;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612476	184612476	A	G	NC_000004.11:g.184612476A>G	ClinGen:CA3152050	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.1923A>C (p.Glu641Asp)	60684	TRAPPC11	Uncertain significance	rs772936022	RCV001343740;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612498	184612498	A	C	184612498	-
NM_021942.6(TRAPPC11):c.1934C>T (p.Ala645Val)	60684	TRAPPC11	Uncertain significance	-1	RCV002008775;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612509	184612509	C	T	184612509	-
NM_021942.6(TRAPPC11):c.1943T>C (p.Val648Ala)	60684	TRAPPC11	Uncertain significance	-1	RCV001886577;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612518	184612518	T	C	184612518	-
NM_021942.6(TRAPPC11):c.1977A>G (p.Leu659=)	60684	TRAPPC11	Likely benign	-1	RCV001453542;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612552	184612552	A	G	184612552	-
NM_021942.6(TRAPPC11):c.1978G>C (p.Val660Leu)	60684	TRAPPC11	Benign	rs67383011	RCV000247199\|RCV001521597\|RCV001722339;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184612553	184612553	G	C	NC_000004.11:g.184612553G>C	ClinGen:CA3152060	CN169374 not specified;
NM_021942.6(TRAPPC11):c.1981C>G (p.Pro661Ala)	60684	TRAPPC11	Uncertain significance	rs764163856	RCV001235710;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612556	184612556	C	G	4:g.184612556C>G	-
NM_021942.6(TRAPPC11):c.1999C>T (p.Leu667=)	60684	TRAPPC11	Likely benign	rs185988689	RCV000904457\|RCV001412618;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612574	184612574	C	T	4:g.184612574C>T	-
NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu)	60684	TRAPPC11	Uncertain significance	rs1415116624	RCV000814311;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612589	184612589	G	C	4:g.184612589G>C	-
NM_021942.6(TRAPPC11):c.2023del (p.Thr675fs)	60684	TRAPPC11	Likely pathogenic	-1	RCV001783902;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184612594	184612594	CA	C	184612593	-
NM_021942.6(TRAPPC11):c.2050-17dup	60684	TRAPPC11	Likely benign	-1	RCV002148714;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614094	184614095	T	TC	184614094	-
NM_021942.6(TRAPPC11):c.2050-18C>T	60684	TRAPPC11	Benign	-1	RCV002139754;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614095	184614095	C	T	184614095	-
NM_021942.6(TRAPPC11):c.2050-16_2050-15insG	60684	TRAPPC11	Likely benign	-1	RCV002161445;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614097	184614098	T	TG	184614097	-
NM_021942.6(TRAPPC11):c.2050-13T>A	60684	TRAPPC11	Likely benign	-1	RCV001959807;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614100	184614100	T	A	184614100	-
NM_021942.6(TRAPPC11):c.2050-6T>C	60684	TRAPPC11	Likely benign	-1	RCV002102214;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614107	184614107	T	C	184614107	-
NM_021942.6(TRAPPC11):c.2050-3T>C	60684	TRAPPC11	Uncertain significance	rs768168477	RCV001299250;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614110	184614110	T	C	184614110	-
NM_021942.6(TRAPPC11):c.2059_2064del (p.Val687_Asp688del)	60684	TRAPPC11	Uncertain significance	-1	RCV001964051;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614122	184614127	AGTGGAT	A	184614121	-
NM_021942.6(TRAPPC11):c.2067T>C (p.Leu689=)	60684	TRAPPC11	Likely benign	-1	RCV001489831;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614130	184614130	T	C	184614130	-
NM_021942.6(TRAPPC11):c.2068G>C (p.Ala690Pro)	60684	TRAPPC11	Uncertain significance	-1	RCV002048437;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614131	184614131	G	C	184614131	-
NM_021942.6(TRAPPC11):c.2070T>C (p.Ala690=)	60684	TRAPPC11	Likely benign	-1	RCV001433430;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614133	184614133	T	C	184614133	-
NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val)	60684	TRAPPC11	Uncertain significance	rs777107611	RCV000695259;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614134	184614134	C	G	NC_000004.11:g.184614134C>G	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2077A>C (p.Asn693His)	60684	TRAPPC11	Uncertain significance	-1	RCV001983829;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614140	184614140	A	C	184614140	-
NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met)	60684	TRAPPC11	Uncertain significance	rs759325090	RCV000651604;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614147	184614147	C	T	NC_000004.11:g.184614147C>T	ClinGen:CA3152103	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2085G>A (p.Thr695=)	60684	TRAPPC11	Likely benign	-1	RCV001503630;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614148	184614148	G	A	184614148	-
NM_021942.6(TRAPPC11):c.2087G>A (p.Gly696Glu)	60684	TRAPPC11	Uncertain significance	-1	RCV002032810\|RCV001764870;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184614150	184614150	G	A	184614150	-
NM_021942.6(TRAPPC11):c.2095G>A (p.Val699Met)	60684	TRAPPC11	Uncertain significance	-1	RCV001362479;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614158	184614158	G	A	184614158	-
NM_021942.6(TRAPPC11):c.2113G>A (p.Gly705Arg)	60684	TRAPPC11	Uncertain significance	-1	RCV001948395;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614176	184614176	G	A	184614176	-
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp)	60684	TRAPPC11	Uncertain significance	rs139034513	RCV001347802;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614208	184614208	A	C	184614208	-
NM_021942.6(TRAPPC11):c.2146G>T (p.Ala716Ser)	60684	TRAPPC11	Uncertain significance	-1	RCV001920300;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614209	184614209	G	T	184614209	-
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs143990563	RCV000531617\|RCV000858939;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184614210	184614210	C	G	4:g.184614210C>G	ClinGen:CA3152115	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2147C>A (p.Ala716Asp)	60684	TRAPPC11	Uncertain significance	-1	RCV001881287;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614210	184614210	C	A	184614210	-
NM_021942.6(TRAPPC11):c.2162G>A (p.Arg721Gln)	60684	TRAPPC11	Uncertain significance	-1	RCV001951962;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614225	184614225	G	A	184614225	-
NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs)	60684	TRAPPC11	Pathogenic	rs1554009901	RCV000522192\|RCV001055785;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614228	184614229	C	CT	NC_000004.11:g.184614231dup	ClinGen:CA658657408	CN517202 not provided;
NM_021942.6(TRAPPC11):c.2169C>G (p.Phe723Leu)	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs146441514	RCV000864624\|RCV001084772;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614232	184614232	C	G	4:g.184614232C>G	-
NM_021942.6(TRAPPC11):c.2177G>T (p.Arg726Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001967629;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614240	184614240	G	T	184614240	-
NM_021942.6(TRAPPC11):c.2180C>T (p.Pro727Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001952105;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614243	184614243	C	T	184614243	-
NM_021942.6(TRAPPC11):c.2187A>G (p.Leu729=)	60684	TRAPPC11	Likely benign	-1	RCV002128894;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614250	184614250	A	G	184614250	-
NM_021942.6(TRAPPC11):c.2196T>C (p.Asn732=)	60684	TRAPPC11	Likely benign	rs375844076	RCV000876303\|RCV001593106;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184614259	184614259	T	C	4:g.184614259T>C	-
NM_021942.6(TRAPPC11):c.2216T>C (p.Ile739Thr)	60684	TRAPPC11	Uncertain significance	-1	RCV002035580;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614279	184614279	T	C	184614279	-
NM_021942.6(TRAPPC11):c.2218A>G (p.Ile740Val)	60684	TRAPPC11	Uncertain significance	-1	RCV002041629;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614281	184614281	A	G	184614281	-
NM_021942.6(TRAPPC11):c.2220A>G (p.Ile740Met)	60684	TRAPPC11	Uncertain significance	-1	RCV001363845;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614283	184614283	A	G	184614283	-
NM_021942.6(TRAPPC11):c.2229A>T (p.Ala743=)	60684	TRAPPC11	Likely benign	-1	RCV002168550;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614292	184614292	A	T	184614292	-
NM_021942.6(TRAPPC11):c.2231G>A (p.Ser744Asn)	60684	TRAPPC11	Uncertain significance	rs1736342623	RCV001327558;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614294	184614294	G	A	184614294	-
NM_021942.6(TRAPPC11):c.2234C>A (p.Thr745Lys)	60684	TRAPPC11	Uncertain significance	rs768000138	RCV000703895\|RCV000993345;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184614297	184614297	C	A	4:g.184614297C>A	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2234C>T (p.Thr745Ile)	60684	TRAPPC11	Uncertain significance	-1	RCV001733716;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614297	184614297	C	T	184614297	-
NM_021942.6(TRAPPC11):c.2237+8T>G	60684	TRAPPC11	Likely benign	-1	RCV001492178;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614308	184614308	T	G	184614308	-
NM_021942.6(TRAPPC11):c.2238-4A>G	60684	TRAPPC11	Uncertain significance	rs1736369470	RCV001344904;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614738	184614738	A	G	184614738	-
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val)	60684	TRAPPC11	Uncertain significance	rs368432060	RCV000812412;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614746	184614746	A	G	4:g.184614746A>G	-
NM_021942.6(TRAPPC11):c.2252T>G (p.Val751Gly)	60684	TRAPPC11	Uncertain significance	rs1381726046	RCV001342936;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614756	184614756	T	G	184614756	-
NM_021942.6(TRAPPC11):c.2256A>G (p.Pro752=)	60684	TRAPPC11	Likely benign	-1	RCV002114137;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614760	184614760	A	G	184614760	-
NM_021942.6(TRAPPC11):c.2270A>G (p.His757Arg)	60684	TRAPPC11	Uncertain significance	-1	RCV001900044;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614774	184614774	A	G	184614774	-
NM_021942.6(TRAPPC11):c.2281dup (p.Glu761fs)	60684	TRAPPC11	Pathogenic	-1	RCV001999917;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614784	184614785	T	TG	184614784	-
NM_021942.6(TRAPPC11):c.2282A>T (p.Glu761Val)	60684	TRAPPC11	Uncertain significance	rs1554009994	RCV000556472;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614786	184614786	A	T	4:g.184614786A>T	ClinGen:CA358871228	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2284C>A (p.Pro762Thr)	60684	TRAPPC11	Uncertain significance	-1	RCV002010204;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614788	184614788	C	A	184614788	-
NM_021942.6(TRAPPC11):c.2286C>T (p.Pro762=)	60684	TRAPPC11	Likely benign	rs372771070	RCV000876425\|RCV001409466;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614790	184614790	C	T	4:g.184614790C>T	-
NM_021942.6(TRAPPC11):c.2287C>T (p.Pro763Ser)	60684	TRAPPC11	Likely benign	-1	RCV001434918;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614791	184614791	C	T	184614791	-
NM_021942.6(TRAPPC11):c.2306T>C (p.Met769Thr)	60684	TRAPPC11	Uncertain significance	rs1236250238	RCV000805662;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614810	184614810	T	C	4:g.184614810T>C	-
NM_021942.6(TRAPPC11):c.2307G>T (p.Met769Ile)	60684	TRAPPC11	Uncertain significance	rs1554010022	RCV000538046;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614811	184614811	G	T	4:g.184614811G>T	ClinGen:CA358871347	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2312G>A (p.Cys771Tyr)	60684	TRAPPC11	Uncertain significance	rs1441521643	RCV001223650;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614816	184614816	G	A	4:g.184614816G>A	-
NM_021942.6(TRAPPC11):c.2328T>C (p.Val776=)	60684	TRAPPC11	Likely benign	rs1380950836	RCV000920635\|RCV001439501;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614832	184614832	T	C	4:g.184614832T>C	-
NM_021942.6(TRAPPC11):c.2334C>T (p.Ser778=)	60684	TRAPPC11	Likely benign	-1	RCV002085055;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614838	184614838	C	T	184614838	-
NM_021942.6(TRAPPC11):c.2336A>G (p.His779Arg)	60684	TRAPPC11	Uncertain significance	-1	RCV001986428;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614840	184614840	A	G	184614840	-
NM_021942.6(TRAPPC11):c.2346C>A (p.Thr782=)	60684	TRAPPC11	Likely benign	-1	RCV001447634;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614850	184614850	C	A	184614850	-
NM_021942.6(TRAPPC11):c.2355A>G (p.Arg785=)	60684	TRAPPC11	Likely benign	-1	RCV002089413;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614859	184614859	A	G	184614859	-
NM_021942.6(TRAPPC11):c.2358T>C (p.Asp786=)	60684	TRAPPC11	Likely benign	-1	RCV001478800;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614862	184614862	T	C	184614862	-
NM_021942.6(TRAPPC11):c.2364G>A (p.Lys788=)	60684	TRAPPC11	Likely benign	-1	RCV002122174;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614868	184614868	G	A	184614868	-
NM_021942.6(TRAPPC11):c.2370C>T (p.Thr790=)	60684	TRAPPC11	Benign	rs4862234	RCV000247514\|RCV000829969\|RCV001510411;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614874	184614874	C	T	NC_000004.11:g.184614874C>T	ClinGen:CA3152163	CN169374 not specified;
NM_021942.6(TRAPPC11):c.2371G>T (p.Ala791Ser)	60684	TRAPPC11	Uncertain significance	rs1302946870	RCV001064779;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614875	184614875	G	T	4:g.184614875G>T	-
NM_021942.6(TRAPPC11):c.2384C>T (p.Pro795Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV002009534;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184614888	184614888	C	T	184614888	-
NM_021942.6(TRAPPC11):c.2387-16A>G	60684	TRAPPC11	Likely benign	-1	RCV002095758;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615054	184615054	A	G	184615054	-
NM_021942.6(TRAPPC11):c.2387-11A>G	60684	TRAPPC11	Likely benign	-1	RCV002168217;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615059	184615059	A	G	184615059	-
NM_021942.6(TRAPPC11):c.2387-8T>C	60684	TRAPPC11	Likely benign	-1	RCV001427764;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615062	184615062	T	C	184615062	-
NM_021942.6(TRAPPC11):c.2387-6T>C	60684	TRAPPC11	Likely benign	-1	RCV002173943;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615064	184615064	T	C	184615064	-
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=)	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs151021715	RCV000252478\|RCV000550686\|RCV001083378;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615071	184615071	A	C	4:g.184615071A>C	ClinGen:CA3152182	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2389C>T (p.Gln797Ter)	60684	TRAPPC11	Pathogenic	-1	RCV001956478;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615072	184615072	C	T	184615072	-
NM_021942.6(TRAPPC11):c.2399A>G (p.Asn800Ser)	60684	TRAPPC11	Uncertain significance	rs140915279	RCV000701271;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615082	184615082	A	G	4:g.184615082A>G	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2418C>T (p.His806=)	60684	TRAPPC11	Likely benign	rs146402163	RCV000951806;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615101	184615101	C	T	4:g.184615101C>T	-
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met)	60684	TRAPPC11	Uncertain significance	rs139113789	RCV000558392\|RCV001591286;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184615102	184615102	G	A	4:g.184615102G>A	ClinGen:CA3152190	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2429A>G (p.His810Arg)	60684	TRAPPC11	Uncertain significance	rs1561053683	RCV001341722;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615112	184615112	A	G	184615112	-
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs)	60684	TRAPPC11	Likely pathogenic	-1	RCV001783903;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615115	184615119	GGAACA	G	184615114	-
NM_021942.6(TRAPPC11):c.2434A>C (p.Thr812Pro)	60684	TRAPPC11	Benign	rs62358032	RCV000244013\|RCV001514708\|RCV001651245;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184615117	184615117	A	C	4:g.184615117A>C	ClinGen:CA3152195	CN169374 not specified;
NM_021942.6(TRAPPC11):c.2449G>A (p.Glu817Lys)	60684	TRAPPC11	Uncertain significance	-1	RCV001998996;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615132	184615132	G	A	184615132	-
NM_021942.6(TRAPPC11):c.2458C>T (p.Pro820Ser)	60684	TRAPPC11	Uncertain significance	rs767195120	RCV001208861;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615141	184615141	C	T	4:g.184615141C>T	-
NM_021942.6(TRAPPC11):c.2459C>T (p.Pro820Leu)	60684	TRAPPC11	Uncertain significance	rs752479011	RCV001303313;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615142	184615142	C	T	184615142	-
NM_021942.6(TRAPPC11):c.2460G>A (p.Pro820=)	60684	TRAPPC11	Uncertain significance	-1	RCV001945144;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615143	184615143	G	A	184615143	-
NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr)	60684	TRAPPC11	Benign/Likely benign	rs114471872	RCV000247359\|RCV000534582\|RCV001668577;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184615144	184615144	G	A	NC_000004.11:g.184615144G>A	ClinGen:CA3152199	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2483T>C (p.Val828Ala)	60684	TRAPPC11	Benign	rs75176151	RCV000252716\|RCV000551458\|RCV001083928;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615166	184615166	T	C	4:g.184615166T>C	ClinGen:CA3152203	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2489A>G (p.Asp830Gly)	60684	TRAPPC11	Uncertain significance	rs200068440	RCV001063790;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615172	184615172	A	G	4:g.184615172A>G	-
NM_021942.6(TRAPPC11):c.2490C>T (p.Asp830=)	60684	TRAPPC11	Likely benign	rs1020680380	RCV000904591\|RCV001402823;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615173	184615173	C	T	4:g.184615173C>T	-
NM_021942.6(TRAPPC11):c.2490C>G (p.Asp830Glu)	60684	TRAPPC11	Uncertain significance	rs1020680380	RCV001217157;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615173	184615173	C	G	4:g.184615173C>G	-
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs201868142	RCV000887597\|RCV001079068;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615191	184615191	G	A	4:g.184615191G>A	-
NM_021942.6(TRAPPC11):c.2508+5A>G	60684	TRAPPC11	Uncertain significance	rs1736402062	RCV001057711;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615196	184615196	A	G	4:g.184615196A>G	-
NM_021942.6(TRAPPC11):c.2508+15C>T	60684	TRAPPC11	Likely benign	-1	RCV002110717;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615206	184615206	C	T	184615206	-
NM_021942.6(TRAPPC11):c.2508+20A>T	60684	TRAPPC11	Likely benign	-1	RCV002194396;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615211	184615211	A	T	184615211	-
NM_021942.6(TRAPPC11):c.2509-20C>T	60684	TRAPPC11	Likely benign	-1	RCV002138468;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615737	184615737	C	T	184615737	-
NM_021942.6(TRAPPC11):c.2509-11T>C	60684	TRAPPC11	Likely benign	-1	RCV002100217;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615746	184615746	T	C	184615746	-
NM_021942.6(TRAPPC11):c.2513A>G (p.Glu838Gly)	60684	TRAPPC11	Uncertain significance	rs1554010221	RCV000527588;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615761	184615761	A	G	NC_000004.11:g.184615761A>G	ClinGen:CA358872173	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2525A>G (p.Tyr842Cys)	60684	TRAPPC11	Uncertain significance	-1	RCV001978945;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615773	184615773	A	G	184615773	-
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys)	60684	TRAPPC11	Uncertain significance	rs149626892	RCV000500950\|RCV001211088\|RCV001805119;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184615778	184615778	C	T	4:g.184615778C>T	ClinGen:CA3152224	CN169374 not specified;
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser)	60684	TRAPPC11	Uncertain significance	rs149626892	RCV000693950;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615778	184615778	C	A	NC_000004.11:g.184615778C>A	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2531G>A (p.Arg844His)	60684	TRAPPC11	Uncertain significance	rs781082721	RCV000793837;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615779	184615779	G	A	4:g.184615779G>A	-
NM_021942.6(TRAPPC11):c.2531G>C (p.Arg844Pro)	60684	TRAPPC11	Uncertain significance	-1	RCV001996401;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615779	184615779	G	C	184615779	-
NM_021942.6(TRAPPC11):c.2531G>T (p.Arg844Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001977746;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615779	184615779	G	T	184615779	-
NM_021942.6(TRAPPC11):c.2540C>T (p.Thr847Ile)	60684	TRAPPC11	Uncertain significance	rs578119880	RCV000802251;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615788	184615788	C	T	4:g.184615788C>T	-
NM_021942.6(TRAPPC11):c.2560C>A (p.Leu854Ile)	60684	TRAPPC11	Uncertain significance	rs771646323	RCV000692890;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615808	184615808	C	A	NC_000004.11:g.184615808C>A	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2573C>T (p.Ser858Phe)	60684	TRAPPC11	Uncertain significance	-1	RCV001897358;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615821	184615821	C	T	184615821	-
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs)	60684	TRAPPC11	Pathogenic	-1	RCV001785081;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615827	184615827	CT	C	184615826	-
NM_021942.6(TRAPPC11):c.2592C>T (p.Thr864=)	60684	TRAPPC11	Likely benign	rs760413718	RCV000651613;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615840	184615840	C	T	NC_000004.11:g.184615840C>T	ClinGen:CA3152235	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2615G>C (p.Cys872Ser)	60684	TRAPPC11	Uncertain significance	-1	RCV001368491;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615863	184615863	G	C	184615863	-
NM_021942.6(TRAPPC11):c.2619G>T (p.Lys873Asn)	60684	TRAPPC11	Uncertain significance	rs1260523372	RCV001210097;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615867	184615867	G	T	4:g.184615867G>T	-
NM_021942.6(TRAPPC11):c.2625del (p.His875fs)	60684	TRAPPC11	Pathogenic	rs1736442342	RCV001336034;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184615873	184615873	AC	A	184615872	-
NM_021942.6(TRAPPC11):c.2628+10dup	60684	TRAPPC11	Benign	rs150593522	RCV000547956\|RCV001288529;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN169374	4	184615879	184615880	A	AT	NC_000004.11:g.184615886dup	ClinGen:CA3152244	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2628+10del	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs150593522	RCV000539882\|RCV001080996\|RCV001701081;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN169374	4	184615880	184615880	AT	A	4:g.184615880_184615880del	ClinGen:CA3152243	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2629-20C>T	60684	TRAPPC11	Likely benign	-1	RCV002158303;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618636	184618636	C	T	184618636	-
NM_021942.6(TRAPPC11):c.2629-8T>G	60684	TRAPPC11	Likely benign	-1	RCV001467954;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618648	184618648	T	G	184618648	-
NM_021942.6(TRAPPC11):c.2637T>G (p.Thr879=)	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs148799732	RCV001222749\|RCV001538497;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184618664	184618664	T	G	4:g.184618664T>G	-
NM_021942.6(TRAPPC11):c.2638G>T (p.Val880Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001890496;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618665	184618665	G	T	184618665	-
NM_021942.6(TRAPPC11):c.2641A>G (p.Thr881Ala)	60684	TRAPPC11	Uncertain significance	rs772814181	RCV000651603;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618668	184618668	A	G	NC_000004.11:g.184618668A>G	ClinGen:CA3152264	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2643A>C (p.Thr881=)	60684	TRAPPC11	Likely benign	-1	RCV002186257;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618670	184618670	A	C	184618670	-
NM_021942.6(TRAPPC11):c.2645T>C (p.Ile882Thr)	60684	TRAPPC11	Uncertain significance	rs763006851	RCV001213491;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618672	184618672	T	C	4:g.184618672T>C	-
NM_021942.6(TRAPPC11):c.2651C>T (p.Thr884Ile)	60684	TRAPPC11	Uncertain significance	rs373484248	RCV001063981;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618678	184618678	C	T	4:g.184618678C>T	-
NM_021942.6(TRAPPC11):c.2656T>A (p.Phe886Ile)	60684	TRAPPC11	Likely benign	rs376514277	RCV000873151;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618683	184618683	T	A	4:g.184618683T>A	-
NM_021942.6(TRAPPC11):c.2661A>G (p.Pro887=)	60684	TRAPPC11	Likely benign	-1	RCV002190524;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618688	184618688	A	G	184618688	-
NM_021942.6(TRAPPC11):c.2672C>T (p.Ala891Val)	60684	TRAPPC11	Uncertain significance	-1	RCV001365297;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618699	184618699	C	T	184618699	-
NM_021942.6(TRAPPC11):c.2672C>G (p.Ala891Gly)	60684	TRAPPC11	Uncertain significance	-1	RCV002003534;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618699	184618699	C	G	184618699	-
NM_021942.6(TRAPPC11):c.2673G>A (p.Ala891=)	60684	TRAPPC11	Uncertain significance	rs531748969	RCV000802637;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618700	184618700	G	A	4:g.184618700G>A	-
NM_021942.6(TRAPPC11):c.2678A>G (p.Lys893Arg)	60684	TRAPPC11	Uncertain significance	rs759008736	RCV000702624;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618705	184618705	A	G	NC_000004.11:g.184618705A>G	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2684T>C (p.Val895Ala)	60684	TRAPPC11	Uncertain significance	rs200931036	RCV000527219;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618711	184618711	T	C	4:g.184618711T>C	ClinGen:CA3152276	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2694+1G>T	60684	TRAPPC11	Likely pathogenic	rs1186858080	RCV000539818;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618722	184618722	G	T	NC_000004.11:g.184618722G>T	ClinGen:CA358872791	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2694+14A>G	60684	TRAPPC11	Likely benign	-1	RCV002093457;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618735	184618735	A	G	184618735	-
NM_021942.6(TRAPPC11):c.2695-7G>T	60684	TRAPPC11	Likely benign	rs371163271	RCV000873336\|RCV001559528;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184618825	184618825	G	T	4:g.184618825G>T	-
NM_021942.6(TRAPPC11):c.2696T>C (p.Phe899Ser)	60684	TRAPPC11	Uncertain significance	rs777270916	RCV000532867;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618833	184618833	T	C	NC_000004.11:g.184618833T>C	ClinGen:CA3152299	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2704C>T (p.Leu902=)	60684	TRAPPC11	Likely benign	-1	RCV001425015;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618841	184618841	C	T	184618841	-
NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly)	60684	TRAPPC11	Uncertain significance	rs1398795151	RCV000694435;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618845	184618845	A	G	4:g.184618845A>G	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2710A>G (p.Arg904Gly)	60684	TRAPPC11	Uncertain significance	rs770747782	RCV001232962;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618847	184618847	A	G	4:g.184618847A>G	-
NM_021942.6(TRAPPC11):c.2712G>A (p.Arg904=)	60684	TRAPPC11	Likely benign	-1	RCV001479892;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618849	184618849	G	A	184618849	-
NM_021942.6(TRAPPC11):c.2744C>G (p.Thr915Arg)	60684	TRAPPC11	Uncertain significance	rs200936990	RCV000553276;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618881	184618881	C	G	4:g.184618881C>G	ClinGen:CA358873114	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2749C>T (p.Leu917Phe)	60684	TRAPPC11	Uncertain significance	-1	RCV001947908;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618886	184618886	C	T	184618886	-
NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn)	60684	TRAPPC11	Uncertain significance	rs753388968	RCV001211925;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618893	184618893	G	A	4:g.184618893G>A	-
NM_021942.6(TRAPPC11):c.2761T>G (p.Ser921Ala)	60684	TRAPPC11	Uncertain significance	-1	RCV001891553;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618898	184618898	T	G	184618898	-
NM_021942.6(TRAPPC11):c.2768G>C (p.Trp923Ser)	60684	TRAPPC11	Uncertain significance	rs1579213399	RCV000794615;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618905	184618905	G	C	4:g.184618905G>C	-
NM_021942.6(TRAPPC11):c.2773C>T (p.Leu925Phe)	60684	TRAPPC11	Uncertain significance	-1	RCV001370456;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618910	184618910	C	T	184618910	-
NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala)	60684	TRAPPC11	Uncertain significance	rs1219763538	RCV000651605;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618913	184618913	A	G	4:g.184618913A>G	ClinGen:CA358873256	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2778T>A (p.Thr926=)	60684	TRAPPC11	Likely benign	-1	RCV002169612;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618915	184618915	T	A	184618915	-
NM_021942.6(TRAPPC11):c.2782_2784del (p.Val928del)	60684	TRAPPC11	Uncertain significance	-1	RCV001370420;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618917	184618919	ATTG	A	184618916	-
NM_021942.6(TRAPPC11):c.2786C>G (p.Ser929Cys)	60684	TRAPPC11	Uncertain significance	rs1275717721	RCV001320457;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618923	184618923	C	G	184618923	-
NM_021942.6(TRAPPC11):c.2788A>G (p.Ser930Gly)	60684	TRAPPC11	Uncertain significance	rs1399140645	RCV001350095;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618925	184618925	A	G	184618925	-
NM_021942.6(TRAPPC11):c.2799G>C (p.Gln933His)	60684	TRAPPC11	Benign	rs62617790	RCV000244729\|RCV001513869\|RCV001722340;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184618936	184618936	G	C	4:g.184618936G>C	ClinGen:CA3152315	CN169374 not specified;
NM_021942.6(TRAPPC11):c.2817C>T (p.Thr939=)	60684	TRAPPC11	Conflicting interpretations of pathogenicity	rs778742385	RCV000912765\|RCV001415746;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618954	184618954	C	T	4:g.184618954C>T	-
NM_021942.6(TRAPPC11):c.2823G>A (p.Val941=)	60684	TRAPPC11	Likely benign	-1	RCV001484723;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618960	184618960	G	A	184618960	-
NM_021942.6(TRAPPC11):c.2829G>A (p.Gln943=)	60684	TRAPPC11	Likely benign	-1	RCV002144892;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618966	184618966	G	A	184618966	-
NM_021942.6(TRAPPC11):c.2843T>G (p.Val948Gly)	60684	TRAPPC11	Uncertain significance	rs1736618609	RCV001299315;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618980	184618980	T	G	184618980	-
NM_021942.6(TRAPPC11):c.2844G>A (p.Val948=)	60684	TRAPPC11	Likely benign	rs151179289	RCV000900518;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618981	184618981	G	A	4:g.184618981G>A	-
NM_021942.6(TRAPPC11):c.2849A>G (p.Asn950Ser)	60684	TRAPPC11	Uncertain significance	rs202170132	RCV001305005;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618986	184618986	A	G	184618986	-
NM_021942.6(TRAPPC11):c.2850T>C (p.Asn950=)	60684	TRAPPC11	Uncertain significance	rs376728526	RCV001068490;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618987	184618987	T	C	4:g.184618987T>C	-
NM_021942.6(TRAPPC11):c.2851+5G>A	60684	TRAPPC11	Uncertain significance	rs373713956	RCV000546293\|RCV001799686;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184618993	184618993	G	A	NC_000004.11:g.184618993G>A	ClinGen:CA3152332	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2851+7C>T	60684	TRAPPC11	Likely benign	-1	RCV002185308;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184618995	184618995	C	T	184618995	-
NM_021942.6(TRAPPC11):c.2851+29C>G	60684	TRAPPC11	Benign	-1	RCV001656071\|RCV001838727;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184619017	184619017	C	G	184619017	-
NM_021942.6(TRAPPC11):c.2851+42GC[2]	60684	TRAPPC11	Benign	-1	RCV001690181\|RCV001838789;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184619030	184619031	TGC	T	184619029	-
NM_021942.6(TRAPPC11):c.2851+46G>A	60684	TRAPPC11	Benign	-1	RCV001668024\|RCV001838759;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184619034	184619034	G	A	184619034	-
NC_000004.11:g.(?_184622830)_(184633797_?)del	60684	TRAPPC11	Pathogenic	-1	RCV001972464;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622830	184633797	na	na	-1	-
NM_021942.6(TRAPPC11):c.2862G>A (p.Gln954=)	60684	TRAPPC11	Likely benign	-1	RCV002181945;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622860	184622860	G	A	184622860	-
NM_021942.6(TRAPPC11):c.2869G>A (p.Glu957Lys)	60684	TRAPPC11	Uncertain significance	rs1736807463	RCV001063751;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622867	184622867	G	A	4:g.184622867G>A	-
NM_021942.6(TRAPPC11):c.2871G>A (p.Glu957=)	60684	TRAPPC11	Likely benign	-1	RCV001411754;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622869	184622869	G	A	184622869	-
NM_021942.6(TRAPPC11):c.2874T>C (p.Ser958=)	60684	TRAPPC11	Likely benign	-1	RCV002135992;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622872	184622872	T	C	184622872	-
NM_021942.6(TRAPPC11):c.2895T>G (p.Leu965=)	60684	TRAPPC11	Likely benign	-1	RCV001482889;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622893	184622893	T	G	184622893	-
NM_021942.6(TRAPPC11):c.2916T>C (p.Asn972=)	60684	TRAPPC11	Likely benign	-1	RCV001464854;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622914	184622914	T	C	184622914	-
NM_021942.6(TRAPPC11):c.2925T>G (p.Gly975=)	60684	TRAPPC11	Likely benign	-1	RCV001442579;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622923	184622923	T	G	184622923	-
NM_021942.6(TRAPPC11):c.2926G>A (p.Gly976Arg)	60684	TRAPPC11	Uncertain significance	-1	RCV001918519;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622924	184622924	G	A	184622924	-
NM_021942.6(TRAPPC11):c.2937C>T (p.Thr979=)	60684	TRAPPC11	Likely benign	rs200546920	RCV000946182;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622935	184622935	C	T	4:g.184622935C>T	-
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)	60684	TRAPPC11	Pathogenic	rs397509417	RCV000054408;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622936	184622936	G	A	4:g.184622936G>A	ClinGen:CA144539,UniProtKB:Q7Z392#VAR_070158,OMIM:614138.0001	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2941C>A (p.His981Asn)	60684	TRAPPC11	Uncertain significance	-1	RCV001918892;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622939	184622939	C	A	184622939	-
NM_021942.6(TRAPPC11):c.2942A>G (p.His981Arg)	60684	TRAPPC11	Uncertain significance	rs1554011266	RCV000559696;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622940	184622940	A	G	NC_000004.11:g.184622940A>G	ClinGen:CA358873925	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.2951T>C (p.Ile984Thr)	60684	TRAPPC11	Uncertain significance	rs756061183	RCV001225049;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622949	184622949	T	C	4:g.184622949T>C	-
NM_021942.6(TRAPPC11):c.2962A>G (p.Arg988Gly)	60684	TRAPPC11	Uncertain significance	rs1199947558	RCV001224490;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622960	184622960	A	G	4:g.184622960A>G	-
NM_021942.6(TRAPPC11):c.2963+10A>T	60684	TRAPPC11	Likely benign	-1	RCV002122091;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622971	184622971	A	T	184622971	-
NM_021942.6(TRAPPC11):c.2963+13T>G	60684	TRAPPC11	Likely benign	-1	RCV002204800;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622974	184622974	T	G	184622974	-
NM_021942.6(TRAPPC11):c.2963+14C>G	60684	TRAPPC11	Likely benign	-1	RCV002172142;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184622975	184622975	C	G	184622975	-
NM_021942.6(TRAPPC11):c.2964-19A>G	60684	TRAPPC11	Uncertain significance	-1	RCV001926633;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626113	184626113	A	G	184626113	-
NM_021942.6(TRAPPC11):c.2964-14C>G	60684	TRAPPC11	Likely benign	-1	RCV002138440;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626118	184626118	C	G	184626118	-
NM_021942.6(TRAPPC11):c.2964G>T (p.Arg988Ser)	60684	TRAPPC11	Uncertain significance	rs1736982388	RCV001327543;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626132	184626132	G	T	184626132	-
NM_021942.6(TRAPPC11):c.2967C>G (p.Thr989=)	60684	TRAPPC11	Uncertain significance	rs1736982669	RCV001247698;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626135	184626135	C	G	4:g.184626135C>G	-
NM_021942.6(TRAPPC11):c.2995A>C (p.Thr999Pro)	60684	TRAPPC11	Uncertain significance	rs1453357796	RCV001212168;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626163	184626163	A	C	4:g.184626163A>C	-
NM_021942.6(TRAPPC11):c.3001G>A (p.Val1001Ile)	60684	TRAPPC11	Uncertain significance	-1	RCV001870629;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626169	184626169	G	A	184626169	-
NM_021942.6(TRAPPC11):c.3002T>A (p.Val1001Asp)	60684	TRAPPC11	Uncertain significance	rs200989029	RCV000651609;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626170	184626170	T	A	NC_000004.11:g.184626170T>A	ClinGen:CA3152408	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3003C>T (p.Val1001=)	60684	TRAPPC11	Likely benign	-1	RCV002174349;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626171	184626171	C	T	184626171	-
NM_021942.6(TRAPPC11):c.3003C>A (p.Val1001=)	60684	TRAPPC11	Likely benign	-1	RCV002123518;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626171	184626171	C	A	184626171	-
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)	60684	TRAPPC11	Uncertain significance	rs764158202	RCV001336035;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626182	184626182	C	T	184626182	-
NM_021942.6(TRAPPC11):c.3015G>T (p.Pro1005=)	60684	TRAPPC11	Likely benign	rs532244366	RCV000651619;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626183	184626183	G	T	NC_000004.11:g.184626183G>T	ClinGen:CA3152412	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3015G>A (p.Pro1005=)	60684	TRAPPC11	Likely benign	-1	RCV001435851;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626183	184626183	G	A	184626183	-
NM_021942.6(TRAPPC11):c.3018C>T (p.His1006=)	60684	TRAPPC11	Likely benign	rs149934183	RCV000874907\|RCV001488833;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626186	184626186	C	T	4:g.184626186C>T	-
NM_021942.6(TRAPPC11):c.3019G>A (p.Val1007Met)	60684	TRAPPC11	Benign/Likely benign	rs79804817	RCV000254252\|RCV000531323\|RCV001668578;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184626187	184626187	G	A	4:g.184626187G>A	ClinGen:CA3152416	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3029A>T (p.Glu1010Val)	60684	TRAPPC11	Uncertain significance	rs773678506	RCV000543658;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626197	184626197	A	T	NC_000004.11:g.184626197A>T	ClinGen:CA3152417	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe)	60684	TRAPPC11	Uncertain significance	rs79057512	RCV001053318;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626208	184626208	C	T	4:g.184626208C>T	-
NM_021942.6(TRAPPC11):c.3055+5C>T	60684	TRAPPC11	Uncertain significance	rs763743260	RCV000560736;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626228	184626228	C	T	4:g.184626228C>T	ClinGen:CA3152422	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3055+6G>A	60684	TRAPPC11	Uncertain significance	rs373854277	RCV001071704;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626229	184626229	G	A	4:g.184626229G>A	-
NM_021942.6(TRAPPC11):c.3055+20A>C	60684	TRAPPC11	Likely benign	-1	RCV002159834;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184626243	184626243	A	C	184626243	-
NM_021942.6(TRAPPC11):c.3058C>G (p.Leu1020Val)	60684	TRAPPC11	Uncertain significance	rs1737096044	RCV001350897;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184627962	184627962	C	G	184627962	-
NM_021942.6(TRAPPC11):c.3062C>T (p.Pro1021Leu)	60684	TRAPPC11	Uncertain significance	rs371103166	RCV000427782\|RCV001240807;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184627966	184627966	C	T	4:g.184627966C>T	ClinGen:CA3152431	CN169374 not specified;
NM_021942.6(TRAPPC11):c.3063G>A (p.Pro1021=)	60684	TRAPPC11	Likely benign	-1	RCV002126763;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184627967	184627967	G	A	184627967	-
NM_021942.6(TRAPPC11):c.3067T>C (p.Phe1023Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001919270;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184627971	184627971	T	C	184627971	-
NM_021942.6(TRAPPC11):c.3074G>T (p.Arg1025Leu)	60684	TRAPPC11	Uncertain significance	rs374203755	RCV001232205;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184627978	184627978	G	T	4:g.184627978G>T	-
NM_021942.6(TRAPPC11):c.3074G>A (p.Arg1025His)	60684	TRAPPC11	Uncertain significance	-1	RCV001763322\|RCV001868413;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184627978	184627978	G	A	184627978	-
NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu)	60684	TRAPPC11	Uncertain significance	rs201494083	RCV000820066;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184627990	184627990	C	T	4:g.184627990C>T	-
NM_021942.6(TRAPPC11):c.3087G>A (p.Ser1029=)	60684	TRAPPC11	Likely benign	rs1454005639	RCV000930804;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184627991	184627991	G	A	4:g.184627991G>A	-
NM_021942.6(TRAPPC11):c.3092C>G (p.Pro1031Arg)	60684	TRAPPC11	Benign/Likely benign	rs200466260	RCV000517406\|RCV001085538\|RCV001644619;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN169374	4	184627996	184627996	C	G	NC_000004.11:g.184627996C>G	ClinGen:CA3152438	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3104A>G (p.His1035Arg)	60684	TRAPPC11	Uncertain significance	rs762555782	RCV001049676;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628008	184628008	A	G	4:g.184628008A>G	-
NM_021942.6(TRAPPC11):c.3104A>T (p.His1035Leu)	60684	TRAPPC11	Uncertain significance	-1	RCV001864580;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628008	184628008	A	T	184628008	-
NM_021942.6(TRAPPC11):c.3105C>T (p.His1035=)	60684	TRAPPC11	Likely benign	-1	RCV002094510;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628009	184628009	C	T	184628009	-
NM_021942.6(TRAPPC11):c.3106C>T (p.Leu1036=)	60684	TRAPPC11	Likely benign	-1	RCV002147969;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628010	184628010	C	T	184628010	-
NM_021942.6(TRAPPC11):c.3121G>A (p.Asp1041Asn)	60684	TRAPPC11	Uncertain significance	rs1353717821	RCV001243807;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628025	184628025	G	A	4:g.184628025G>A	-
NM_021942.6(TRAPPC11):c.3137T>C (p.Val1046Ala)	60684	TRAPPC11	Uncertain significance	-1	RCV002006686;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628041	184628041	T	C	184628041	-
NM_021942.6(TRAPPC11):c.3151G>A (p.Glu1051Lys)	60684	TRAPPC11	Uncertain significance	-1	RCV001968271;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628055	184628055	G	A	184628055	-
NM_021942.6(TRAPPC11):c.3173_3180del (p.Phe1058fs)	60684	TRAPPC11	Pathogenic	-1	RCV001972821;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628075	184628082	TGTTCTCAG	T	184628074	-
NM_021942.6(TRAPPC11):c.3185A>G (p.Lys1062Arg)	60684	TRAPPC11	Uncertain significance	rs551167738	RCV001239140;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628089	184628089	A	G	4:g.184628089A>G	-
NM_021942.6(TRAPPC11):c.3189+1G>A	60684	TRAPPC11	Likely pathogenic	-1	RCV002034247;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628094	184628094	G	A	184628094	-
NM_021942.6(TRAPPC11):c.3189+4C>T	60684	TRAPPC11	Uncertain significance	rs964098072	RCV001349378;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184628097	184628097	C	T	184628097	-
NM_021942.6(TRAPPC11):c.3190-16del	60684	TRAPPC11	Likely benign	-1	RCV002146069;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629544	184629544	GA	G	184629543	-
NM_021942.6(TRAPPC11):c.3190-14T>C	60684	TRAPPC11	Likely benign	-1	RCV002112389;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629546	184629546	T	C	184629546	-
NM_021942.6(TRAPPC11):c.3190-7G>C	60684	TRAPPC11	Likely benign	-1	RCV001463667;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629553	184629553	G	C	184629553	-
NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln)	60684	TRAPPC11	Uncertain significance	rs567387885	RCV000518307\|RCV000704222\|RCV001823145;	N	MedGen:CN169374\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184629564	184629564	G	A	4:g.184629564G>A	ClinGen:CA3152472	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3199C>T (p.Arg1067Cys)	60684	TRAPPC11	Uncertain significance	rs374734783	RCV001307251;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629569	184629569	C	T	184629569	-
NM_021942.6(TRAPPC11):c.3207C>A (p.Leu1069=)	60684	TRAPPC11	Likely benign	-1	RCV002090432;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629577	184629577	C	A	184629577	-
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser)	60684	TRAPPC11	Uncertain significance	rs141588557	RCV000549318\|RCV001764612;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184629581	184629581	G	A	NC_000004.11:g.184629581G>A	ClinGen:CA3152479	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3215C>T (p.Thr1072Met)	60684	TRAPPC11	Uncertain significance	rs147061560	RCV000557028\|RCV001770473;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184629585	184629585	C	T	NC_000004.11:g.184629585C>T	ClinGen:CA3152480	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3215C>A (p.Thr1072Lys)	60684	TRAPPC11	Uncertain significance	-1	RCV001911430;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629585	184629585	C	A	184629585	-
NM_021942.6(TRAPPC11):c.3216G>A (p.Thr1072=)	60684	TRAPPC11	Uncertain significance	-1	RCV001940633;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629586	184629586	G	A	184629586	-
NM_021942.6(TRAPPC11):c.3221A>C (p.Gln1074Pro)	60684	TRAPPC11	Uncertain significance	rs368699954	RCV001059470;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629591	184629591	A	C	4:g.184629591A>C	-
NM_021942.6(TRAPPC11):c.3228G>C (p.Met1076Ile)	60684	TRAPPC11	Uncertain significance	-1	RCV001978244;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629598	184629598	G	C	184629598	-
NM_021942.6(TRAPPC11):c.3231A>G (p.Leu1077=)	60684	TRAPPC11	Likely benign	-1	RCV002025625;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629601	184629601	A	G	184629601	-
NM_021942.6(TRAPPC11):c.3236A>G (p.Asn1079Ser)	60684	TRAPPC11	Uncertain significance	rs898762603	RCV000651607;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629606	184629606	A	G	NC_000004.11:g.184629606A>G	ClinGen:CA111870625	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3253G>T (p.Ala1085Ser)	60684	TRAPPC11	Uncertain significance	-1	RCV001987468;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629623	184629623	G	T	184629623	-
NM_021942.6(TRAPPC11):c.3270G>C (p.Leu1090=)	60684	TRAPPC11	Likely benign	-1	RCV002151585;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629640	184629640	G	C	184629640	-
NM_021942.6(TRAPPC11):c.3270G>A (p.Leu1090=)	60684	TRAPPC11	Likely benign	-1	RCV002096125;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629640	184629640	G	A	184629640	-
NM_021942.6(TRAPPC11):c.3273A>G (p.Pro1091=)	60684	TRAPPC11	Benign/Likely benign	rs113269326	RCV000516567\|RCV001082034;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629643	184629643	A	G	4:g.184629643A>G	ClinGen:CA3152490	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3276T>C (p.Ser1092=)	60684	TRAPPC11	Likely benign	rs1579231542	RCV000918035;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629646	184629646	T	C	4:g.184629646T>C	-
NM_021942.6(TRAPPC11):c.3310A>G (p.Thr1104Ala)	60684	TRAPPC11	Benign	rs78663235	RCV000552157\|RCV001084522;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629680	184629680	A	G	NC_000004.11:g.184629680A>G	ClinGen:CA3152497	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3313A>G (p.Asn1105Asp)	60684	TRAPPC11	Uncertain significance	rs770901450	RCV001042131;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629683	184629683	A	G	4:g.184629683A>G	-
NM_021942.6(TRAPPC11):c.3325A>G (p.Arg1109Gly)	60684	TRAPPC11	Uncertain significance	rs1278065030	RCV000686442;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629695	184629695	A	G	4:g.184629695A>G	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3329G>A (p.Arg1110His)	60684	TRAPPC11	Benign/Likely benign	rs369105119	RCV000548942\|RCV001566548;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184629699	184629699	G	A	NC_000004.11:g.184629699G>A	ClinGen:CA3152502	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;
NM_021942.6(TRAPPC11):c.3340A>G (p.Thr1114Ala)	60684	TRAPPC11	Uncertain significance	rs866236252	RCV000814251;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629710	184629710	A	G	4:g.184629710A>G	-
NM_021942.6(TRAPPC11):c.3342C>G (p.Thr1114=)	60684	TRAPPC11	Likely benign	rs368766677	RCV000882118\|RCV001402806;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629712	184629712	C	G	4:g.184629712C>G	-
NM_021942.6(TRAPPC11):c.3357+13A>G	60684	TRAPPC11	Likely benign	-1	RCV002149124;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184629740	184629740	A	G	184629740	-
NM_021942.6(TRAPPC11):c.3358-9A>G	60684	TRAPPC11	Likely benign	-1	RCV001492740;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184633744	184633744	A	G	184633744	-
NM_021942.6(TRAPPC11):c.3374T>C (p.Met1125Thr)	60684	TRAPPC11	Uncertain significance	-1	RCV001917728;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184633769	184633769	T	C	184633769	-
NM_021942.6(TRAPPC11):c.3377A>T (p.Asp1126Val)	60684	TRAPPC11	Uncertain significance	-1	RCV002005429;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184633772	184633772	A	T	184633772	-
NM_021942.6(TRAPPC11):c.3393T>C (p.Ala1131=)	60684	TRAPPC11	Likely benign	rs770191637	RCV000944921\|RCV001468073;	N	MedGen:CN517202\|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840	4	184633788	184633788	T	C	4:g.184633788T>C	-
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg)	60684	TRAPPC11	Uncertain significance	rs142222368	RCV000699661\|RCV000993347;	N	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356, Orphanet:369840\|MedGen:CN517202	4	184633795	184633795	T	C	4:g.184633795T>C	-	C3809236 615356 Limb-girdle muscular dystrophy, type 2S;

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