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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, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152)
Parent Node: neuromuscular disease with dilated cardiomyopathy (MONDO:0016334)
..Starting node ..autosomal recessive limb-girdle muscular dystrophy type 2W ()
Child Nodes:
Sister Nodes:
..autosomal dominant limb-girdle muscular dystrophy type 1B ()
..autosomal recessive limb-girdle muscular dystrophy type 2C ()
..autosomal recessive limb-girdle muscular dystrophy type 2D ()
..autosomal recessive limb-girdle muscular dystrophy type 2E ()
..autosomal recessive limb-girdle muscular dystrophy type 2F ()
..autosomal recessive limb-girdle muscular dystrophy type 2M ()
..autosomal recessive limb-girdle muscular dystrophy type 2W ()
..Duchenne and Becker muscular dystrophy ()
..early-onset myopathy with fatal cardiomyopathy ()
..Emery-Dreifuss muscular dystrophy ()
..myofibrillar myopathy 1 ()
..polyglucosan body myopathy type 1 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

14788

Name:

autosomal recessive limb-girdle muscular dystrophy type 2W

Definition:

Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

Alternative IDs:

616827

ParentIDs:

TreeNumbers:

Synonyms:

autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2; LGMD2W; LIMS2 autosomal recessive limb-girdle muscular dystrophy; muscular dystrophy, limb-girdle, type 2W; muscular dystrophy, limb-girdle, type 2w; muscular dystrophy, limb-girdle, type 2W; LGMD2W

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 616827;
MSeqDR :
Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0008981	Calf muscle hypertrophy
4	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy
5	HP:0003236	Elevated serum creatine phosphokinase
6	HP:0009025	Increased connective tissue
7	HP:0003560	Muscular dystrophy NAMDC: Likely HP:0003560 Muscular dystrophy
8	HP:0003676	Progressive
9	HP:0006673	Reduced systolic function
10	HP:0003202	Skeletal muscle atrophy
11	HP:0001762	Talipes equinovarus
12	HP:0002273	Tetraparesis
13	HP:0030284	Triangular tongue

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000002.11:g.(?_127806102)_(128432598_?)del	-1	BIN1;CYP27C1;ERCC3;GPR17;IWS1;LIMS2;MAP3K2;MYO7B;P	Uncertain significance	-1	RCV001916346\|RCV001928002;	N	MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200, Orphanet:169186\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	127806102	128432598	-1	-
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro)	55679	LIMS2	Pathogenic	869025562	RCV000208564;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396914	128396914	NC_000002.11:g.128396914A>G	ClinGen:CA352153,OMIM:607908.0002	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.661-2A>C	55679	LIMS2	Pathogenic	766965539	RCV001783599;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398565	128398565	128398565	-
NM_001161403.3(LIMS2):c.238+1G>T	55679	LIMS2	Likely pathogenic	-1	RCV003340955;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412403	128412403		-
NC_000002.11:g.(?_128396836)_(128432618_?)dup	55679	LIMS2	Uncertain significance	-1	RCV000559285;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396836	128432618		-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NC_000002.11:g.(?_128396846)_(128432608_?)dup	55679	LIMS2	Uncertain significance	-1	RCV001304274;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396846	128432608	-1	-
NM_001161403.3(LIMS2):c.1020T>C (p.Ser340=)	55679	LIMS2	Likely benign	-1	RCV002580405;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396862	128396862		-
NM_001161403.3(LIMS2):c.994C>G (p.Gln332Glu)	55679	LIMS2	Uncertain significance	-1	RCV002957600;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396888	128396888	NC_000002.11:g.128396888G>C	-
NM_001161403.3(LIMS2):c.985del (p.Arg329fs)	55679	LIMS2	Uncertain significance	-1	RCV003025609;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396897	128396897	NC_000002.11:g.128396899del	-
NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu)	55679	LIMS2	Uncertain significance	377574169	RCV001874087;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396911	128396911	128396911	-
NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup)	55679	LIMS2	Uncertain significance	752066748	RCV000537734;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396912	128396913	2:g.128396912_128396913insCAGCTTCTTCAG	ClinGen:CA1862791	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.955C>T (p.Arg319Trp)	55679	LIMS2	Uncertain significance	765582704	RCV001936248;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396927	128396927	128396927	-
NM_001161403.3(LIMS2):c.946C>T (p.Leu316=)	55679	LIMS2	Likely benign	-1	RCV002937215;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396936	128396936		-
NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met)	55679	LIMS2	Uncertain significance	1682159709	RCV001036482;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396942	128396942	2:g.128396942G>T	-
NM_001161403.3(LIMS2):c.939G>A (p.Pro313=)	55679	LIMS2	Likely benign	773583305	RCV000652654;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396943	128396943	NC_000002.11:g.128396943C>T	ClinGen:CA1862800	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.927C>G (p.Tyr309Ter)	55679	LIMS2	Uncertain significance	368451336	RCV001317914;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396955	128396955	128396955	-
NM_001161403.3(LIMS2):c.927C>T (p.Tyr309=)	55679	LIMS2	Likely benign	-1	RCV002908761;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396955	128396955		-
NM_001161403.3(LIMS2):c.909C>T (p.Pro303=)	55679	LIMS2	Likely benign	374378217	RCV000553625;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396973	128396973	NC_000002.11:g.128396973G>A	ClinGen:CA1862810	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.900C>T (p.Asp300=)	55679	LIMS2	Likely benign	1553460868	RCV000652659;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396982	128396982	NC_000002.11:g.128396982G>A	ClinGen:CA428628521	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.898G>C (p.Asp300His)	55679	LIMS2	Uncertain significance	-1	RCV003134061;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396984	128396984	NC_000002.11:g.128396984C>G	-
NM_001161403.3(LIMS2):c.897C>T (p.Phe299=)	55679	LIMS2	Likely benign	375582487	RCV001498357;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396985	128396985	128396985	-
NM_001161403.3(LIMS2):c.882_884del (p.Asn294del)	55679	LIMS2	Uncertain significance	-1	RCV002866253;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396998	128397000	NC_000002.11:g.128397000_128397002del	-
NM_001161403.3(LIMS2):c.884A>G (p.Lys295Arg)	55679	LIMS2	Uncertain significance	-1	RCV003134058;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128396998	128396998	NC_000002.11:g.128396998T>C	-
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys)	55679	LIMS2	Uncertain significance	149101001	RCV000652650;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397000	128397000	NC_000002.11:g.128397000G>T	ClinGen:CA1862819	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.882C>G (p.Asn294Lys)	55679	LIMS2	Uncertain significance	149101001	RCV000816043;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397000	128397000	2:g.128397000G>C	-
NM_001161403.3(LIMS2):c.879-1G>A	55679	LIMS2	Uncertain significance	1682170683	RCV001056160;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397004	128397004	2:g.128397004C>T	-
NM_001161403.3(LIMS2):c.879-8C>T	55679	LIMS2	Likely benign	760227021	RCV002203643;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397011	128397011	128397011	-
NM_001161403.3(LIMS2):c.878+17G>A	55679	LIMS2	Likely benign	-1	RCV002904258;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397628	128397628	NC_000002.11:g.128397628C>T	-
NM_001161403.3(LIMS2):c.810G>A (p.Ser270=)	55679	LIMS2	Likely benign	752693744	RCV000652658;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397713	128397713	NC_000002.11:g.128397713C>T	ClinGen:CA1862852	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu)	55679	LIMS2	Uncertain significance	-1	RCV003131477;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397714	128397714	NC_000002.11:g.128397714G>A	-
NM_001161403.3(LIMS2):c.803-3C>T	55679	LIMS2	Uncertain significance	-1	RCV003052498;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397723	128397723	NC_000002.11:g.128397723G>A	-
NM_001161403.3(LIMS2):c.803-8C>G	55679	LIMS2	Benign	115961120	RCV000242197\|RCV000538852;	N	MedGen:CN169374\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397728	128397728	2:g.128397728G>C	ClinGen:CA1862855	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.803-14C>T	55679	LIMS2	Benign	115873946	RCV001710599\|RCV002073314;	N	MedGen:C3661900\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397734	128397734	128397734	-
NM_001161403.3(LIMS2):c.802+19T>C	55679	LIMS2	Benign	201305372	RCV002094228;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397826	128397826	128397826	-
NM_001161403.3(LIMS2):c.802+9_802+10del	55679	LIMS2	Likely benign	749417172	RCV001472196;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397835	128397836	128397834	-
NM_001161403.3(LIMS2):c.802+7C>A	55679	LIMS2	Likely benign	748150053	RCV001939605;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397838	128397838	128397838	-
NM_001161403.3(LIMS2):c.802G>T (p.Val268Leu)	55679	LIMS2	Uncertain significance	1682276394	RCV001312611;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397845	128397845	128397845	-
NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)	55679	LIMS2	Uncertain significance	-1	RCV002789411\|RCV003135275;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397848	128397848	NC_000002.11:g.128397848C>T	-
NM_001161403.3(LIMS2):c.793G>A (p.Glu265Lys)	55679	LIMS2	Uncertain significance	199761833	RCV000528993\|RCV002527915;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128397854	128397854	NC_000002.11:g.128397854C>T	ClinGen:CA1862886	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.765C>T (p.Asp255=)	55679	LIMS2	Benign/Likely benign	199994172	RCV000555255\|RCV003437282;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MedGen:C3661900	2	128397882	128397882	NC_000002.11:g.128397882G>A	ClinGen:CA1862888	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.764A>C (p.Asp255Ala)	55679	LIMS2	Uncertain significance	1682280712	RCV001296261;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397883	128397883	128397883	-
NM_001161403.3(LIMS2):c.762G>A (p.Gly254=)	55679	LIMS2	Likely benign	-1	RCV002894805;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397885	128397885		-
NM_001161403.3(LIMS2):c.759C>T (p.Phe253=)	55679	LIMS2	Likely benign	370106270	RCV002189836;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397888	128397888	128397888	-
NM_001161403.3(LIMS2):c.754-2A>G	55679	LIMS2	Uncertain significance	-1	RCV002618324;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397895	128397895	NC_000002.11:g.128397895T>C	-
NM_001161403.3(LIMS2):c.754-10C>T	55679	LIMS2	Likely benign	377539811	RCV002532000;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397903	128397903	NC_000002.11:g.128397903G>A	ClinGen:CA1862896	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.754-10C>G	55679	LIMS2	Likely benign	377539811	RCV001880695;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397903	128397903	128397903	-
NM_001161403.3(LIMS2):c.754-13G>A	55679	LIMS2	Likely benign	752006518	RCV002101506;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397906	128397906	128397906	-
NM_001161403.3(LIMS2):c.754-17G>A	55679	LIMS2	Likely benign	-1	RCV002615665;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128397910	128397910	NC_000002.11:g.128397910C>T	-
NM_001161403.3(LIMS2):c.753+9G>A	55679	LIMS2	Likely benign	200874584	RCV001459062;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398462	128398462	128398462	-
NM_001161403.3(LIMS2):c.753+8C>T	55679	LIMS2	Likely benign	201334941	RCV000945630;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398463	128398463	2:g.128398463G>A	-
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg)	55679	LIMS2	Uncertain significance	146422285	RCV000652651\|RCV000997203\|RCV002531999;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	2	128398472	128398472	2:g.128398472T>C	ClinGen:CA1862914	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.736G>A (p.Glu246Lys)	55679	LIMS2	Uncertain significance	-1	RCV003070466;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398488	128398488	NC_000002.11:g.128398488C>T	-
NM_001161403.3(LIMS2):c.735C>T (p.Cys245=)	55679	LIMS2	Likely benign	-1	RCV002898599;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398489	128398489		-
NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)	55679	LIMS2	Uncertain significance	-1	RCV003142612;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398520	128398520	NC_000002.11:g.128398520C>T	-
NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)	55679	LIMS2	Uncertain significance	-1	RCV003131478;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398521	128398521	NC_000002.11:g.128398521G>A	-
NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs)	55679	LIMS2	Uncertain significance	746910960	RCV001051138;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398552	128398555	2:g.128398552_128398555del	-
NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs)	55679	LIMS2	Uncertain significance	750940675	RCV001229910;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398558	128398559	2:g.128398558_128398559del	-
NM_001161403.3(LIMS2):c.666T>G (p.Phe222Leu)	55679	LIMS2	Uncertain significance	-1	RCV003122026;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398558	128398558	NC_000002.11:g.128398558A>C	-
NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr)	55679	LIMS2	Uncertain significance	1490885244	RCV000707140;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398563	128398563	NC_000002.11:g.128398563G>A	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.661-4G>C	55679	LIMS2	Likely benign	-1	RCV002586213;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398567	128398567	NC_000002.11:g.128398567C>G	-
NM_001161403.3(LIMS2):c.661-7C>T	55679	LIMS2	Likely benign	-1	RCV002584810;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398570	128398570	NC_000002.11:g.128398570G>A	-
NM_001161403.3(LIMS2):c.661-15C>T	55679	LIMS2	Likely benign	574749512	RCV002121750;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398578	128398578	128398578	-
NM_001161403.3(LIMS2):c.661-16C>T	55679	LIMS2	Benign	192426117	RCV002116038;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398579	128398579	128398579	-
NM_001161403.3(LIMS2):c.661-17G>A	55679	LIMS2	Likely benign	-1	RCV002730414;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398580	128398580	NC_000002.11:g.128398580C>T	-
NM_001161403.3(LIMS2):c.661-18C>T	55679	LIMS2	Likely benign	376092968	RCV002114820;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128398581	128398581	128398581	-
NM_001161403.3(LIMS2):c.636G>A (p.Ala212=)	55679	LIMS2	Likely benign	539730681	RCV002220011;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399648	128399648	128399648	-
NM_001161403.3(LIMS2):c.635C>T (p.Ala212Val)	55679	LIMS2	Uncertain significance	138275119	RCV001064150\|RCV002553952;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128399649	128399649	2:g.128399649G>A	-
NM_001161403.3(LIMS2):c.635C>A (p.Ala212Glu)	55679	LIMS2	Uncertain significance	138275119	RCV001208112;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399649	128399649	2:g.128399649G>T	-
NM_001161403.3(LIMS2):c.634G>A (p.Ala212Thr)	55679	LIMS2	Uncertain significance	-1	RCV003134055;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399650	128399650	NC_000002.11:g.128399650C>T	-
NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile)	55679	LIMS2	Uncertain significance	575987494	RCV000540224\|RCV002527914;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128399656	128399656	NC_000002.11:g.128399656C>T	ClinGen:CA1862981	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln)	55679	LIMS2	Uncertain significance	-1	RCV003134065;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399661	128399661	NC_000002.11:g.128399661C>T	-
NM_001161403.3(LIMS2):c.622C>T (p.Arg208Ter)	55679	LIMS2	Uncertain significance	146150045	RCV001036534;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399662	128399662	2:g.128399662G>A	-
NM_001161403.3(LIMS2):c.621C>T (p.Gly207=)	55679	LIMS2	Benign	138162790	RCV000652660;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399663	128399663	NC_000002.11:g.128399663G>A	ClinGen:CA1862985	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.619G>A (p.Gly207Ser)	55679	LIMS2	Uncertain significance	141505120	RCV000686445;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399665	128399665	NC_000002.11:g.128399665C>T	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.616G>A (p.Glu206Lys)	55679	LIMS2	Uncertain significance	368003558	RCV001070965;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399668	128399668	2:g.128399668C>T	-
NM_001161403.3(LIMS2):c.608G>A (p.Arg203Gln)	55679	LIMS2	Uncertain significance	779326413	RCV001070964;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399676	128399676	2:g.128399676C>T	-
NM_001161403.3(LIMS2):c.605G>A (p.Arg202His)	55679	LIMS2	Uncertain significance	148420126	RCV000798757\|RCV002538004;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128399679	128399679	2:g.128399679C>T	-
NM_001161403.3(LIMS2):c.602G>A (p.Cys201Tyr)	55679	LIMS2	Uncertain significance	112682507	RCV001968421;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399682	128399682	128399682	-
NM_001161403.3(LIMS2):c.594C>T (p.Cys198=)	55679	LIMS2	Benign	74638847	RCV000525509;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399690	128399690	NC_000002.11:g.128399690G>A	ClinGen:CA1862994	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.589A>T (p.Ile197Phe)	55679	LIMS2	Uncertain significance	1558868736	RCV000703135;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399695	128399695	NC_000002.11:g.128399695T>A	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala)	55679	LIMS2	Uncertain significance	-1	RCV003134063;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399700	128399700	NC_000002.11:g.128399700A>G	-
NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile)	55679	LIMS2	Uncertain significance	-1	RCV003131476;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399701	128399701	NC_000002.11:g.128399701C>T	-
NM_001161403.3(LIMS2):c.582C>T (p.Gly194=)	55679	LIMS2	Likely benign	766876564	RCV001396753;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399702	128399702	128399702	-
NM_001161403.3(LIMS2):c.577A>G (p.Met193Val)	55679	LIMS2	Uncertain significance	1469506308	RCV001997409;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399707	128399707	128399707	-
NM_001161403.3(LIMS2):c.566G>A (p.Cys189Tyr)	55679	LIMS2	Uncertain significance	-1	RCV003131481;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399718	128399718	NC_000002.11:g.128399718C>T	-
NM_001161403.3(LIMS2):c.539T>C (p.Leu180Pro)	55679	LIMS2	Uncertain significance	1682491108	RCV001948439;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399745	128399745	128399745	-
NM_001161403.3(LIMS2):c.535G>A (p.Glu179Lys)	55679	LIMS2	Uncertain significance	144449664	RCV000821883;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399749	128399749	2:g.128399749C>T	-
NM_001161403.3(LIMS2):c.534C>A (p.Arg178=)	55679	LIMS2	Likely benign	-1	RCV002967170;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399750	128399750		-
NM_001161403.3(LIMS2):c.533G>A (p.Arg178His)	55679	LIMS2	Uncertain significance	144584729	RCV000690274\|RCV002544870;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128399751	128399751	NC_000002.11:g.128399751C>T	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.526G>A (p.Glu176Lys)	55679	LIMS2	Uncertain significance	759040020	RCV000652652;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399758	128399758	NC_000002.11:g.128399758C>T	ClinGen:CA1863020	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.525C>T (p.Ala175=)	55679	LIMS2	Likely benign	532651765	RCV001415697;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399759	128399759	2:g.128399759G>A	-
NM_001161403.3(LIMS2):c.517C>G (p.Leu173Val)	55679	LIMS2	Uncertain significance	1200220600	RCV001979878;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399767	128399767	128399767	-
NM_001161403.3(LIMS2):c.516G>T (p.Glu172Asp)	55679	LIMS2	Uncertain significance	1377141952	RCV001957795;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399768	128399768	128399768	-
NM_001161403.3(LIMS2):c.510-11C>T	55679	LIMS2	Likely benign	-1	RCV002599996;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399785	128399785	NC_000002.11:g.128399785G>A	-
NM_001161403.3(LIMS2):c.510-12G>A	55679	LIMS2	Benign	374991949	RCV002185958;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399786	128399786	128399786	-
NM_001161403.3(LIMS2):c.510-13C>T	55679	LIMS2	Likely benign	368236220	RCV002145214;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128399787	128399787	128399787	-
NM_001161403.3(LIMS2):c.509+15C>T	55679	LIMS2	Likely benign	749682980	RCV002076395;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400483	128400483	128400483	-
NM_001161403.3(LIMS2):c.509+12G>A	55679	LIMS2	Likely benign	-1	RCV002926824;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400486	128400486	NC_000002.11:g.128400486C>T	-
NM_001161403.3(LIMS2):c.509+8C>T	55679	LIMS2	Likely benign	775246782	RCV001448739;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400490	128400490	2:g.128400490G>A	-
NM_001161403.3(LIMS2):c.509+3A>G	55679	LIMS2	Uncertain significance	746495081	RCV000797718;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400495	128400495	2:g.128400495T>C	-
NM_001161403.3(LIMS2):c.509+3A>T	55679	LIMS2	Uncertain significance	746495081	RCV001956928;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400495	128400495	128400495	-
NM_001161403.3(LIMS2):c.497G>A (p.Cys166Tyr)	55679	LIMS2	Uncertain significance	-1	RCV002938260;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400510	128400510	NC_000002.11:g.128400510C>T	-
NM_001161403.3(LIMS2):c.496T>C (p.Cys166Arg)	55679	LIMS2	Uncertain significance	-1	RCV002755999;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400511	128400511	NC_000002.11:g.128400511A>G	-
NM_001161403.3(LIMS2):c.495C>T (p.Asn165=)	55679	LIMS2	Likely benign	-1	RCV003035506;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400512	128400512		-
NM_001161403.3(LIMS2):c.471C>T (p.Asp157=)	55679	LIMS2	Likely benign	761802077	RCV001446566;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400536	128400536	2:g.128400536G>A	-
NM_001161403.3(LIMS2):c.468C>T (p.Ser156=)	55679	LIMS2	Likely benign	772862811	RCV001407310;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400539	128400539	2:g.128400539G>A	-
NM_001161403.3(LIMS2):c.465G>A (p.Arg155=)	55679	LIMS2	Likely benign	563179688	RCV001462132;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400542	128400542	128400542	-
NM_001161403.3(LIMS2):c.461T>G (p.Phe154Cys)	55679	LIMS2	Uncertain significance	-1	RCV002790768;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400546	128400546	NC_000002.11:g.128400546A>C	-
NM_001161403.3(LIMS2):c.458T>C (p.Met153Thr)	55679	LIMS2	Uncertain significance	-1	RCV003134057;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400549	128400549	NC_000002.11:g.128400549A>G	-
NM_001161403.3(LIMS2):c.454C>T (p.Leu152Phe)	55679	LIMS2	Uncertain significance	1573757070	RCV001362270;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400553	128400553	128400553	-
NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys)	55679	LIMS2	Uncertain significance	148943578	RCV001242128;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400562	128400562	2:g.128400562C>T	-
NM_001161403.3(LIMS2):c.442G>A (p.Asp148Asn)	55679	LIMS2	Uncertain significance	-1	RCV003065423;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400565	128400565	NC_000002.11:g.128400565C>T	-
NM_001161403.3(LIMS2):c.441C>A (p.Ile147=)	55679	LIMS2	Benign	199563092	RCV000875070;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400566	128400566	2:g.128400566G>T	-
NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val)	55679	LIMS2	Uncertain significance	746614706	RCV001937818;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400574	128400574	128400574	-
NM_001161403.3(LIMS2):c.431A>G (p.His144Arg)	55679	LIMS2	Uncertain significance	780102756	RCV001895298;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400576	128400576	128400576	-
NM_001161403.3(LIMS2):c.425G>A (p.Arg142Gln)	55679	LIMS2	Uncertain significance	768454144	RCV001875543\|RCV003355616;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128400582	128400582	128400582	-
NM_001161403.3(LIMS2):c.424C>T (p.Arg142Trp)	55679	LIMS2	Uncertain significance	780800196	RCV001949116;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400583	128400583	128400583	-
NM_001161403.3(LIMS2):c.420C>T (p.Cys140=)	55679	LIMS2	Likely benign	2105208940	RCV002090181;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400587	128400587	128400587	-
NM_001161403.3(LIMS2):c.399G>A (p.Lys133=)	55679	LIMS2	Benign	4662751	RCV000244901\|RCV001520376\|RCV001668557;	N	MedGen:CN169374\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MedGen:C3661900	2	128400608	128400608	NC_000002.11:g.128400608C>T	ClinGen:CA1863065	CN169374 not specified;
NM_001161403.3(LIMS2):c.386G>T (p.Arg129Leu)	55679	LIMS2	Uncertain significance	-1	RCV003134056;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400621	128400621	NC_000002.11:g.128400621C>A	-
NM_001161403.3(LIMS2):c.385C>T (p.Arg129Cys)	55679	LIMS2	Benign/Likely benign	145123078	RCV000253313\|RCV000550923\|RCV003437044;	N	MedGen:CN169374\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MedGen:C3661900	2	128400622	128400622	NC_000002.11:g.128400622G>A	ClinGen:CA1863067	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.385C>G (p.Arg129Gly)	55679	LIMS2	Uncertain significance	145123078	RCV001365301;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400622	128400622	128400622	-
NM_001161403.3(LIMS2):c.378C>G (p.Cys126Trp)	55679	LIMS2	Uncertain significance	1226628972	RCV002035970;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400629	128400629	128400629	-
NM_001161403.3(LIMS2):c.371G>A (p.Arg124Gln)	55679	LIMS2	Uncertain significance	767752155	RCV001222868\|RCV003163727;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128400636	128400636	2:g.128400636C>T	-
NM_001161403.3(LIMS2):c.370C>T (p.Arg124Trp)	55679	LIMS2	Uncertain significance	369430789	RCV000797656;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400637	128400637	2:g.128400637G>A	-
NM_001161403.3(LIMS2):c.360-4G>A	55679	LIMS2	Benign	112254310	RCV000652657;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400651	128400651	NC_000002.11:g.128400651C>T	ClinGen:CA1863072	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.360-4G>T	55679	LIMS2	Likely benign	112254310	RCV000823314;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400651	128400651	2:g.128400651C>A	-
NM_001161403.3(LIMS2):c.360-5C>T	55679	LIMS2	Likely benign	-1	RCV002591691;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400652	128400652	NC_000002.11:g.128400652G>A	-
NM_001161403.3(LIMS2):c.360-12C>T	55679	LIMS2	Likely benign	-1	RCV002667912;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128400659	128400659	NC_000002.11:g.128400659G>A	-
NM_001161417.2(GPR17):c.988G>A (p.Glu330Lys)	55679	LIMS2	Uncertain significance	562945179	RCV001330365;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128409297	128409297		-
NM_001161403.3(LIMS2):c.359+14G>A	55679	LIMS2	Likely benign	773360906	RCV000248313\|RCV002058283;	N	MedGen:CN169374\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128411984	128411984	2:g.128411984C>T	ClinGen:CA1863435	CN169374 not specified;
NM_001161403.3(LIMS2):c.359+12G>A	55679	LIMS2	Likely benign	-1	RCV003041073;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128411986	128411986	NC_000002.11:g.128411986C>T	-
NM_001161403.3(LIMS2):c.359+11C>T	55679	LIMS2	Likely benign	140921135	RCV002092846;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128411987	128411987	128411987	-
NC_000002.12:g.(?_127654414)_(127657572_?)del	55679	LIMS2	Uncertain significance	-1	RCV000813325;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128411988	128415146		-
NM_001161403.3(LIMS2):c.354C>T (p.Ala118=)	55679	LIMS2	Likely benign	201972427	RCV000652661;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412003	128412003	NC_000002.11:g.128412003G>A	ClinGen:CA1863442	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del)	55679	LIMS2	Uncertain significance	762526323	RCV001344983;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412007	128412009	128412006	-
NM_001161403.3(LIMS2):c.334C>G (p.Leu112Val)	55679	LIMS2	Uncertain significance	1684103396	RCV001874243;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412023	128412023	128412023	-
NM_001161403.3(LIMS2):c.331G>C (p.Asp111His)	55679	LIMS2	Uncertain significance	371008915	RCV001916652;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412026	128412026	128412026	-
NM_001161403.3(LIMS2):c.329C>T (p.Ala110Val)	55679	LIMS2	Uncertain significance	-1	RCV002914919;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412028	128412028	NC_000002.11:g.128412028G>A	-
NM_001161403.3(LIMS2):c.325C>T (p.Leu109=)	55679	LIMS2	Likely benign	200845999	RCV001993288;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412032	128412032	128412032	-
NM_001161403.3(LIMS2):c.319G>A (p.Val107Met)	55679	LIMS2	Uncertain significance	-1	RCV002650801;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412038	128412038	NC_000002.11:g.128412038C>T	-
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys)	55679	LIMS2	Uncertain significance	201636855	RCV000704483;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412056	128412056	2:g.128412056G>A	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.291G>A (p.Pro97=)	55679	LIMS2	Benign	11900522	RCV000536166;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412066	128412066	NC_000002.11:g.128412066C>T	ClinGen:CA1863456	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu)	55679	LIMS2	Uncertain significance	768056213	RCV000652653;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412067	128412067	NC_000002.11:g.128412067G>A	ClinGen:CA088854,OMIM:607908.0001,ClinVar:222901	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser)	55679	LIMS2	Uncertain significance	368536679	RCV000525740;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412068	128412068	NC_000002.11:g.128412068G>A	ClinGen:CA1863458	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.281A>G (p.Asn94Ser)	55679	LIMS2	Uncertain significance	766178392	RCV002039109;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412076	128412076	128412076	-
NM_001161403.3(LIMS2):c.278A>G (p.Asn93Ser)	55679	LIMS2	Uncertain significance	373800371	RCV000689267\|RCV003243255;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128412079	128412079	2:g.128412079T>C	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.271A>G (p.Met91Val)	55679	LIMS2	Uncertain significance	-1	RCV003081518;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412086	128412086	NC_000002.11:g.128412086T>C	-
NM_001161403.3(LIMS2):c.259G>A (p.Val87Ile)	55679	LIMS2	Uncertain significance	756099594	RCV000806894;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412098	128412098	2:g.128412098C>T	-
NM_001161403.3(LIMS2):c.256C>T (p.Arg86Cys)	55679	LIMS2	Uncertain significance	757640443	RCV000696746;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412101	128412101	NC_000002.11:g.128412101G>A	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.249C>T (p.Ile83=)	55679	LIMS2	Likely benign	2105291996	RCV001458490;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412108	128412108	128412108	-
NM_001161403.3(LIMS2):c.246C>A (p.Phe82Leu)	55679	LIMS2	Uncertain significance	-1	RCV002717272;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412111	128412111	NC_000002.11:g.128412111G>T	-
NM_001161403.3(LIMS2):c.239-18G>T	55679	LIMS2	Likely benign	-1	RCV002598314;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412136	128412136	NC_000002.11:g.128412136C>A	-
NM_001161403.3(LIMS2):c.238+15A>G	55679	LIMS2	Uncertain significance	-1	RCV002948368;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412389	128412389	NC_000002.11:g.128412389T>C	-
NM_001161403.3(LIMS2):c.238+9G>A	55679	LIMS2	Likely benign	767238091	RCV002113121;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412395	128412395	128412395	-
NM_001161403.3(LIMS2):c.238+4A>G	55679	LIMS2	Uncertain significance	-1	RCV003088461;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412400	128412400	NC_000002.11:g.128412400T>C	-
NM_001161403.3(LIMS2):c.238G>A (p.Gly80Ser)	55679	LIMS2	Uncertain significance	753710553	RCV001327595;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412404	128412404	128412404	-
NM_001161403.3(LIMS2):c.237C>T (p.Cys79=)	55679	LIMS2	Uncertain significance	531118175	RCV001350871;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412405	128412405	128412405	-
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr)	55679	LIMS2	Uncertain significance	181892289	RCV001071815;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412409	128412409	2:g.128412409G>T	-
NM_001161403.3(LIMS2):c.222G>A (p.Pro74=)	55679	LIMS2	Likely benign	-1	RCV003092348;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412420	128412420		-
NM_001161403.3(LIMS2):c.221C>T (p.Pro74Leu)	55679	LIMS2	Uncertain significance	-1	RCV003118674;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412421	128412421	NC_000002.11:g.128412421G>A	-
NM_001161403.3(LIMS2):c.199G>A (p.Asp67Asn)	55679	LIMS2	Uncertain significance	1017450419	RCV001965290;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412443	128412443	128412443	-
NM_001161403.3(LIMS2):c.198C>T (p.His66=)	55679	LIMS2	Likely benign	371757451	RCV002139366;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412444	128412444	128412444	-
NM_001161403.3(LIMS2):c.192C>T (p.Cys64=)	55679	LIMS2	Likely benign	142079668	RCV002082001;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412450	128412450	128412450	-
NM_001161403.3(LIMS2):c.190T>C (p.Cys64Arg)	55679	LIMS2	Uncertain significance	1684148003	RCV001039569;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412452	128412452	2:g.128412452A>G	-
NM_001161403.3(LIMS2):c.189C>T (p.Tyr63=)	55679	LIMS2	Benign	35765118	RCV000246261\|RCV000547447;	N	MedGen:CN169374\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412453	128412453	2:g.128412453G>A	ClinGen:CA1863518	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.189C>G (p.Tyr63Ter)	55679	LIMS2	Uncertain significance	35765118	RCV001215804;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412453	128412453	2:g.128412453G>C	-
NM_001161403.3(LIMS2):c.182G>A (p.Arg61Gln)	55679	LIMS2	Uncertain significance	-1	RCV003134067;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412460	128412460	NC_000002.11:g.128412460C>T	-
NM_001161403.3(LIMS2):c.181C>T (p.Arg61Trp)	55679	LIMS2	Uncertain significance	975509585	RCV001367995\|RCV002550071;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128412461	128412461	128412461	-
NM_001161403.3(LIMS2):c.172-5T>G	55679	LIMS2	Likely benign	-1	RCV002735809;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412475	128412475	NC_000002.11:g.128412475A>C	-
NM_001161403.3(LIMS2):c.172-13G>T	55679	LIMS2	Likely benign	-1	RCV002638990;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128412483	128412483	NC_000002.11:g.128412483C>A	-
NM_001161403.3(LIMS2):c.171+14dup	55679	LIMS2	Likely benign	1272057458	RCV002167827;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128414962	128414963	128414962	-
NM_001161403.3(LIMS2):c.167A>G (p.Tyr56Cys)	55679	LIMS2	Uncertain significance	752811662	RCV001362400;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128414981	128414981	128414981	-
NM_001161403.3(LIMS2):c.161T>C (p.Leu54Pro)	55679	LIMS2	Uncertain significance	1476186407	RCV001208502;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128414987	128414987	2:g.128414987A>G	-
NM_001161403.3(LIMS2):c.158G>A (p.Gly53Glu)	55679	LIMS2	Uncertain significance	-1	RCV003131479;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128414990	128414990	NC_000002.11:g.128414990C>T	-
NM_001161403.3(LIMS2):c.155A>G (p.Glu52Gly)	55679	LIMS2	Uncertain significance	-1	RCV003134059;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128414993	128414993	NC_000002.11:g.128414993T>C	-
NM_001161403.3(LIMS2):c.154G>A (p.Glu52Lys)	55679	LIMS2	Uncertain significance	374235568	RCV001059193\|RCV002554415;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128414994	128414994	2:g.128414994C>T	-
NM_001161403.3(LIMS2):c.153C>T (p.Pro51=)	55679	LIMS2	Likely benign	144872986	RCV000537541;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128414995	128414995	NC_000002.11:g.128414995G>A	ClinGen:CA1863556	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr)	55679	LIMS2	Uncertain significance	202166665	RCV001371481;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415003	128415003	128415003	-
NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)	55679	LIMS2	Uncertain significance	-1	RCV002682227\|RCV003134691;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415005	128415005	NC_000002.11:g.128415005C>T	-
NM_001161403.3(LIMS2):c.130G>A (p.Ala44Thr)	55679	LIMS2	Uncertain significance	1296516266	RCV001942695;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415018	128415018	128415018	-
NM_001161403.3(LIMS2):c.121T>C (p.Phe41Leu)	55679	LIMS2	Uncertain significance	372067171	RCV001211481\|RCV002561759;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128415027	128415027	2:g.128415027A>G	-
NM_001161403.3(LIMS2):c.116_119dup (p.Cys40Ter)	55679	LIMS2	Uncertain significance	-1	RCV002649572;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415028	128415029	NC_000002.11:g.128415029_128415032dup	-
NM_001161403.3(LIMS2):c.114G>C (p.Glu38Asp)	55679	LIMS2	Uncertain significance	374132948	RCV001054944;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415034	128415034	2:g.128415034C>G	-
NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter)	55679	LIMS2	Uncertain significance	752899664	RCV000802808;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415040	128415040	2:g.128415040G>T	-
NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys)	55679	LIMS2	Uncertain significance	-1	RCV003134066;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415041	128415041	NC_000002.11:g.128415041T>C	-
NM_001161403.3(LIMS2):c.95A>G (p.Asn32Ser)	55679	LIMS2	Likely benign	764187109	RCV002064681;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415053	128415053	2:g.128415053T>C	-
NM_001161403.3(LIMS2):c.89A>G (p.Asn30Ser)	55679	LIMS2	Uncertain significance	-1	RCV003117157;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415059	128415059	NC_000002.11:g.128415059T>C	-
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys)	55679	LIMS2	Uncertain significance	375142763	RCV001363491;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415069	128415069	128415069	-
NM_001161403.3(LIMS2):c.75C>T (p.Ala25=)	55679	LIMS2	Likely benign	199821222	RCV001414384;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415073	128415073	2:g.128415073G>A	-
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr)	55679	LIMS2	Uncertain significance	201527546	RCV000699421;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415075	128415075	2:g.128415075C>T	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.68C>T (p.Ser23Phe)	55679	LIMS2	Uncertain significance	-1	RCV002918054;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415080	128415080	NC_000002.11:g.128415080G>A	-
NM_001161403.3(LIMS2):c.61C>T (p.Arg21Cys)	55679	LIMS2	Uncertain significance	745803442	RCV001339623;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415087	128415087	128415087	-
NM_001161403.3(LIMS2):c.61C>A (p.Arg21Ser)	55679	LIMS2	Uncertain significance	-1	RCV002304665;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415087	128415087	128415087	-
NM_001161403.3(LIMS2):c.50G>A (p.Arg17His)	55679	LIMS2	Uncertain significance	775450533	RCV001874929;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415098	128415098	128415098	-
NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys)	55679	LIMS2	Uncertain significance	760929162	RCV001362963\|RCV002548547;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128415099	128415099	128415099	-
NM_001161403.3(LIMS2):c.40G>A (p.Val14Met)	55679	LIMS2	Uncertain significance	-1	RCV003134064;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415108	128415108	NC_000002.11:g.128415108C>T	-
NM_001161403.3(LIMS2):c.39C>T (p.Ala13=)	55679	LIMS2	Benign/Likely benign	143117627	RCV000559223\|RCV002263810;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MedGen:C3661900	2	128415109	128415109	NC_000002.11:g.128415109G>A	ClinGen:CA1863594	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.36C>T (p.Asn12=)	55679	LIMS2	Likely benign	150714487	RCV000254235\|RCV000544408;	N	MedGen:CN169374\|MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415112	128415112	2:g.128415112G>A	ClinGen:CA1863597	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.24C>T (p.Asp8=)	55679	LIMS2	Likely benign	755783718	RCV002066129;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415124	128415124	2:g.128415124G>A	-
NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu)	55679	LIMS2	Uncertain significance	369093987	RCV001932262;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415128	128415128	128415128	-
NM_001161403.3(LIMS2):c.17T>C (p.Met6Thr)	55679	LIMS2	Uncertain significance	2105304195	RCV001890516;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415131	128415131	128415131	-
NM_001161403.3(LIMS2):c.14A>G (p.Asn5Ser)	55679	LIMS2	Uncertain significance	772186673	RCV001351779;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128415134	128415134	128415134	-
NM_001161403.3(LIMS2):c.12-6739G>A	55679	LIMS2	Benign	763417527	RCV000702164;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128421875	128421875	2:g.128421875C>T	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.12-6748A>G	55679	LIMS2	Uncertain significance	968524490	RCV000692806;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128421884	128421884	NC_000002.11:g.128421884T>C	-	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.12-6755G>A	55679	LIMS2	Likely benign	529824211	RCV000652655;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128421891	128421891	NC_000002.11:g.128421891C>T	ClinGen:CA55389813	C4225192 616827 Muscular dystrophy, limb-girdle, type 2W;
NM_001161403.3(LIMS2):c.12-6769C>G	55679	LIMS2	Uncertain significance	924276736	RCV000792684\|RCV002535878;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801\|MeSH:D030342,MedGen:C0950123	2	128421905	128421905	2:g.128421905G>C	-
NM_001161403.3(LIMS2):c.12-6783G>A	55679	LIMS2	Uncertain significance	975497154	RCV000808440;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128421919	128421919	2:g.128421919C>T	-
NM_001161403.3(LIMS2):c.11+1332_11+1333dup	55679	LIMS2	Uncertain significance	140836565	RCV001036205;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431254	128431255	2:g.128431254_128431255insCA	-
NM_001161403.3(LIMS2):c.11+1330G>A	55679	LIMS2	Uncertain significance	113414022	RCV001059901;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431258	128431258	2:g.128431258C>T	-
NM_001161403.3(LIMS2):c.11+1328G>A	55679	LIMS2	Likely benign	368890874	RCV002163849;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431260	128431260	128431260	-
NM_001161403.3(LIMS2):c.11+1326T>C	55679	LIMS2	Likely benign	371665020	RCV001416339;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431262	128431262	128431262	-
NM_001161403.3(LIMS2):c.11+1305G>A	55679	LIMS2	Uncertain significance	991541495	RCV001878619;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431283	128431283	128431283	-
NM_001161403.3(LIMS2):c.11+1305G>T	55679	LIMS2	Uncertain significance	991541495	RCV001931027;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431283	128431283	128431283	-
NM_001161403.3(LIMS2):c.11+1304C>T	55679	LIMS2	Likely benign	909176511	RCV001427963;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431284	128431284	128431284	-
NM_001161403.3(LIMS2):c.11+1291C>G	55679	LIMS2	Uncertain significance	-1	RCV003131475;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431297	128431297	NC_000002.11:g.128431297G>C	-
NM_001161403.3(LIMS2):c.11+1287G>T	55679	LIMS2	Uncertain significance	-1	RCV003134060;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431301	128431301	NC_000002.11:g.128431301C>A	-
NM_001161403.3(LIMS2):c.11+1282G>C	55679	LIMS2	Uncertain significance	1419776330	RCV001916400;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431306	128431306	128431306	-
NM_001161403.3(LIMS2):c.11+1274A>G	55679	LIMS2	Likely benign	746982868	RCV002124306;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128431314	128431314	128431314	-
NM_001161403.3(LIMS2):c.11+16C>A	55679	LIMS2	Likely benign	-1	RCV003086174;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128432572	128432572	NC_000002.11:g.128432572G>T	-
NM_001161403.3(LIMS2):c.11+16C>T	55679	LIMS2	Likely benign	-1	RCV003083733;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128432572	128432572	NC_000002.11:g.128432572G>A	-
NM_001161403.3(LIMS2):c.6G>A (p.Thr2=)	55679	LIMS2	Uncertain significance	1685444261	RCV001069847;	N	MONDO:MONDO:0014788,MedGen:C4225192,OMIM:616827, Orphanet:466801	2	128432593	128432593	2:g.128432593C>T	-

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