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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cardiomyopathies (D009202)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Glycogen Storage Disease (D006008)
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Glycogen Storage Disease Type IIb (D052120)
Child Nodes:
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..Mental retardation, X-linked 14 (C537454)
..Mental Retardation, X-Linked 16 (C563139)
..Mental Retardation, X-Linked 17 (C563140)
..Mental Retardation, X-Linked 19 (C563141)
..Mental Retardation, X-Linked 2 (C563135)
..Mental Retardation, X-Linked 20 (C563142)
..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..Mental Retardation, X-Linked 23 (C563144)
..Mental Retardation, X-Linked 3 (C563136)
..Mental Retardation, X-Linked 30 (C563146)
..Mental Retardation, X-Linked 31 (C563147)
..Mental Retardation, X-Linked 34 (C563148)
..Mental Retardation, X-Linked 42 (C564524)
..Mental Retardation, X-Linked 45 (C564503)
..Mental Retardation, X-Linked 46 (C564513)
..Mental Retardation, X-Linked 47 (C563151)
..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
..Mental Retardation, X-Linked 50 (C564713)
..Mental Retardation, X-Linked 52 (C564502)
..Mental Retardation, X-Linked 53 (C564533)
..Mental Retardation, X-Linked 58 (C564566)
..Mental Retardation, X-Linked 59 (C564470)
..Mental Retardation, X-Linked 63 (C564522)
..Mental Retardation, X-Linked 72 (C564547)
..Mental Retardation, X-Linked 73 (C564528)
..Mental Retardation, X-Linked 77 (C564511)
..Mental Retardation, X-Linked 78 (C564489)
..Mental Retardation, X-Linked 79 (C566876)
..Mental Retardation, X-Linked 81 (C564515)
..Mental Retardation, X-Linked 82 (C564496)
..Mental Retardation, X-Linked 84 (C564501)
..Mental Retardation, X-Linked 89 (C564036)
..Mental Retardation, X-Linked 9 (C563137)
..Mental Retardation, X-Linked 91 (C564482)
..Mental Retardation, X-Linked 92 (C564483)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked 94 (C567479)
..Mental Retardation, X-Linked 95 (C567470)
..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..Mental Retardation, X-Linked, Syp-Related (C567584)
..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental Retardation, X-Linked, With Spasticity (C566877)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microphthalmia, Syndromic 4 (C564457)
..Miles-Carpenter x-linked mental retardation syndrome (C537472)
..Mucopolysaccharidosis II (D016532)
..Opitz-Kaveggia syndrome (C537923)
..Orofaciodigital syndrome, Shashi type (C537135)
..Partington X-linked mental retardation syndrome (C536300)
..Plagiocephaly and X-linked mental retardation (C537512)
..Ppm-X Syndrome (C580387)
..Prieto X-linked mental retardation syndrome (C535274)
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Renpenning syndrome 1 (C537761)
..Rett Syndrome (D015518) 5
..Roifman syndrome (C535866)
..Schimke X-linked mental retardation syndrome (C536630)
..Siderius X-linked mental retardation syndrome (C537333)
..Snyder Robinson syndrome (C536678)
..Stocco dos Santos syndrome (C537495)
..Tranebjaerg Svejgaard syndrome (C536978)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Wittwer syndrome (C536737)
..X-linked mental retardation Gustavson type (C536759)
..X-linked mental retardation type Wittwer (C536760)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4719

Name:

Glycogen Storage Disease Type IIb

Definition:

An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.

Alternative IDs:

OMIM:300257

ParentIDs:

MESH:D006008|MESH:D009202|MESH:D038901|MESH:D040181

TreeNumbers:

C10.597.606.643.455.562 |C14.280.238.458 |C16.320.322.201 |C16.320.565.202.449.510 |C18.452.648.202.449.510

Synonyms:

Slim Mappings:

Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D052120
MeSH: D052120
OMIM: 300257;

Genes: LAMP2;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0011675	Arrhythmia
3	HP:0001640	Cardiomegaly
4	HP:0100543	Cognitive impairment
5	HP:0001644	Dilated cardiomyopathy
6	HP:0003236	Elevated circulating creatine kinase concentration
7	HP:0003458	EMG: myopathic abnormalities
8	HP:0003546	Exercise intolerance
9	HP:0003710	Exercise-induced muscle cramps
10	HP:0003700	Generalized amyotrophy
11	HP:0001263	Global developmental delay
12	HP:0001639	Hypertrophic cardiomyopathy
13	HP:0002375	Hypokinesia
14	HP:0001249	Intellectual disability	HP:0040284
15	HP:0001685	Myocardial fibrosis
16	HP:0001700	Myocardial necrosis
17	HP:0001761	Pes cavus
18	HP:0003812	Phenotypic variability
19	HP:0003701	Proximal muscle weakness
20	HP:0000505	Visual impairment
21	HP:0001716	Wolff-Parkinson-White syndrome

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_000023.11:g.(?_120431323)_(120441894_?)del	3920	LAMP2	Likely pathogenic	-1	RCV000156447;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119565178	119575749	-	-		-	C0878677 300257 Danon disease
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile)	3920	LAMP2	Likely benign	730880488	RCV000157977;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119573053	119573053	NM_013995.2:c.1189G>A	NP_054701.1:p.Val397Ile	NC_000023.10:g.119573053C>T	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.1093+1G>A	3920	LAMP2	Pathogenic	727504742	RCV000156041;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119575584	119575584	NM_002294.2:c.1093+1G>A		NC_000023.10:g.119575584C>T	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.1020delT (p.Gly341Glufs)	3920	LAMP2	Pathogenic	727504597	RCV000155777;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119575658	119575658	NM_002294.2:c.1020delT	NP_002285.1:p.Gly341Glufs	NC_000023.10:g.119575658delA	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.999delA (p.Glu334Serfs)	3920	LAMP2	Likely pathogenic	727504557	RCV000155721;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119575679	119575679	NM_002294.2:c.999delA	NP_002285.1:p.Glu334Serfs	NC_000023.10:g.119575679delT	-	C0878677 300257 Danon disease
NM_001122606.1(LAMP2):c.961T>C (p.Trp321Arg)	3920	LAMP2	Pathogenic	104894859	RCV000010664;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119575717	119575717	NM_001122606.1:c.961T>C	NP_001116078.1:p.Trp321Arg	NC_000023.10:g.119575717A>G	OMIM Allelic Variant:309060.0011	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.929-1G>A	3920	LAMP2	Likely pathogenic	727504262	RCV000154245;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119575750	119575750	NM_002294.2:c.929-1G>A		NC_000023.10:g.119575750C>T	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile)	3920	LAMP2	Pathogenic	104894858	RCV000010663; RCV000157981;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006; MedGen:CN221809	X	119576454	119576454	NM_002294.2:c.928G>A	NP_002285.1:p.Val310Ile	NC_000023.10:g.119576454C>T	OMIM Allelic Variant:309060.0010	C0878677 300257 Danon disease; CN221809 not provided
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter)	3920	LAMP2	Likely pathogenic	-1	RCV000219626;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119576470	119576470	NM_002294.2:c.912T>G	NP_002285.1:p.Tyr304Ter		-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter)	3920	LAMP2	Pathogenic	727503118	RCV000150911;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119576505	119576505	NM_002294.2:c.877C>T	NP_002285.1:p.Arg293Ter	NC_000023.10:g.119576505G>A	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.865-1G>C	3920	LAMP2	Likely pathogenic	397516752	RCV000037433;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119576518	119576518	NM_002294.2:c.865-1G>C		NC_000023.10:g.119576518C>G	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.864+3_864+6delGAGT	3920	LAMP2	Likely pathogenic;Pathogenic	397516751	RCV000037432; RCV000157986;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119580154	119580157	NM_002294.2:c.864+3_864+6delGAGT		NC_000023.10:g.119580154_119580157delACTC	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.864+1G>T	3920	LAMP2	Pathogenic	727503119	RCV000150912; RCV000157972;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006; MedGen:CN221809	X	119580159	119580159	NM_002294.2:c.864+1G>T		NC_000023.10:g.119580159C>A,NC_000023.10:g.119580159C>T	-	C0878677 300257 Danon disease; CN221809 not provided
NM_002294.2(LAMP2):c.851_852delTT (p.Phe284Cysfs)	3920	LAMP2	Pathogenic	727504648	RCV000155911;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119580172	119580173	NM_002294.2:c.851_852delTT	NP_002285.1:p.Phe284Cysfs	NC_000023.10:g.119580172_119580173delAA	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.830G>A (p.Ser277Asn)	3920	LAMP2	Uncertain significance	730880484	RCV000157970;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119580194	119580194	NM_002294.2:c.830G>A	NP_002285.1:p.Ser277Asn	NC_000023.10:g.119580194C>T	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.795C>A (p.Cys265Ter)	3920	LAMP2	Likely pathogenic;Pathogenic	730880483	RCV000208028; RCV000157969;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006; MedGen:CN221809	X	119580229	119580229	NM_002294.2:c.795C>A	NP_002285.1:p.Cys265Ter	NC_000023.10:g.119580229G>T	-	C0878677 300257 Danon disease; CN221809 not provided
NM_002294.2(LAMP2):c.742-10_742-8delTCT	3920	LAMP2	Benign	730880476	RCV000157956;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119580290	119580292	NM_002294.2:c.742-10_742-8delTCT		NC_000023.10:g.119580290_119580292delAGA	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg)	3920	LAMP2	Likely benign	145169006	RCV000037424; RCV000157955;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006; MedGen:CN169374	X	119581776	119581776	NM_002294.2:c.661G>A	NP_002285.1:p.Gly221Arg	NC_000023.10:g.119581776C>T	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease; CN169374 not specified
NM_001122606.1(LAMP2):c.651dupA (p.Pro218Thrfs)	3920	LAMP2	Pathogenic	730880493	RCV000157985;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119581786	119581786	NM_001122606.1:c.651dupA	NP_001116078.1:p.Pro218Thrfs	NC_000023.10:g.119581786dupT	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.588_589insCAACA (p.Val197Glnfs)	3920	LAMP2	Pathogenic	730880492	RCV000157984;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119581848	119581849	NM_002294.2:c.588_589insCAACA	NP_002285.1:p.Val197Glnfs	NC_000023.10:g.119581848_119581849insTGTTG	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease
NM_001122606.1(LAMP2):c.520C>T (p.Gln174Ter)	3920	LAMP2	Pathogenic	104894857	RCV000010662;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119582861	119582861	NM_001122606.1:c.520C>T	NP_001116078.1:p.Gln174Ter	NC_000023.10:g.119582861G>A	OMIM Allelic Variant:309060.0009	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.463delA (p.Ser155Valfs)	3920	LAMP2	Likely pathogenic	193922649	RCV000030113; RCV000037418;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006; MedGen:C0949658, Orphanet:ORPHA155, Orphanet:ORPHA99739,SNOMED CT:83978005	X	119582918	119582918	NM_002294.2:c.463delA	NP_002285.1:p.Ser155Valfs	NC_000023.10:g.119582918delT	-	C0878677 300257 Danon disease; C0949658 Primary familial hypertrophic cardiomyopathy
NM_001122606.1(LAMP2):c.440T>A (p.Leu147Ter)	3920	LAMP2	Pathogenic	137852527	RCV000010655;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119582941	119582941	NM_001122606.1:c.440T>A	NP_001116078.1:p.Leu147Ter	NC_000023.10:g.119582941A>T	OMIM Allelic Variant:309060.0002	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.294G>A (p.Trp98Ter)	3920	LAMP2	Pathogenic	-1	RCV000223450;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119589315	119589315	NM_002294.2:c.294G>A	NP_002285.1:p.Trp98Ter		-	C0878677 300257 Danon disease
NM_013995.2(LAMP2):c.293G>A (p.Trp98Ter)	3920	LAMP2	Pathogenic	397516740	RCV000037412; RCV000157963;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006; MedGen:CN221809	X	119589316	119589316	NM_013995.2:c.293G>A	NP_054701.1:p.Trp98Ter		-	C0878677 300257 Danon disease; CN221809 not provided
NM_002294.2(LAMP2):c.277G>A (p.Gly93Arg)	3920	LAMP2	Likely benign;Uncertain significance	727504953	RCV000156356; RCV000157962;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006; MedGen:CN169374	X	119589332	119589332	NM_002294.2:c.277G>A	NP_002285.1:p.Gly93Arg	NC_000023.10:g.119589332C>T	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease; CN169374 not specified
NM_001122606.1(LAMP2):c.217dupA (p.Thr73Asnfs)	3920	LAMP2	Likely pathogenic	397516739	RCV000037411;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119589392	119589392	NM_001122606.1:c.217dupA	NP_001116078.1:p.Thr73Asnfs	NC_000023.10:g.119589392dupT	-	C0878677 300257 Danon disease
NM_001122606.1(LAMP2):c.191delT (p.Val64Glufs)	3920	LAMP2	Likely pathogenic	397516738	RCV000037410;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119589418	119589418	NM_001122606.1:c.191delT	NP_001116078.1:p.Val64Glufs	NC_000023.10:g.119589418delA	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.183+1G>A	3920	LAMP2	Likely pathogenic	727503120	RCV000150913;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119590505	119590505	NM_002294.2:c.183+1G>A		NC_000023.10:g.119590505C>T	-	C0878677 300257 Danon disease
NM_001122606.1(LAMP2):c.183T>A (p.Tyr61Ter)	3920	LAMP2	Likely pathogenic	397516736	RCV000037407;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119590506	119590506	NM_001122606.1:c.183T>A	NP_001116078.1:p.Tyr61Ter	NC_000023.10:g.119590506A>C,NC_000023.10:g.119590506A>T	-	C0878677 300257 Danon disease
NM_001122606.1(LAMP2):c.183T>G (p.Tyr61Ter)	3920	LAMP2	Likely pathogenic	397516736	RCV000037408;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119590506	119590506	NM_001122606.1:c.183T>G	NP_001116078.1:p.Tyr61Ter	NC_000023.10:g.119590506A>C,NC_000023.10:g.119590506A>T	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.128_129dupAT (p.Ala44Metfs)	3920	LAMP2	Likely pathogenic	730880344	RCV000154670;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119590560	119590561	NM_002294.2:c.128_129dupAT	NP_002285.1:p.Ala44Metfs	NC_000023.10:g.119590560_119590561dupAT	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.121delT (p.Cys41Alafs)	3920	LAMP2	Pathogenic	727504600	RCV000155846;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119590568	119590568	NM_002294.2:c.121delT	NP_002285.1:p.Cys41Alafs	NC_000023.10:g.119590568delA	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.65-2A>G	3920	LAMP2	Pathogenic	397516743	RCV000037416;	N	MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119590626	119590626	NM_002294.2:c.65-2A>G		NC_000023.10:g.119590626T>C	-	C0878677 300257 Danon disease
NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC	3920	LAMP2	Benign;Likely benign	193922648	RCV000030112; RCV000037402; RCV000157958;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006; MedGen:C0949658, Orphanet:ORPHA155, Orphanet:ORPHA99739,SNOMED CT:83978005; MedGen:CN169374	X	119603039	119603047	NM_002294.2:c.-23_-15delGTCGCCGCC		NC_000023.10:g.119603039_119603047delGGCGGCGAC	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease; CN169374 not specified; C0949658 Primary familial hypertrophic cardiomyopathy
NM_001122606.1(LAMP2):c.-26_-15dupGCCGTCGCCGCC	3920	LAMP2	Uncertain significance	730880495	RCV000157988;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C0878677,OMIM:300257,ORPHA:34587,SNOMED CT:419097006	X	119603039	119603050	NM_001122606.1:c.-26_-15dupGCCGTCGCCGCC		NC_000023.10:g.119603039_119603050dupGGCGGCGACGGC	-	C0878544 Cardiomyopathy; C0878677 300257 Danon disease