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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: Urinary Bladder Diseases (D001745)
Parent Node: Urologic Neoplasms (D014571)
..Starting node ..Urinary Bladder Neoplasms (D001749)
Child Nodes:
........Urachal adenocarcinoma (C536474)
........Urachal cancer (C536475)
Sister Nodes:
..Kidney Neoplasms (D007680) 23
..Ureteral Neoplasms (D014516)
..Urethral Neoplasms (D014523)
..Urinary Bladder Neoplasms (D001749) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11415

Name:

Urinary Bladder Neoplasms

Definition:

Tumors or cancer of the URINARY BLADDER.

Alternative IDs:

OMIM:109800

ParentIDs:

MESH:D001745|MESH:D014571

TreeNumbers:

C04.588.945.947.960 |C12.758.820.968 |C12.777.829.813 |C13.351.937.820.945 |C13.351.968.829.707

Synonyms:

Slim Mappings:

Cancer|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D001749
MeSH: D001749
OMIM: 109800;

Genes: FGFR3; HRAS; KRAS; RB1; TACC3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0006740	Transitional cell carcinoma of the bladder

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
NM_005343.3(HRAS):c.35G>T (p.Gly12Val)	-1	-	Pathogenic	104894230	RCV000013432; RCV000013433; RCV000032850; RCV000013431; RCV000157912;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0587248,OMIM:218040,ORPHA:3071,SNOMED CT:309776008; MedGen:C1968782; MedGen:CN221809	11	534288	534288	NM_005343.3:c.35G>T	NP_005334.1:p.Gly12Val		OMIM Allelic Variant:190020.0001	C0587248 218040 Costello syndrome; C0334082 162900 Epidermal nevus; C0005684 109800 Malignant tumor of urinary bladder; C1838979 252010 Mitochondrial complex I deficiency; C1968782 Myopathy, congenital, with excess of muscle spindles; CN221809 not prov
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys)	2261	FGFR3	Pathogenic	121913483	RCV000017742; RCV000017744; RCV000017745; RCV000017743;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0022603,OMIM:182000; MedGen:C0302592,OMIM:603956,SNOMED CT:285432005; MedGen:C1868678,OMIM:187600	4	1803568	1803568	NM_000142.4:c.746C>G	NP_000133.1:p.Ser249Cys	NC_000004.11:g.1803568C>G	OMIM Allelic Variant:134934.0013	C0302592 603956 Carcinoma of cervix; C0022603 182000 Keratosis, seborrheic; C0005684 109800 Malignant tumor of urinary bladder; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln)	2261	FGFR3	Pathogenic	78311289	RCV000017757; RCV000144153;	Y	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002	4	1807889	1807889	NM_000142.4:c.1948A>C	NP_000133.1:p.Lys650Gln	NC_000004.11:g.1807889A>C,NC_000004.11:g.1807889A>G	OMIM Allelic Variant:134934.0022,OMIM Allelic Variant:134934.0024	C0410529 146000 Hypochondroplasia; C0005684 109800 Malignant tumor of urinary bladder
NM_033360.3(KRAS):c.34G>C (p.Gly12Arg)	3845	KRAS	Pathogenic	121913530	RCV000013407; RCV000154401; RCV000013408;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0007131,SNOMED CT:254637007; MedGen:C0149782	12	25398285	25398285	NM_033360.3:c.34G>C	NP_203524.1:p.Gly12Arg	NC_000012.11:g.25398285C>A,NC_000012.11:g.25398285C>G,NC_000012.11:g.25398285C>T	OMIM Allelic Variant:190070.0002	C0005684 109800 Malignant tumor of urinary bladder; C0007131 Non-small cell lung cancer; C0149782 Squamous cell carcinoma of lung
NM_005590.3(MRE11A):c.*2731G>A	4361	MRE11A	other	397509349	RCV000054453;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94150560	94150560	NM_005590.3:c.*2731G>A		NC_000011.9:g.94150560C>T	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.*1359T>C	4361	MRE11A	other	397509348	RCV000054452;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94151932	94151932	NM_005590.3:c.*1359T>C		NC_000011.9:g.94151932A>G	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.*631C>T	4361	MRE11A	other	397509347	RCV000054455;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94152660	94152660	NM_005590.3:c.*631C>T		NC_000011.9:g.94152660G>A	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.*570A>C	4361	MRE11A	other	397509346	RCV000054454;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94152721	94152721	NM_005590.3:c.*570A>C		NC_000011.9:g.94152721T>G	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1783+888A>G	4361	MRE11A	other	397509358	RCV000054470;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94179497	94179497	NM_005590.3:c.1783+888A>G		NC_000011.9:g.94179497T>C	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1783+561G>A	4361	MRE11A	other	397509357	RCV000054469;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94179824	94179824	NM_005590.3:c.1783+561G>A		NC_000011.9:g.94179824C>T	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1563+281G>A	4361	MRE11A	other	397509429	RCV000054487;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94189161	94189161	NM_005590.3:c.1563+281G>A		NC_000011.9:g.94189161C>T	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1327-461A>C	4361	MRE11A	other	185485357	RCV000054468;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94193208	94193208	NM_005590.3:c.1327-461A>C		NC_000011.9:g.94193208T>G	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1225+804T>C	4361	MRE11A	other	397509356	RCV000054467;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94196475	94196475	NM_005590.3:c.1225+804T>C		NC_000011.9:g.94196475A>G	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1225+605T>C	4361	MRE11A	other	397509355	RCV000054466;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94196674	94196674	NM_005590.3:c.1225+605T>C		NC_000011.9:g.94196674A>G	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1225+577A>C	4361	MRE11A	other	397509354	RCV000054465;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94196702	94196702	NM_005590.3:c.1225+577A>C		NC_000011.9:g.94196702T>G	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1225+572A>T	4361	MRE11A	other	397509353	RCV000054464;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94196707	94196707	NM_005590.3:c.1225+572A>T		NC_000011.9:g.94196707T>A	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1225+40T>C	4361	MRE11A	other	192979170	RCV000054463;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94197239	94197239	NM_005590.3:c.1225+40T>C		NC_000011.9:g.94197239A>G	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1202A>G (p.His401Arg)	4361	MRE11A	other	146779325	RCV000054462;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94197302	94197302	NM_005590.3:c.1202A>G	NP_005581.2:p.His401Arg	NC_000011.9:g.94197302T>C	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1098+1620T>C	4361	MRE11A	other	397509352	RCV000054460;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94199359	94199359	NM_005590.3:c.1098+1620T>C		NC_000011.9:g.94199359A>G	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1098+1408A>G	4361	MRE11A	other	200367125	RCV000054459;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94199571	94199571	NM_005590.3:c.1098+1408A>G		NC_000011.9:g.94199571T>C	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1098+1177G>A	4361	MRE11A	other	369782842	RCV000054458;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94199802	94199802	NM_005590.3:c.1098+1177G>A		NC_000011.9:g.94199802C>T	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.1098+614C>T	4361	MRE11A	other	140067184	RCV000054461;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94200365	94200365	NM_005590.3:c.1098+614C>T		NC_000011.9:g.94200365G>A	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.545-297G>T	4361	MRE11A	other	118024137	RCV000054473;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94209866	94209866	NM_005590.3:c.545-297G>T		NC_000011.9:g.94209866C>A	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.314+99A>G	4361	MRE11A	other	143677623	RCV000054472;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94218991	94218991	NM_005590.3:c.314+99A>G		NC_000011.9:g.94218991T>C	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.20+821G>A	4361	MRE11A	other	397509351	RCV000054471;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94225127	94225127	NM_005590.3:c.20+821G>A		NC_000011.9:g.94225127C>T	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.-105-326A>T	4361	MRE11A	other	183829476	RCV000054456;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94226398	94226398	NM_005590.3:c.-105-326A>T		NC_000011.9:g.94226398T>A	-	C0005684 109800 Malignant tumor of urinary bladder
NM_005590.3(MRE11A):c.-106+391C>T	4361	MRE11A	other	397509350	RCV000054457;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	11	94226459	94226459	NM_005590.3:c.-106+391C>T		NC_000011.9:g.94226459G>A	-	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=)	7248	TSC1	Benign;Likely benign	35593170	RCV000206605; RCV000054911; RCV000042275; RCV000118694; RCV000163278;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135771793	135771793	NM_000368.4:c.3324C>T	NP_000359.1:p.Gly1108=	NC_000009.11:g.135771793G>A	Tuberous sclerosis database (TSC1):TSC1_00189	C0027672 Hereditary cancer-predisposing syndrome; C0005684 109800 Malignant tumor of urinary bladder; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=)	7248	TSC1	Likely benign	118203751	RCV000054986; RCV000042272; RCV000163601;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135771814	135771814	NM_000368.4:c.3303G>A	NP_000359.1:p.Glu1101=	NC_000009.11:g.135771814C>T	Tuberous sclerosis database (TSC1):TSC1_00377	C0027672 Hereditary cancer-predisposing syndrome; C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.3030G>T (p.Glu1010Asp)	7248	TSC1	not provided	118203741	RCV000042262;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135772087	135772087	NM_000368.4:c.3030G>T	NP_000359.1:p.Glu1010Asp	NC_000009.11:g.135772087C>A	Tuberous sclerosis database (TSC1):TSC1_00371	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.2829C>T (p.Ala943=)	7248	TSC1	Benign;Likely benign	4962081	RCV000054906; RCV000042257; RCV000118693; RCV000055028; RCV000162946;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:CN169374	9	135772717	135772717	NM_000368.4:c.2829C>T	NP_000359.1:p.Ala943=	NC_000009.11:g.135772717G>A	Tuberous sclerosis database (TSC1):TSC1_00184	C0027672 Hereditary cancer-predisposing syndrome; C0751674 606690 Lymphangiomyomatosis; C0005684 109800 Malignant tumor of urinary bladder; CN169374 not specified; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2646C>T (p.Ala882=)	7248	TSC1	Benign;Likely benign;Uncertain significance	118203720	RCV000054945; RCV000042235; RCV000125633; RCV000163300;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:CN169374	9	135772977	135772977	NM_000368.4:c.2646C>T	NP_000359.1:p.Ala882=	NC_000009.11:g.135772977G>A	Tuberous sclerosis database (TSC1):TSC1_00176	C0027672 Hereditary cancer-predisposing syndrome; C0005684 109800 Malignant tumor of urinary bladder; CN169374 not specified; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2626-4T(17_21)	7248	TSC1	not provided	397514773	RCV000054873; RCV000054890;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135773001	135773018	NM_000368.4:c.2626-4T(17_21)			Tuberous sclerosis database (TSC1):TSC1_00175	C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2625+1G>A	7248	TSC1	not provided	118203715	RCV000042232;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135776101	135776101	NM_000368.4:c.2625+1G>A		NC_000009.11:g.135776101C>T	Tuberous sclerosis database (TSC1):TSC1_00368	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.2080C>T (p.Gln694Ter)	7248	TSC1	not provided	397514789	RCV000054918; RCV000054897;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135779166	135779166	NM_000368.4:c.2080C>T	NP_000359.1:p.Gln694Ter	NC_000009.11:g.135779166G>A	Tuberous sclerosis database (TSC1):TSC1_00612	C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter)	7248	TSC1	Pathogenic	118203631	RCV000201087; RCV000054891; RCV000042136;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135779172	135779172	NM_000368.4:c.2074C>T	NP_000359.1:p.Arg692Ter	NC_000009.11:g.135779172G>A	Tuberous sclerosis database (TSC1):TSC1_00130	C0005684 109800 Malignant tumor of urinary bladder; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1997+71_1997+72del	7248	TSC1	not provided	118203612	RCV000042116;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135780896	135780897	NM_000368.4:c.1997+71_1997+72del		NC_000009.11:g.135780896_135780897delCT	Tuberous sclerosis database (TSC1):TSC1_00357	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.1958_1959delTA (p.Ile653Thrfs)	7248	TSC1	not provided	118203602	RCV000042107;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135781006	135781007	NM_000368.4:c.1958_1959delTA	NP_000359.1:p.Ile653Thrfs	NC_000009.11:g.135781006_135781007delTA	Tuberous sclerosis database (TSC1):TSC1_00355	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.1907_1908delAG (p.Glu636Glyfs)	7248	TSC1	not provided	118203599	RCV000054920; RCV000042103;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135781057	135781058	NM_000368.4:c.1907_1908delAG	NP_000359.1:p.Glu636Glyfs	NC_000009.11:g.135781057_135781058delCT	Tuberous sclerosis database (TSC1):TSC1_00118	C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1727_1748del22insG (p.Leu576_Pro583delinsCys)	7248	TSC1	not provided	118203569	RCV000042071;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135781217	135781238	NM_000368.4:c.1727_1748del22insG	NP_000359.1:p.Leu576_Pro583delinsCys	NC_000009.11:g.135781217_135781238del22insC	Tuberous sclerosis database (TSC1):TSC1_00349	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.1726T>C (p.Leu576=)	7248	TSC1	Benign	118203567	RCV000206175; RCV000055008; RCV000042069; RCV000174844; RCV000162960;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135781239	135781239	NM_000368.4:c.1726T>C	NP_000359.1:p.Leu576=	NC_000009.11:g.135781239A>G	Tuberous sclerosis database (TSC1):TSC1_00274	C0027672 Hereditary cancer-predisposing syndrome; C0005684 109800 Malignant tumor of urinary bladder; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1669delC (p.Leu557Cysfs)	7248	TSC1	not provided	118203556	RCV000054884; RCV000042058;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135781296	135781296	NM_000368.4:c.1669delC	NP_000359.1:p.Leu557Cysfs	NC_000009.11:g.135781296delG	Tuberous sclerosis database (TSC1):TSC1_00216	C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter)	7248	TSC1	not provided	118203549	RCV000054972; RCV000042051;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135781386	135781386	NM_000368.4:c.1579C>T	NP_000359.1:p.Gln527Ter	NC_000009.11:g.135781386G>A	Tuberous sclerosis database (TSC1):TSC1_00422	C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter)	7248	TSC1	Pathogenic	118203542	RCV000201132; RCV000055036; RCV000042043; RCV000189847;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN221809	9	135781440	135781440	NM_000368.4:c.1525C>T	NP_000359.1:p.Arg509Ter	NC_000009.11:g.135781440G>A	Tuberous sclerosis database (TSC1):TSC1_00096	C0005684 109800 Malignant tumor of urinary bladder; CN221809 not provided; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1354G>C (p.Gly452Arg)	7248	TSC1	not provided	118203519	RCV000042018;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135782202	135782202	NM_000368.4:c.1354G>C	NP_000359.1:p.Gly452Arg	NC_000009.11:g.135782202C>G	Tuberous sclerosis database (TSC1):TSC1_00340	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile)	7248	TSC1	not provided	77464996	RCV000055012; RCV000041999;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135785971	135785971	NM_000368.4:c.1250C>T	NP_000359.1:p.Thr417Ile	NC_000009.11:g.135785971G>A	Tuberous sclerosis database (TSC1):TSC1_00335	C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1142-33A>G	7248	TSC1	not provided	6597586	RCV000055040; RCV000041994;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135786112	135786112	NM_000368.4:c.1142-33A>G		NC_000009.11:g.135786112T>C	Tuberous sclerosis database (TSC1):TSC1_00076	C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1041G>A (p.Trp347Ter)	7248	TSC1	not provided	118203491	RCV000041982;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135786489	135786489	NM_000368.4:c.1041G>A	NP_000359.1:p.Trp347Ter	NC_000009.11:g.135786489C>T	Tuberous sclerosis database (TSC1):TSC1_00334	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.965T>C (p.Met322Thr)	7248	TSC1	Benign;Likely benign	1073123	RCV000054992; RCV000054853; RCV000034613; RCV000118695; RCV000054997; RCV000162954;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:CN169374; MedGen:CN221809	9	135786904	135786904	NM_000368.4:c.965T>C	NP_000359.1:p.Met322Thr	NC_000009.11:g.135786904A>G	Tuberous sclerosis database (TSC1):TSC1_00065	C0027672 Hereditary cancer-predisposing syndrome; C0751674 606690 Lymphangiomyomatosis; C0005684 109800 Malignant tumor of urinary bladder; CN221809 not provided; CN169374 not specified; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.664-1G>A	7248	TSC1	not provided	118203423	RCV000042333;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135796824	135796824	NM_000368.4:c.664-1G>A		NC_000009.11:g.135796824C>G,NC_000009.11:g.135796824C>T	Tuberous sclerosis database (TSC1):TSC1_00324	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.663+1G>A	7248	TSC1	not provided	118203419	RCV000042329;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135797205	135797205	NM_000368.4:c.663+1G>A		NC_000009.11:g.135797205C>T	Tuberous sclerosis database (TSC1):TSC1_00323	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.658G>T (p.Val220Phe)	7248	TSC1	not provided	397514830	RCV000054963;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135797211	135797211	NM_000368.4:c.658G>T	NP_000359.1:p.Val220Phe	NC_000009.11:g.135797211C>A	Tuberous sclerosis database (TSC1):TSC1_00711	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.569delG (p.Arg190Profs)	7248	TSC1	not provided	118203401	RCV000042312;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135797300	135797300	NM_000368.4:c.569delG	NP_000359.1:p.Arg190Profs	NC_000009.11:g.135797300delC	Tuberous sclerosis database (TSC1):TSC1_00321	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.524dupT (p.Tyr176Leufs)	7248	TSC1	not provided	118203393	RCV000042303;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135797345	135797345	NM_000368.4:c.524dupT	NP_000359.1:p.Tyr176Leufs	NC_000009.11:g.135797345dupA	Tuberous sclerosis database (TSC1):TSC1_00320	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.489A>T (p.Ser163=)	7248	TSC1	not provided	118203386	RCV000042296;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135798754	135798754	NM_000368.4:c.489A>T	NP_000359.1:p.Ser163=	NC_000009.11:g.135798754T>A	Tuberous sclerosis database (TSC1):TSC1_00318	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.473T>G (p.Phe158Cys)	7248	TSC1	not provided	118203385	RCV000042295;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135798770	135798770	NM_000368.4:c.473T>G	NP_000359.1:p.Phe158Cys	NC_000009.11:g.135798770A>C,NC_000009.11:g.135798770A>G	Tuberous sclerosis database (TSC1):TSC1_00317	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.245A>C (p.Lys82Thr)	7248	TSC1	not provided	118203356	RCV000042207;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135801092	135801092	NM_000368.4:c.245A>C	NP_000359.1:p.Lys82Thr	NC_000009.11:g.135801092T>G	Tuberous sclerosis database (TSC1):TSC1_00316	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.203A>G (p.His68Arg)	7248	TSC1	not provided	118203347	RCV000042128;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135802595	135802595	NM_000368.4:c.203A>G	NP_000359.1:p.His68Arg	NC_000009.11:g.135802595T>C	Tuberous sclerosis database (TSC1):TSC1_00313	C0005684 109800 Malignant tumor of urinary bladder
NM_000368.4(TSC1):c.163C>T (p.Gln55Ter)	7248	TSC1	not provided	118203343	RCV000054965; RCV000042055;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000	9	135802635	135802635	NM_000368.4:c.163C>T	NP_000359.1:p.Gln55Ter	NC_000009.11:g.135802635G>A	Tuberous sclerosis database (TSC1):TSC1_00311	C0005684 109800 Malignant tumor of urinary bladder; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.132dupC (p.Val46Glyfs)	7248	TSC1	not provided	118203337	RCV000042008;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009	9	135802666	135802666	NM_000368.4:c.132dupC	NP_000359.1:p.Val46Glyfs	NC_000009.11:g.135802666_135802667dupGG,NC_000009.11:g.135802666dupG	Tuberous sclerosis database (TSC1):TSC1_00309	C0005684 109800 Malignant tumor of urinary bladder