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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Skin Neoplasms (D012878)
..Starting node ..Familial cylindromatosis (C536611)
Child Nodes:
Sister Nodes:
..Abdominal chemodectomas with cutaneous angiolipomas (C535552)
..Acanthoma (D049309)
..Bazex-Dupre-Christol syndrome (C537663)
..Becker Nevus Syndrome (C565735)
..Blue rubber bleb nevus syndrome (C536240)
..Calcifying Epithelial Odontogenic Tumor (C537961)
..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
..Collagenoma, Familial Cutaneous (C562925)
..Davenport Donlan syndrome (C535988)
..Dermatopathia pigmentosa reticularis (C535374)
..Familial cylindromatosis (C536611)
..Familial multiple trichodiscomas (C536847)
..Fanconi like syndrome (C536855)
..Hereditary leiomyomatosis and renal cell cancer (C535516)
..Histiocytosis, Progressive Mucinous (C564186)
..Melanocytic nevus syndrome, congenital (C536819)
..Melanoma, Cutaneous Malignant (C562393) 7
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 (OMIM:613972)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 (OMIM:615134)
..PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..Papillomatosis, Familial Cutaneous (C566832)
..Phacomatosis pigmentokeratotica (C537893)
..Reactive angioendotheliomatosis (C535293)
..Rombo syndrome (C535870)
..Schwannomatosis (C536641)
..Sclerotylosis (C537526)
..Sebaceous Gland Neoplasms (D012626) 2
..Sweat Gland Neoplasms (D013544)
..Trichoepithelioma, Multiple Familial, 2 (C567418)
..Trichoepitheliomas, Multiple Desmoplastic (C566034)
..Trichofolliculoma (C536553)
..Tufted angioma (C536924)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4565

Name:

Familial cylindromatosis

Definition:

Alternative IDs:

OMIM:132700|OMIM:601606|OMIM:605041

ParentIDs:

MESH:D009386|MESH:D012878

TreeNumbers:

C04.588.805/C536611 |C04.700/C536611 |C16.320.700/C536611 |C17.800.882/C536611

Synonyms:

Slim Mappings:

Cancer|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C536611
MeSH: C536611
OMIM: 132700;
MSeqDR :
Genes: AF8T; CYLD;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0008069	Neoplasm of the skin

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_015247.2(CYLD):c.-414T>C	1540	CYLD	Uncertain significance	534146333	RCV001118689\|RCV001118690\|RCV001118691;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50775962	50775962	16:g.50775962T>C	-
NM_001378743.1(CYLD):c.-229G>C	1540	CYLD	Uncertain significance	886052050	RCV000284855\|RCV000324789\|RCV000379223;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50776010	50776010	16:g.50776010G>C	ClinGen:CA10643732	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.-215C>G	1540	CYLD	Uncertain significance	1445709488	RCV001118692\|RCV001120640\|RCV001120641;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50776024	50776024	16:g.50776024C>G	-
NM_001378743.1(CYLD):c.-124+1988A>G	1540	CYLD	Uncertain significance	886052051	RCV000281466\|RCV000339990\|RCV000407633;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50778740	50778740	16:g.50778740A>G	ClinGen:CA10637862	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.-23A>C	1540	CYLD	Uncertain significance	771486432	RCV000315508\|RCV000336578\|RCV000407638;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50783587	50783587	16:g.50783587A>C	ClinGen:CA8052110	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)	1540	CYLD	Conflicting interpretations of pathogenicity	764097337	RCV000311859\|RCV000370163\|RCV000404707\|RCV002264928\|RCV003469254;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MedGen:C3661900\|MONDO:MONDO:0030872,MedGen:C543688	16	50783668	50783668	16:g.50783668T>G	ClinGen:CA8052119	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.126G>A (p.Pro42=)	1540	CYLD	Benign	202119806	RCV000271988\|RCV000308388\|RCV000366568;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50783735	50783735	NC_000016.9:g.50783735G>A	ClinGen:CA8052131	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.543C>T (p.Tyr181=)	1540	CYLD	Uncertain significance	752294416	RCV000266495\|RCV000321634\|RCV000361140;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50785553	50785553	NC_000016.9:g.50785553C>T	ClinGen:CA8052207	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.561dup (p.Gln188fs)	1540	CYLD	Pathogenic	1596971597	RCV000005576;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50785566	50785567	16:g.50785566_50785567insT	OMIM:605018.0009	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.665C>A (p.Thr222Lys)	1540	CYLD	Uncertain significance	587778225	RCV000120626\|RCV001117149\|RCV001117148\|RCV001117150;	N	MedGen:CN169374\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50785675	50785675	16:g.50785675C>A	ClinGen:CA158243	CN169374 not specified;
NM_001378743.1(CYLD):c.831_834del (p.Asp277fs)	1540	CYLD	Pathogenic	886040868	RCV000257953;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50788250	50788253	NC_000016.9:g.50788253_50788256del	ClinGen:CA10590065	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.911dup (p.Ala305fs)	1540	CYLD	Pathogenic	886040869	RCV000257981;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50788330	50788331	NC_000016.9:g.50788333dup	ClinGen:CA10590066	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.913+5G>T	1540	CYLD	Benign	200435608	RCV001117151\|RCV001117152\|RCV001117153;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50788340	50788340	16:g.50788340G>T	-
NM_001378743.1(CYLD):c.922+9C>A	1540	CYLD	Benign	528253971	RCV000263014\|RCV000318170\|RCV000376328;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50809094	50809094	NC_000016.9:g.50809094C>A	ClinGen:CA8052287	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.987_988dup (p.Gly330fs)	1540	CYLD	Pathogenic	886040871	RCV000257964;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50810153	50810154	NC_000016.9:g.50810154_50810155dup	ClinGen:CA10590068	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)	1540	CYLD	Pathogenic	886040872	RCV000257976\|RCV000760471\|RCV001814137\|RCV003469207;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MedGen:C3661900\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493; MONDO:MONDO:0042977,MedGen:CN296585,OMIM:601606; MONDO:MONDO:0011512,MedGen:C1857941,O	16	50811826	50811826	NC_000016.9:g.50811826C>A	ClinGen:CA10590069	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg)	1540	CYLD	Uncertain significance	200759332	RCV000278230\|RCV000352083\|RCV000372761\|RCV003470312;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0030872,MedGen:C5436881,OMIM:619132	16	50813603	50813603	NC_000016.9:g.50813603C>G	ClinGen:CA8052355	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1172T>C (p.Ile391Thr)	1540	CYLD	Benign	138976689	RCV000293720\|RCV000348615\|RCV000388023;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50813609	50813609	NC_000016.9:g.50813609T>C	ClinGen:CA8052356	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1271C>A (p.Thr424Asn)	1540	CYLD	Uncertain significance	759998669	RCV001120735\|RCV001120734\|RCV001120733;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50813708	50813708	16:g.50813708C>A	-
NM_001378743.1(CYLD):c.1292G>A (p.Gly431Glu)	1540	CYLD	Benign/Likely benign	200494719	RCV000120628\|RCV000309052\|RCV000345237\|RCV000392635\|RCV003315744;	N	MedGen:CN169374\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0042977,MedGen:CN29658	16	50813729	50813729	16:g.50813729G>A	ClinGen:CA158249	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1294A>C (p.Ser432Arg)	1540	CYLD	Uncertain significance	1248488179	RCV001115807\|RCV001120736\|RCV001120737;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50813731	50813731	16:g.50813731A>C	-
NM_001378743.1(CYLD):c.1327C>T (p.Gln443Ter)	1540	CYLD	Pathogenic	764952788	RCV000257934;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50813764	50813764	NC_000016.9:g.50813764C>T	ClinGen:CA10590070	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1363C>T (p.Gln455Ter)	1540	CYLD	Pathogenic	886040873	RCV000257960;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50813800	50813800	NC_000016.9:g.50813800C>T	ClinGen:CA10590071	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1473C>T (p.Ile491=)	1540	CYLD	Benign/Likely benign	75757530	RCV000304442\|RCV000361447\|RCV000390589\|RCV000861068\|RCV003316480;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MedGen:C3661900\|MONDO:MONDO:0042977,MedGen:CN29658	16	50813910	50813910	NC_000016.9:g.50813910C>T	ClinGen:CA8052401	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1503C>T (p.Leu501=)	1540	CYLD	Uncertain significance	752471076	RCV000264382\|RCV000303206\|RCV000355595;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50813940	50813940	NC_000016.9:g.50813940C>T	ClinGen:CA8052404	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1658_1661del (p.Asn553fs)	1540	CYLD	Pathogenic	886040876	RCV000257967;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50815294	50815297	NC_000016.9:g.50815296_50815299del	ClinGen:CA10590074	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1684G>C (p.Ala562Pro)	1540	CYLD	Uncertain significance	886040877	RCV000257995;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50815322	50815322	NC_000016.9:g.50815322G>C	ClinGen:CA10590075	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1684+3A>C	1540	CYLD	Uncertain significance	886040878	RCV000257948;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50815325	50815325	NC_000016.9:g.50815325A>C	ClinGen:CA10590076	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1771A>T (p.Lys591Ter)	1540	CYLD	Pathogenic	886040879	RCV000257974;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50816322	50816322	NC_000016.9:g.50816322A>T	ClinGen:CA10590077	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1778G>A (p.Gly593Asp)	1540	CYLD	Uncertain significance	886040880	RCV000258002;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50816329	50816329	NC_000016.9:g.50816329G>A	ClinGen:CA10590078	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.1950-1_1952del	1540	CYLD	Pathogenic	2151015263	RCV000005578;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50820763	50820766	50820762	OMIM:605018.0011
NM_001378743.1(CYLD):c.1950-2_1953del	1540	CYLD	Pathogenic	886040882	RCV000257975;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50820763	50820768	NC_000016.9:g.50820764_50820769del	ClinGen:CA10590080	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2041G>C (p.Asp681His)	1540	CYLD	Uncertain significance	886040883	RCV000257999;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50820857	50820857	NC_000016.9:g.50820857G>C	ClinGen:CA10590081	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2109-10G>A	1540	CYLD	Benign	11865799	RCV000263052\|RCV000316033\|RCV000372945\|RCV001538964\|RCV003316481;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MedGen:C3661900\|MONDO:MONDO:0042977,MedGen:CN29658	16	50825459	50825459	NC_000016.9:g.50825459G>A	ClinGen:CA8052560	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2145T>C (p.Tyr715=)	1540	CYLD	Uncertain significance	200905032	RCV000275842\|RCV000333288\|RCV000385516;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50825505	50825505	NC_000016.9:g.50825505T>C	ClinGen:CA8052561	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2241+5G>A	1540	CYLD	Pathogenic	1971445448	RCV001257399;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50825606	50825606	16:g.50825606G>A	-
NM_001378743.1(CYLD):c.2242-2A>G	1540	CYLD	Pathogenic	886040886	RCV000258001;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50826506	50826506	NC_000016.9:g.50826506A>G	ClinGen:CA10590084	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2252del (p.Cys751fs)	1540	CYLD	Pathogenic	1597088499	RCV000005566\|RCV000005567;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50826518	50826518	16:g.50826518_50826518del	OMIM:605018.0003	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter)	1540	CYLD	Pathogenic	121908388	RCV000005565\|RCV000120624\|RCV002281697;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MedGen:CN169374\|MedGen:CN517202	16	50826538	50826538	16:g.50826538C>T	ClinGen:CA158237,OMIM:605018.0002	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs)	1540	CYLD	Pathogenic	886040887	RCV000257950;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50826555	50826559	NC_000016.9:g.50826557_50826561del	ClinGen:CA10590085	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)	1540	CYLD	Pathogenic	886040888	RCV000257977\|RCV002466483\|RCV003469208;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0030872,MedGen:C5436881,OMIM:619132	16	50826565	50826565	NC_000016.9:g.50826565A>T	ClinGen:CA10590086	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2319G>A (p.Leu773=)	1540	CYLD	Benign	199912760	RCV000293316\|RCV000346160\|RCV000384372;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50826585	50826585	NC_000016.9:g.50826585G>A	ClinGen:CA8052590	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2350+1G>T	1540	CYLD	Pathogenic	886040890	RCV000257951;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50826617	50826617	NC_000016.9:g.50826617G>T	ClinGen:CA10590088	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2390_2391del (p.Met796_Tyr797insTer)	1540	CYLD	Pathogenic	886040891	RCV000257985;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50827495	50827496	NC_000016.9:g.50827496_50827497del	ClinGen:CA10590089	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer)	1540	CYLD	Pathogenic	886040892	RCV000257939;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50827512	50827513	NC_000016.9:g.50827512_50827513del	ClinGen:CA10590090	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2412C>T (p.Asp804=)	1540	CYLD	Benign	2066852	RCV000287584\|RCV000344948\|RCV000407073\|RCV001636902\|RCV003316482;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MedGen:C3661900\|MONDO:MONDO:0042977,MedGen:CN29658	16	50827518	50827518	NC_000016.9:g.50827518C>T	ClinGen:CA8052618	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile)	1540	CYLD	Uncertain significance	775394735	RCV000302448\|RCV000341045\|RCV000405511\|RCV003470313;	N	MONDO:MONDO:0012800,MedGen:C2677505,OMIM:612099, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0030872,MedGen:C5436881,OMIM:619132	16	50827571	50827571	NC_000016.9:g.50827571C>T	ClinGen:CA8052626	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2469+1G>A	1540	CYLD	Pathogenic	1597091470	RCV000005564;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50827576	50827576	16:g.50827576G>A	OMIM:605018.0001	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2469+10C>T	1540	CYLD	Benign	374473837	RCV000906426\|RCV001118876\|RCV001118874\|RCV001118875;	N	MedGen:CN517202\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50827585	50827585	16:g.50827585C>T	-
NM_001378743.1(CYLD):c.2469+26A>G	1540	CYLD	Benign	2302759	RCV001649019\|RCV001658373\|RCV001658371\|RCV001658372;	N	MedGen:C3661900\|MONDO:MONDO:0042977,MedGen:CN296585,OMIM:601606\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50827601	50827601	50827601	-
NM_001378743.1(CYLD):c.2515del (p.Ser839fs)	1540	CYLD	Pathogenic	886040893	RCV000257968;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50828168	50828168	NC_000016.9:g.50828168del	ClinGen:CA10590091	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2569C>T (p.Gln857Ter)	1540	CYLD	Pathogenic	886040894	RCV000257992;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50828222	50828222	NC_000016.9:g.50828222C>T	ClinGen:CA10590092	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.2589T>C (p.Ala863=)	1540	CYLD	Uncertain significance	201868355	RCV001118877\|RCV001118878\|RCV001120836;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50828242	50828242	16:g.50828242T>C	-
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)	1540	CYLD	Pathogenic	121908390	RCV000005573\|RCV000005575\|RCV000005574\|RCV002496269;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0042977,MedGen:CN296585,OMIM:601606; MO	16	50830354	50830354	16:g.50830354C>T	ClinGen:CA214928,OMIM:605018.0008	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*29T>C	1540	CYLD	Uncertain significance	1972065736	RCV001120837\|RCV001120838\|RCV001120839;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50830448	50830448	16:g.50830448T>C	-
NM_001378743.1(CYLD):c.*47G>A	1540	CYLD	Benign	116979331	RCV000301407\|RCV000353954\|RCV000405239;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50830466	50830466	NC_000016.9:g.50830466G>A	ClinGen:CA8052740	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*59T>C	1540	CYLD	Uncertain significance	950448066	RCV001115901\|RCV001115900\|RCV001120840;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50830478	50830478	16:g.50830478T>C	-
NM_001378743.1(CYLD):c.*139G>A	1540	CYLD	Benign	148107725	RCV001115903\|RCV001115902\|RCV001115904;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50830558	50830558	16:g.50830558G>A	-
NM_001378743.1(CYLD):c.*206A>C	1540	CYLD	Uncertain significance	1406870242	RCV001115905\|RCV001115906\|RCV001115907;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50830625	50830625	16:g.50830625A>C	-
NM_001378743.1(CYLD):c.*280A>G	1540	CYLD	Uncertain significance	1972088853	RCV001117355\|RCV001117357\|RCV001117356;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50830699	50830699	16:g.50830699A>G	-
NM_001378743.1(CYLD):c.*382T>C	1540	CYLD	Benign	142580891	RCV000274495\|RCV000313834\|RCV000371400;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50830801	50830801	NC_000016.9:g.50830801T>C	ClinGen:CA10648500	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*403T>C	1540	CYLD	Uncertain significance	886052052	RCV000273126\|RCV000331803\|RCV000365459;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50830822	50830822	NC_000016.9:g.50830822T>C	ClinGen:CA10643734	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*468A>C	1540	CYLD	Uncertain significance	886052053	RCV000286124\|RCV000325794\|RCV000382834;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50830887	50830887	NC_000016.9:g.50830887A>C	ClinGen:CA10647629	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*698T>G	1540	CYLD	Benign	541975303	RCV000283955\|RCV000323902\|RCV000376245;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50831117	50831117	NC_000016.9:g.50831117T>G	ClinGen:CA10643737	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*779G>A	1540	CYLD	Conflicting interpretations of pathogenicity	190787930	RCV000278284\|RCV000336608\|RCV000407966\|RCV003418001;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MedGen:C3661900	16	50831198	50831198	NC_000016.9:g.50831198G>A	ClinGen:CA10648504	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*831C>T	1540	CYLD	Benign	144877731	RCV000314741\|RCV000335580\|RCV000407961;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50831250	50831250	NC_000016.9:g.50831250C>T	ClinGen:CA10647631	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*837A>G	1540	CYLD	Benign	3743781	RCV000308976\|RCV000367049\|RCV000403655;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50831256	50831256	NC_000016.9:g.50831256A>G	ClinGen:CA10637874	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*841G>A	1540	CYLD	Benign	117537927	RCV000269336\|RCV000326702\|RCV000366033;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50831260	50831260	NC_000016.9:g.50831260G>A	ClinGen:CA10643739	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1033T>A	1540	CYLD	Uncertain significance	1972150827	RCV001116016\|RCV001116017\|RCV001116018;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50831452	50831452	16:g.50831452T>A	-
NM_001378743.1(CYLD):c.*1034C>A	1540	CYLD	Uncertain significance	1972151007	RCV001116019\|RCV001116020\|RCV001117465;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50831453	50831453	16:g.50831453C>A	-
NM_001378743.1(CYLD):c.*1102G>A	1540	CYLD	Uncertain significance	141088048	RCV000264465\|RCV000321999\|RCV000360395;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50831521	50831521	NC_000016.9:g.50831521G>A	ClinGen:CA10637875	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1191C>G	1540	CYLD	Uncertain significance	146935881	RCV001117466\|RCV001117467\|RCV001117468;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50831610	50831610	16:g.50831610C>G	-
NM_001378743.1(CYLD):c.*1191C>T	1540	CYLD	Uncertain significance	146935881	RCV001117469\|RCV001119070\|RCV001119071;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50831610	50831610	16:g.50831610C>T	-
NM_001378743.1(CYLD):c.*1245T>C	1540	CYLD	Uncertain significance	192470603	RCV000282082\|RCV000315963\|RCV000374185;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50831664	50831664	NC_000016.9:g.50831664T>C	ClinGen:CA10637877	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1308A>G	1540	CYLD	Uncertain significance	886052054	RCV000294871\|RCV000352119\|RCV000372868;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50831727	50831727	NC_000016.9:g.50831727A>G	ClinGen:CA10637880	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1341T>G	1540	CYLD	Benign	140767609	RCV000293379\|RCV000345944\|RCV000392792;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50831760	50831760	NC_000016.9:g.50831760T>G	ClinGen:CA10647633	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1575G>A	1540	CYLD	Benign/Likely benign	184344245	RCV000306461\|RCV000345013\|RCV000392804\|RCV003409500;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MedGen:C3661900	16	50831994	50831994	NC_000016.9:g.50831994G>A	ClinGen:CA10637881	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1587dup	1540	CYLD	Uncertain significance	886052055	RCV000305299\|RCV000358415\|RCV000390737;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0012800,MedGen:C2677505,OMIM:612099, Orphanet:79493	16	50832002	50832003	NC_000016.9:g.50832006dup	ClinGen:CA10647634	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1590T>C	1540	CYLD	Benign/Likely benign	528844666	RCV000266087\|RCV000300149\|RCV000357419\|RCV003418002;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MedGen:C3661900	16	50832009	50832009	16:g.50832009T>C	ClinGen:CA10647637	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1651G>A	1540	CYLD	Uncertain significance	1206094648	RCV001116123\|RCV001116124\|RCV001116122;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50832070	50832070	16:g.50832070G>A	-
NM_001378743.1(CYLD):c.*1667G>T	1540	CYLD	Uncertain significance	750022206	RCV000259927\|RCV000317446\|RCV000388252;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50832086	50832086	16:g.50832086G>T	ClinGen:CA10637883	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1727T>C	1540	CYLD	Uncertain significance	886052056	RCV000277496\|RCV000330693\|RCV000387600;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50832146	50832146	16:g.50832146T>C	ClinGen:CA10643740	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1746C>T	1540	CYLD	Uncertain significance	886052057	RCV000290921\|RCV000348169\|RCV000381603;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50832165	50832165	16:g.50832165C>T	ClinGen:CA10637886	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1810A>T	1540	CYLD	Uncertain significance	886052058	RCV000289522\|RCV000342188\|RCV000407296;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50832229	50832229	16:g.50832229A>T	ClinGen:CA10637887	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1831G>A	1540	CYLD	Benign	181246559	RCV000302842\|RCV000336682\|RCV000407207;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50832250	50832250	16:g.50832250G>A	ClinGen:CA10648507	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*1983T>C	1540	CYLD	Uncertain significance	867027657	RCV000275843\|RCV000296875\|RCV000354286;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50832402	50832402	16:g.50832402T>C	ClinGen:CA10648509	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2026G>A	1540	CYLD	Uncertain significance	1972229289	RCV001119159\|RCV001121149\|RCV001119160;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50832445	50832445	16:g.50832445G>A	-
NM_001378743.1(CYLD):c.2121_2122del	1540	CYLD	Uncertain significance	74757288	RCV000272919\|RCV000327606\|RCV000384529;	N	MONDO:MONDO:0012800,MedGen:C2677505,OMIM:612099, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50832526	50832527	16:g.50832526_50832527del	ClinGen:CA10648511	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2122del	1540	CYLD	Benign	74757288	RCV000274799\|RCV000314663\|RCV000366976;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0012800,MedGen:C2677505,OMIM:612099, Orphanet:79493	16	50832526	50832526	16:g.50832526_50832526del	ClinGen:CA10648512	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2113A>G	1540	CYLD	Uncertain significance	1972238592	RCV001121151\|RCV001121150\|RCV001121152;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50832532	50832532	16:g.50832532A>G	-
NM_001378743.1(CYLD):c.*2147T>G	1540	CYLD	Uncertain significance	1323064285	RCV001121153\|RCV001121154\|RCV001121155;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50832566	50832566	16:g.50832566T>G	-
NM_001378743.1(CYLD):c.*2150A>G	1540	CYLD	Benign	563954578	RCV000283319\|RCV000327998\|RCV000377886;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50832569	50832569	16:g.50832569A>G	ClinGen:CA10647639	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2236C>T	1540	CYLD	Benign	57638820	RCV000279666\|RCV000343028\|RCV000378870;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50832655	50832655	16:g.50832655C>T	ClinGen:CA10648513	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2305A>T	1540	CYLD	Uncertain significance	559634329	RCV000280681\|RCV000334838\|RCV000408114;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50832724	50832724	16:g.50832724A>T	ClinGen:CA10643741	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2335T>C	1540	CYLD	Benign	9646285	RCV000314862\|RCV000349747\|RCV000408122;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50832754	50832754	16:g.50832754T>C	ClinGen:CA10648516	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2369G>A	1540	CYLD	Benign	16948829	RCV000306239\|RCV000369208\|RCV000405713;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50832788	50832788	16:g.50832788G>A	ClinGen:CA10648518	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2424C>T	1540	CYLD	Uncertain significance	1972268579	RCV001117680\|RCV001119248\|RCV001117681;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50832843	50832843	16:g.50832843C>T	-
NM_001378743.1(CYLD):c.*2438G>A	1540	CYLD	Uncertain significance	886052061	RCV000271204\|RCV000321559\|RCV000365623;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50832857	50832857	16:g.50832857G>A	ClinGen:CA10643742	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2521G>A	1540	CYLD	Uncertain significance	937833973	RCV001119249\|RCV001119250\|RCV001119251;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50832940	50832940	16:g.50832940G>A	-
NM_001378743.1(CYLD):c.*2556A>G	1540	CYLD	Uncertain significance	747682326	RCV000267743\|RCV000317670\|RCV000357784;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50832975	50832975	16:g.50832975A>G	ClinGen:CA10637889	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2615A>G	1540	CYLD	Benign	181056407	RCV000282392\|RCV000318688\|RCV000372355;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50833034	50833034	16:g.50833034A>G	ClinGen:CA10643744	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2646G>A	1540	CYLD	Benign	563329143	RCV000292862\|RCV000352325\|RCV000387151;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50833065	50833065	NC_000016.9:g.50833065G>A	ClinGen:CA10647640	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2710C>T	1540	CYLD	Benign	141928186	RCV000289662\|RCV000344606\|RCV000402393;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50833129	50833129	NC_000016.9:g.50833129C>T	ClinGen:CA10648520	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2848A>G	1540	CYLD	Uncertain significance	1972303099	RCV001116337\|RCV001116335\|RCV001116336;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50833267	50833267	16:g.50833267A>G	-
NM_001378743.1(CYLD):c.*2856T>C	1540	CYLD	Uncertain significance	778856255	RCV000309712\|RCV000359531\|RCV000392201;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50833275	50833275	NC_000016.9:g.50833275T>C	ClinGen:CA10648522	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*2975C>T	1540	CYLD	Uncertain significance	886052062	RCV000306131\|RCV000360845\|RCV000392177;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50833394	50833394	NC_000016.9:g.50833394C>T	ClinGen:CA10637901	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3000C>G	1540	CYLD	Uncertain significance	886052063	RCV000260461\|RCV000315722\|RCV000356363;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50833419	50833419	NC_000016.9:g.50833419C>G	ClinGen:CA10647645	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3070A>G	1540	CYLD	Benign	144667145	RCV000261645\|RCV000330971\|RCV000385450;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50833489	50833489	NC_000016.9:g.50833489A>G	ClinGen:CA10647646	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3119del	1540	CYLD	Conflicting interpretations of pathogenicity	149875014	RCV000295900\|RCV000332200\|RCV000382145\|RCV003418003;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0012800,MedGen:C2677505,OMIM:612099, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MedGen:C3661900	16	50833531	50833531	NC_000016.9:g.50833538del	ClinGen:CA10648524	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3148T>C	1540	CYLD	Conflicting interpretations of pathogenicity	555603514	RCV000288251\|RCV000347858\|RCV000383728\|RCV003422268;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MedGen:C3661900	16	50833567	50833567	NC_000016.9:g.50833567T>C	ClinGen:CA10648525	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3151T>G	1540	CYLD	Uncertain significance	759858517	RCV001119348\|RCV001119349\|RCV001119350;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50833570	50833570	16:g.50833570T>G	-
NM_001378743.1(CYLD):c.*3229C>T	1540	CYLD	Uncertain significance	752862278	RCV000284579\|RCV000339625\|RCV000407321;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50833648	50833648	NC_000016.9:g.50833648C>T	ClinGen:CA10647650	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3305A>G	1540	CYLD	Uncertain significance	886052065	RCV000304570\|RCV000334752\|RCV000407329;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50833724	50833724	NC_000016.9:g.50833724A>G	ClinGen:CA10637906	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3384G>A	1540	CYLD	Uncertain significance	886052066	RCV000273910\|RCV000299718\|RCV000368480;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50833803	50833803	NC_000016.9:g.50833803G>A	ClinGen:CA10647652	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3462A>G	1540	CYLD	Uncertain significance	1972340927	RCV001116437\|RCV001116436\|RCV001116438;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50833881	50833881	16:g.50833881A>G	-
NM_001378743.1(CYLD):c.*3469T>C	1540	CYLD	Benign/Likely benign	111951225	RCV000270324\|RCV000314937\|RCV000369594\|RCV003418004;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MedGen:C3661900	16	50833888	50833888	NC_000016.9:g.50833888T>C	ClinGen:CA10637915	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3589C>T	1540	CYLD	Uncertain significance	1972351190	RCV001116439\|RCV001117895\|RCV001117896;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50834008	50834008	16:g.50834008C>T	-
NM_001378743.1(CYLD):c.*3614C>A	1540	CYLD	Benign	372370285	RCV000271120\|RCV000324998\|RCV000384272;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834033	50834033	NC_000016.9:g.50834033C>A	ClinGen:CA10647653	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3679T>C	1540	CYLD	Benign	141888517	RCV000286454\|RCV000321514\|RCV000376254;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50834098	50834098	NC_000016.9:g.50834098T>C	ClinGen:CA10648526	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3722T>G	1540	CYLD	Uncertain significance	886052067	RCV000278886\|RCV000341480\|RCV000372826;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50834141	50834141	NC_000016.9:g.50834141T>G	ClinGen:CA10643746	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3731C>T	1540	CYLD	Uncertain significance	551109634	RCV000312871\|RCV000338573\|RCV000398890;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50834150	50834150	NC_000016.9:g.50834150C>T	ClinGen:CA10637916	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3736G>A	1540	CYLD	Benign/Likely benign	567662515	RCV000313954\|RCV000348894\|RCV000408143\|RCV003418005;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MedGen:C3661900	16	50834155	50834155	NC_000016.9:g.50834155G>A	ClinGen:CA10647655	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3739C>G	1540	CYLD	Benign	16948836	RCV000269695\|RCV000310793\|RCV000363916;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50834158	50834158	NC_000016.9:g.50834158C>G	ClinGen:CA10637918	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*3851T>C	1540	CYLD	Uncertain significance	930910588	RCV001121442\|RCV001121444\|RCV001121443;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834270	50834270	16:g.50834270T>C	-
NM_001378743.1(CYLD):c.*3865C>T	1540	CYLD	Uncertain significance	1281354923	RCV001116553\|RCV001116552\|RCV001121445;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834284	50834284	16:g.50834284C>T	-
NM_001378743.1(CYLD):c.*4388C>T	1540	CYLD	Uncertain significance	781004605	RCV000266050\|RCV000321376\|RCV000365480;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834807	50834807	NC_000016.9:g.50834807C>T	ClinGen:CA10647660	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4470C>A	1540	CYLD	Uncertain significance	755710819	RCV000267341\|RCV000317839\|RCV000380631;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834889	50834889	NC_000016.9:g.50834889C>A	ClinGen:CA10647663	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4485G>C	1540	CYLD	Uncertain significance	886052068	RCV000280411\|RCV000330886\|RCV000374964;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50834904	50834904	NC_000016.9:g.50834904G>C	ClinGen:CA10648528	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4494G>A	1540	CYLD	Uncertain significance	546313281	RCV000295804\|RCV000350765\|RCV000385373;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834913	50834913	NC_000016.9:g.50834913G>A	ClinGen:CA10637919	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4514C>G	1540	CYLD	Uncertain significance	1303376683	RCV001118002\|RCV001119531\|RCV001118001;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834933	50834933	16:g.50834933C>G	-
NM_001378743.1(CYLD):c.*4530G>T	1540	CYLD	Uncertain significance	748716852	RCV001119532\|RCV001119533\|RCV001119534;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834949	50834949	16:g.50834949G>T	-
NM_001378743.1(CYLD):c.*4561G>A	1540	CYLD	Benign	17314948	RCV000289482\|RCV000346744\|RCV000401157;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50834980	50834980	NC_000016.9:g.50834980G>A	ClinGen:CA10643747	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4567C>T	1540	CYLD	Benign	113748745	RCV000302298\|RCV000359417\|RCV000392298;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50834986	50834986	NC_000016.9:g.50834986C>T	ClinGen:CA10637926	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4691A>G	1540	CYLD	Uncertain significance	886052069	RCV000305654\|RCV000353593\|RCV000392285;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50835110	50835110	NC_000016.9:g.50835110A>G	ClinGen:CA10643750	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4702C>T	1540	CYLD	Uncertain significance	886052070	RCV000261089\|RCV000318356\|RCV000356844;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50835121	50835121	NC_000016.9:g.50835121C>T	ClinGen:CA10637927	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4841G>A	1540	CYLD	Uncertain significance	886052071	RCV000273687\|RCV000331085\|RCV000388179;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50835260	50835260	NC_000016.9:g.50835260G>A	ClinGen:CA10637933	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4885A>T	1540	CYLD	Uncertain significance	184571054	RCV000296230\|RCV000325361\|RCV000382325;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493	16	50835304	50835304	NC_000016.9:g.50835304A>T	ClinGen:CA10648529	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.4888_4889del	1540	CYLD	Benign	143814807	RCV000289841\|RCV000347085\|RCV000390118;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0012800,MedGen:C2677505,OMIM:612099, Orphanet:79493	16	50835307	50835308	16:g.50835307_50835308del	ClinGen:CA10643751	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*4947G>A	1540	CYLD	Uncertain significance	567438576	RCV000284026\|RCV000341404\|RCV000393581;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50835366	50835366	16:g.50835366G>A	ClinGen:CA10647665	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*5060G>T	1540	CYLD	Uncertain significance	888172609	RCV001118095\|RCV001118096\|RCV001118097;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50835479	50835479	16:g.50835479G>T	-
NM_001378743.1(CYLD):c.*5086A>G	1540	CYLD	Benign	572929759	RCV000297191\|RCV000354360\|RCV000393578;	N	MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867	16	50835505	50835505	16:g.50835505A>G	ClinGen:CA10647666	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*5272C>T	1540	CYLD	Benign	140875917	RCV000276489\|RCV000311754\|RCV000368677;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50835691	50835691	16:g.50835691C>T	ClinGen:CA10647670	C1851526 132700 Cylindromatosis, familial;
NM_001378743.1(CYLD):c.*5327C>A	1540	CYLD	Uncertain significance	1972483152	RCV001119638\|RCV001119636\|RCV001119637;	N	MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50835746	50835746	16:g.50835746C>A	-
NM_001378743.1(CYLD):c.*5384A>G	1540	CYLD	Uncertain significance	886052072	RCV000270517\|RCV000315056\|RCV000362689;	N	MONDO:MONDO:0011114,MedGen:C1275122, Orphanet:79493, Orphanet:867\|MONDO:MONDO:0011512,MedGen:C1857941,OMIM:605041, Orphanet:79493\|MONDO:MONDO:0007565,MedGen:C1851526,OMIM:132700, Orphanet:211, Orphanet:79493	16	50835803	50835803	16:g.50835803A>G	ClinGen:CA10637936	C1851526 132700 Cylindromatosis, familial;

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