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Genetic Diseases, X-Linked (D040181)
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Skin Abnormalities (D012868)
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Skin Diseases, Genetic (D012873)
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Dyskeratosis Congenita (D019871)

       Child Nodes:
........expandDyskeratosis Congenita, Autosomal Dominant (C565079)
........expandDyskeratosis Congenita, Autosomal Recessive (C565611)
........expandHoyeraal Hreidarsson syndrome (C536068)



 Sister Nodes: 
..expandActinic Prurigo (C566780)
..expandAlbinism (D000417) Child30
..expandAmyloidosis IX (C562643)
..expandAmyloidosis, Cutaneous Bullous (C562644)
..expandAmyloidosis, Primary Cutaneous (C562642)
..expandAnnular Erythema (C562461)
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..expandAtrophia Maculosa Varioliformis Cutis, Familial (C563349)
..expandBasaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..expandBuschke-Ollendorff syndrome (C537415)
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..expandDarier Disease (D007644) Child7
..expandDermatitis, Atopic (D003876) Child9
..expandDowling-Degos Disease (C562924)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..expandDyskeratosis Congenita (D019871) Child3
..expandEctodermal Dysplasia (D004476) Child144  LSDB C:1
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandErythrokeratodermia Variabilis (D056266) Child3
..expandErythrokeratodermia with ataxia (C535738)
..expandExfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..expandFingerprints, Absence of (C565010)
..expandFollicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..expandGerodermia osteodysplastica (C537799)
..expandHereditary Autoinflammatory Diseases (D056660) Child10
..expandHistiocytic Dermatoarthritis (C564183)
..expandHyalinosis, Systemic (D057770)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis, X-Linked (D016114) Child2
..expandIncontinentia Pigmenti (D007184) Child2
..expandJuvenile Spring Eruption of Ears (C566781)
..expandKeratoderma, Palmoplantar (D007645) Child45
..expandKeratolytic winter erythema (C536155)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandLeukokeratosis, Hereditary Mucosal (D053529)
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandLipoid Proteinosis of Urbach and Wiethe (D008065)
..expandMonilethrix (D056734) Child1
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..expandNetherton Syndrome (D056770)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOculotrichodysplasia (C564934)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOrofaciodigital syndrome 9 (C557818)
..expandOsseous Heteroplasia, Progressive (C562735)
..expandOsteopoikilosis, Isolated (C563484)
..expandParana Hard Skin Syndrome (C564905)
..expandPeeling Skin Syndrome (C564818)
..expandPemphigus, Benign Familial (D016506)
..expandPerifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPlasminogen Deficiency, Type I (C566897)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPorokeratosis (D017499) Child7
..expandPorphyria, Erythropoietic (D017092)
..expandPorphyrias, Hepatic (D017094) Child14
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSjogren-Larsson Syndrome (D016111) Child1
..expandSkin Fragility-Woolly Hair Syndrome (C564359)
..expandStiff Skin Syndrome (C566112)
..expandStorm Syndrome (C566109)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandVitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..expandVohwinkel Syndrome, Variant Form (C565826)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3881
Name:Dyskeratosis Congenita
Definition:A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
Alternative IDs:DO:DOID:2729|OMIM:305000
ParentIDs:MESH:D012868|MESH:D012873|MESH:D040181
TreeNumbers:C16.131.831.150 |C16.320.322.108 |C16.320.850.235 |C17.800.804.150 |C17.800.827.235
Synonyms:CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA, INCLUDED |Congenita, X-Linked Dyskeratosis |DKCX |Dyskeratosis Congenita, X Linked |Dyskeratosis Congenita, X-Linked |GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, INCLUDED |HHS,
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: D019871
MeSH: D019871
OMIM: 305000;
MSeqDR LSDB:  
Genes: CHRNA2; DKC1;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0004808Acute myeloid leukemia
3 HP:0001596Alopecia
4 HP:0005212Anal mucosal leukoplakia
5 HP:0001903Anemia
6 HP:0001251AtaxiaHP:0040283
7 HP:0000498Blepharitis
8 HP:0005528Bone marrow hypocellularity
9 HP:0000670Carious teeth
10 HP:0000518Cataract
NAMDC:  Cataracts
11 HP:0001321Cerebellar hypoplasiaHP:0040283
12 HP:0001394Cirrhosis
NAMDC:  Cirrhosis
13 HP:0000509Conjunctivitis
14 HP:0000028Cryptorchidism
15 HP:0008734Decreased testicular size
16 HP:0004334Dermal atrophy
17 HP:0009926Epiphora
18 HP:0002043Esophageal stricture
19 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040284
20 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040284
21 HP:0012189Hodgkin lymphoma
22 HP:0000085Horseshoe kidney
23 HP:0000975Hyperhidrosis
24 HP:0000953Hyperpigmentation of the skin
25 HP:0000047Hypospadias
26 HP:0002721Immunodeficiency
27 HP:0001249Intellectual disability
28 HP:0001511Intrauterine growth retardation
29 HP:0001882Leukopenia
30 HP:0000252Microcephaly
31 HP:0002863Myelodysplasia
32 HP:0008404Nail dystrophy
33 HP:0000648Optic atrophy
34 HP:0002745Oral leukoplakia
35 HP:0000939Osteoporosis
36 HP:0001876Pancytopenia
37 HP:0001741Phimosis
38 HP:0002216Premature graying of hair
39 HP:0006480Premature loss of teeth
40 HP:0002165Pterygium of nails
41 HP:0002206Pulmonary fibrosis
42 HP:0002091Restrictive ventilatory defect
43 HP:0007427Reticulated skin pigmentation
44 HP:0001807Ridged nail
45 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
46 HP:0000653Sparse eyelashes
47 HP:0001809Split nail
48 HP:0002860Squamous cell carcinoma
49 HP:0000486Strabismus
50 HP:0001873Thrombocytopenia
51 HP:0008661Urethral stenosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001363.4(DKC1):c.-142C>G1736DKC1Conflicting interpretations of pathogenicityrs199422241RCV000032195|RCV000503491|RCV000434441|RCV001442049; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775X153991099153991099CGX:g.153991099C>GClinGen:CA343231,OMIM:300126.0008C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)1736DKC1Pathogenicrs121912303RCV000032202; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153991245153991245CTX:g.153991245C>TClinGen:CA343245,UniProtKB:O60832#VAR_010076,UniProtKB/Swiss-Prot:VAR_010076C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.16+592C>G1736DKC1Pathogenicrs1603429348RCV000012347; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153991848153991848CGX:g.153991848C>GOMIM:300126.0009C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu)1736DKC1Pathogenicrs199422242RCV000032200; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993186153993186CTX:g.153993186C>TClinGen:CA343242C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)1736DKC1Pathogenicrs137854491RCV000012352; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993725153993725CAX:g.153993725C>AClinGen:CA341118,OMIM:300126.0013C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu)1736DKC1Pathogenicrs137854491RCV000032205; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993725153993725CGX:g.153993725C>GClinGen:CA343253C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)1736DKC1Pathogenicrs121912293RCV000012338; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993740153993740TGX:g.153993740T>GClinGen:CA341107,UniProtKB:O60832#VAR_006811,UniProtKB/Swiss-Prot:VAR_006811,OMIM:300126.0001C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.109_111del (p.Leu37del)1736DKC1Likely pathogenicrs137854489RCV000012339|RCV000634495; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775X153993741153993743TTTCTX:g.153993741_153993743delClinGen:CA341109,OMIM:300126.0002C0265965 Dyskeratosis congenita;
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)1736DKC1Pathogenicrs28936072RCV000012351|RCV000055631; NMONDO:MONDO:0018045,MedGen:C1846142, Orphanet:3322|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993747153993747TCX:g.153993747T>CClinGen:CA264769,UniProtKB:O60832#VAR_015674,UniProtKB/Swiss-Prot:VAR_015674,OMIM:300126.0012C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)1736DKC1Pathogenicrs121912296RCV000032188; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993749153993749AGX:g.153993749A>GClinGen:CA343214,UniProtKB:O60832#VAR_010077,UniProtKB/Swiss-Prot:VAR_010077C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)1736DKC1Pathogenicrs121912292RCV000012340; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993753153993753CGX:g.153993753C>GClinGen:CA341112,UniProtKB:O60832#VAR_006813,UniProtKB/Swiss-Prot:VAR_006813,OMIM:300126.0003C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)1736DKC1Pathogenicrs121912302RCV000032191; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993755153993755GAX:g.153993755G>AClinGen:CA343221,UniProtKB:O60832#VAR_010078,UniProtKB/Swiss-Prot:VAR_010078C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu)1736DKC1Pathogenicrs199422243RCV000032194; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993761153993761AGX:g.153993761A>GClinGen:CA343228C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)1736DKC1Likely pathogenicrs2071733846RCV001195949; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993767153993767GAX:g.153993767G>A-
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)1736DKC1Pathogenicrs121912304RCV000012349|RCV000254868|RCV000816060; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775X153993780153993780CTX:g.153993780C>TClinGen:CA156187,UniProtKB:O60832#VAR_015675,UniProtKB/Swiss-Prot:VAR_015675,OMIM:300126.0010
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser)1736DKC1not providedrs121912287RCV000059286; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153993800153993801CTTCNC_000023.10:g.153993800_153993801delinsTCClinGen:CA266024,UniProtKB/Swiss-Prot:VAR_063821C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)1736DKC1Pathogenicrs121912301RCV000032196; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153994204153994204GCX:g.153994204G>CClinGen:CA343232,UniProtKB:O60832#VAR_010079,UniProtKB/Swiss-Prot:VAR_010079C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)1736DKC1Pathogenicrs121912297RCV000032197|RCV001551970; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN517202X153994206153994206AGX:g.153994206A>GClinGen:CA343234,UniProtKB:O60832#VAR_010080,UniProtKB/Swiss-Prot:VAR_010080C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile)1736DKC1Pathogenicrs199422244RCV000032198; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153994210153994210CTX:g.153994210C>TClinGen:CA343236C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.203A>G (p.His68Arg)1736DKC1Pathogenicrs1557264102RCV000677353; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153994213153994213AGX:g.153994213A>G-C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.204C>A (p.His68Gln)1736DKC1Pathogenicrs199422245RCV000032199; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153994214153994214CAX:g.153994214C>AClinGen:CA343239C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)1736DKC1Pathogenicrs121912294RCV000012341; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153994224153994225CTTANC_000023.10:g.153994224_153994225delinsTAClinGen:CA255932,UniProtKB/Swiss-Prot:VAR_006814,OMIM:300126.0004C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe)1736DKC1not providedrs121912306RCV000059287; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153994224153994224CTX:g.153994224C>TClinGen:CA266026,UniProtKB:O60832#VAR_063822,UniProtKB/Swiss-Prot:VAR_063822C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)1736DKC1Likely pathogenicrs121912305RCV000012350|RCV000055630|RCV000479038; NMONDO:MONDO:0018045,MedGen:C1846142, Orphanet:3322|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN517202X153994588153994588AGX:g.153994588A>GClinGen:CA264767,UniProtKB:O60832#VAR_015676,UniProtKB/Swiss-Prot:VAR_015676,OMIM:300126.0011
NM_001363.5(DKC1):c.369G>T (p.Thr123=)1736DKC1Benign/Likely benignrs2728532RCV000153151|RCV000787028|RCV001514140; NMedGen:CN169374|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775X153994596153994596GTX:g.153994596G>TClinGen:CA179969
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)1736DKC1Uncertain significancers199422246RCV000032201|RCV000079663; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN517202X153995295153995295CTX:g.153995295C>TClinGen:CA221683C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)1736DKC1Benignrs146700772RCV000032203|RCV000634503|RCV001573922; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202X153997508153997508ACX:g.153997508A>CClinGen:CA343247C0265965 Dyskeratosis congenita;
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn)1736DKC1Pathogenicrs199422247RCV000032204; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153997581153997581GAX:g.153997581G>AClinGen:CA343250C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)1736DKC1Pathogenicrs199422248RCV000032206; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153999059153999059AGX:g.153999059A>GClinGen:CA343256C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.949C>G (p.Leu317Val)1736DKC1Pathogenicrs121912290RCV000032207; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153999067153999067CGX:g.153999067C>GClinGen:CA343259C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)1736DKC1Pathogenicrs121912290RCV000032208; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153999067153999067CTX:g.153999067C>TClinGen:CA343262,UniProtKB:O60832#VAR_063823,UniProtKB/Swiss-Prot:VAR_063823C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.961C>G (p.Leu321Val)1736DKC1Pathogenicrs2728726RCV000032209; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X153999079153999079CGX:g.153999079C>GClinGen:CA343264,UniProtKB:O60832#VAR_010081,UniProtKB/Swiss-Prot:VAR_010081C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)1736DKC1Uncertain significancers121912291RCV000032210|RCV001294532; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775X153999083153999083GAX:g.153999083G>AClinGen:CA343266,UniProtKB:O60832#VAR_063824,UniProtKB/Swiss-Prot:VAR_063824C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)1736DKC1Pathogenicrs121912300RCV000032182; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154001418154001418TCX:g.154001418T>CClinGen:CA343198,UniProtKB:O60832#VAR_010083,UniProtKB/Swiss-Prot:VAR_010083C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)1736DKC1Pathogenicrs121912298RCV000032183; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154001419154001419GAX:g.154001419G>AClinGen:CA343200,UniProtKB:O60832#VAR_010082,UniProtKB/Swiss-Prot:VAR_010082C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)1736DKC1Likely pathogenicrs1114167422RCV000491810; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154001423154001423AGX:g.154001423A>GClinGen:CA414895026C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)1736DKC1Pathogenicrs121912288RCV000012343|RCV000464438; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775X154001427154001427CTX:g.154001427C>TClinGen:CA341116,UniProtKB:O60832#VAR_009264,UniProtKB/Swiss-Prot:VAR_009264,OMIM:300126.0006C0265965 Dyskeratosis congenita;
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)1736DKC1Pathogenicrs137854492RCV000012353; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154001438154001438AGX:g.154001438A>GClinGen:CA255934,OMIM:300126.0014C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn)1736DKC1Pathogenicrs199422249RCV000032184; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154001444154001444GAX:g.154001444G>AClinGen:CA343202C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)1736DKC1Pathogenicrs1057520719RCV000442656|RCV000779660|RCV001257984; NMedGen:CN517202|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|Human Phenotype Ontology:HP:0001321,Human Phenotype Ontology:HP:0006806,Human Phenotype Ontology:HP:0006910,Human Phenotype Ontology:HP:0007038,Human Phenotype Ontology:HP:0007053,MONDO:MONX154001502154001502GAX:g.154001502G>AClinGen:CA16608850
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser)1736DKC1Pathogenicrs199422250RCV000032185; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154001519154001519CTX:g.154001519C>TClinGen:CA343205
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu)1736DKC1Pathogenicrs199422251RCV000032186; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154001520154001520CTX:g.154001520C>TClinGen:CA343208C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)1736DKC1Pathogenicrs199422252RCV000032187; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154002877154002877GAX:g.154002877G>AClinGen:CA343211C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro)1736DKC1Pathogenicrs199422253RCV000032189; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154002914154002914TCX:g.154002914T>CClinGen:CA343216C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1195G>C (p.Asp399His)1736DKC1Likely pathogenicrs2071871731RCV001172399; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154002916154002916GCX:g.154002916G>C-
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)1736DKC1Pathogenicrs121912299RCV000032190; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154002925154002925GAX:g.154002925G>AClinGen:CA343219,UniProtKB:O60832#VAR_010084,UniProtKB/Swiss-Prot:VAR_010084C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)1736DKC1Pathogenicrs121912295RCV000012342; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154002926154002926GAX:g.154002926G>AClinGen:CA341114,UniProtKB:O60832#VAR_006815,UniProtKB/Swiss-Prot:VAR_006815,OMIM:300126.0005C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)1736DKC1Conflicting interpretations of pathogenicityrs199422254RCV000032192|RCV000255428|RCV001048156; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775X154002944154002944CTX:g.154002944C>TClinGen:CA343223C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)1736DKC1Pathogenicrs121912289RCV000032193; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154002947154002947CTX:g.154002947C>TClinGen:CA343226,UniProtKB:O60832#VAR_063825,UniProtKB/Swiss-Prot:VAR_063825C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)1736DKC1Likely pathogenicrs1557265435RCV000501902; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154002976154002976TAX:g.154002976T>AClinGen:CA414898480C1148551 305000 Dyskeratosis congenita X-linked;
NM_001363.5(DKC1):c.1259+1G>A1736DKC1Pathogenicrs1569558616RCV000012354; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154002981154002981GAX:g.154002981G>AOMIM:300126.0015
NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del)1736DKC1Uncertain significance-1RCV001732878; NMONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000X154004552154004554CAAGC154004551-
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)1736DKC1Benignrs782576893RCV000192917|RCV000228305|RCV000615358|RCV001573717; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN517202X154005088154005089CCAAGX:g.154005088_154005089insAAGClinGen:CA206067C0265965 Dyskeratosis congenita;
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)1736DKC1Conflicting interpretations of pathogenicityrs782576893RCV000234537|RCV000395921|RCV000758194|RCV001574024; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN517202X154005089154005091CAAGCX:g.154005089_154005091delClinGen:CA10567298
NM_001363.5(DKC1):c.*6G>A1736DKC1Benignrs1800533RCV000153152|RCV001657874|RCV001719950; NMedGen:CN169374|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MedGen:CN517202X154005148154005148GAX:g.154005148G>AClinGen:CA179972CN169374 not specified;
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