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*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Ataxia (D001259)
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Brain Neoplasms (D001932)
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Calcinosis (D002114)
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Central Nervous System Cysts (D020863)
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Leukoencephalopathies (D056784)
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Muscle Spasticity (D009128)
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Retinal Diseases (D012164)
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Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..expandDysmyelination With Jaundice (C565610)
..expandGlycosylphosphatidylinositol deficiency (C537277)
..expandHyper-Beta-Alaninemia (C562684)
..expandHYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462)  LSDB  L: 00479;
..expandHyperleucine-Isoleucinemia (C562674)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..expandMuller Barth Menger syndrome (C537370)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..expandNEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..expandSeizures, Febrile (D003294) Child21
..expandSeSAME syndrome (C557674)
..expandStatus Epilepticus (D013226) Child1
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWHITE-SUTTON SYNDROME (OMIM:616364)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2130
Name:Cerebroretinal Microangiopathy with Calcifications and Cysts
Definition:
Alternative IDs:OMIM:612199|OMIM:617341
ParentIDs:MESH:D001259|MESH:D001932|MESH:D002114|MESH:D009128|MESH:D012164|MESH:D012640|MESH:D020863|MESH:D056784
TreeNumbers:C04.588.614.250.195/C567401 |C04.588.614.250.387/C567401 |C05.651.512/C567401 |C10.228.140.211/C567401 |C10.228.140.695/C567401 |C10.500.142/C567401 |C10.551.240.250/C567401 |C10.551.240.375/C567401 |C10.597.350.090/C567401 |C10.597.613.550.550/C567401 |C10.597.74
Synonyms:CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 |CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 |Coats Plus Syndrome |CRMCC |CRMCC1 |CRMCC2
Slim Mappings:Cancer|Congenital abnormality|Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C567401
MeSH: C567401
OMIM: 612199;
MSeqDR LSDB:  
Genes: CTC1; PAM16;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0007256Abnormal pyramidal signs
4 HP:0002071Abnormality of extrapyramidal motor function
5 HP:0001903Anemia
6 HP:0001251Ataxia
7 HP:0000618Blindness
8 HP:0005528Bone marrow hypocellularityHP:0040283
9 HP:0002514Cerebral calcification
10 HP:0001260Dysarthria
NAMDC:  Dysarthria
11 HP:0001332Dystonia
NAMDC:  Dystonia
12 HP:0007898Exudative retinopathy
13 HP:0002857Genu valgum
14 HP:0002301Hemiplegia
15 HP:0002659Increased susceptibility to fractures
16 HP:0002584Intestinal bleeding
17 HP:0001511Intrauterine growth retardation
18 HP:0002415Leukodystrophy
19 HP:0002352Leukoencephalopathy
20 HP:0001268Mental deterioration
21 HP:0004979Metaphyseal sclerosis
22 HP:0002062Morphological abnormality of the pyramidal tract
23 HP:0002164Nail dysplasia
24 HP:0000648Optic atrophy
25 HP:0002745Oral leukoplakiaHP:0040283
26 HP:0000938Osteopenia
27 HP:0000939Osteoporosis
28 HP:0002756Pathologic fracture
29 HP:0003812Phenotypic variability
30 HP:0008897Postnatal growth retardation
31 HP:0003676Progressive
32 HP:0007763Retinal telangiectasia
33 HP:0002650Scoliosis
34 HP:0001250Seizures
NAMDC:  Seizures
35 HP:0100864Short femoral neck
36 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
37 HP:0008070Sparse hair
38 HP:0001257Spasticity
NAMDC:  Spasticity
39 HP:0000963Thin skin
40 HP:0001873ThrombocytopeniaHP:0040283
41 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_025099.6(CTC1):c.*43C>T80169CTC1Benign/Likely benignrs3027245RCV000282536|RCV001572105|RCV001807213; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781314558131455NC_000017.10:g.8131455G>AClinGen:CA8371685CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln)80169CTC1Uncertain significancers778830884RCV000500962|RCV000818931|RCV001807274; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781315478131547NC_000017.10:g.8131547C>TClinGen:CA8371698CN169374 not specified;
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)80169CTC1Conflicting interpretations of pathogenicityrs147714487RCV000732314|RCV001081646|RCV001330034|RCV001816802; NMedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN1693741781315488131548NC_000017.10:g.8131548G>A-
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=)80169CTC1Benign/Likely benignrs115990839RCV000460034|RCV001569421|RCV001807214; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781315618131561NC_000017.10:g.8131561G>CClinGen:CA8371703C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)80169CTC1Pathogenicrs199473682RCV000023994; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178131569813156917:g.8131569G>AClinGen:CA129615,OMIM:613129.0009C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter)80169CTC1Uncertain significancers200919310RCV000520835|RCV001204312|RCV001807291; NMedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178131620813162017:g.8131620G>AClinGen:CA8371718CN169374 not specified;
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln)80169CTC1Uncertain significancers201788219RCV000692068|RCV001807215; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781316288131628NC_000017.10:g.8131628C>TClinGen:CA8371721C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile)80169CTC1Uncertain significancers377491661RCV001122528|RCV001807383; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178131830813183017:g.8131830C>T-
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)80169CTC1Conflicting interpretations of pathogenicityrs369209127RCV000866336|RCV001807366; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178131837813183717:g.8131837C>T-
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu)80169CTC1Uncertain significancers766537691RCV001122529|RCV001807384|RCV002269338; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN517202178131841813184117:g.8131841G>A-
NM_025099.6(CTC1):c.3425T>A (p.Leu1142His)80169CTC1Pathogenicrs201455840RCV000023992; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178131910813191017:g.8131910A>TClinGen:CA129613,UniProtKB:Q2NKJ3#VAR_067378,OMIM:613129.0008C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys)80169CTC1Uncertain significance-1RCV001968749|RCV002484847; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817813192981319298131929-
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys)80169CTC1Uncertain significancers201885165RCV001051224|RCV001726117|RCV001807216; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781321858132185NC_000017.10:g.8132185C>TClinGen:CA8371820CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.3222-4A>G80169CTC1Conflicting interpretations of pathogenicityrs562479062RCV000502629|RCV000869171|RCV001807272; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781322148132214NC_000017.10:g.8132214T>CClinGen:CA8371823CN169374 not specified;
NM_025099.6(CTC1):c.3221+1G>A80169CTC1Likely pathogenic-1RCV001780892; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817813245981324598132459-
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser)80169CTC1Uncertain significancers373875495RCV001045810|RCV001807377; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178132485813248517:g.8132485T>A-
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met)80169CTC1Uncertain significancers1001797761RCV001281682|RCV001871643; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:177517813249081324908132490-
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)80169CTC1Conflicting interpretations of pathogenicityrs777357385RCV000813460|RCV001807217; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781324918132491NC_000017.10:g.8132491T>CClinGen:CA8371851CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=)80169CTC1Benign/Likely benignrs3027242RCV000475889|RCV000508478|RCV001558081|RCV001807218; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781326238132623NC_000017.10:g.8132623C>GClinGen:CA8371874C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)80169CTC1Uncertain significance-1RCV002584446|RCV003146586; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781326248132624NC_000017.10:g.8132624C>T-
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)80169CTC1Pathogenic-1RCV001046110|RCV001281622|RCV001784596; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178132757813275717:g.8132757_8132757del-
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)80169CTC1Benignrs3826543RCV000116841|RCV000367367|RCV001618270|RCV001657711; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178132763813276317:g.8132763T>CClinGen:CA152515,UniProtKB:Q2NKJ3#VAR_032283CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer)80169CTC1Likely pathogenicrs1567599993RCV000681636; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781332238133224NC_000017.10:g.8133228dup-C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)80169CTC1Pathogenicrs761922947RCV000801567|RCV002501073; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178133223813322417:g.8133223_8133224del-
NM_025099.6(CTC1):c.2996C>A (p.Pro999His)80169CTC1Uncertain significancers780572571RCV001352301|RCV001267754; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178133224813322417:g.8133224G>T-
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=)80169CTC1Benign/Likely benignrs62637613RCV000464597|RCV000758247|RCV001578026; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN5172021781332478133247NC_000017.10:g.8133247A>GClinGen:CA8371927
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)80169CTC1Pathogenicrs202138550RCV000533706|RCV001268611|RCV000023987; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178133261813326117:g.8133261G>AClinGen:CA129608,UniProtKB:Q2NKJ3#VAR_067377,OMIM:613129.0002C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)80169CTC1Pathogenicrs199473679RCV000033248|RCV000475703|RCV000503047|RCV001797048; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0012815,MedGen:C2677299,OMIM:PS612199, Orphanet:313838|MedGen:CN517202178133264813326617:g.8133264_8133266delClinGen:CA130802,OMIM:613129.0012CN282828 Cerebroretinal microangiopathy with calcifications and cysts;
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)80169CTC1Conflicting interpretations of pathogenicityrs199473678RCV000778131|RCV001560718|RCV001869130; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:17751781336228133622NC_000017.10:g.8133622T>C-
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)80169CTC1Conflicting interpretations of pathogenicityrs373530008RCV000861919|RCV001807219|RCV001820982; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN1693741781336508133650NC_000017.10:g.8133650G>AClinGen:CA8371952CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.2831del (p.Pro944fs)80169CTC1Pathogenicrs199473677RCV000233824|RCV000255650|RCV000825561|RCV000023991; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0012815,MedGen:C2677299,OMIM:PS612199, Orphanet:313838|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781337148133714NC_000017.10:g.8133719delClinGen:CA129612,OMIM:613129.0007C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe)80169CTC1Uncertain significancers542477730RCV000634498|RCV000764152; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781337428133742NC_000017.10:g.8133742G>AClinGen:CA8371962C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr)80169CTC1Uncertain significancers369721966RCV001209591|RCV001760179|RCV001807393; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178133745813374517:g.8133745C>T-
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp)80169CTC1Uncertain significancers771646414RCV000557514|RCV000764153; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781337788133778NC_000017.10:g.8133778C>AClinGen:CA8371971C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2758+1G>T80169CTC1Likely pathogenicrs200609323RCV000634497|RCV000763024; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178133880813388017:g.8133880C>AClinGen:CA8371986C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu)80169CTC1Uncertain significancers761241839RCV000823341|RCV002487854; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178133953813395317:g.8133953C>A-
NM_025099.6(CTC1):c.2611G>A (p.Val871Met)80169CTC1Uncertain significancers369255297RCV001304499|RCV000023988; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178134652813465217:g.8134652C>TClinGen:CA129609,UniProtKB:Q2NKJ3#VAR_067374,OMIM:613129.0003C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter)80169CTC1Pathogenic-1RCV001780589|RCV001868832; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:177517813468281346828134682-
NM_025099.6(CTC1):c.2522G>A (p.Arg841His)80169CTC1Conflicting interpretations of pathogenicityrs780358670RCV001241949|RCV001819943|RCV001558827|RCV001807394; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178134741813474117:g.8134741C>T-
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)80169CTC1Conflicting interpretations of pathogenicityrs373905859RCV001051564|RCV001551084|RCV000023990; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178134745813474517:g.8134745G>AUniProtKB:Q2NKJ3#VAR_067373,OMIM:613129.0005,ClinGen:CA129611C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro)80169CTC1Uncertain significancers62637612RCV000327908|RCV000658769|RCV001807220|RCV002521132; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MeSH:D030342,MedGen:C09501231781347578134757NC_000017.10:g.8134757A>GClinGen:CA8372043CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)80169CTC1Conflicting interpretations of pathogenicityrs200643329RCV000231025|RCV000501561|RCV001573147|RCV001807147; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781347858134785NC_000017.10:g.8134785T>CClinGen:CA8372049C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)80169CTC1Benignrs3027238RCV000116840|RCV000267880|RCV001657710|RCV001650952; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN517202178135061813506117:g.8135061T>CUniProtKB:Q2NKJ3#VAR_032282,ClinGen:CA152513CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln)80169CTC1Uncertain significancers772328631RCV000989746|RCV001858714; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775178135066813506617:g.8135066C>T-
NM_025099.6(CTC1):c.2439G>A (p.Pro813=)80169CTC1Conflicting interpretations of pathogenicityrs200759730RCV001062476|RCV001807221; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781350808135080NC_000017.10:g.8135080C>TClinGen:CA8372081CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.2386-1G>A80169CTC1Likely pathogenicrs199861310RCV001203903|RCV001809993; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135134813513417:g.8135134C>T-
NM_025099.6(CTC1):c.2386-13T>G80169CTC1Benignrs3027237RCV000377540|RCV001643015|RCV001807222; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781351468135146NC_000017.10:g.8135146A>CClinGen:CA8372096CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)80169CTC1Uncertain significancers754090012RCV001128340|RCV001807388; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135235813523517:g.8135235C>T-
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys)80169CTC1Benignrs201561504RCV000558443|RCV001807294; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135253813525317:g.8135253C>TClinGen:CA8372117C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2346del (p.Leu783fs)80169CTC1Pathogenic-1RCV002249848; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817813526081352608135259-
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp)80169CTC1Uncertain significancers1427706121RCV001128341|RCV001807389; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135273813527317:g.8135273C>T-
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys)80169CTC1Uncertain significancers201879837RCV000634487|RCV001807223; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781352998135299NC_000017.10:g.8135299C>AClinGen:CA8372125C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)80169CTC1Conflicting interpretations of pathogenicityrs139078502RCV000807547|RCV001197513; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135328813532817:g.8135328C>T-
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala)80169CTC1Uncertain significancers370354906RCV000689335|RCV002485627; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135346813534617:g.8135346G>C-C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)80169CTC1Conflicting interpretations of pathogenicityrs201891953RCV000194118|RCV000545908|RCV000764154|RCV001508436|RCV002517927; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN517202|MeSH:D030342,MedGen:C09501231781354148135414NC_000017.10:g.8135414C>TClinGen:CA208071C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala)80169CTC1Benign/Likely benignrs62620189RCV000227830|RCV000508374|RCV001564994|RCV001658070; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781354448135444NC_000017.10:g.8135444C>GClinGen:CA8372148C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2160C>T (p.Thr720=)80169CTC1Benignrs3027235RCV000507869|RCV000475152|RCV001807224|RCV001675825; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN5172021781354468135446NC_000017.10:g.8135446G>AClinGen:CA8372150C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu)80169CTC1Benign/Likely benignrs62637610RCV000473995|RCV000758246|RCV001591106|RCV001821299; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN517202|MedGen:CN1693741781354528135452NC_000017.10:g.8135452A>TClinGen:CA8372153
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr)80169CTC1Uncertain significancers1567604032RCV000698304|RCV001172448|RCV002533519; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MeSH:D030342,MedGen:C0950123178135478813547817:g.8135478C>T-C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys)80169CTC1Uncertain significancers764799661RCV001122623|RCV002070002; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135727813572717:g.8135727G>C-
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)80169CTC1Pathogenicrs199473676RCV000023993; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135745813574517:g.8135745A>CClinGen:CA129614,UniProtKB:Q2NKJ3#VAR_067372,OMIM:613129.0006C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)80169CTC1Conflicting interpretations of pathogenicityrs775779700RCV000533572|RCV000764155; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781357818135781NC_000017.10:g.8135781C>TClinGen:CA8372213C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp)80169CTC1Uncertain significancers200222583RCV000487648|RCV001054883|RCV001807225|RCV002521133; NMedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MeSH:D030342,MedGen:C09501231781357828135782NC_000017.10:g.8135782G>AClinGen:CA8372214CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.1946-6C>T80169CTC1Conflicting interpretations of pathogenicityrs369285521RCV000869092|RCV001122624|RCV001807367; NMedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178135799813579917:g.8135799G>A-
NM_025099.6(CTC1):c.1899G>C (p.Leu633=)80169CTC1Likely benign-1RCV002181780|RCV002496110; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817813627081362708136270-
NM_025099.6(CTC1):c.1818+36C>T80169CTC1Benign-1RCV001661318|RCV001694154; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN51720217813773781377378137737-
NM_025099.6(CTC1):c.1818+1G>A80169CTC1Likely pathogenic-1RCV001780891; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817813777281377728137772-
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser)80169CTC1Benign/Likely benignrs183556317RCV000473282|RCV001807226|RCV001820983; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN1693741781377968137796NC_000017.10:g.8137796G>AClinGen:CA8372259C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys)80169CTC1Uncertain significancers759152295RCV001062517|RCV001760029|RCV001807379|RCV002555812; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MeSH:D030342,MedGen:C0950123178137826813782617:g.8137826G>A-
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)80169CTC1Pathogenic-1RCV001385981|RCV001780351; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817813783881378388137838-
NM_025099.6(CTC1):c.1734C>T (p.Ala578=)80169CTC1Conflicting interpretations of pathogenicityrs374985738RCV000544541|RCV001807227; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781378578137857NC_000017.10:g.8137857G>AClinGen:CA8372267C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)80169CTC1Conflicting interpretations of pathogenicityrs78320653RCV000503687|RCV000634522|RCV001753785|RCV001807228; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781378638137863NC_000017.10:g.8137863C>TClinGen:CA8372269C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)80169CTC1Conflicting interpretations of pathogenicityrs200440641RCV000469334|RCV000500603|RCV001551204|RCV001807256; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781378718137871NC_000017.10:g.8137871G>AClinGen:CA8372273C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1682G>A (p.Arg561His)80169CTC1Uncertain significancers373690929RCV001316577|RCV001810025; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817813790981379098137909-
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln)80169CTC1Uncertain significancers776684484RCV000502011|RCV001218861|RCV001807270; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781379668137966NC_000017.10:g.8137966C>TClinGen:CA8372285CN169374 not specified;
NM_025099.6(CTC1):c.1617+11G>A80169CTC1Benignrs114425026RCV001123716|RCV001807385; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178138056813805617:g.8138056C>T-
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile)80169CTC1Uncertain significancers201560353RCV000699938|RCV000996487|RCV001335134; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178138099813809917:g.8138099G>T-C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp)80169CTC1Conflicting interpretations of pathogenicityrs199698527RCV000538568|RCV001821518|RCV001839012|RCV002527700; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MeSH:D030342,MedGen:C0950123178138120813812017:g.8138120G>AClinGen:CA8372315C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)80169CTC1Conflicting interpretations of pathogenicityrs781000475RCV000877422|RCV001807369|RCV002264038; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN517202178138136813813617:g.8138136C>T-
NM_025099.6(CTC1):c.1535A>T (p.Asp512Val)80169CTC1Uncertain significance-1RCV002471981; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781381498138149NC_000017.10:g.8138149T>A-
NM_025099.6(CTC1):c.1500C>T (p.Pro500=)80169CTC1Conflicting interpretations of pathogenicityrs761750183RCV000873101|RCV001807229; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178138184813818417:g.8138184G>AClinGen:CA8372330CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)80169CTC1Conflicting interpretations of pathogenicityrs747887601RCV000428927|RCV000634491|RCV001807251; NMedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178138225813822517:g.8138225T>CClinGen:CA8372338C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1383G>A (p.Gln461=)80169CTC1Benign/Likely benignrs145192682RCV000116839|RCV000231128|RCV001582584|RCV001807055; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781384278138427NC_000017.10:g.8138427C>TClinGen:CA152511C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys)80169CTC1Uncertain significancers561676622RCV001281683|RCV001871644|RCV002542963; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MeSH:D030342,MedGen:C095012317813843281384328138432-
NM_025099.6(CTC1):c.1307G>A (p.Arg436His)80169CTC1Benign/Likely benignrs75790638RCV000227238|RCV001577347|RCV001807146; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178138503813850317:g.8138503C>TClinGen:CA8372389C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala)80169CTC1Benignrs62624978RCV000233633|RCV000506611|RCV001658069|RCV001682944; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN5172021781385698138569NC_000017.10:g.8138569C>GClinGen:CA8372409C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu)80169CTC1Uncertain significancers62624978RCV001070872|RCV001807381; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178138569813856917:g.8138569C>T-
NM_025099.6(CTC1):c.1207-4C>T80169CTC1Conflicting interpretations of pathogenicityrs369904656RCV000542061|RCV001087623|RCV001335133|RCV001821517; NMedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN169374178138607813860717:g.8138607G>AClinGen:CA8372419C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His)80169CTC1Uncertain significancers1200884099RCV001126383|RCV001772332|RCV001807387; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178139238813923817:g.8139238A>G-
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs)80169CTC1Pathogenicrs773120259RCV001068688|RCV001784624; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178139379813938317:g.8139379_8139383del-
NM_025099.6(CTC1):c.1058del (p.Ser353fs)80169CTC1Pathogenicrs199473675RCV000023996; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178139395813939517:g.8139395_8139395delClinGen:CA129618,OMIM:613129.0011C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly)80169CTC1Benign/Likely benignrs78390421RCV000461111|RCV001547192|RCV001807230; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178139428813942817:g.8139428T>CClinGen:CA8372499C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.990C>T (p.Asp330=)80169CTC1Benignrs74506939RCV000116842|RCV000306586|RCV001668227|RCV001807056; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781394638139463NC_000017.10:g.8139463G>AClinGen:CA152517CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser)80169CTC1Uncertain significance-1RCV001983225|RCV002479595; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817813947381394738139473-
NM_025099.6(CTC1):c.951_956del (p.318LE[2])80169CTC1Uncertain significancers766700799RCV001281684|RCV001871645; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:177517813949781395028139496-
NM_025099.6(CTC1):c.917G>A (p.Arg306His)80169CTC1Uncertain significancers567779457RCV001068992|RCV001807380; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178139536813953617:g.8139536C>T-
NM_025099.6(CTC1):c.862G>A (p.Val288Met)80169CTC1Conflicting interpretations of pathogenicityrs201553464RCV000553611|RCV000764156|RCV001764545; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN5172021781395918139591NC_000017.10:g.8139591C>TClinGen:CA8372533C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)80169CTC1Pathogenicrs397514660RCV000033249|RCV001794465|RCV001852668; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775178139594813959417:g.8139594G>AClinGen:CA130804,OMIM:613129.0013C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)80169CTC1Conflicting interpretations of pathogenicityrs768853291RCV000817639|RCV001281621|RCV001807347; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178139620813962017:g.8139620C>A-
NM_025099.6(CTC1):c.775G>A (p.Val259Met)80169CTC1Pathogenic/Likely pathogenicrs387907080RCV000798102|RCV001577148|RCV000023989; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178140710814071017:g.8140710C>TOMIM:613129.0004,ClinGen:CA129610,UniProtKB:Q2NKJ3#VAR_067370C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.738C>G (p.Ile246Met)80169CTC1Uncertain significancers1463129527RCV000686947|RCV001807315; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781407478140747NC_000017.10:g.8140747G>C-C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)80169CTC1Pathogenicrs199473674RCV000023986|RCV000456770|RCV000485968|RCV002513214; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MeSH:D030342,MedGen:C0950123178140758814076117:g.8140758_8140761delClinGen:CA129607,OMIM:613129.0001C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln)80169CTC1Benignrs201592575RCV000194010|RCV000634517|RCV001807137; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781407908140790NC_000017.10:g.8140790C>TClinGen:CA207879C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.680C>T (p.Ala227Val)80169CTC1Pathogenicrs199473673RCV002513215|RCV000023995; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178140805814080517:g.8140805G>AClinGen:CA129617,UniProtKB:Q2NKJ3#VAR_067369,OMIM:613129.0010C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts 1;
NM_025099.6(CTC1):c.663T>C (p.Gly221=)80169CTC1Conflicting interpretations of pathogenicityrs138725914RCV000634512|RCV001807231; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178140822814082217:g.8140822A>GClinGen:CA8372572C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.615C>T (p.Tyr205=)80169CTC1Conflicting interpretations of pathogenicityrs571035242RCV000500419|RCV000863925|RCV001807232; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781413818141381NC_000017.10:g.8141381G>AClinGen:CA8372600CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser)80169CTC1Uncertain significancers772395506RCV000507096|RCV001314651|RCV001807277; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781413988141398NC_000017.10:g.8141398G>AClinGen:CA8372601CN169374 not specified;
NM_025099.6(CTC1):c.597G>A (p.Thr199=)80169CTC1Conflicting interpretations of pathogenicityrs373023392RCV000541269|RCV001807296|RCV001821520; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN169374178141399814139917:g.8141399C>TClinGen:CA8372602C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.596C>T (p.Thr199Met)80169CTC1Uncertain significancers747323535RCV000303546|RCV001807233; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178141400814140017:g.8141400G>AClinGen:CA8372603CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.556G>C (p.Val186Leu)80169CTC1Uncertain significancers185346402RCV000528660|RCV001807295|RCV001821519|RCV002286751|RCV002527701; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN169374|MedGen:CN517202|MeSH:D030342,MedGen:C0950123178141440814144017:g.8141440C>GClinGen:CA8372608C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser)80169CTC1Uncertain significancers1385087993RCV000818884|RCV001807348|RCV001772129; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN517202178141494814149417:g.8141494G>A-
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu)80169CTC1Uncertain significance-1RCV001900869|RCV002463062|RCV002482738|RCV002554197; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MeSH:D030342,MedGen:C095012317814149681414968141496-
NM_025099.6(CTC1):c.477G>T (p.Leu159=)80169CTC1Benignrs200658590RCV000192789|RCV000634516|RCV001807136; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781415198141519NC_000017.10:g.8141519C>AClinGen:CA205855C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu)80169CTC1Uncertain significancers542910040RCV000806786|RCV001807234; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178141552814155217:g.8141552G>TClinGen:CA8372625CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.421G>A (p.Val141Ile)80169CTC1Uncertain significancers532695142RCV002491837|RCV001247317; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775178141724814172417:g.8141724C>T-
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)80169CTC1Conflicting interpretations of pathogenicityrs200137992RCV000820755|RCV001270120; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178141754814175417:g.8141754C>T-
NM_025099.6(CTC1):c.366A>G (p.Ala122=)80169CTC1Benignrs73244859RCV000459066|RCV000506660|RCV001660672|RCV001807235; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781417798141779NC_000017.10:g.8141779T>CClinGen:CA8372647C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.363G>A (p.Ser121=)80169CTC1Conflicting interpretations of pathogenicityrs770555372RCV000502493|RCV001415273|RCV001807271; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781417828141782NC_000017.10:g.8141782C>TClinGen:CA8372648CN169374 not specified;
NM_025099.6(CTC1):c.248_251dup (p.His84fs)80169CTC1Pathogenic/Likely pathogenicrs745467709RCV000809207|RCV001706708; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178141893814189417:g.8141893_8141894insTGGC-
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)80169CTC1Benign/Likely benignrs78870822RCV000194588|RCV000514253|RCV001080359|RCV001807135; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781418978141897NC_000017.10:g.8141897C>GClinGen:CA208842C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn)80169CTC1Uncertain significancers78870822RCV000989747|RCV001226654; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775178141897814189717:g.8141897C>T-
NM_025099.6(CTC1):c.233G>A (p.Arg78His)80169CTC1Benign/Likely benignrs369627256RCV000864591|RCV001807363; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178141912814191217:g.8141912C>T-
NM_025099.6(CTC1):c.197+15C>T80169CTC1Benign/Likely benignrs111473388RCV001555475|RCV001123818|RCV001807386; NMedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178146288814628817:g.8146288G>A-
NM_025099.6(CTC1):c.195T>C (p.Tyr65=)80169CTC1Conflicting interpretations of pathogenicityrs764616648RCV000634507|RCV001807312; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781463058146305NC_000017.10:g.8146305A>GClinGen:CA8372697C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.189C>G (p.Leu63=)80169CTC1Benign/Likely benignrs188658691RCV000462212|RCV001807236; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178146311814631117:g.8146311G>CClinGen:CA8372699C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.147C>T (p.Val49=)80169CTC1Conflicting interpretations of pathogenicityrs201492796RCV000504067|RCV000530550|RCV001531253|RCV001807273; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:3138381781463538146353NC_000017.10:g.8146353G>AClinGen:CA8372704C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.131_134del (p.Asp44fs)80169CTC1Likely pathogenic-1RCV001543678|RCV001837540; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN51720217814636681463698146365-
NM_025099.6(CTC1):c.126A>G (p.Val42=)80169CTC1Benign/Likely benignrs116271319RCV000471528|RCV001568998|RCV001807237; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178146374814637417:g.8146374T>CClinGen:CA8372710C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.34-9T>G80169CTC1Conflicting interpretations of pathogenicityrs201195157RCV000547685|RCV001172447|RCV001569942; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MedGen:CN5172021781464758146475NC_000017.10:g.8146475A>CClinGen:CA8372726C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.33C>T (p.Ser11=)80169CTC1Uncertain significancers757066174RCV000388571|RCV001807238; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178151322815132217:g.8151322G>AClinGen:CA8372747CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.24C>A (p.Val8=)80169CTC1Conflicting interpretations of pathogenicityrs749818659RCV000865988|RCV001448256|RCV001807365; NMedGen:CN517202|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178151331815133117:g.8151331G>T-
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)80169CTC1Pathogenicrs374877315RCV001213645|RCV002249804; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178151336815133617:g.8151336G>A-
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly)80169CTC1Uncertain significancers201280372RCV000294179|RCV001807239; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178151342815134217:g.8151342G>CClinGen:CA8372766CN239315 Dyskeratosis Congenita, Recessive;
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)80169CTC1Conflicting interpretations of pathogenicityrs201280372RCV000501146|RCV000634521|RCV001172451|RCV002527228; NMedGen:CN169374|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MeSH:D030342,MedGen:C09501231781513428151342NC_000017.10:g.8151342G>AClinGen:CA8372764C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.8C>T (p.Ala3Val)80169CTC1Uncertain significancers923853643RCV000705208|RCV001270139|RCV001807316; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MedGen:CN517202|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838178151347815134717:g.8151347G>A-C0265965 Dyskeratosis congenita;
NM_025099.6(CTC1):c.2T>A (p.Met1Lys)80169CTC1Pathogenic-1RCV001780890|RCV002541187; NMONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:313838|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:177517815135381513538151353-
NM_025099.6(CTC1):c.1A>C (p.Met1Leu)80169CTC1Likely pathogenic-1RCV001378112|RCV001780284; NMONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550, Orphanet:1775|MONDO:MONDO:0024564,MedGen:C4552029,OMIM:612199, Orphanet:31383817815135481513548151354-
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