MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Abnormalities, Multiple (D000015)
Parent Node:
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Malignant Hyperthermia (D008305)
Parent Node:
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Skin Abnormalities (D012868)
..Starting node
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Multiple pterygium syndrome (C537377)

       Child Nodes:
........expandMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)



 Sister Nodes: 
..expandAcrodermatitis (D000169) Child1
..expandAnetoderma (D057088) Child2
..expandArthropathy, Erosive (C565273)
..expandAUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
..expandBarber Say syndrome (C537908)
..expandBlepharophimosis syndrome type 1 (C536233)
..expandBlepharophimosis syndrome type 2 (C536234)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..expandBook Syndrome (C562993)
..expandBrittle cornea syndrome 1 (C536192)
..expandC1q DEFICIENCY (OMIM:613652)
..expandCarney Complex (D056733) Child1
..expandCOCOON SYNDROME (OMIM:613630)
..expandComedones, Familial Dyskeratotic (C562838)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandDermal Ridges, Nelson Syndrome (C565110)
..expandDermal Ridges, Patternless (C565109)
..expandDermoodontodysplasia (C565103)
..expandDyskeratosis Congenita (D019871) Child3
..expandDyskeratosis, Hereditary Benign Intraepithelial (C562551)
..expandEctodermal Dysplasia (D004476) Child144  LSDB C:1
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandEpithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..expandFamilial popliteal pterygium syndrome (C535891)
..expandHairy palms and soles (C535620)
..expandHemangiomatosis, Cutaneous, with Associated Features (C562438)
..expandHyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..expandHypohidrosis with Abnormal Palmar Dermal Ridges (C565481)
..expandIchthyosis (D007057) Child66
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandIncontinentia Pigmenti (D007184) Child2
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandKOSAKI OVERGROWTH SYNDROME (OMIM:616592)
..expandLINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 (OMIM:300952)
..expandMichelin tire baby syndrome (C537575)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMultiple pterygium syndrome (C537377) Child1
..expandOculocerebrocutaneous syndrome (C538088)
..expandPoikiloderma with Neutropenia (C565820)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPort-Wine Stain (D019339) Child4
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandPterygium Colli, Isolated (C566741)
..expandRidges-off-the-end syndrome (C531754)
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSclerema Neonatorum (D012593)
..expandSkin-Hair-Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin-Hair-Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin-Hair-Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin-Hair-Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin-Hair-Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin-Hair-Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin-Hair-Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin-Hair-Eye Pigmentation, Variation In, 9 (C567091)
..expandTight skin contracture syndrome, lethal (C536920)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandUrban Schosser Spohn syndrome (C536476)
..expandVascular Hyalinosis (C564750)
..expandWinter Shortland Temple syndrome (C536735)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8266
Name:Multiple pterygium syndrome
Definition:
Alternative IDs:DO:DOID:0080110|OMIM:265000
ParentIDs:MESH:D000015|MESH:D008305|MESH:D012868
TreeNumbers:C16.131.077/C537377 |C16.131.831/C537377 |C17.800.804/C537377 |C23.550.505.700/C537377 |C23.550.767.600/C537377
Synonyms:Escobar syndrome |EVMPS |Familial Pterygium Syndrome |Lethal multiple pterygium syndrome |MULTIPLE PTERYGIUM SYNDROME |Multiple Pterygium Syndrome, Escobar Variant |Multiple pterygium syndrome lethal type |Multiple Pterygium Syndrome, Lethal Type |Multiple Ptery
Slim Mappings:Congenital abnormality|Pathology (process)|Skin disease
Reference: MedGen: C537377
MeSH: C537377
OMIM: 265000;
MSeqDR LSDB:  
Genes: CHRNG;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000464Abnormality of the neck
3 HP:0008729Absence of labia majora
4 HP:0009760Antecubital pterygium
5 HP:0009761Anterior clefting of vertebral bodies
6 HP:0001166Arachnodactyly
7 HP:0002804Arthrogryposis multiplex congenita
8 HP:0001060Axillary pterygia
9 HP:0005617Bilateral camptodactyly
10 HP:0001836Camptodactyly of toe
11 HP:0000175Cleft palate
12 HP:0000405Conductive hearing impairment
13 HP:0000776Congenital diaphragmatic hernia
14 HP:0000028Cryptorchidism
15 HP:0001558Decreased fetal movement
16 HP:0009110Diaphragmatic eventration
17 HP:0003083Dislocated radial head
18 HP:0000494Downslanted palpebral fissures
19 HP:0002714Downturned corners of mouth
20 HP:0006446Dysplastic patella
21 HP:0000286Epicanthus
22 HP:0004459Exostosis of the external auditory canal
23 HP:0002949Fused cervical vertebrae
24 HP:0000218High palate
25 HP:0002827Hip dislocation
26 HP:0000316Hypertelorism
27 HP:0002557Hypoplastic nipples
28 HP:0000047Hypospadias
29 HP:0000023Inguinal hernia
30 HP:0009757Intercrural pterygium
31 HP:0002808Kyphosis
32 HP:0000890Long clavicles
33 HP:0000276Long face
34 HP:0000343Long philtrum
35 HP:0000369Low-set ears
36 HP:0000347Micrognathia
37 HP:0000160Narrow mouth
38 HP:0009759Neck pterygia
39 HP:0002643Neonatal respiratory distress
40 HP:0006443Patellar aplasia
41 HP:0009756Popliteal pterygium
42 HP:0000508Ptosis
NAMDC:  Ptosis
43 HP:0002089Pulmonary hypoplasia
44 HP:0000902Rib fusion
45 HP:0001838Rocker bottom foot
46 HP:0002650Scoliosis
47 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
48 HP:0001159Syndactyly
49 HP:0001884Talipes calcaneovalgus
50 HP:0001762Talipes equinovarus
51 HP:0001537Umbilical hernia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001039523.3(CHRNA1):c.854-12_854-11del1134CHRNA1Uncertain significancers1491478953RCV000283001|RCV000342138; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:2990|MedGen:CN2392462175614908175614909CCAC2:g.175614908_175614909delClinGen:CA10611417
NM_000079.4(CHRNA1):c.779-13_779-12del1134CHRNA1Benignrs67309103RCV000338507|RCV000407750|RCV000615975; NMedGen:CN239246|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN1693742175614909175614910CAAC2:g.175614909_175614910delClinGen:CA1974454
NM_000079.4(CHRNA1):c.779-12del1134CHRNA1Uncertain significancers67309103RCV000297624|RCV000407715; NMedGen:CN239246|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902175614909175614909CAC2:g.175614909_175614909delClinGen:CA1974455
NM_000079.4(CHRNA1):c.190-5del1134CHRNA1Benignrs34695580RCV000253666|RCV000311146|RCV000401626; NMedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN2392462175624108175624108GAG2:g.175624108_175624108delClinGen:CA1974671
NM_000751.3(CHRND):c.*144_*145insAG1144CHRNDUncertain significancers530814490RCV000285711|RCV000396956; NMedGen:CN239246|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233400165233400166TTGA2:g.233400165_233400166insGAClinGen:CA2168408
NM_000751.3(CHRND):c.*149A>G1144CHRNDConflicting interpretations of pathogenicityrs114315112RCV000310467|RCV000365240|RCV001138184|RCV001138185; NMedGen:CN239246|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233400171233400171AG2:g.233400171A>GClinGen:CA2168411
NM_000751.3(CHRND):c.*424C>T1144CHRNDBenign/Likely benignrs4973046RCV000262869|RCV000317946|RCV001143027|RCV001143028; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN239246|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:5902233400446233400446CT2:g.233400446C>TClinGen:CA2168430CN239246 Congenital Myasthenic Syndrome, Dominant/Recessive;
NM_000751.3(CHRND):c.*623_*627dup1144CHRNDUncertain significancers886055785RCV000290271|RCV000395209; NMedGen:CN239246|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233400643233400644AACAATC2:g.233400643_233400644insCAATCClinGen:CA10614827CN239246 Congenital Myasthenic Syndrome, Dominant/Recessive;
NM_000751.3(CHRND):c.*1025A>G1144CHRNDBenign/Likely benignrs115132742RCV000266518|RCV000321601|RCV001141286|RCV001141287; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN239246|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233401047233401047AG2:g.233401047A>GClinGen:CA2168450CN239246 Congenital Myasthenic Syndrome, Dominant/Recessive;
NM_000751.3(CHRND):c.*365C>A-1CHRND;CHRNGConflicting interpretations of pathogenicity-1RCV001141184|RCV001141185; NMONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233400387233400387CA2:g.233400387C>A-
NM_000751.3(CHRND):c.*547G>C-1CHRND;CHRNGBenign/Likely benignrs2343841RCV000290760|RCV000378903|RCV001094645|RCV001138285; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN239246|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:5902233400569233400569GC2:g.233400569G>CClinGen:CA2168435CN239246 Congenital Myasthenic Syndrome, Dominant/Recessive;
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr)-1CHRND;CHRNGBenign/Likely benignrs2289080RCV000249476|RCV000271778|RCV000342579|RCV001094660; NMedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN239246|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233406178233406178GA2:g.233406178G>AClinGen:CA2168670,UniProtKB:P07510#VAR_030754CN239246 Congenital Myasthenic Syndrome, Dominant/Recessive;
NM_005199.5(CHRNG):c.5A>T (p.His2Leu)1146CHRNGUncertain significance-1RCV001136575|RCV001138814; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233404462233404462AT2:g.233404462A>T-
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)1146CHRNGLikely pathogenicrs267606725RCV000020002|RCV001257365; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|Human Phenotype Ontology:HP:0002650,Human Phenotype Ontology:HP:0002770,Human Phenotype Ontology:HP:0003303,Human Phenotype Ontology:HP:0003317,Human Phenotype Ontology:HP:0003415,MONDO:MONDO2233404470233404470CT2:g.233404470C>TClinGen:CA128047,OMIM:100730.0001C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.57G>C (p.Gly19=)1146CHRNGUncertain significancers753421728RCV000349383|RCV001094655; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233404703233404703GC2:g.233404703G>CClinGen:CA2168489
NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys)1146CHRNGUncertain significance-1RCV001138815|RCV001138816; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233404728233404728CT2:g.233404728C>T-
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)1146CHRNGConflicting interpretations of pathogenicityrs148468628RCV000420882|RCV001138817|RCV001138818; NMedGen:CN517202|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233404771233404771GA2:g.233404771G>AClinGen:CA2168508
NM_005199.5(CHRNG):c.129C>T (p.Pro43=)1146CHRNGConflicting interpretations of pathogenicityrs151276788RCV000300315|RCV000876796|RCV001094656; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN517202|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233404775233404775CT2:g.233404775C>TClinGen:CA2168510
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)1146CHRNGUncertain significancers186589083RCV000481365|RCV001141396|RCV001141397; NMedGen:CN517202|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233404776233404776GA2:g.233404776G>AClinGen:CA2168512CN169374 not specified;
NM_005199.5(CHRNG):c.132G>A (p.Ala44=)1146CHRNGConflicting interpretations of pathogenicity-1RCV001141398|RCV001141399; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233404778233404778GA2:g.233404778G>A-
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)1146CHRNGPathogenicrs121912672RCV000020009; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233404782233404782CT2:g.233404782C>TClinGen:CA128053,OMIM:100730.0006C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr)1146CHRNGUncertain significance-1RCV001141400|RCV001141401; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233404813233404813AC2:g.233404813A>C-
NM_005199.5(CHRNG):c.195+14C>T1146CHRNGConflicting interpretations of pathogenicity-1RCV001141402|RCV001143244; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233404855233404855CT2:g.233404855C>T-
NM_005199.5(CHRNG):c.196-9C>T1146CHRNGUncertain significancers182635953RCV000305721|RCV001094747; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233405082233405082CT2:g.233405082C>TClinGen:CA2168549
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)1146CHRNGPathogenic/Likely pathogenicrs764266722RCV000660641|RCV001257366; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990; MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|Human Phenotype Ontology:HP:0002650,Human Phenotype Ontology:HP:0002770,Human Phenotype Ontology:HP:0003303,Human Phenotype Onto2233405097233405097CT2:g.233405097C>T-
NM_005199.5(CHRNG):c.234A>T (p.Ile78=)1146CHRNGUncertain significance-1RCV001143245|RCV001143246; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233405129233405129AT2:g.233405129A>T-
NM_005199.5(CHRNG):c.239T>C (p.Met80Thr)1146CHRNGUncertain significance-1RCV001143247|RCV001143248; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233405134233405134TC2:g.233405134T>C-
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)1146CHRNGPathogenicrs1574643342RCV001007829; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233405312233405312CT2:g.233405312C>T-
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn)1146CHRNGUncertain significancers771588131RCV000498798|RCV001136676; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233405321233405321GA2:g.233405321G>AClinGen:CA2168585C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup)1146CHRNGPathogenicrs863223313RCV000020005; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233405370233405371TTGAGGGTGCC2:g.233405370_233405371insGAGGGTGCCClinGen:CA278896,OMIM:100730.0003C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)1146CHRNGPathogenicrs267606726RCV000020007|RCV000020008; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233405391233405391TG2:g.233405391T>GClinGen:CA128052,UniProtKB:P07510#VAR_030753,OMIM:100730.0005C1854678 253290 Lethal multiple pterygium syndrome;
NM_005199.5(CHRNG):c.330G>A (p.Pro110=)1146CHRNGUncertain significancers149931943RCV000596166|RCV001136677|RCV001136678; NMedGen:CN517202|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233405401233405401GA2:g.233405401G>AClinGen:CA2168609CN169374 not specified;
NM_005199.5(CHRNG):c.357C>T (p.Asp119=)1146CHRNGUncertain significancers749995118RCV000265832|RCV001094610; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233406090233406090CT2:g.233406090C>TClinGen:CA2168642
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys)1146CHRNGUncertain significancers199937736RCV000302205|RCV001094611; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233406100233406100GA2:g.233406100G>AClinGen:CA2168646
NM_005199.5(CHRNG):c.394G>A (p.Val132Met)1146CHRNGUncertain significance-1RCV001136679|RCV001138912; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233406127233406127GA2:g.233406127G>A-
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)1146CHRNGPathogenicrs747067203RCV000486079|RCV000498334|RCV001266730; NMedGen:CN517202|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MeSH:D030342,MedGen:C09501232233406134233406135CCTC2:g.233406134_233406135delClinGen:CA2168652C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.426G>A (p.Pro142=)1146CHRNGUncertain significance-1RCV001138913|RCV001138914; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233406159233406159GA2:g.233406159G>A-
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg)1146CHRNGPathogenicrs765746795RCV000201797; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233406161233406161CG2:g.233406161C>GClinGen:CA210351,OMIM:100730.0009C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.440G>T (p.Arg147Leu)1146CHRNGUncertain significance-1RCV001138915|RCV001138916; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233406173233406173GT2:g.233406173G>T-
NM_005199.5(CHRNG):c.459dup (p.Val154fs)1146CHRNGPathogenicrs774279192RCV000522117|RCV000778599|RCV000853328; NMedGen:CN517202||MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233406191233406192CCA2:g.233406191_233406192insAClinGen:CA2168671
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile)1146CHRNGUncertain significancers756232748RCV000275954|RCV001094713; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233406193233406193GA2:g.233406193G>AClinGen:CA2168672
NM_005199.5(CHRNG):c.471C>T (p.Phe157=)1146CHRNGConflicting interpretations of pathogenicityrs143272752RCV000254481|RCV000331018|RCV000874618|RCV001094714; NMedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN517202|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233406204233406204CT2:g.233406204C>TClinGen:CA2168674C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.474C>T (p.Pro158=)1146CHRNGUncertain significancers145907618RCV000281764|RCV001094715; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233406207233406207CT2:g.233406207C>TClinGen:CA10614839
NM_005199.5(CHRNG):c.507-13C>T1146CHRNGBenign/Likely benignrs2853462RCV000179451|RCV000278143|RCV001094716; NMedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233407120233407120CT2:g.233407120C>TClinGen:CA203300C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.507-12G>A1146CHRNGUncertain significance-1RCV001141514|RCV001143343; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233407121233407121GA2:g.233407121G>A-
NM_005199.5(CHRNG):c.543G>A (p.Gln181=)1146CHRNGConflicting interpretations of pathogenicityrs753990044RCV000248311|RCV000342468|RCV000887327; NMedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN5172022233407169233407169GA2:g.233407169G>AClinGen:CA2168712C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.573G>A (p.Glu191=)1146CHRNGUncertain significance-1RCV001143344|RCV001143345; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233407199233407199GA2:g.233407199G>A-
NM_005199.5(CHRNG):c.663G>A (p.Ala221=)1146CHRNGConflicting interpretations of pathogenicityrs150556220RCV000297688|RCV001143346|RCV001143347; NMedGen:CN517202|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233407650233407650GA2:g.233407650G>AClinGen:CA2168765CN169374 not specified;
NM_005199.5(CHRNG):c.708C>T (p.Leu236=)1146CHRNGUncertain significance-1RCV001143348|RCV001143349; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233407695233407695CT2:g.233407695C>T-
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)1146CHRNGPathogenic/Likely pathogenicrs121912670RCV000020003|RCV000020004; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233407702233407702CT2:g.233407702C>TClinGen:CA128049,UniProtKB:P07510#VAR_030755,OMIM:100730.0002C1854678 253290 Lethal multiple pterygium syndrome;
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn)1146CHRNGUncertain significancers139998228RCV000303213|RCV001094750; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233407724233407724TA2:g.233407724T>AClinGen:CA2168784
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)1146CHRNGPathogenicrs767503038RCV000020010|RCV000201795|RCV000282633|RCV000622703|RCV000778602; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|2233407740233407741CCTC2:g.233407740_233407741delClinGen:CA213183,OMIM:100730.0007
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)1146CHRNGConflicting interpretations of pathogenicityrs138125827RCV000179901|RCV000309135|RCV001094614; NMedGen:CN517202|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233407762233407762GA2:g.233407762G>AClinGen:CA247217C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.806-13C>T1146CHRNGUncertain significancers375760045RCV000269091|RCV001094615; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233407972233407972CT2:g.233407972C>TClinGen:CA2168814
NM_005199.5(CHRNG):c.913A>G (p.Ile305Val)1146CHRNGUncertain significancers142582718RCV000271462|RCV001136780|RCV001136781; NMedGen:CN517202|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233408092233408092AG2:g.233408092A>GClinGen:CA2168841CN169374 not specified;
NM_005199.5(CHRNG):c.921-68del1146CHRNGBenignrs10714586RCV000987057; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233408221233408221AGA2:g.233408221_233408221del-
NM_005199.5(CHRNG):c.921-12C>T1146CHRNGBenignrs13018423RCV000253291|RCV000314886|RCV001094616; NMedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233408283233408283CT2:g.233408283C>TClinGen:CA2168863C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)1146CHRNGUncertain significancers145830034RCV000275111|RCV001094663; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233408302233408302AT2:g.233408302A>TClinGen:CA2168866
NM_005199.5(CHRNG):c.951C>A (p.Ile317=)1146CHRNGConflicting interpretations of pathogenicityrs75369104RCV000180614|RCV000262321|RCV001094664; NMedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233408325233408325CA2:g.233408325C>AClinGen:CA203752C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys)1146CHRNGUncertain significancers554907332RCV000317542|RCV001094665; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233408404233408404CT2:g.233408404C>TClinGen:CA2168893
NM_005199.5(CHRNG):c.1036-8CT[2]1146CHRNGUncertain significancers3217418RCV000285412; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233409069233409070CCTC2:g.233409069_233409070delClinGen:CA2168922
NM_005199.5(CHRNG):c.1074C>T (p.His358=)1146CHRNGConflicting interpretations of pathogenicityrs761581720RCV000284054|RCV000922574|RCV001094666; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN517202|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409115233409115CT2:g.233409115C>TClinGen:CA2168928
NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile)1146CHRNGUncertain significance-1RCV001141627|RCV001141628; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409116233409116GA2:g.233409116G>A-
NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn)1146CHRNGUncertain significance-1RCV001141629|RCV001141630; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409146233409146GA2:g.233409146G>A-
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)1146CHRNGConflicting interpretations of pathogenicityrs145433186RCV000224861|RCV000509333|RCV001141631|RCV001141632; NMedGen:CN517202|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990; MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Or2233409156233409156CT2:g.233409156C>TClinGen:CA2168943
NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln)1146CHRNGUncertain significance-1RCV001141633|RCV001143445; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233409159233409159GA2:g.233409159G>A-
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)1146CHRNGPathogenic-1RCV001196621; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233409184233409184GA2:g.233409184G>A-
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu)1146CHRNGUncertain significance-1RCV001143446|RCV001143447; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409186233409186CT2:g.233409186C>T-
NM_005199.5(CHRNG):c.1178T>C (p.Leu393Pro)1146CHRNGUncertain significance-1RCV001143448|RCV001143449; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409219233409219TC2:g.233409219T>C-
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp)1146CHRNGUncertain significancers760473901RCV000346068|RCV001094754; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409254233409254CT2:g.233409254C>TClinGen:CA2168970
NM_005199.5(CHRNG):c.1227G>A (p.Val409=)1146CHRNGUncertain significance-1RCV001136881|RCV001143450; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233409268233409268GA2:g.233409268G>A-
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=)1146CHRNGUncertain significancers144948513RCV000287460|RCV001094620; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409271233409271GA2:g.233409271G>AClinGen:CA2168976
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu)1146CHRNGUncertain significancers146674765RCV000311936|RCV001094621; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409491233409491CT2:g.233409491C>TClinGen:CA2169009
NM_005199.5(CHRNG):c.1364_1365AG[1] (p.His457fs)1146CHRNGLikely pathogenicrs1309599304RCV000984924; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233409596233409597CAGC2:g.233409596_233409597del-
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp)1146CHRNGUncertain significancers138232636RCV000369005|RCV001094622; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233409610233409610AG2:g.233409610A>GClinGen:CA2169032
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg)1146CHRNGConflicting interpretations of pathogenicityrs143800157RCV000301272|RCV000382886|RCV001094623; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN169374|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410253233410253GA2:g.233410253G>AClinGen:CA2169054C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter)1146CHRNGPathogenicrs121912671RCV000020006; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233410280233410280CT2:g.233410280C>TClinGen:CA128050,OMIM:100730.0004C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=)1146CHRNGBenignrs2099489RCV000174339|RCV000261523|RCV001094669; NMedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410294233410294CT2:g.233410294C>TClinGen:CA200945C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile)1146CHRNGUncertain significancers764228635RCV000264568|RCV001094670; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410295233410295GA2:g.233410295G>AClinGen:CA2169063
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser)1146CHRNGConflicting interpretations of pathogenicityrs71421651RCV000224968|RCV000252106|RCV000322027|RCV001094671; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410388233410388CT2:g.233410388C>TClinGen:CA2169080C0265261 265000 Multiple pterygium syndrome Escobar type;
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys)1146CHRNGUncertain significancers762066089RCV000291669|RCV001094672; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410400233410400CT2:g.233410400C>TClinGen:CA2169082
NM_005199.5(CHRNG):c.*7C>T1146CHRNGUncertain significance-1RCV001141736|RCV001141737; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233410433233410433CT2:g.233410433C>T-
NM_005199.5(CHRNG):c.*69T>G1146CHRNGUncertain significance-1RCV001141738|RCV001141739; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410495233410495TG2:g.233410495T>G-
NM_005199.5(CHRNG):c.*77T>C1146CHRNGBenign/Likely benignrs11690038RCV000295406|RCV001094721; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410503233410503TC2:g.233410503T>CClinGen:CA10614596
NM_005199.5(CHRNG):c.*126C>T1146CHRNGUncertain significancers369614677RCV000352602|RCV001094722; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410552233410552CT2:g.233410552C>TClinGen:CA10613138
NM_005199.5(CHRNG):c.*131C>T1146CHRNGUncertain significancers566877095RCV000293589|RCV001094758; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410557233410557CT2:g.233410557C>TClinGen:CA10612788
NM_005199.5(CHRNG):c.*181T>C1146CHRNGUncertain significance-1RCV001143553|RCV001143554; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410607233410607TC2:g.233410607T>C-
NM_005199.5(CHRNG):c.*194G>A1146CHRNGUncertain significance-1RCV001143555|RCV001143556; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410620233410620GA2:g.233410620G>A-
NM_005199.5(CHRNG):c.*201G>C1146CHRNGUncertain significance-1RCV001136980|RCV001143557; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410627233410627GC2:g.233410627G>C-
NM_005199.5(CHRNG):c.*207T>C1146CHRNGUncertain significance-1RCV001136981|RCV001136982; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233410633233410633TC2:g.233410633T>C-
NM_005199.5(CHRNG):c.*291C>G1146CHRNGUncertain significance-1RCV001136983|RCV001136984; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233410717233410717CG2:g.233410717C>G-
NM_005199.5(CHRNG):c.*351G>A1146CHRNGUncertain significance-1RCV001136985|RCV001136986; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233410777233410777GA2:g.233410777G>A-
NM_005199.5(CHRNG):c.*388G>C1146CHRNGUncertain significance-1RCV001136987|RCV001139243; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410814233410814GC2:g.233410814G>C-
NM_005199.5(CHRNG):c.*477C>A1146CHRNGBenign/Likely benignrs59295139RCV000296899|RCV001094675; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410903233410903CA2:g.233410903C>AClinGen:CA10614850
NM_005199.5(CHRNG):c.*496A>G1146CHRNGBenignrs72991937RCV000335465|RCV001094676; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410922233410922AG2:g.233410922A>GClinGen:CA10614851
NM_005199.5(CHRNG):c.*508T>C1146CHRNGUncertain significancers886055787RCV000305174|RCV001094677; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410934233410934TC2:g.233410934T>CClinGen:CA10613139
NM_005199.5(CHRNG):c.*568C>T1146CHRNGBenignrs72991939RCV000265522|RCV001094678; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082233410994233410994CT2:g.233410994C>TClinGen:CA10614856
NM_005199.5(CHRNG):c.*589_*590dup1146CHRNGUncertain significancers1553578775RCV000269175; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233411014233411015TTCC2:g.233411014_233411015insCCClinGen:CA10613141
NM_005199.5(CHRNG):c.*591_*592insTT1146CHRNGUncertain significancers1553578776RCV000326616; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233411016233411017CCTT2:g.233411016_233411017insTTClinGen:CA10613142
NM_005199.5(CHRNG):c.*592_*598del1146CHRNGLikely benignrs199761478RCV000277404; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233411017233411023CTCTTTTTC2:g.233411017_233411023delClinGen:CA10613143
NM_005199.5(CHRNG):c.*609_*612dup1146CHRNGUncertain significancers57021172RCV000334974; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233411018233411019CCTTTT2:g.233411018_233411019insTTTTClinGen:CA10614606
NM_005199.5(CHRNG):c.*611_*612dup1146CHRNGUncertain significancers57021172RCV000282230; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:294060, Orphanet:29902233411018233411019CCTT2:g.233411018_233411019insTTClinGen:CA10614608
NM_005199.5(CHRNG):c.*592C>T1146CHRNGUncertain significance-1RCV001141862|RCV001141863; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233411018233411018CT2:g.233411018C>T-
NM_005199.5(CHRNG):c.*593T>C1146CHRNGUncertain significance-1RCV001141864|RCV001141865; NMONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:29902233411019233411019TC2:g.233411019T>C-
NM_000751.3(CHRND):c.*52A>G-1CHRNG;CHRNDBenign/Likely benignrs2767RCV000277975|RCV000319987|RCV001094741|RCV001138183; NMONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MedGen:CN239246|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:5902233400074233400074AG2:g.233400074A>GClinGen:CA2168396
NM_000751.3(CHRND):c.*885T>C-1CHRNG;CHRNDBenign/Likely benignrs1004175RCV000261184|RCV000329395|RCV001094652|RCV001138705; NMedGen:CN239246|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000, Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:33108|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:5902233400907233400907TC2:g.233400907T>CClinGen:CA2168447CN239246 Congenital Myasthenic Syndrome, Dominant/Recessive;
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