MSeqDR Mitochondrial Disease Portal


 
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Craniofacial Abnormalities (D019465)
Parent Node:
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Lymphangiectasis, Intestinal (D008201)
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Lymphedema (D008209)
..Starting node
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Hennekam lymphangiectasia lymphedema syndrome (C537255)

       Child Nodes:



 Sister Nodes: 
..expandAagenaes syndrome (C535330)
..expandBreast Cancer Lymphedema (D000072656)
..expandCHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
..expandDahlberg Borer Newcomer syndrome (C535769)
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandElephantiasis (D004604)
..expandElephantiasis, Filarial (D004605)
..expandGerman Syndrome (C562543)
..expandHennekam lymphangiectasia lymphedema syndrome (C537255)
..expandHypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..expandHYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
..expandIrons Bhan syndrome (C535539)
..expandLYMPHATIC MALFORMATION 3 (OMIM:613480)
..expandLYMPHATIC MALFORMATION 4 (OMIM:615907)
..expandLYMPHATIC MALFORMATION 6 (OMIM:616843)
..expandLymphedema and Cerebral Arteriovenous Anomaly (C563612)
..expandLymphedema distichiasis syndrome (C537710)
..expandLymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..expandLymphedema, Congenital Recessive (C565432)
..expandLymphedema, Hereditary, IB (C567452)
..expandLymphedema, Hereditary, II (C562467)
..expandLymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..expandLYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
..expandLymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..expandNon-Filarial Lymphedema (D062846)
..expandWaldmann disease (C536567)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5538
Name:Hennekam lymphangiectasia lymphedema syndrome
Definition:
Alternative IDs:DO:DOID:0060366|OMIM:235510|OMIM:616006
ParentIDs:MESH:D008201|MESH:D008209|MESH:D019465
TreeNumbers:C05.660.207/C537255 |C15.604.360.500/C537255 |C15.604.451.500/C537255 |C15.604.496/C537255 |C16.131.482.500/C537255 |C16.131.621.207/C537255
Synonyms:Hennekam Lymphangiectasia-Lymphedema Syndrome |HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 |HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 |HKLLS1 |HKLLS2 |Lymphangiectasies and lymphedema Hennekam type |Lymphatic Dysplasia, Generalized
Slim Mappings:Congenital abnormality|Lymphatic disease|Musculoskeletal disease
Reference: MedGen: C537255
MeSH: C537255
OMIM: 235510;
MSeqDR LSDB:  
Genes: ABCA1; APOA1; CCBE1; FAT4;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001631Atrial septal defect
3 HP:0007598Bilateral single transverse palmar creases
4 HP:0000337Broad forehead
5 HP:0012385Camptodactyly
6 HP:0000405Conductive hearing impairment
7 HP:0011065Conical incisor
8 HP:0004440Coronal craniosynostosis
9 HP:0000028Cryptorchidism
10 HP:0010554Cutaneous finger syndactyly
11 HP:0000684Delayed eruption of teeth
12 HP:0002750Delayed skeletal maturation
13 HP:0005280Depressed nasal bridge
14 HP:0000086Ectopic kidney
15 HP:0000286Epicanthus
16 HP:0001055Erysipelas
17 HP:0012368Flat face
18 HP:0000212Gingival overgrowth
19 HP:0000501Glaucoma
20 HP:0001007Hirsutism
21 HP:0000085Horseshoe kidney
22 HP:0000126Hydronephrosis
23 HP:0000752Hyperactivity
24 HP:0000316Hypertelorism
25 HP:0003073Hypoalbuminemia
26 HP:0002866Hypoplastic iliac wing
27 HP:0001249Intellectual disability
28 HP:0002593Intestinal lymphangiectasia
29 HP:0009473Joint contracture of the hand
30 HP:0000369Low-set ears
31 HP:0001004Lymphedema
32 HP:0000272Malar flattening
33 HP:0001530Mild postnatal growth retardation
34 HP:0000160Narrow mouth
35 HP:0000189Narrow palate
36 HP:0000677Oligodontia
37 HP:0001302Pachygyria
38 HP:0000767Pectus excavatum
39 HP:0001698Pericardial effusion
40 HP:0005183Pericardial lymphangiectasia
41 HP:0100539Periorbital edema
42 HP:0002202Pleural effusion
43 HP:0006531Pleural lymphangiectasia
44 HP:0002243Protein-losing enteropathy
45 HP:0002035Rectal prolapse
46 HP:0000278Retrognathia
47 HP:0002650Scoliosis
48 HP:0001250Seizures
NAMDC:  Seizures
49 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
50 HP:0001773Short foot
51 HP:0004279Short palm
52 HP:0200055Small hand
53 HP:0000319Smooth philtrum
54 HP:0003298Spina bifida occulta
55 HP:0001762Talipes equinovarus
56 HP:0008229Thyroid lymphangiectasia
57 HP:0001537Umbilical hernia
58 HP:0001629Ventricular septal defect
59 HP:0000076Vesicoureteral reflux
60 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_133459.4(CCBE1):c.*4956A>C147372CCBE1Uncertain significancers886054039RCV000308653; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709818457098184TG18:g.57098184T>GClinGen:CA10647987
NM_133459.4(CCBE1):c.*4945C>A147372CCBE1Benignrs1129748RCV000344647; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709819557098195GT18:g.57098195G>TClinGen:CA10647989
NM_133459.4(CCBE1):c.*4940A>T147372CCBE1Uncertain significancers374031151RCV000404513; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709820057098200TA18:g.57098200T>AClinGen:CA10641933
NM_133459.4(CCBE1):c.*4934G>T147372CCBE1Likely benign-1RCV001124337; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709820657098206CA18:g.57098206C>A-
NM_133459.4(CCBE1):c.*4877C>G147372CCBE1Uncertain significance-1RCV001124338; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709826357098263GC18:g.57098263G>C-
NM_133459.4(CCBE1):c.*4846G>A147372CCBE1Benignrs141622451RCV000305007; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709829457098294CT18:g.57098294C>TClinGen:CA10641934
NM_133459.4(CCBE1):c.*4818G>A147372CCBE1Uncertain significance-1RCV001124339; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709832257098322CT18:g.57098322C>T-
NM_133459.4(CCBE1):c.*4799G>A147372CCBE1Uncertain significancers187448235RCV000362083; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709834157098341CT18:g.57098341C>TClinGen:CA10651216
NM_133459.4(CCBE1):c.*4796G>A147372CCBE1Benignrs1048008RCV000303821; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709834457098344CT18:g.57098344C>TClinGen:CA10647990
NM_133459.4(CCBE1):c.*4796G>C147372CCBE1Uncertain significancers1048008RCV000265093; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709834457098344CG18:g.57098344C>GClinGen:CA10651219
NM_133459.4(CCBE1):c.*4788T>C147372CCBE1Benignrs77728352RCV000356254; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709835257098352AG18:g.57098352A>GClinGen:CA10651228
NM_133459.4(CCBE1):c.*4773C>G147372CCBE1Uncertain significancers192810490RCV000263801; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709836757098367GC18:g.57098367G>CClinGen:CA10652004
NM_133459.4(CCBE1):c.*4755A>C147372CCBE1Uncertain significance-1RCV001126995; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709838557098385TG18:g.57098385T>G-
NM_133459.4(CCBE1):c.*4749C>T147372CCBE1Benignrs1048006RCV000316287; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709839157098391GA18:g.57098391G>AClinGen:CA10652006
NM_133459.4(CCBE1):c.*4738G>A147372CCBE1Uncertain significance-1RCV001127416; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709840257098402CT18:g.57098402C>T-
NM_133459.4(CCBE1):c.*4715T>G147372CCBE1Uncertain significancers570883624RCV000373281; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709842557098425AC18:g.57098425A>CClinGen:CA10647991
NM_133459.4(CCBE1):c.*4710G>A147372CCBE1Uncertain significance-1RCV001127417; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709843057098430CT18:g.57098430C>T-
NM_133459.4(CCBE1):c.*4550_*4552AAT[1]147372CCBE1Uncertain significancers553910582RCV000276403; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709858557098587CATTC18:g.57098585_57098587delClinGen:CA10641938
NM_133459.4(CCBE1):c.*4525T>C147372CCBE1Uncertain significance-1RCV001127418; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709861557098615AG18:g.57098615A>G-
NM_133459.4(CCBE1):c.*4504G>C147372CCBE1Benignrs7230906RCV000333766; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709863657098636CG18:g.57098636C>GClinGen:CA10651230
NM_133459.4(CCBE1):c.*4498T>C147372CCBE1Likely benignrs146222689RCV000386049; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709864257098642AG18:g.57098642A>GClinGen:CA10651231
NM_133459.4(CCBE1):c.*4426del147372CCBE1Benignrs66482821RCV000294089; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709871457098714TGT18:g.57098714_57098714delClinGen:CA10652008
NM_133459.4(CCBE1):c.*4398C>A147372CCBE1Benignrs6567083RCV000346711; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709874257098742GT18:g.57098742G>TClinGen:CA10647993
NM_133459.4(CCBE1):c.*4375T>C147372CCBE1Uncertain significancers776172092RCV000384973; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709876557098765AG18:g.57098765A>GClinGen:CA10651234
NM_133459.4(CCBE1):c.*4282G>A147372CCBE1Uncertain significance-1RCV001123339; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709885857098858CT18:g.57098858C>T-
NM_133459.4(CCBE1):c.*4246C>G147372CCBE1Uncertain significancers886054040RCV000287708; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709889457098894GC18:g.57098894G>CClinGen:CA10651237
NM_133459.4(CCBE1):c.*4215A>T147372CCBE1Uncertain significance-1RCV001123340; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709892557098925TA18:g.57098925T>A-
NM_133459.4(CCBE1):c.*4180A>G147372CCBE1Benignrs556156318RCV000344984; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709896057098960TC18:g.57098960T>CClinGen:CA10641939
NM_133459.4(CCBE1):c.*4173A>G147372CCBE1Uncertain significance-1RCV001123341; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709896757098967TC18:g.57098967T>C-
NM_133459.4(CCBE1):c.*3931G>A147372CCBE1Likely benign-1RCV001123342; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709920957099209CT18:g.57099209C>T-
NM_133459.4(CCBE1):c.*3922T>A147372CCBE1Uncertain significance-1RCV001124426; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709921857099218AT18:g.57099218A>T-
NM_133459.4(CCBE1):c.*3893C>T147372CCBE1Uncertain significancers192002000RCV000392313; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709924757099247GA18:g.57099247G>AClinGen:CA10641940C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*3883G>T147372CCBE1Uncertain significancers886054041RCV000305273; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709925757099257CA18:g.57099257C>AClinGen:CA10651238C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*3862G>A147372CCBE1Uncertain significance-1RCV001124427; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709927857099278CT18:g.57099278C>T-
NM_133459.4(CCBE1):c.*3853C>T147372CCBE1Likely benign-1RCV001124428; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709928757099287GA18:g.57099287G>A-
NM_133459.4(CCBE1):c.*3809C>T147372CCBE1Uncertain significance-1RCV001124429; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709933157099331GA18:g.57099331G>A-
NM_133459.4(CCBE1):c.*3805T>C147372CCBE1Benignrs4940462RCV000339027; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709933557099335AG18:g.57099335A>GClinGen:CA10652014C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*3801G>A147372CCBE1Uncertain significance-1RCV001125434; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709933957099339CT18:g.57099339C>T-
NM_133459.4(CCBE1):c.*3800G>A147372CCBE1Uncertain significance-1RCV001125435; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709934057099340CT18:g.57099340C>T-
NM_133459.4(CCBE1):c.*3788T>A147372CCBE1Uncertain significancers886054042RCV000392306; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709935257099352AT18:g.57099352A>TClinGen:CA10651242C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*3784_*3787del147372CCBE1Uncertain significancers886054043RCV000299307; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709935357099356ATTTTA18:g.57099353_57099356delClinGen:CA10652016
NM_133459.4(CCBE1):c.*3780A>T147372CCBE1Benignrs12957684RCV000356439; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709936057099360TA18:g.57099360T>AClinGen:CA10651243
NM_133459.4(CCBE1):c.*3777A>T147372CCBE1Benign-1RCV001125436; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709936357099363TA18:g.57099363T>A-
NM_133459.4(CCBE1):c.*3710A>G147372CCBE1Likely benignrs371219962RCV000259659; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709943057099430TC18:g.57099430T>CClinGen:CA10652022
NM_133459.4(CCBE1):c.*3704C>A147372CCBE1Uncertain significance-1RCV001125437; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709943657099436GT18:g.57099436G>T-
NM_133459.4(CCBE1):c.*3703G>A147372CCBE1Uncertain significancers886054044RCV000298486; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709943757099437CT18:g.57099437C>TClinGen:CA10641942
NM_133459.4(CCBE1):c.*3668_*3676del147372CCBE1Uncertain significancers886054045RCV000369625; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709946457099472GATTACAGGCG18:g.57099464_57099472delClinGen:CA10641943
NM_133459.4(CCBE1):c.*3623A>C147372CCBE1Uncertain significancers886054046RCV000277186; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709951757099517TG18:g.57099517T>GClinGen:CA10641944
NM_133459.4(CCBE1):c.*3533C>A147372CCBE1Benignrs112059725RCV000330161; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709960757099607GT18:g.57099607G>TClinGen:CA10647994
NM_133459.4(CCBE1):c.*3475G>C147372CCBE1Benignrs17769805RCV000386978; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709966557099665CG18:g.57099665C>GClinGen:CA10641946
NM_133459.4(CCBE1):c.*3430T>C147372CCBE1Uncertain significance-1RCV001127541; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709971057099710AG18:g.57099710A>G-
NM_133459.4(CCBE1):c.*3257A>G147372CCBE1Uncertain significancers548992924RCV000271448; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709988357099883TC18:g.57099883T>CClinGen:CA10641951
NM_133459.4(CCBE1):c.*3239G>C147372CCBE1Uncertain significance-1RCV001127542; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709990157099901CG18:g.57099901C>G-
NM_133459.4(CCBE1):c.*3231G>A147372CCBE1Uncertain significance-1RCV001127543; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709990957099909CT18:g.57099909C>T-
NM_133459.4(CCBE1):c.*3182T>G147372CCBE1Likely benign-1RCV001127544; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709995857099958AC18:g.57099958A>C-
NM_133459.4(CCBE1):c.*3162T>C147372CCBE1Benignrs78990130RCV000328881; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709997857099978AG18:g.57099978A>GClinGen:CA10647995
NM_133459.4(CCBE1):c.*3147T>C147372CCBE1Uncertain significance-1RCV001123424; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709999357099993AG18:g.57099993A>G-
NM_133459.4(CCBE1):c.*3143T>C147372CCBE1Uncertain significancers886054047RCV000382518; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185709999757099997AG18:g.57099997A>GClinGen:CA10641954
NM_133459.4(CCBE1):c.*3140G>T147372CCBE1Uncertain significancers189149568RCV000285709; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710000057100000CA18:g.57100000C>AClinGen:CA10651246
NM_133459.4(CCBE1):c.*3080A>G147372CCBE1Likely benignrs147056520RCV000324504; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710006057100060TC18:g.57100060T>CClinGen:CA10647996
NM_133459.4(CCBE1):c.*3036C>G147372CCBE1Benignrs75031007RCV000376710; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710010457100104GC18:g.57100104G>CClinGen:CA10641957
NM_133459.4(CCBE1):c.*2978T>A147372CCBE1Benignrs117999156RCV000284661; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710016257100162AT18:g.57100162A>TClinGen:CA10647997
NM_133459.4(CCBE1):c.*2951_*2952dup147372CCBE1Likely benignrs11424706RCV000392818; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710018757100188GGTT18:g.57100187_57100188insTTClinGen:CA10647999
NM_133459.4(CCBE1):c.*2952dup147372CCBE1Benignrs11424706RCV000337383; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710018757100188GGT18:g.57100187_57100188insTClinGen:CA10648000
NM_133459.4(CCBE1):c.*2953C>A147372CCBE1Uncertain significance-1RCV001123425; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710018757100187GT18:g.57100187G>T-
NM_133459.4(CCBE1):c.*2951_*2952insC147372CCBE1Uncertain significancers33911880RCV000278320; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710018857100189TTG18:g.57100188_57100189insGClinGen:CA10651247
NM_133459.4(CCBE1):c.*2912G>T147372CCBE1Uncertain significancers559362654RCV000335683; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710022857100228CA18:g.57100228C>AClinGen:CA10651253
NM_133459.4(CCBE1):c.*2903G>C147372CCBE1Uncertain significancers181044048RCV000393562; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710023757100237CG18:g.57100237C>GClinGen:CA10651254
NM_133459.4(CCBE1):c.*2901T>A147372CCBE1Uncertain significancers151072136RCV000314580; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710023957100239AT18:g.57100239A>TClinGen:CA10652023
NM_133459.4(CCBE1):c.*2891G>A147372CCBE1Uncertain significancers886054048RCV000366938; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710024957100249CT18:g.57100249C>TClinGen:CA10641958
NM_133459.4(CCBE1):c.*2833C>A147372CCBE1Benignrs73450357RCV000390689; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710030757100307GT18:g.57100307G>TClinGen:CA10648001
NM_133459.4(CCBE1):c.*2825A>G147372CCBE1Benignrs116611266RCV000308572; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710031557100315TC18:g.57100315T>CClinGen:CA10651257
NM_133459.4(CCBE1):c.*2810A>G147372CCBE1Uncertain significancers886054049RCV000365692; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710033057100330TC18:g.57100330T>CClinGen:CA10652024
NM_133459.4(CCBE1):c.*2787T>C147372CCBE1Benignrs538634534RCV000268775; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710035357100353AG18:g.57100353A>GClinGen:CA10641959
NM_133459.4(CCBE1):c.*2771A>G147372CCBE1Uncertain significancers886054050RCV000327092; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710036957100369TC18:g.57100369T>CClinGen:CA10648002
NM_133459.4(CCBE1):c.*2758C>T147372CCBE1Benignrs114107592RCV000360900; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710038257100382GA18:g.57100382G>AClinGen:CA10651261
NM_133459.4(CCBE1):c.*2730A>G147372CCBE1Benignrs1975499RCV000268369; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710041057100410TC18:g.57100410T>CClinGen:CA10651264
NM_133459.4(CCBE1):c.*2728A>G147372CCBE1Uncertain significance-1RCV001125529; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710041257100412TC18:g.57100412T>C-
NM_133459.4(CCBE1):c.*2673G>A147372CCBE1Benignrs115205666RCV000321136; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710046757100467CT18:g.57100467C>TClinGen:CA10652026
NM_133459.4(CCBE1):c.*2639del147372CCBE1Uncertain significancers886054051RCV000378347; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710050157100501TAT18:g.57100501_57100501delClinGen:CA10651265
NM_133459.4(CCBE1):c.*2638del147372CCBE1Benignrs5825337RCV000281552; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710050257100502ATA18:g.57100502_57100502delClinGen:CA10641962
NM_133459.4(CCBE1):c.*2635A>G147372CCBE1Uncertain significance-1RCV001125530; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710050557100505TC18:g.57100505T>C-
NM_133459.4(CCBE1):c.*2460T>C147372CCBE1Likely benignrs76216795RCV000320052; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710068057100680AG18:g.57100680A>GClinGen:CA10641964
NM_133459.4(CCBE1):c.*2411C>T147372CCBE1Uncertain significance-1RCV001125531; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710072957100729GA18:g.57100729G>A-
NM_133459.4(CCBE1):c.*2389C>G147372CCBE1Uncertain significance-1RCV001125532; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710075157100751GC18:g.57100751G>C-
NM_133459.4(CCBE1):c.*2373C>T147372CCBE1Uncertain significancers530647353RCV000372484; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710076757100767GA18:g.57100767G>AClinGen:CA10651266
NM_133459.4(CCBE1):c.*2372C>T147372CCBE1Benignrs9959080RCV000279837; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710076857100768GA18:g.57100768G>AClinGen:CA10652028
NM_133459.4(CCBE1):c.*2361G>A147372CCBE1Benignrs9959752RCV000351152; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710077957100779CT18:g.57100779C>TClinGen:CA10651269
NM_133459.4(CCBE1):c.*2340T>C147372CCBE1Uncertain significance-1RCV001127628; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710080057100800AG18:g.57100800A>G-
NM_133459.4(CCBE1):c.*2298dup147372CCBE1Benignrs35448271RCV000399859; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710084157100842AAT18:g.57100841_57100842insTClinGen:CA10641969
NM_133459.4(CCBE1):c.*2299T>A147372CCBE1Uncertain significancers886054052RCV000350137; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710084157100841AT18:g.57100841A>TClinGen:CA10648004
NM_133459.4(CCBE1):c.*2297_*2298dup147372CCBE1Uncertain significancers35448271RCV000292835; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710084157100842AATT18:g.57100841_57100842insTTClinGen:CA10652029
NM_133459.4(CCBE1):c.*2297_*2298insT147372CCBE1Uncertain significancers886054053RCV000406883; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710084257100843TTA18:g.57100842_57100843insAClinGen:CA10651270
NM_133459.4(CCBE1):c.*2242T>C147372CCBE1Benignrs9948686RCV000310658; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710089857100898AG18:g.57100898A>GClinGen:CA10651271
NM_133459.4(CCBE1):c.*2227G>A147372CCBE1Benignrs9959855RCV000362987; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710091357100913CT18:g.57100913C>TClinGen:CA10641972C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*2210T>C147372CCBE1Uncertain significancers886054054RCV000404409; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710093057100930AG18:g.57100930A>GClinGen:CA10648005C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*2178C>T147372CCBE1Likely benignrs535062443RCV000305348; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710096257100962GA18:g.57100962G>AClinGen:CA10648008C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*2158C>T147372CCBE1Likely benignrs376015917RCV000357667; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710098257100982GA18:g.57100982G>AClinGen:CA10641976C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*2143G>A147372CCBE1Uncertain significancers557473811RCV000265373; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710099757100997CT18:g.57100997C>TClinGen:CA10648009
NM_133459.4(CCBE1):c.*2121C>T147372CCBE1Uncertain significance-1RCV001123531; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710101957101019GA18:g.57101019G>A-
NM_133459.4(CCBE1):c.*2080C>T147372CCBE1Uncertain significancers181336531RCV000317968; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710106057101060GA18:g.57101060G>AClinGen:CA10652032
NM_133459.4(CCBE1):c.*2058G>A147372CCBE1Uncertain significancers886054055RCV000356372; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710108257101082CT18:g.57101082C>TClinGen:CA10648010
NM_133459.4(CCBE1):c.*2051C>A147372CCBE1Uncertain significancers886054056RCV000259281; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710108957101089GT18:g.57101089G>TClinGen:CA10652036
NM_133459.4(CCBE1):c.*2023G>C147372CCBE1Uncertain significancers540232421RCV000316906; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710111757101117CG18:g.57101117C>GClinGen:CA10648012
NM_133459.4(CCBE1):c.*2020C>T147372CCBE1Benignrs113599524RCV000388073; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710112057101120GA18:g.57101120G>AClinGen:CA10648013
NM_133459.4(CCBE1):c.*2015_*2017dup147372CCBE1Uncertain significancers886054057RCV000277256; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710112257101123CCCTT18:g.57101122_57101123insCTTClinGen:CA10641979
NM_133459.4(CCBE1):c.*2017G>A147372CCBE1Uncertain significancers886054058RCV000329950; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710112357101123CT18:g.57101123C>TClinGen:CA10648014
NM_133459.4(CCBE1):c.*2014_*2016dup147372CCBE1Uncertain significancers373652074RCV000290301; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710112357101124CCTTT18:g.57101123_57101124insTTTClinGen:CA10652038
NM_133459.4(CCBE1):c.*2013_*2016del147372CCBE1Benignrs373652074RCV000386751; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710112457101127CTTTTC18:g.57101124_57101127delClinGen:CA10651272
NM_133459.4(CCBE1):c.*1991_*1994del147372CCBE1Uncertain significancers886054060RCV000347636; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710114657101149TTTTAT18:g.57101146_57101149delClinGen:CA10648017
NM_133459.4(CCBE1):c.*1992A>T147372CCBE1Uncertain significancers61687734RCV000381139; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710114857101148TA18:g.57101148T>AClinGen:CA10652040
NM_133459.4(CCBE1):c.*1969A>G147372CCBE1Benign-1RCV001124614; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710117157101171TC18:g.57101171T>C-
NM_133459.4(CCBE1):c.*1942T>C147372CCBE1Likely benignrs138525348RCV000289129; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710119857101198AG18:g.57101198A>GClinGen:CA10652043
NM_133459.4(CCBE1):c.*1933dup147372CCBE1Uncertain significancers886054061RCV000341872; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710120657101207TTC18:g.57101206_57101207insCClinGen:CA10648018
NM_133459.4(CCBE1):c.*1933del147372CCBE1Uncertain significancers886054061RCV000391175; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710120757101207TCT18:g.57101207_57101207delClinGen:CA10641981
NM_133459.4(CCBE1):c.*1861C>T147372CCBE1Uncertain significance-1RCV001125623; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710127957101279GA18:g.57101279G>A-
NM_133459.4(CCBE1):c.*1771G>A147372CCBE1Uncertain significancers886054063RCV000302213; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710136957101369CT18:g.57101369C>TClinGen:CA10652044
NM_133459.4(CCBE1):c.*1737C>T147372CCBE1Uncertain significancers553357543RCV000340775; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710140357101403GA18:g.57101403G>AClinGen:CA10652048
NM_133459.4(CCBE1):c.*1725G>A147372CCBE1Uncertain significancers886054064RCV000391121; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710141557101415CT18:g.57101415C>TClinGen:CA10651276
NM_133459.4(CCBE1):c.*1724C>T147372CCBE1Uncertain significance-1RCV001125624; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710141657101416GA18:g.57101416G>A-
NM_133459.4(CCBE1):c.*1697G>C147372CCBE1Benignrs59131196RCV000297228; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710144357101443CG18:g.57101443C>GClinGen:CA10648019
NM_133459.4(CCBE1):c.*1655T>A147372CCBE1Uncertain significancers187649543RCV000356695; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710148557101485AT18:g.57101485A>TClinGen:CA10651277
NM_133459.4(CCBE1):c.*1628T>A147372CCBE1Uncertain significancers886054065RCV000261902; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710151257101512AT18:g.57101512A>TClinGen:CA10651282
NM_133459.4(CCBE1):c.*1489G>T147372CCBE1Uncertain significance-1RCV001127710; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710165157101651CA18:g.57101651C>A-
NM_133459.4(CCBE1):c.*1463del147372CCBE1Uncertain significancers763605982RCV000312309; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710167757101677GAG18:g.57101677_57101677delClinGen:CA10651283
NM_133459.4(CCBE1):c.*1434C>G147372CCBE1Likely benignrs144479124RCV000367018; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710170657101706GC18:g.57101706G>CClinGen:CA10652056
NM_133459.4(CCBE1):c.*1421C>A147372CCBE1Uncertain significancers770614078RCV000277158; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710171957101719GT18:g.57101719G>TClinGen:CA10652062
NM_133459.4(CCBE1):c.*1401G>C147372CCBE1Uncertain significance-1RCV001127711; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710173957101739CG18:g.57101739C>G-
NM_133459.4(CCBE1):c.*1347C>T147372CCBE1Uncertain significancers182559343RCV000332153; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710179357101793GA18:g.57101793G>AClinGen:CA10651284
NM_133459.4(CCBE1):c.*1346G>A147372CCBE1Uncertain significancers370722132RCV000381890; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710179457101794CT18:g.57101794C>TClinGen:CA10651285
NM_133459.4(CCBE1):c.*1258C>G147372CCBE1Benignrs571761684RCV000268708; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710188257101882GC18:g.57101882G>CClinGen:CA10648024
NM_133459.4(CCBE1):c.*1257T>C147372CCBE1Uncertain significance-1RCV001127712; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710188357101883AG18:g.57101883A>G-
NM_133459.4(CCBE1):c.*1251G>A147372CCBE1Uncertain significancers886054066RCV000328499; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710188957101889CT18:g.57101889C>TClinGen:CA10641982
NM_133459.4(CCBE1):c.*1190C>T147372CCBE1Uncertain significance-1RCV001123626; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710195057101950GA18:g.57101950G>A-
NM_133459.4(CCBE1):c.*1161dup147372CCBE1Uncertain significancers886054067RCV000383119; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710197857101979AAT18:g.57101978_57101979insTClinGen:CA10641986
NM_133459.4(CCBE1):c.*1040C>T147372CCBE1Benignrs78905013RCV000283721; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710210057102100GA18:g.57102100G>AClinGen:CA10641987
NM_133459.4(CCBE1):c.*1021T>A147372CCBE1Uncertain significance-1RCV001123627; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710211957102119AT18:g.57102119A>T-
NM_133459.4(CCBE1):c.*942C>T147372CCBE1Uncertain significancers148435558RCV000343370; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710219857102198GA18:g.57102198G>AClinGen:CA10641989
NM_133459.4(CCBE1):c.*938G>T147372CCBE1Uncertain significance-1RCV001123628; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710220257102202CA18:g.57102202C>A-
NM_133459.4(CCBE1):c.*836C>T147372CCBE1Uncertain significancers575906287RCV000379262; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710230457102304GA18:g.57102304G>AClinGen:CA10641991
NM_133459.4(CCBE1):c.*835T>A147372CCBE1Uncertain significancers542982078RCV000280143; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710230557102305AT18:g.57102305A>TClinGen:CA10641995
NM_133459.4(CCBE1):c.*814T>G147372CCBE1Benignrs9954602RCV000335385; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710232657102326AC18:g.57102326A>CClinGen:CA10641997
NM_133459.4(CCBE1):c.*803C>G147372CCBE1Uncertain significancers755405287RCV000401060; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710233757102337GC18:g.57102337G>CClinGen:CA10642007
NM_133459.4(CCBE1):c.*781A>T147372CCBE1Uncertain significance-1RCV001124699; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710235957102359TA18:g.57102359T>A-
NM_133459.4(CCBE1):c.*752T>C147372CCBE1Uncertain significancers886054068RCV000300339; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710238857102388AG18:g.57102388A>GClinGen:CA10648026
NM_133459.4(CCBE1):c.*739A>T147372CCBE1Uncertain significancers886054069RCV000350525; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710240157102401TA18:g.57102401T>AClinGen:CA10648028
NM_133459.4(CCBE1):c.*645T>C147372CCBE1Uncertain significancers886054070RCV000392891; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710249557102495AG18:g.57102495A>GClinGen:CA10651286
NM_133459.4(CCBE1):c.*616A>G147372CCBE1Benignrs532612240RCV000315061; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710252457102524TC18:g.57102524T>CClinGen:CA10651288
NM_133459.4(CCBE1):c.*610G>A147372CCBE1Uncertain significancers551011131RCV000369761; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710253057102530CT18:g.57102530C>TClinGen:CA10642008
NM_133459.4(CCBE1):c.*519dup147372CCBE1Likely benignrs35018840RCV000270873; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710262057102621GGA18:g.57102620_57102621insAClinGen:CA10651289
NM_133459.4(CCBE1):c.*504T>C147372CCBE1Uncertain significance-1RCV001125705; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710263657102636AG18:g.57102636A>G-
NM_133459.4(CCBE1):c.*378G>A147372CCBE1Likely benignrs141921214RCV000307234; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710276257102762CT18:g.57102762C>TClinGen:CA10652064C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*337T>G147372CCBE1Likely benignrs80296667RCV000366524; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710280357102803AC18:g.57102803A>CClinGen:CA10648036C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*306_*307insAAAT147372CCBE1Uncertain significancers886054071RCV000271896; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710283357102834GGATTT18:g.57102833_57102834insATTTClinGen:CA10648038C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*267del147372CCBE1Uncertain significancers561328038RCV000322308; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710287357102873TAT18:g.57102873_57102873delClinGen:CA10651290C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.*261T>C147372CCBE1Uncertain significancers886054072RCV000357745; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710287957102879AG18:g.57102879A>GClinGen:CA10651291
NM_133459.4(CCBE1):c.*203A>G147372CCBE1Uncertain significance-1RCV001125706; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710293757102937TC18:g.57102937T>C-
NM_133459.4(CCBE1):c.*194A>G147372CCBE1Uncertain significancers886054073RCV000267638; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710294657102946TC18:g.57102946T>CClinGen:CA10648039
NM_133459.4(CCBE1):c.*182C>A147372CCBE1Uncertain significance-1RCV001125707; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710295857102958GT18:g.57102958G>T-
NM_133459.4(CCBE1):c.*160A>G147372CCBE1Uncertain significancers770290457RCV000322862; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710298057102980TC18:g.57102980T>CClinGen:CA10648041
NM_133459.4(CCBE1):c.*154G>A147372CCBE1Benignrs73963210RCV000372804; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710298657102986CT18:g.57102986C>TClinGen:CA10652066
NM_133459.4(CCBE1):c.*146C>T147372CCBE1Uncertain significancers886054074RCV000278063; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710299457102994GA18:g.57102994G>AClinGen:CA10652072
NM_133459.4(CCBE1):c.*126G>A147372CCBE1Uncertain significance-1RCV001127803; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710301457103014CT18:g.57103014C>T-
NM_133459.4(CCBE1):c.*70A>G147372CCBE1Uncertain significancers771950874RCV000319130; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710307057103070TC18:g.57103070T>CClinGen:CA10648044
NM_133459.4(CCBE1):c.*20G>A147372CCBE1Uncertain significance-1RCV001127804; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710312057103120CT18:g.57103120C>T-
NM_133459.4(CCBE1):c.*19C>T147372CCBE1Uncertain significancers376780422RCV000373831; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710312157103121GA18:g.57103121G>AClinGen:CA8980139
NM_133459.4(CCBE1):c.*14C>T147372CCBE1Benignrs72958116RCV000252232|RCV000293472; NMedGen:CN169374|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710312657103126GA18:g.57103126G>AClinGen:CA8980146
NM_133459.4(CCBE1):c.1157G>C (p.Gly386Ala)147372CCBE1Uncertain significancers766519876RCV000348655; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710320457103204CG18:g.57103204C>GClinGen:CA8980162
NM_133459.4(CCBE1):c.1148T>C (p.Leu383Pro)147372CCBE1Uncertain significance-1RCV001127805; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710321357103213AG18:g.57103213A>G-
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln)147372CCBE1Uncertain significance-1RCV001127806; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710328257103282CT18:g.57103282C>T-
NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr)147372CCBE1Uncertain significance-1RCV001122028; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710329757103297TG18:g.57103297T>G-
NM_133459.4(CCBE1):c.1058A>G (p.Gln353Arg)147372CCBE1Uncertain significancers192224843RCV000389991; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710330357103303TC18:g.57103303T>CClinGen:CA8980187
NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly)147372CCBE1Uncertain significance-1RCV001122029; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710330957103309TC18:g.57103309T>C-
NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys)147372CCBE1Uncertain significance-1RCV001122030; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710332557103325GA18:g.57103325G>A-
NM_133459.4(CCBE1):c.1017A>G (p.Leu339=)147372CCBE1Conflicting interpretations of pathogenicityrs765502530RCV000893721|RCV001122031; NMedGen:CN517202|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710334457103344TC18:g.57103344T>C-
NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu)147372CCBE1Uncertain significance-1RCV001122032; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710335857103358AG18:g.57103358A>G-
NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala)147372CCBE1Uncertain significance-1RCV001122033; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710336157103361AC18:g.57103361A>C-
NM_133459.4(CCBE1):c.988-10A>G147372CCBE1Benignrs115490148RCV000249814|RCV000294791|RCV000969702; NMedGen:CN169374|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136|MedGen:CN517202185710338357103383TC18:g.57103383T>CClinGen:CA8980210C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg)147372CCBE1Pathogenicrs121908252RCV000000476; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710535157105351CG18:g.57105351C>GClinGen:CA278005,UniProtKB:Q6UXH8#VAR_063750,UniProtKB/Swiss-Prot:VAR_063750,OMIM:612753.0003C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)147372CCBE1Conflicting interpretations of pathogenicityrs144169027RCV001001166; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710536457105364CT18:g.57105364C>T-
NM_133459.4(CCBE1):c.916-2A>G147372CCBE1Uncertain significancers367990953RCV000778538|RCV001192528; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136|MedGen:CN169374185710681257106812TC18:g.57106812T>C-
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln)147372CCBE1Uncertain significance-1RCV001124794; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710692257106922CT18:g.57106922C>T-
NM_133459.4(CCBE1):c.869C>T (p.Pro290Leu)147372CCBE1Uncertain significance-1RCV001124795; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710695557106955GA18:g.57106955G>A-
NM_133459.4(CCBE1):c.853A>G (p.Met285Val)147372CCBE1Uncertain significance-1RCV001124796; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710697157106971TC18:g.57106971T>C-
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)147372CCBE1Conflicting interpretations of pathogenicityrs191592668RCV000911133|RCV001124797; NMedGen:CN517202|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710698157106981TA18:g.57106981T>A-
NM_133459.4(CCBE1):c.837C>T (p.Pro279=)147372CCBE1Benignrs61745250RCV000244858|RCV000345081; NMedGen:CN169374|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710698757106987GA18:g.57106987G>AClinGen:CA8980318C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.810C>T (p.Pro270=)147372CCBE1Uncertain significance-1RCV001124798; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185710701457107014GA18:g.57107014G>A-
NM_133459.4(CCBE1):c.775+12A>G147372CCBE1Benignrs1893788RCV000253276|RCV000406768; NMedGen:CN169374|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185711520357115203TC18:g.57115203T>CClinGen:CA8980345C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.733C>G (p.Leu245Val)147372CCBE1Uncertain significance-1RCV001125785; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185711525757115257GC18:g.57115257G>C-
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs)147372CCBE1Pathogenicrs563023244RCV000000477; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185711530657115307GGA18:g.57115306_57115307insAClinGen:CA278006,OMIM:612753.0004
NM_133459.4(CCBE1):c.671A>G (p.Asn224Ser)147372CCBE1Uncertain significance-1RCV001125786; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185711531957115319TC18:g.57115319T>C-
NM_133459.4(CCBE1):c.669C>A (p.Pro223=)147372CCBE1Uncertain significancers886054075RCV000310187; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185711532157115321GT18:g.57115321G>TClinGen:CA10642013
NM_133459.4(CCBE1):c.654+10G>A147372CCBE1Uncertain significancers199573616RCV000364971; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185712207357122073CT18:g.57122073C>TClinGen:CA8980391
NM_133459.4(CCBE1):c.654+5G>A147372CCBE1Conflicting interpretations of pathogenicityrs150596993RCV000607279|RCV001125787; NMedGen:CN169374|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185712207857122078CT18:g.57122078C>TClinGen:CA8980395CN169374 not specified;
NM_133459.4(CCBE1):c.557A>G (p.His186Arg)147372CCBE1Likely benign-1RCV001125788; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185712218057122180TC18:g.57122180T>C-
NM_133459.4(CCBE1):c.552T>C (p.Thr184=)147372CCBE1Uncertain significance-1RCV001125789; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713397257133972AG18:g.57133972A>G-
NM_133459.4(CCBE1):c.545A>T (p.Asn182Ile)147372CCBE1Uncertain significance-1RCV001127891; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713397957133979TA18:g.57133979T>A-
NM_133459.4(CCBE1):c.541C>T (p.Pro181Ser)147372CCBE1Likely benignrs116596858RCV000406776; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713398357133983GA18:g.57133983G>AClinGen:CA8980466
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg)147372CCBE1Pathogenicrs121908254RCV000000479; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713400457134004AG18:g.57134004A>GClinGen:CA278008,UniProtKB:Q6UXH8#VAR_063749,UniProtKB/Swiss-Prot:VAR_063749,OMIM:612753.0006C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.519A>G (p.Thr173=)147372CCBE1Conflicting interpretations of pathogenicityrs141327514RCV000940379|RCV001127892; NMedGen:CN517202|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713400557134005TC18:g.57134005T>C-
NM_133459.4(CCBE1):c.499C>T (p.Arg167Trp)147372CCBE1Benignrs116675104RCV000248240|RCV000913020|RCV001127893; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713402557134025GA18:g.57134025G>AClinGen:CA8980476CN169374 not specified;
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)147372CCBE1Uncertain significancers121908253RCV000000478|RCV000493564; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136|MedGen:CN517202185713405257134052GA18:g.57134052G>AClinGen:CA278007,UniProtKB:Q6UXH8#VAR_063748,UniProtKB/Swiss-Prot:VAR_063748,OMIM:612753.0005C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.460T>G (p.Leu154Val)147372CCBE1Uncertain significance-1RCV001127894; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713406457134064AC18:g.57134064A>C-
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met)147372CCBE1Conflicting interpretations of pathogenicityrs147974432RCV000305648|RCV000911840; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136|MedGen:CN517202185713409357134093GA18:g.57134093G>AClinGen:CA8980493
NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln)147372CCBE1Uncertain significance-1RCV001127895; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713672557136725CT18:g.57136725C>T-
NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp)147372CCBE1Uncertain significance-1RCV001127896; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713673257136732GA18:g.57136732G>A-
NM_133459.4(CCBE1):c.342T>C (p.Tyr114=)147372CCBE1Uncertain significance-1RCV001122138; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713676357136763AG18:g.57136763A>G-
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser)147372CCBE1Pathogenicrs121908251RCV000000475; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713680057136800CG18:g.57136800C>GOMIM:612753.0002,ClinGen:CA278004,UniProtKB:Q6UXH8#VAR_063747,UniProtKB/Swiss-Prot:VAR_063747C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly)147372CCBE1Uncertain significance-1RCV001122139; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713681857136818GC18:g.57136818G>C-
NM_133459.4(CCBE1):c.266-104C>T147372CCBE1Benignrs650033RCV000990113; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185713694357136943GA18:g.57136943G>A-
NM_133459.4(CCBE1):c.265+8A>C147372CCBE1Conflicting interpretations of pathogenicityrs181010692RCV000360423|RCV000890373; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136|MedGen:CN517202185714741057147410TG18:g.57147410T>GClinGen:CA8980577
NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln)147372CCBE1Uncertain significancers756973760RCV000767916; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185714742357147423GT18:g.57147423G>T-
NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser)147372CCBE1Uncertain significance-1RCV001122140; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185714742457147424GA18:g.57147424G>A-
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser)147372CCBE1Pathogenicrs121908250RCV000000474|RCV000434998; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136|MedGen:CN517202185714746057147460AT18:g.57147460A>TClinGen:CA278003,UniProtKB:Q6UXH8#VAR_063746,UniProtKB/Swiss-Prot:VAR_063746,OMIM:612753.0001C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_133459.4(CCBE1):c.195G>A (p.Glu65=)147372CCBE1Benign/Likely benignrs116673304RCV000955008|RCV001122141; NMedGen:CN517202|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185736387857363878CT18:g.57363878C>T-
NM_133459.4(CCBE1):c.171C>T (p.Tyr57=)147372CCBE1Uncertain significance-1RCV001122142; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185736390257363902GA18:g.57363902G>A-
NM_133459.4(CCBE1):c.156C>T (p.Ile52=)147372CCBE1Benignrs2288598RCV000260860|RCV000901990; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136|MedGen:CN517202185736391757363917GA18:g.57363917G>AClinGen:CA8980626
NM_133459.4(CCBE1):c.131+10G>A147372CCBE1Uncertain significance-1RCV001122143; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185736443457364434CT18:g.57364434C>T-
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu)147372CCBE1Benignrs80008675RCV000316049|RCV000419352; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136|MedGen:CN517202185736445257364452GT18:g.57364452G>TClinGen:CA8980654
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn)147372CCBE1Uncertain significance-1RCV001124909; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185736447457364474GT18:g.57364474G>T-
NM_133459.4(CCBE1):c.83C>T (p.Ala28Val)147372CCBE1Uncertain significance-1RCV001124910; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185736449257364492GA18:g.57364492G>A-
NM_133459.4(CCBE1):c.60G>C (p.Leu20=)147372CCBE1Uncertain significance-1RCV001124911; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185736451557364515CG18:g.57364515C>G-
NM_133459.4(CCBE1):c.-27G>T147372CCBE1Uncertain significance-1RCV001124912; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185736460157364601CA18:g.57364601C>A-
NM_133459.4(CCBE1):c.-30G>C147372CCBE1Uncertain significancers777317997RCV000356766; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:2136185736460457364604CG18:g.57364604C>GClinGen:CA10651292
NM_024582.4(FAT4):c.913A>T (p.Ile305Phe)79633FAT4Uncertain significancers1553958385RCV000626214; NMONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:21364126238479126238479AT4:g.126238479A>TClinGen:CA358116800C0340834 235510 Hennekam lymphangiectasia-lymphedema syndrome;
NM_024582.4(FAT4):c.13393G>A (p.Val4465Met)79633FAT4Uncertain significancers1215405311RCV000714817|RCV000714818; NMONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546, Orphanet:314679|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510, Orphanet:21364126411370126411370GA4:g.126411370G>A-
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