MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Craniosynostoses (D003398)
Parent Node:
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Ectodermal Dysplasia (D004476)
..Starting node
..expand
Cranioectodermal Dysplasia (C562966)

       Child Nodes:



 Sister Nodes: 
..expandAdams Oliver syndrome (C538225)
..expandAlves Castelo dos Santos syndrome (C536593)
..expandAnal sphincter dysplasia (C538254)
..expandAplasia cutis congenita intestinal lymphangiectasia (C537788)
..expandAplasia cutis congenita of limbs recessive (C536840)
..expandAplasia Cutis Congenita with Epibulbar Dermoids (C563969)
..expandAplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..expandAplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..expandAREDYLD Syndrome (C537427)
..expandArthrogryposis and ectodermal dysplasia (C537441)
..expandBasan syndrome (C537659)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
..expandBrunoni syndrome (C537408)
..expandCardiofaciocutaneous syndrome (C535579)
..expandCerebellar ataxia ectodermal dysplasia (C535350)
..expandCleft Lip with or without Cleft Palate, Nonsyndromic, 8 (C565070)
..expandCongenital ectodermal dysplasia with hearing loss (C535757)
..expandCONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
..expandContractures ectodermal dysplasia cleft lip palate (C535465)
..expandCranioectodermal Dysplasia (C562966) Child1
..expandDeafness with Anhidrotic Ectodermal Dysplasia (C565119)
..expandDermatoosteolysis Kirghizian type (C535373)
..expandEctodermal Dysplasia 1, Anhidrotic (D053358) Child1
..expandECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
..expandECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
..expandECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
..expandEctodermal Dysplasia 3, Anhidrotic (D053359)
..expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..expandECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
..expandECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
..expandEctodermal dysplasia adrenal cyst (C538015)
..expandEctodermal dysplasia alopecia preaxial polydactyly (C538016)
..expandEctodermal Dysplasia and Neurosensory Deafness (C565606)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandEctodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..expandEctodermal Dysplasia with Natal Teeth, Turnpenny Type (C563347)
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..expandEctodermal Dysplasia, Hidrotic, Autosomal Recessive (C566553)
..expandEctodermal dysplasia, hidrotic, Christianson-Fourie type (C536180)
..expandEctodermal Dysplasia, Hypohidrotic, Autosomal Recessive (D053360)
..expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
..expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEctodermal Dysplasia, Pure Hair-Nail Type (C566592)
..expandEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..expandEctodermal Dysplasia, Trichoodontoonychial Type (C565068)
..expandEctodermal Dysplasia-Skin Fragility Syndrome (C536183)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
..expandEctrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate (C565065)
..expandEctrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 (C565062)
..expandEctrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 (C565799)
..expandEctrodactyly-cleft lip-palate syndrome (C536189)
..expandEllis-Van Creveld Syndrome (D004613) Child6
..expandEpidermolysis bullosa with pyloric atresia (C535377)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial ectodermal dysplasia (C536385)
..expandFocal Dermal Hypoplasia (D005489) Child1
..expandFocal facial dermal dysplasia (C537068)
..expandFreire-Maia odontotrichomelic syndrome (C535637)
..expandHalal Setton Wang syndrome (C535621)
..expandHay Wells syndrome recessive type (C535846)
..expandHay-Wells syndrome (C535847)
..expandHyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic (C564542)
..expandJohanson Blizzard syndrome (C535880)
..expandJones Hersh Yusk syndrome (C535885)
..expandLadda Zonana Ramer syndrome (C538135)
..expandLelis Syndrome (C564261)
..expandLINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
..expandMadokoro Ohdo Sonoda syndrome (C537838)
..expandNaegeli syndrome (C538331)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNeurocutaneous Syndromes (D020752) Child42  LSDB C:1
..expandOdontomicronychial dysplasia (C537741)
..expandOdontoonychodermal dysplasia (C537742)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOrofacial Cleft 7 (C563464)
..expandPachyonychia Congenita (D053549) Child5
..expandPinheiro Freire-Maia Miranda syndrome (C537402)
..expandPropping Zerres syndrome (C538052)
..expandRapp-Hodgkin syndrome (C535289)
..expandRobinson Miller Bensimon syndrome (C535864)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSener syndrome (C537579)
..expandSeres-Santamaria Arimany Muniz syndrome (C537585)
..expandTaurodontia absent teeth sparse hair (C536945)
..expandTetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..expandTrichodental syndrome (C536551)
..expandTrichoodontoonychial Dysplasia (C564760)
..expandTrichoscyphodysplasia (C536557)
..expandTRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..expandTrueb Burg Bottani syndrome (C536565)
..expandYunis Varon syndrome (C536719)
..expandZlotogora-Ogur syndrome (C536726)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3121
Name:Cranioectodermal Dysplasia
Definition:
Alternative IDs:OMIM:218330|OMIM:613610|OMIM:614099|OMIM:614378
ParentIDs:MESH:D003398|MESH:D004476
TreeNumbers:C05.116.099.370.894.232/C562966 |C05.660.207.240/C562966 |C05.660.906.364/C562966 |C16.131.077.350/C562966 |C16.131.621.207.240/C562966 |C16.131.621.906.364/C562966 |C16.131.831.350/C562966 |C16.320.850.250/C562966 |C17.800.804.350/C562966 |C17.800.827.250/C56296
Synonyms:CED1 |CED2 |CED3 |CED4 |CRANIOECTODERMAL DYSPLASIA 1 |CRANIOECTODERMAL DYSPLASIA 2 |CRANIOECTODERMAL DYSPLASIA 3 |CRANIOECTODERMAL DYSPLASIA 4 |Levin Syndrome I |Sensenbrenner Syndrome
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease
Reference: MedGen: C562966
MeSH: C562966
OMIM: 218330;
MSeqDR LSDB:  
Genes: IFT122; IFT43; WDR19; WDR35;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0004298Abnormality of the abdominal wall
3 HP:0000674Anodontia
4 HP:0000463Anteverted nares
5 HP:0001647Bicuspid aortic valve
6 HP:0001156Brachydactyly
7 HP:0009880Broad distal phalanges of all fingers
8 HP:0001837Broad toe
9 HP:0012622Chronic kidney disease
10 HP:0030084Clinodactyly
11 HP:0000268Dolichocephaly
12 HP:0000968Ectodermal dysplasia
13 HP:0000286Epicanthus
14 HP:0000232Everted lower lip vermilion
15 HP:0003038Fibular hypoplasia
16 HP:0002213Fine hair
17 HP:0003071Flattened epiphysis
18 HP:0002007Frontal bossing
19 HP:0000293Full cheeks
20 HP:0001407Hepatic cysts
21 HP:0001399Hepatic failure
22 HP:0001395Hepatic fibrosis
23 HP:0002240Hepatomegaly
24 HP:0000218High palate
25 HP:0002705High, narrow palate
26 HP:0002901Hypocalcemia
27 HP:0000668Hypodontia
28 HP:0006297Hypoplasia of dental enamel
29 HP:0000601Hypotelorism
30 HP:0001388Joint laxity
31 HP:0006563Malformation of the hepatic ductal plate
32 HP:0000691Microdontia
33 HP:0000545Myopia
34 HP:0000774Narrow chest
35 HP:0000639Nystagmus
36 HP:0000939Osteoporosis
37 HP:0000767Pectus excavatum
38 HP:0001538Protuberant abdomen
39 HP:0009466Radial deviation of finger
40 HP:0005567Renal magnesium wasting
41 HP:0000556Retinal dystrophy
42 HP:0008905Rhizomelia
43 HP:0004442Sagittal craniosynostosis
44 HP:0030799Scaphocephaly
45 HP:0009882Short distal phalanx of finger
46 HP:0005792Short humerus
47 HP:0001799Short nail
48 HP:0000773Short ribs
49 HP:0001831Short toe
50 HP:0000954Single transverse palmar crease
51 HP:0002217Slow-growing hair
52 HP:0008070Sparse hair
53 HP:0000506Telecanthus
54 HP:0001816Thin nail
55 HP:0001970Tubulointerstitial nephritis
56 HP:0000431Wide nasal bridge
57 HP:0000687Widely spaced teeth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001280545.1(IFT122):c.-811C>A55764IFT122Benignrs148987764RCV000380131; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129158964129158964CA3:g.129158964C>AClinGen:CA10614833CN119432 Cranioectodermal dysplasia;
NM_001280545.1(IFT122):c.-807A>G55764IFT122Benignrs3138334RCV000278693; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129158968129158968AG3:g.129158968A>GClinGen:CA10617191
NM_001280545.1(IFT122):c.-746T>A55764IFT122Uncertain significance-1RCV001147118; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129159029129159029TA3:g.129159029T>A-
NM_052989.3(IFT122):c.-22C>A55764IFT122Uncertain significance-1RCV001148005; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129159152129159152CA3:g.129159152C>A-
NM_052989.3(IFT122):c.-3G>A55764IFT122Uncertain significancers367704478RCV000335929; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129159171129159171GA3:g.129159171G>AClinGen:CA2605656
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)55764IFT122Pathogenicrs267607193RCV000004901; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129159194129159194GC3:g.129159194G>CClinGen:CA340279,UniProtKB:Q9HBG6#VAR_063584,OMIM:606045.0004C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.41+15G>T55764IFT122Uncertain significancers36222038RCV000339201|RCV001148006; NMedGen:CN517202|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129159229129159229GT3:g.129159229G>TClinGen:CA2605658CN169374 not specified;
NM_052989.3(IFT122):c.54C>T (p.Ile18=)55764IFT122Uncertain significance-1RCV001148007; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129168726129168726CT3:g.129168726C>T-
NM_052989.3(IFT122):c.132C>G (p.Thr44=)55764IFT122Conflicting interpretations of pathogenicityrs371772807RCV000282096|RCV000964657; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:1515|MedGen:CN5172023129170780129170780CG3:g.129170780C>GClinGen:CA10614836
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)55764IFT122Likely pathogenic-1RCV001261959; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129170820129170820TC3:g.129170820T>C-
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser)55764IFT122Uncertain significancers181971625RCV000348801; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129177447129177447CA3:g.129177447C>AClinGen:CA2605742
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)55764IFT122Uncertain significancers144140226RCV000399027; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129177462129177462TG3:g.129177462T>GClinGen:CA2605748
NM_052989.3(IFT122):c.228C>T (p.Ser76=)55764IFT122Uncertain significancers772835552RCV000313770; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129177476129177476CT3:g.129177476C>TClinGen:CA2605751
NM_052989.3(IFT122):c.273-260T>C55764IFT122Uncertain significance-1RCV001149545; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129179811129179811TC3:g.129179811T>C-
NM_052989.3(IFT122):c.321A>G (p.Gln107=)55764IFT122Conflicting interpretations of pathogenicityrs138793724RCV000352191|RCV000729626|RCV000951867; NMONDO:MONDO:0009032,MedGen:CN119432,OMIM:PS218330, Orphanet:1515|MedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129180119129180119AG3:g.129180119A>GClinGen:CA2605834
NM_052989.3(IFT122):c.349+1G>A55764IFT122Likely pathogenicrs1559869525RCV000705197; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129180148129180148GA3:g.129180148G>A-
NM_052989.3(IFT122):c.349+5G>A55764IFT122Pathogenicrs376595844RCV000004900; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129180152129180152GA3:g.129180152G>AClinGen:CA340278,OMIM:606045.0003C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp)55764IFT122Uncertain significancers140547512RCV000401067; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129183536129183536CT3:g.129183536C>TClinGen:CA2605884
NM_052989.3(IFT122):c.531G>A (p.Ser177=)55764IFT122Likely benignrs150496357RCV000951963; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129183592129183592GA3:g.129183592G>A-
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer)55764IFT122Uncertain significancers781766922RCV000778674; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129183612129183612TGT3:g.129183612_129183612del-
NM_052989.3(IFT122):c.563+7T>C55764IFT122Likely benignrs371311619RCV000952242; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129183631129183631TC3:g.129183631T>C-
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)55764IFT122Conflicting interpretations of pathogenicityrs138329739RCV000705716; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129185734129185734CT3:g.129185734C>T-
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)55764IFT122Likely benignrs59912693RCV000399070|RCV000945510; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129185786129185786TC3:g.129185786T>CClinGen:CA2605932CN169374 not specified;
NM_052989.3(IFT122):c.618T>G (p.Ile206Met)55764IFT122Uncertain significancers1320096747RCV000808937; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129185787129185787TG3:g.129185787T>G-
NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup)55764IFT122Uncertain significance-1RCV001046490; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129185862129185863GGGAGGAAGAACCA3:g.129185862_129185863insGAGGAAGAACCA-
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser)55764IFT122Uncertain significance-1RCV001145256; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129188196129188196AG3:g.129188196A>G-
NM_052989.3(IFT122):c.783G>A (p.Gln261=)55764IFT122Conflicting interpretations of pathogenicityrs144727222RCV000955119|RCV001145257; NMedGen:CN517202|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129188227129188227GA3:g.129188227G>A-
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn)55764IFT122Benign/Likely benignrs117517364RCV000254384|RCV000946250; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195166129195166GT3:g.129195166G>TClinGen:CA2606008CN119432 Cranioectodermal dysplasia;
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)55764IFT122Uncertain significancers61744448RCV000272301; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195170129195170CT3:g.129195170C>TClinGen:CA2606009
NM_052989.3(IFT122):c.876C>T (p.Gly292=)55764IFT122Uncertain significance-1RCV001145258; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195217129195217CT3:g.129195217C>T-
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys)55764IFT122Uncertain significancers775510906RCV000792192; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195218129195218GA3:g.129195218G>A-
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln)55764IFT122Uncertain significancers376018883RCV000301619; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195279129195279GA3:g.129195279G>AClinGen:CA2606029
NM_052989.3(IFT122):c.955del (p.Glu319fs)55764IFT122Pathogenicrs397515567RCV000055971; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195293129195293TGT3:g.129195293_129195293delClinGen:CA345066,OMIM:606045.0005
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)55764IFT122Likely pathogenicrs267607192RCV000004899; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195306129195306CT3:g.129195306C>TClinGen:CA340276,OMIM:606045.0002C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.1009-14C>T55764IFT122Uncertain significancers202155515RCV000358875; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195492129195492CT3:g.129195492C>TClinGen:CA2606050
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)55764IFT122Conflicting interpretations of pathogenicityrs79187669RCV000251326|RCV000725440|RCV001086371; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195523129195523CT3:g.129195523C>TClinGen:CA2606058CN119432 Cranioectodermal dysplasia;
NM_052989.3(IFT122):c.1067A>C (p.His356Pro)55764IFT122Uncertain significancers1064796598RCV000481881|RCV001219618; NMedGen:CN517202|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195564129195564AC3:g.129195564A>CClinGen:CA16617825CN169374 not specified;
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)55764IFT122Benignrs150550701RCV000174413|RCV000878672; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195600129195600GA3:g.129195600G>AClinGen:CA200972CN119432 Cranioectodermal dysplasia;
NM_052989.3(IFT122):c.1113C>T (p.Asp371=)55764IFT122Benignrs139319087RCV000543337; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129195610129195610CT3:g.129195610C>TClinGen:CA2606069
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp)55764IFT122Uncertain significancers139079256RCV000371676; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129196861129196861CT3:g.129196861C>TClinGen:CA2606098
NM_052989.3(IFT122):c.1239G>A (p.Glu413=)55764IFT122Benignrs111717774RCV000878457; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129196950129196950GA3:g.129196950G>AClinGen:CA2606111
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)55764IFT122Uncertain significancers148626512RCV000637014; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129196963129196963GA3:g.129196963G>AClinGen:CA2606114C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)55764IFT122Benign/Likely benignrs61744639RCV000317731|RCV000514719|RCV001079816; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129196984129196984CT3:g.129196984C>TClinGen:CA2606118C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu)55764IFT122Uncertain significancers781181264RCV000319859; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129197005129197005AG3:g.129197005A>GClinGen:CA2606121
NM_052989.3(IFT122):c.1378A>T (p.Ser460Cys)55764IFT122Uncertain significance-1RCV001218177; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129198655129198655AT3:g.129198655A>T-
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)55764IFT122Uncertain significancers397515568RCV000055972|RCV000754963; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:1515|MONDO:MONDO:0009032,MedGen:CN119432,OMIM:PS218330, Orphanet:15153129198760129198760GA3:g.129198760G>AClinGen:CA345067,OMIM:606045.0006C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.1503C>T (p.Phe501=)55764IFT122Likely benignrs113871672RCV000637017; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129200387129200387CT3:g.129200387C>TClinGen:CA2606203C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)55764IFT122Pathogenicrs267607191RCV000004898; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129200389129200389TG3:g.129200389T>GClinGen:CA340274,OMIM:606045.0001C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.1533G>A (p.Leu511=)55764IFT122Benign/Likely benignrs183614690RCV000613265|RCV000960808; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129200417129200417GA3:g.129200417G>AClinGen:CA2606215
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)55764IFT122Uncertain significancers138223055RCV000294078; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129200437129200437GA3:g.129200437G>AClinGen:CA2606218
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr)55764IFT122Uncertain significance-1RCV001148107; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129200454129200454GA3:g.129200454G>A-
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys)55764IFT122Uncertain significance-1RCV001148108; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129200460129200460CT3:g.129200460C>T-
NM_052989.3(IFT122):c.1713G>T (p.Ser571=)55764IFT122Benign/Likely benignrs150174636RCV000389496|RCV000536035; NMONDO:MONDO:0009032,MedGen:CN119432,OMIM:PS218330, Orphanet:1515|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129202387129202387GT3:g.129202387G>TClinGen:CA2606273
NM_052989.3(IFT122):c.1758C>G (p.His586Gln)55764IFT122Uncertain significancers141889207RCV000288140; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129202432129202432CG3:g.129202432C>GClinGen:CA2606281
NM_052989.3(IFT122):c.1800C>T (p.Ser600=)55764IFT122Uncertain significancers886057965RCV000345424; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129202474129202474CT3:g.129202474C>TClinGen:CA10615271
NM_052989.3(IFT122):c.1851+5C>T55764IFT122Uncertain significancers375595062RCV000812294; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129202530129202530CT3:g.129202530C>T-
NM_052989.3(IFT122):c.1854C>T (p.Ser618=)55764IFT122Benignrs146874343RCV000878430; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129207102129207102CT3:g.129207102C>T-
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn)55764IFT122Uncertain significancers777051654RCV000397097; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129207132129207132AT3:g.129207132A>TClinGen:CA10617200
NM_052989.3(IFT122):c.1908T>C (p.Ile636=)55764IFT122Benign/Likely benignrs139722192RCV000192350|RCV000878458; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129207156129207156TC3:g.129207156T>CClinGen:CA205111CN169374 not specified;
NM_052989.3(IFT122):c.1940G>A (p.Arg647His)55764IFT122Uncertain significance-1RCV001149662; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129207188129207188GA3:g.129207188G>A-
NM_052989.3(IFT122):c.1993-8C>T55764IFT122Benign/Likely benignrs531091599RCV000193565|RCV000895989; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129210976129210976CT3:g.129210976C>TClinGen:CA207129CN119432 Cranioectodermal dysplasia;
NM_052989.3(IFT122):c.1993-7G>C55764IFT122Benignrs2285354RCV000175375|RCV000399437|RCV000614068; NMedGen:CN169374|MONDO:MONDO:0009032,MedGen:CN119432,OMIM:PS218330, Orphanet:1515|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129210977129210977GC3:g.129210977G>CClinGen:CA201430CN119432 Cranioectodermal dysplasia;
NM_052989.3(IFT122):c.1993-7G>A55764IFT122Likely benignrs2285354RCV000879511; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129210977129210977GA3:g.129210977G>A-
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln)55764IFT122Uncertain significancers140911243RCV000305047; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129211009129211009GA3:g.129211009G>AClinGen:CA2606379
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn)55764IFT122Uncertain significancers779236550RCV000362017; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129214297129214297GT3:g.129214297G>TClinGen:CA2606400
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys)55764IFT122Uncertain significance-1RCV001147297; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129214380129214380AG3:g.129214380A>G-
NM_052989.3(IFT122):c.2154C>T (p.His718=)55764IFT122Benignrs116819033RCV000637021; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129214396129214396CT3:g.129214396C>TClinGen:CA2606417
NM_052989.3(IFT122):c.2181C>T (p.Thr727=)55764IFT122Conflicting interpretations of pathogenicityrs545131069RCV000974010; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129214423129214423CT3:g.129214423C>TClinGen:CA2606430
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr)55764IFT122Benign/Likely benignrs146026277RCV000238824|RCV000945879; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129218830129218830AC3:g.129218830A>CClinGen:CA2606463CN169374 not specified;
NM_052989.3(IFT122):c.2302G>A (p.Val768Met)55764IFT122Uncertain significancers561825107RCV000809477; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129218838129218838GA3:g.129218838G>A-
NM_052989.3(IFT122):c.2304G>A (p.Val768=)55764IFT122Uncertain significancers886057966RCV000262763; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129218840129218840GA3:g.129218840G>AClinGen:CA10615272
NM_052989.3(IFT122):c.2349C>A (p.Ile783=)55764IFT122Benignrs114357746RCV000878459; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129218885129218885CA3:g.129218885C>A-
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn)55764IFT122Uncertain significance-1RCV001062757; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129221561129221561GA3:g.129221561G>A-
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr)55764IFT122Uncertain significance-1RCV001148212; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129221567129221567GA3:g.129221567G>A-
NM_052989.3(IFT122):c.2393G>A (p.Arg798His)55764IFT122Uncertain significance-1RCV001148213; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129221571129221571GA3:g.129221571G>A-
NM_052989.3(IFT122):c.2415C>T (p.Arg805=)55764IFT122Benign/Likely benignrs61744218RCV000637018; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129221593129221593CT3:g.129221593C>TClinGen:CA2606513
NM_052989.3(IFT122):c.2433C>T (p.Cys811=)55764IFT122Benign/Likely benignrs141626835RCV000945404; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129221611129221611CT3:g.129221611C>TClinGen:CA2606519
NM_052989.3(IFT122):c.2523C>T (p.His841=)55764IFT122Uncertain significance-1RCV001148214; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129221701129221701CT3:g.129221701C>T-
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln)55764IFT122Uncertain significance-1RCV001148215; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129223189129223189GC3:g.129223189G>C-
NM_052989.3(IFT122):c.2577G>A (p.Glu859=)55764IFT122Conflicting interpretations of pathogenicityrs201077232RCV000275833|RCV000894182; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:1515|MedGen:CN5172023129223191129223191GA3:g.129223191G>AClinGen:CA2606575
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr)55764IFT122Uncertain significance-1RCV001205580; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129223213129223213CA3:g.129223213C>A-
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu)55764IFT122Uncertain significancers147499719RCV000333296; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129223214129223214CT3:g.129223214C>TClinGen:CA2606580
NM_052989.3(IFT122):c.2628T>C (p.Asp876=)55764IFT122Likely benignrs750912015RCV000960136; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129223242129223242TC3:g.129223242T>C-
NM_052989.3(IFT122):c.2643C>T (p.Ala881=)55764IFT122Uncertain significance-1RCV001149766; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129223257129223257CT3:g.129223257C>T-
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val)55764IFT122Uncertain significancers376549217RCV000289480; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129225282129225282CT3:g.129225282C>TClinGen:CA2606619
NM_052989.3(IFT122):c.2682G>A (p.Ala894=)55764IFT122Benignrs61741773RCV000637019; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129225283129225283GA3:g.129225283G>AClinGen:CA2606620C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.2721G>A (p.Ala907=)55764IFT122Uncertain significancers371570973RCV000176430|RCV000328099; NMedGen:CN517202|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129225322129225322GA3:g.129225322G>AClinGen:CA242370CN119432 Cranioectodermal dysplasia;
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp)55764IFT122Conflicting interpretations of pathogenicityrs146818399RCV000194823|RCV000724440|RCV001086963; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129225350129225350TG3:g.129225350T>GClinGen:CA209252CN169374 not specified;
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys)55764IFT122Uncertain significance-1RCV001035866; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129225384129225384TA3:g.129225384T>A-
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp)55764IFT122Uncertain significance-1RCV001149767; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129226517129226517CA3:g.129226517C>A-
NM_052989.3(IFT122):c.2840G>A (p.Arg947His)55764IFT122Uncertain significancers760810819RCV000384913; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129226559129226559GA3:g.129226559G>AClinGen:CA2606675
NM_052989.3(IFT122):c.2881C>G (p.His961Asp)55764IFT122Uncertain significance-1RCV001149768; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129226600129226600CG3:g.129226600C>G-
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)55764IFT122Uncertain significance-1RCV001219619; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129233275129233275GC3:g.129233275G>COMIM:606045.0007
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn)55764IFT122Uncertain significance-1RCV001149769; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129233293129233293CA3:g.129233293C>A-
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys)55764IFT122Uncertain significance-1RCV001145443; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129233300129233300AG3:g.129233300A>G-
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal)55764IFT122Pathogenic-1RCV001263242; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129233320129233323TACAG3:g.129233321_129233323delOMIM:606045.0008
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His)55764IFT122Uncertain significancers576743578RCV000283458; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129233372129233372GA3:g.129233372G>AClinGen:CA2606787
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)55764IFT122Conflicting interpretations of pathogenicityrs76881473RCV000193036|RCV000878287; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129233373129233373CT3:g.129233373C>TClinGen:CA206264CN169374 not specified;
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val)55764IFT122Uncertain significancers147341636RCV000340857; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129233375129233375CT3:g.129233375C>TClinGen:CA2606791
NM_052989.3(IFT122):c.3154-9G>A55764IFT122Uncertain significancers759975764RCV000394659; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129234322129234322GA3:g.129234322G>AClinGen:CA2606825
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu)55764IFT122Uncertain significance-1RCV001145444; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129234371129234371CT3:g.129234371C>T-
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys)55764IFT122Uncertain significancers771499492RCV000778675; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129234409129234409CT3:g.129234409C>T-
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=)55764IFT122Uncertain significancers775568842RCV000286886; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129234429129234429CT3:g.129234429C>TClinGen:CA2606843
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys)55764IFT122Uncertain significancers774343448RCV000334995; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129234440129234440AG3:g.129234440A>GClinGen:CA2606846
NM_052989.3(IFT122):c.3265+7C>T55764IFT122Benignrs9836202RCV000637016; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129234449129234449CT3:g.129234449C>TClinGen:CA2606850
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met)55764IFT122Uncertain significancers147517019RCV000300840; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129236314129236314GA3:g.129236314G>AClinGen:CA2606872
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=)55764IFT122Benignrs111668739RCV000550756; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129236349129236349GT3:g.129236349G>TClinGen:CA2606876
NM_052989.3(IFT122):c.3391+6C>T55764IFT122Uncertain significance-1RCV001147388; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129236443129236443CT3:g.129236443C>T-
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro)55764IFT122Uncertain significance-1RCV001147389; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129237962129237962TC3:g.129237962T>C-
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)55764IFT122Benign/Likely benignrs149884307RCV000193866|RCV000878346; NMedGen:CN169374|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129237990129237990CT3:g.129237990C>TClinGen:CA207630CN119432 Cranioectodermal dysplasia;
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu)55764IFT122Uncertain significance-1RCV001147390; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129238004129238004CT3:g.129238004C>T-
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=)55764IFT122Benignrs150692598RCV000637015; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129238020129238020GA3:g.129238020G>AClinGen:CA2606926C0432235 218330 Cranioectodermal dysplasia 1;
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)55764IFT122Uncertain significancers200606803RCV000294633|RCV000794465; NMedGen:CN517202|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129238426129238426TA3:g.129238426T>AClinGen:CA2606945
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His)55764IFT122Likely benignrs149029829RCV000878416|RCV001252861; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:1515|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MedGen:C4553129238472129238472GA3:g.129238472G>AClinGen:CA2606960
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=)55764IFT122Uncertain significancers146778076RCV000269212; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129238509129238509GT3:g.129238509G>TClinGen:CA2606967
NM_052989.3(IFT122):c.3636+3A>G55764IFT122Uncertain significancers753825998RCV000326518; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129238578129238578AG3:g.129238578A>GClinGen:CA2606980
NM_052989.3(IFT122):c.3677A>G (p.His1226Arg)55764IFT122Uncertain significance-1RCV001059395; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129239059129239059AG3:g.129239059A>G-
NM_052989.3(IFT122):c.3697C>T (p.Arg1233Cys)55764IFT122Uncertain significance-1RCV001211987; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129239079129239079CT3:g.129239079C>T-
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His)55764IFT122Uncertain significance-1RCV001148315; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129239080129239080GA3:g.129239080G>A-
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=)55764IFT122Uncertain significance-1RCV001148316; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129239093129239093TC3:g.129239093T>C-
NM_052989.3(IFT122):c.*16C>T55764IFT122Uncertain significancers763993447RCV000364892; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129239124129239124CT3:g.129239124C>TClinGen:CA2607021
NM_052989.3(IFT122):c.*121G>T55764IFT122Uncertain significance-1RCV001148317; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129239229129239229GT3:g.129239229G>T-
NM_052989.3(IFT122):c.*142C>G55764IFT122Uncertain significance-1RCV001148318; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129239250129239250CG3:g.129239250C>G-
NM_052989.3(IFT122):c.*241C>G55764IFT122Uncertain significance-1RCV001149879; NMONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330, Orphanet:15153129239349129239349CG3:g.129239349C>G-
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