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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Cleidocranial Dysplasia (D002973)
Child Nodes:
........Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
........Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly (C566119)
........Cleidocranial Dysplasia, Recessive Form (C565843)
........Parietal Foramina With Cleidocranial Dysplasia (C566825)
........Yunis Varon syndrome (C536719)
Sister Nodes:
..Achondrogenesis (C579878)
..Achondroplasia (D000130) 21
..Acquired Hyperostosis Syndrome (D020083)
..Acrodysostosis (C538179)
..Acrodysplasia scoliosis (C538180)
..Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
..Acromesomelic dysplasia (C535658) 1
..Acromesomelic dysplasia Campailla-Martinelli type (C535659)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Akaba Hayasaka syndrome (C535609)
..Anauxetic dysplasia (C538256)
..Atelosteogenesis type 2 (C535395)
..Atelosteogenesis Type 3 (C579928)
..Atelosteogenesis, type 1 (C535396)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..Auriculoosteodysplasia (C538271)
..Boomerang dysplasia (C536573)
..Brachyolmia (C537098)
..Brachyolmia Type 2 (C563218)
..Brachyolmia Type 3 (C562963)
..Brachyolmia, recessive Hobaek type (C537099)
..Camurati-Engelmann Syndrome (D003966) 4
..Cantu syndrome (C535572)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Chondrodysplasia Calcificans Metaphysealis (C565855)
..Chondrodysplasia Punctata (D002806) 13
..Chondrodysplasia, blomstrand type (C537914)
..Chondrodysplasia, Grebe type (C537915)
..Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..Cleidocranial Dysplasia (D002973) 5
..Cleidorhizomelic syndrome (C536428)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..CODAS syndrome (C536434)
..Collagenopathy, type 2 alpha 1 (C535964)
..Coloboma of Alar-nasal cartilages with telecanthus (C535967)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Czech dysplasia, metatarsal type (C535766)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyschondrosteosis and Nephritis (C565080)
..Eiken Skeletal Dysplasia (C564010)
..Ellis-Van Creveld Syndrome (D004613) 6
..Enchondromatosis (D004687)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Epiphyseal Dysplasia, Baumann Type (C563664)
..Epiphyseal dysplasia, multiple, 1 (C535501)
..Epiphyseal dysplasia, multiple, 2 (C535502)
..Epiphyseal dysplasia, multiple, 3 (C535503)
..Epiphyseal dysplasia, multiple, 4 (C535504)
..Epiphyseal dysplasia, multiple, 5 (C535505)
..Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
..Fairbank disease (C536393)
..Faye-Petersen Ward Carey syndrome (C537076)
..Fibrous Dysplasia of Bone (D005357) 9
..Fraser Jequier Chen syndrome (C535481)
..Frontometaphyseal dysplasia (C538064)
..Frontootopalatodigital Osteodysplasia (C567578)
..Ghosal Hematodiaphyseal Dysplasia (C565551)
..HEM dysplasia (C535858) 1
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Hip Dysplasia, Beukes Type (C564185)
..Hyperostosis Frontalis Interna (D006957) 1
..Hyperostosis, Cortical, Congenital (D006958) 6
..Hypochondrogenesis (C563007)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Jansen type metaphyseal chondrodysplasia (C537564)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Kashin-Beck Disease (D057767)
..Kniest dysplasia (C537207)
..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..Kozlowski Tsuruta Taki syndrome (C537510)
..Langer mesomelic dysplasia (C537267)
..Langer-Giedion Syndrome (D015826) 2
..Laplane Fontaine Lagardere syndrome (C537869)
..Larsen Syndrome (C580241)
..Larsen syndrome, dominant type (C537873)
..Larsen-Like Syndrome (C563914)
..Leri-Weil syndrome (C537119)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Lowry Wood syndrome (C537038)
..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..Madelung Deformity (C562398)
..Marshall syndrome (C536025)
..Megaepiphyseal dwarfism (C536140) 1
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..Mesomelic Dysplasia, Savarirayan Type (C565349)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Metaphyseal chondrodysplasia Schmid type (C537352)
..Metaphyseal chondrodysplasia Spahr type (C537353)
..Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Metaphyseal Chondrodysplasia, Kaitila Type (C565400)
..Metaphyseal Chondrodysplasia, Pena Type (C565399)
..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..Metaphyseal Dysplasia without Hypotrichosis (C563574)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Metaphyseal Dysplasia, Braun-Tinschert Type (C565271)
..Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
..Metatropic dwarfism (C537356)
..Metatropic Dwarfism, Type II (C581628)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephaly-Micromelia Syndrome (C565382)
..Micromelic dwarfism Fryns type (C537556)
..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Nievergelt syndrome (C536120)
..Nivelon Nivelon Mabille syndrome (C536123)
..Omodysplasia 2 (C567664)
..Omodysplasia type 1 (C537746)
..Opsismodysplasia (C537122)
..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..Osteoarthritis with Mild Chondrodysplasia (C565740)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Osteochondroma (D015831) 17
..Osteodysplasia, Familial, Anderson Type (C564923)
..Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
..Osteogenesis Imperfecta (D010013) 27
..Osteoglophonic dwarfism (C536050)
..Osteosclerosis (D010026) 36
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..Pelvis-Shoulder Dysplasia (C566811)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..Polydysspondyly (C565150)
..Pubic Bone Dysplasia (C566735)
..Pycnodysostosis (D058631)
..Pyle disease (C536252)
..Roifman syndrome (C535866)
..Schaefer Stein Oshman syndrome (C536627)
..Schimke immunoosseous dysplasia (C536629)
..Schneckenbecken dysplasia (C536637)
..Short Rib-Polydactyly Syndrome (D012779) 3
..Short stature syndrome, Brussels type (C537121)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Slipped Capital Femoral Epiphyses (D060048)
..Smith-McCort Dysplasia (C564589)
..Spinal Dysplasia, Anhalt Type (C563348)
..Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
..Spondylodysplasia And Premature Pubarche (C567552)
..Spondyloenchondrodysplasia (C535782)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
..Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
..Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
..Spondyloepimetaphyseal dysplasia, sponastrime type (C535786)
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Spondyloepiphyseal dysplasia, congenita (C535788)
..Spondyloepiphyseal Dysplasia, Kimberley Type (C564252)
..SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Spondyloepiphyseal dysplasia, Omani type (C535789) 1
..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..Spondylometaphyseal dysplasia, Algerian type (C535794)
..Spondylometaphyseal dysplasia, axial (C535795)
..Spondylometaphyseal dysplasia, east-African type (C535796)
..Spondylometaphyseal dysplasia, Kozlowski type (C535797)
..Spondylometaphyseal dysplasia, Sedaghatian type (C535798)
..Spondylometaphyseal Dysplasia, Type A4 (C563803)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
..Spondyloperipheral dysplasia short ulna (C535799)
..Spondylospinal Thoracic Dysostosis (C566622)
..Strudwick syndrome (C537501)
..Stuve-Wiedemann syndrome (C537502)
..Teebi Naguib Al Awadi syndrome (C536949)
..Ter Haar syndrome (C537274)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thoracolaryngopelvic dysplasia (C536517)
..Tracheobronchopathia osteoplastica (C536977)
..Trichoscyphodysplasia (C536557)
..Ulna metaphyseal dysplasia syndrome (C536935)
..Upington disease (C536472)
..Van Buchem disease type 2 (C536527)
..Verloes Bourguignon syndrome (C536538)
..Verloes Van Maldergem Marneffe syndrome (C536540)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Wolcott-Rallison syndrome (C536739)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2434

Name:

Cleidocranial Dysplasia

Definition:

Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.

Alternative IDs:

OMIM:119600

ParentIDs:

MESH:D010009|MESH:D019465

TreeNumbers:

C05.116.099.708.207 |C05.660.207.207 |C16.131.621.207.207

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: D002973
MeSH: D002973
OMIM: 119600;

Genes: RUNX2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005259	Abnormal facility in opposing the shoulders
3	HP:0002688	Absent frontal sinuses
4	HP:0002689	Absent paranasal sinuses
5	HP:0006660	Aplastic clavicle
6	HP:0001156	Brachydactyly
7	HP:0000891	Cervical ribs
8	HP:0000175	Cleft palate
9	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
10	HP:0002812	Coxa vara
11	HP:0000696	Delayed eruption of permanent teeth
12	HP:0000680	Delayed eruption of primary teeth
13	HP:0008788	Delayed pubic bone ossification
14	HP:0005280	Depressed nasal bridge
15	HP:0006297	Enamel hypoplasia
16	HP:0002007	Frontal bossing
17	HP:0000365	Hearing impairment
18	HP:0002705	High, narrow palate
19	HP:0000316	Hypertelorism
20	HP:0002738	Hypoplastic frontal sinuses
21	HP:0002866	Hypoplastic iliac wing
22	HP:0000882	Hypoplastic scapulae
23	HP:0011001	Increased bone mineral density
24	HP:0002659	Increased susceptibility to fractures
25	HP:0002808	Kyphosis
26	HP:0002700	Large foramen magnum
27	HP:0006040	Long second metacarpal
28	HP:0000272	Malar flattening
29	HP:0000347	Micrognathia
30	HP:0011800	Midface retrusion
31	HP:0008848	Moderately short stature
32	HP:0000774	Narrow chest
33	HP:0002643	Neonatal respiratory distress
34	HP:0000242	Parietal bossing
35	HP:0004474	Persistent open anterior fontanelle
36	HP:0002650	Scoliosis
37	HP:0000894	Short clavicles
38	HP:0100864	Short femoral neck
39	HP:0009577	Short middle phalanx of the 2nd finger
40	HP:0004220	Short middle phalanx of the 5th finger
41	HP:0000773	Short ribs
42	HP:0003302	Spondylolisthesis
43	HP:0003304	Spondylolysis
44	HP:0011069	Supernumerary tooth
45	HP:0003396	Syringomyelia
46	HP:0002684	Thickened calvaria
47	HP:0003183	Wide pubic symphysis
48	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001024630.3(RUNX2):c.90dupC (p.Ser31Leufs)	860	RUNX2	Pathogenic	397515538	RCV000055837;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45390361	45390361	NM_001024630.3:c.90dupC	NP_001019801.3:p.Ser31Leufs	NC_000006.11:g.45390361dupC	-	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.189_203delGCAGCAACAGCAGCAinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72Glnfs)	860	RUNX2	Pathogenic	730880313	RCV000009878;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45390460	45390474	NM_001024630.3:c.189_203delGCAGCAACAGCAGCAinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG	NP_001019801.3:p.Glu72Glnfs	NC_000006.11:g.45390460_45390474delGCAGCAACAGCAGCAinsACAGCAGCAGCAGCAGCAGCAACAGCA	OMIM Allelic Variant:600211.0001	C0008928 119600 Cleidocranial dysostosis
NM_001015051.3(RUNX2):c.476G>A (p.Gly159Asp)	860	RUNX2	Pathogenic	864621970	RCV000206373;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45399652	45399652	NM_001015051.3:c.476G>A	NP_001015051.3:p.Gly159Asp	NC_000006.11:g.45399652G>A	-	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.506G>C (p.Arg169Pro)	860	RUNX2	Pathogenic	104893995	RCV000009890;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45399682	45399682	NM_001024630.3:c.506G>C	NP_001019801.3:p.Arg169Pro	NC_000006.11:g.45399682G>C	OMIM Allelic Variant:600211.0012	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.524T>G (p.Met175Arg)	860	RUNX2	Pathogenic	104893989	RCV000009881;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45399700	45399700	NM_001024630.3:c.524T>G	NP_001019801.3:p.Met175Arg	NC_000006.11:g.45399700T>G	OMIM Allelic Variant:600211.0004	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.572G>A (p.Ser191Asn)	860	RUNX2	Pathogenic	104893990	RCV000009882;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45399748	45399748	NM_001024630.3:c.572G>A	NP_001019801.3:p.Ser191Asn	NC_000006.11:g.45399748G>A	OMIM Allelic Variant:600211.0005	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.598A>G (p.Thr200Ala)	860	RUNX2	Pathogenic	104893993	RCV000009887; RCV000009888;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001; MedGen:C1838416	6	45405701	45405701	NM_001024630.3:c.598A>G	NP_001019801.3:p.Thr200Ala	NC_000006.11:g.45405701A>G	OMIM Allelic Variant:600211.0010	C0008928 119600 Cleidocranial dysostosis; C1838416 Cleidocranial dysplasia, forme fruste, dental anomalies only
NM_001024630.3(RUNX2):c.673C>T (p.Arg225Trp)	860	RUNX2	Pathogenic	104893992	RCV000009886;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45405776	45405776	NM_001024630.3:c.673C>T	NP_001019801.3:p.Arg225Trp	NC_000006.11:g.45405776C>T	OMIM Allelic Variant:600211.0009	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.674G>A (p.Arg225Gln)	860	RUNX2	Pathogenic	104893991	RCV000009885;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45405777	45405777	NM_001024630.3:c.674G>A	NP_001019801.3:p.Arg225Gln	NC_000006.11:g.45405777G>A	OMIM Allelic Variant:600211.0008	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.891G>A (p.Trp297Ter)	860	RUNX2	Pathogenic	104893988	RCV000009879;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45480014	45480014	NM_001024630.3:c.891G>A	NP_001019801.3:p.Trp297Ter	NC_000006.11:g.45480014G>A	OMIM Allelic Variant:600211.0002	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.1171C>T (p.Arg391Ter)	860	RUNX2	Pathogenic	397515537	RCV000055836;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45514647	45514647	NM_001024630.3:c.1171C>T	NP_001019801.3:p.Arg391Ter	NC_000006.11:g.45514647C>T	-	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.1228dupC (p.Leu410Profs)	860	RUNX2	Pathogenic	730880315	RCV000009891;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45514704	45514704	NM_001024630.3:c.1228dupC	NP_001019801.3:p.Leu410Profs	NC_000006.11:g.45514704dupC	OMIM Allelic Variant:600211.0013	C0008928 119600 Cleidocranial dysostosis
NM_001024630.3(RUNX2):c.1565G>C (p.Ter522Ser)	860	RUNX2	Pathogenic	104893994	RCV000009889;	N	MedGen:C0008928,OMIM:119600,SNOMED CT:65976001	6	45515041	45515041	NM_001024630.3:c.1565G>C	NP_001019801.3:p.Ter522Ser	NC_000006.11:g.45515041G>C	OMIM Allelic Variant:600211.0011	C0008928 119600 Cleidocranial dysostosis