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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: Ectodermal Dysplasia (D004476)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Ellis-Van Creveld Syndrome (D004613)
Child Nodes:
........Asphyxiating Thoracic Dystrophy 2 (C566982)
........Asphyxiating Thoracic Dystrophy 3 (C567761) 1
........Jeune syndrome (C537571)
........Jeune syndrome situs inversus (C537572)
........Mesoectodermal dysplasia (C538472)
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:

3691

Name:

Ellis-Van Creveld Syndrome

Definition:

Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

Alternative IDs:

OMIM:225500

ParentIDs:

MESH:D004476|MESH:D010009

TreeNumbers:

C05.116.099.708.327 |C16.131.077.350.398 |C16.131.831.350.398 |C16.320.850.250.398 |C17.800.804.350.398 |C17.800.827.250.398

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease

Reference:

MedGen: D004613
MeSH: D004613
OMIM: 225500;

Genes: EVC; EVC2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006477	Abnormality of the alveolar ridges
3	HP:0010454	Acetabular spurs
4	HP:0001631	Atrial septal defect
5	HP:0001241	Capitate-hamate fusion
6	HP:0000204	Cleft upper lip
7	HP:0011565	Common atrium
8	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5
9	HP:0000028	Cryptorchidism
10	HP:0001305	Dandy-Walker malformation
11	HP:0000684	Delayed eruption of teeth
12	HP:0000968	Ectodermal dysplasia
13	HP:0000039	Epispadias
14	HP:0002857	Genu valgum
15	HP:0000888	Horizontal ribs
16	HP:0000668	Hypodontia
17	HP:0002866	Hypoplastic iliac wing
18	HP:0000047	Hypospadias
19	HP:0001249	Intellectual disability	HP:0040283
20	HP:0002164	Nail dysplasia
21	HP:0000774	Narrow chest
22	HP:0000695	Natal tooth
23	HP:0008921	Neonatal short-limb short stature
24	HP:0000768	Pectus carinatum
25	HP:0001830	Postaxial foot polydactyly
26	HP:0001162	Postaxial hand polydactyly
27	HP:0003026	Short long bone
28	HP:0000773	Short ribs
29	HP:0001762	Talipes equinovarus

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_153717.2(EVC):c.735delT (p.Asp246Thrfs)	2121	EVC	Pathogenic	587776619	RCV000005669;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5743475	5743475	NM_153717.2:c.735delT	NP_714928.1:p.Asp246Thrfs		OMIM Allelic Variant:604831.0004	C0013903 225500 Chondroectodermal dysplasia
NM_153717.2(EVC):c.919T>C (p.Ser307Pro)	2121	EVC	Pathogenic	121908426	RCV000005672; RCV000005671;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005; MedGen:C0457013,OMIM:193530,ORPHA:952,SNOMED CT:277807007	4	5747048	5747048	NM_153717.2:c.919T>C	NP_714928.1:p.Ser307Pro	NC_000004.11:g.5747048T>C	OMIM Allelic Variant:604831.0006	C0013903 225500 Chondroectodermal dysplasia; C0457013 193530 Curry-Hall syndrome
NM_153717.2(EVC):c.1018C>T (p.Arg340Ter)	2121	EVC	Pathogenic	121908425	RCV000005668;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5749953	5749953	NM_153717.2:c.1018C>T	NP_714928.1:p.Arg340Ter	NC_000004.11:g.5749953C>T	OMIM Allelic Variant:604831.0003	C0013903 225500 Chondroectodermal dysplasia
NM_153717.2(EVC):c.1328G>A (p.Arg443Gln)	2121	EVC	Pathogenic	35953626	RCV000005670;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5755524	5755524	NM_153717.2:c.1328G>A	NP_714928.1:p.Arg443Gln	NC_000004.11:g.5755524G>A	OMIM Allelic Variant:604831.0005	C0013903 225500 Chondroectodermal dysplasia
NM_153717.2(EVC):c.1886+5G>T	2121	EVC	Pathogenic	794726665	RCV000005666;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5795449	5795449	NM_153717.2:c.1886+5G>T		NC_000004.11:g.5795449G>T	OMIM Allelic Variant:604831.0001	C0013903 225500 Chondroectodermal dysplasia
NM_153717.2(EVC):c.2457delG (p.Met820Trpfs)	2121	EVC	Pathogenic	794726666	RCV000005673;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5806464	5806464	NM_153717.2:c.2457delG	NP_714928.1:p.Met820Trpfs	NC_000004.11:g.5806464delG	OMIM Allelic Variant:604831.0007	C0013903 225500 Chondroectodermal dysplasia
NM_153717.2(EVC):c.2635C>T (p.Gln879Ter)	2121	EVC	Pathogenic	121908424	RCV000005667;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5810001	5810001	NM_153717.2:c.2635C>T	NP_714928.1:p.Gln879Ter	NC_000004.11:g.5810001C>T	OMIM Allelic Variant:604831.0002	C0013903 225500 Chondroectodermal dysplasia
NM_147127.4(EVC2):c.3405_3411delCGGGGCC (p.Gly1136Argfs)	132884	EVC2	Pathogenic	750396637	RCV000176128;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5570317	5570323	NM_147127.4:c.3405_3411delCGGGGCC	NP_667338.3:p.Gly1136Argfs	NC_000004.11:g.5570317_5570323delGGCCCCG	-	C0013903 225500 Chondroectodermal dysplasia
NM_001166136.1(EVC2):c.3025C>T (p.Gln1009Ter)	132884	EVC2	Pathogenic	137852927	RCV000003553;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5577974	5577974	NM_001166136.1:c.3025C>T	NP_001159608.1:p.Gln1009Ter	NC_000004.11:g.5577974G>A	OMIM Allelic Variant:607261.0007	C0013903 225500 Chondroectodermal dysplasia
NM_001166136.1(EVC2):c.2608C>T (p.Arg870Trp)	132884	EVC2	Pathogenic	137852928	RCV000003554;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5586559	5586559	NM_001166136.1:c.2608C>T	NP_001159608.1:p.Arg870Trp	NC_000004.11:g.5586559G>A	OMIM Allelic Variant:607261.0008	C0013903 225500 Chondroectodermal dysplasia
NM_147127.4(EVC2):c.2653C>T (p.Arg885Ter)	132884	EVC2	Pathogenic	146538906	RCV000023642;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5620258	5620258	NM_147127.4:c.2653C>T	NP_667338.3:p.Arg885Ter	NC_000004.11:g.5620258G>A	OMIM Allelic Variant:607261.0011	C0013903 225500 Chondroectodermal dysplasia
NM_147127.4(EVC2):c.2263C>T (p.Gln755Ter)	132884	EVC2	Pathogenic	751356206	RCV000174810;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5624502	5624502	NM_147127.4:c.2263C>T	NP_667338.3:p.Gln755Ter	NC_000004.11:g.5624502G>A	-	C0013903 225500 Chondroectodermal dysplasia
NM_001166136.1(EVC2):c.1615C>T (p.Gln539Ter)	132884	EVC2	Pathogenic	137852925	RCV000003551;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5630317	5630317	NM_001166136.1:c.1615C>T	NP_001159608.1:p.Gln539Ter	NC_000004.11:g.5630317G>A	OMIM Allelic Variant:607261.0005	C0013903 225500 Chondroectodermal dysplasia
NM_001166136.1(EVC2):c.955C>T (p.Arg319Ter)	132884	EVC2	Pathogenic	137852924	RCV000003550;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5642516	5642516	NM_001166136.1:c.955C>T	NP_001159608.1:p.Arg319Ter	NC_000004.11:g.5642516G>A	OMIM Allelic Variant:607261.0004	C0013903 225500 Chondroectodermal dysplasia
NM_001166136.1(EVC2):c.608T>G (p.Ile203Arg)	132884	EVC2	Pathogenic	137852926	RCV000003552;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005	4	5683009	5683009	NM_001166136.1:c.608T>G	NP_001159608.1:p.Ile203Arg	NC_000004.11:g.5683009A>C	OMIM Allelic Variant:607261.0006	C0013903 225500 Chondroectodermal dysplasia