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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: Dwarfism (D004392)
Parent Node: Fetal Growth Retardation (D005317)
Parent Node: Microcephaly (D008831)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
Child Nodes:
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:

7167

Name:

Microcephalic Osteodysplastic Primordial Dwarfism, Type II

Definition:

Alternative IDs:

OMIM:210720

ParentIDs:

MESH:D004392|MESH:D005317|MESH:D008831|MESH:D010009

TreeNumbers:

C05.116.099.343/C565898 |C05.116.099.708/C565898 |C05.660.207.620/C565898 |C10.500.507.400.500/C565898 |C13.703.277.370/C565898 |C16.131.621.207.620/C565898 |C16.131.666.507.400.500/C565898 |C16.300.390/C565898 |C16.320.240/C565898 |C19.297/C565898 |C23.550.393.45

Synonyms:

Majewski Osteodysplastic Primordial Dwarfism Type II |Microcephalic osteodysplastic primordial dwarfism, type 2 |Microcephalic Osteodysplastic Primordial Dwarfism Type II |Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities |Mopd2 |Mopd

Slim Mappings:

Reference:

MedGen: C565898
MeSH: C565898
OMIM: 210720;

Genes: PCNT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007402	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
3	HP:0001156	Brachydactyly
4	HP:0000957	Cafe-au-lait spot
5	HP:0004209	Clinodactyly of the 5th finger
6	HP:0010579	Cone-shaped epiphysis	HP:0040283
7	HP:0002812	Coxa vara
8	HP:0002750	Delayed skeletal maturation
9	HP:0004944	Dilatation of the cerebral artery
10	HP:0003498	Disproportionate short stature
11	HP:0100263	Distal symphalangism	HP:0040283
12	HP:0006297	Enamel hypoplasia
13	HP:0003015	Flared metaphysis
14	HP:0001263	Global developmental delay
15	HP:0001620	High pitched voice
16	HP:0000540	Hypermetropia
17	HP:0002866	Hypoplastic iliac wing
18	HP:0000882	Hypoplastic scapulae	HP:0040283
19	HP:0000047	Hypospadias
20	HP:0001249	Intellectual disability
21	HP:0001511	Intrauterine growth retardation
22	HP:0010583	Ivory epiphyses	HP:0040283
23	HP:0002690	Large sella turcica	HP:0040283
24	HP:0001377	Limited elbow extension	HP:0040283
25	HP:0000890	Long clavicles	HP:0040283
26	HP:0000252	Microcephaly
27	HP:0000691	Microdontia	HP:0040283
28	HP:0008551	Microtia
29	HP:0011834	Moyamoya phenomenon
30	HP:0000774	Narrow chest	HP:0040283
31	HP:0003275	Narrow pelvis bone
32	HP:0008897	Postnatal growth retardation
33	HP:0000826	Precocious puberty
34	HP:0000426	Prominent nasal bridge
35	HP:0000448	Prominent nose
36	HP:0006461	Proximal femoral epiphysiolysis
37	HP:0009193	Pseudoepiphyses of the metacarpals
38	HP:0002986	Radial bowing
39	HP:0000278	Retrognathia
40	HP:0010034	Short 1st metacarpal
41	HP:0009882	Short distal phalanx of finger
42	HP:0005819	Short middle phalanx of finger	HP:0040283
43	HP:0003100	Slender long bone
44	HP:0000340	Sloping forehead
45	HP:0002209	Sparse scalp hair
46	HP:0006587	Straight clavicles	HP:0040283
47	HP:0006645	Thin clavicles	HP:0040283
48	HP:0002982	Tibial bowing
49	HP:0001956	Truncal obesity
50	HP:0005978	Type II diabetes mellitus
51	HP:0003031	Ulnar bowing
52	HP:0000582	Upslanted palpebral fissure

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_006031.5(PCNT):c.55-5C>T	5116	PCNT	Uncertain significance	587784310	RCV000147149;	N	MedGen:C1859451,OMIM:210720	21	47746286	47746286	NM_006031.5:c.55-5C>T		NC_000021.8:g.47746286C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.196G>T (p.Gly66Ter)	5116	PCNT	Likely pathogenic;Pathogenic	587779355	RCV000115045; RCV000171352;	N	MedGen:C1859451,OMIM:210720; MedGen:CN221809	21	47746432	47746432	NM_006031.5:c.196G>T	NP_006022.3:p.Gly66Ter	NC_000021.8:g.47746432G>T	VariO:0043	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2; CN221809 not provided
NM_006031.5(PCNT):c.244G>A (p.Ala82Thr)	5116	PCNT	Uncertain significance	143870030	RCV000147095;	N	MedGen:C1859451,OMIM:210720	21	47746480	47746480	NM_006031.5:c.244G>A	NP_006022.3:p.Ala82Thr	NC_000021.8:g.47746480G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.336T>C (p.His112=)	5116	PCNT	Uncertain significance	59157477	RCV000147111;	N	MedGen:C1859451,OMIM:210720	21	47754379	47754379	NM_006031.5:c.336T>C	NP_006022.3:p.His112=	NC_000021.8:g.47754379T>C	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.339T>A (p.Pro113=)	5116	PCNT	Uncertain significance	59662841	RCV000147112;	N	MedGen:C1859451,OMIM:210720	21	47754382	47754382	NM_006031.5:c.339T>A	NP_006022.3:p.Pro113=	NC_000021.8:g.47754382T>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.427C>T (p.Arg143Cys)	5116	PCNT	Uncertain significance	201176638	RCV000147123;	N	MedGen:C1859451,OMIM:210720	21	47754470	47754470	NM_006031.5:c.427C>T	NP_006022.3:p.Arg143Cys	NC_000021.8:g.47754470C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.445A>T (p.Ser149Cys)	5116	PCNT	Uncertain significance	111737555	RCV000147129;	N	MedGen:C1859451,OMIM:210720	21	47754488	47754488	NM_006031.5:c.445A>T	NP_006022.3:p.Ser149Cys	NC_000021.8:g.47754488A>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.658G>T (p.Glu220Ter)	5116	PCNT	Pathogenic	119479061	RCV000004968;	N	MedGen:C1859451,OMIM:210720	21	47766060	47766060	NM_006031.5:c.658G>T	NP_006022.3:p.Glu220Ter	NC_000021.8:g.47766060G>T	OMIM Allelic Variant:605925.0001	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.931G>A (p.Ala311Thr)	5116	PCNT	Uncertain significance	140196457	RCV000147244;	N	MedGen:C1859451,OMIM:210720	21	47766867	47766867	NM_006031.5:c.931G>A	NP_006022.3:p.Ala311Thr	NC_000021.8:g.47766867G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.1040A>G (p.Lys347Arg)	5116	PCNT	Uncertain significance	80166001	RCV000147087;	N	MedGen:C1859451,OMIM:210720	21	47768933	47768933	NM_006031.5:c.1040A>G	NP_006022.3:p.Lys347Arg	NC_000021.8:g.47768933A>G	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.1468C>T (p.Gln490Ter)	5116	PCNT	Pathogenic	181690344	RCV000147089;	N	MedGen:C1859451,OMIM:210720	21	47773029	47773029	NM_006031.5:c.1468C>T	NP_006022.3:p.Gln490Ter	NC_000021.8:g.47773029C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.1714_1717delAAAG (p.Lys572Glufs)	5116	PCNT	Pathogenic	797045875	RCV000193825;	N	MedGen:C1859451,OMIM:210720	21	47773935	47773938	NM_006031.5:c.1714_1717delAAAG	NP_006022.3:p.Lys572Glufs	NC_000021.8:g.47773935_47773938delAAAG	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.1887delA (p.Ala630Hisfs)	5116	PCNT	Pathogenic	397509366	RCV000004969;	N	MedGen:C1859451,OMIM:210720	21	47775492	47775492	NM_006031.5:c.1887delA	NP_006022.3:p.Ala630Hisfs	NC_000021.8:g.47775492delA	OMIM Allelic Variant:605925.0002	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.2470C>T (p.Leu824=)	5116	PCNT	Uncertain significance	61735803	RCV000147096;	N	MedGen:C1859451,OMIM:210720	21	47783710	47783710	NM_006031.5:c.2470C>T	NP_006022.3:p.Leu824=	NC_000021.8:g.47783710C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.2710C>T (p.Leu904Phe)	5116	PCNT	Uncertain significance	61735804	RCV000147101;	N	MedGen:C1859451,OMIM:210720	21	47786599	47786599	NM_006031.5:c.2710C>T	NP_006022.3:p.Leu904Phe	NC_000021.8:g.47786599C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.2714A>G (p.Gln905Arg)	5116	PCNT	Uncertain significance	112231246	RCV000147102;	N	MedGen:C1859451,OMIM:210720	21	47786603	47786603	NM_006031.5:c.2714A>G	NP_006022.3:p.Gln905Arg	NC_000021.8:g.47786603A>G	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.2742A>G (p.Ser914=)	5116	PCNT	Uncertain significance	587784301	RCV000147103;	N	MedGen:C1859451,OMIM:210720	21	47786631	47786631	NM_006031.5:c.2742A>G	NP_006022.3:p.Ser914=	NC_000021.8:g.47786631A>G	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.2984_2994delCAGACTTTGAG (p.Ala995Glyfs)	5116	PCNT	Pathogenic	587784302	RCV000147105;	N	MedGen:C1859451,OMIM:210720	21	47786873	47786883	NM_006031.5:c.2984_2994delCAGACTTTGAG	NP_006022.3:p.Ala995Glyfs	NC_000021.8:g.47786873_47786883delCAGACTTTGAG	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3109G>T (p.Glu1037Ter)	5116	PCNT	Pathogenic	119479063	RCV000004973;	N	MedGen:C1859451,OMIM:210720	21	47786998	47786998	NM_006031.5:c.3109G>T	NP_006022.3:p.Glu1037Ter	NC_000021.8:g.47786998G>T	OMIM Allelic Variant:605925.0006	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3220C>T (p.Arg1074Trp)	5116	PCNT	Uncertain significance	200174202	RCV000147107;	N	MedGen:C1859451,OMIM:210720	21	47801663	47801663	NM_006031.5:c.3220C>T	NP_006022.3:p.Arg1074Trp	NC_000021.8:g.47801663C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3233C>A (p.Ala1078Glu)	5116	PCNT	Uncertain significance	587784303	RCV000147108;	N	MedGen:C1859451,OMIM:210720	21	47801676	47801676	NM_006031.5:c.3233C>A	NP_006022.3:p.Ala1078Glu	NC_000021.8:g.47801676C>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3282G>T (p.Gln1094His)	5116	PCNT	Uncertain significance	78484478	RCV000147109;	N	MedGen:C1859451,OMIM:210720	21	47801725	47801725	NM_006031.5:c.3282G>T	NP_006022.3:p.Gln1094His	NC_000021.8:g.47801725G>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3460G>T (p.Glu1154Ter)	5116	PCNT	Pathogenic	387906928	RCV000023500;	N	MedGen:C1859451,OMIM:210720	21	47805894	47805894	NM_006031.5:c.3460G>T	NP_006022.3:p.Glu1154Ter	NC_000021.8:g.47805894G>T	OMIM Allelic Variant:605925.0011	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3568dupT (p.Cys1190Leufs)	5116	PCNT	Pathogenic	397514033	RCV000004970;	N	MedGen:C1859451,OMIM:210720	21	47808760	47808760	NM_006031.5:c.3568dupT	NP_006022.3:p.Cys1190Leufs	NC_000021.8:g.47808760dupT	OMIM Allelic Variant:605925.0003	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3581C>T (p.Ala1194Val)	5116	PCNT	Uncertain significance	138254119	RCV000147116;	N	MedGen:C1859451,OMIM:210720	21	47808773	47808773	NM_006031.5:c.3581C>T	NP_006022.3:p.Ala1194Val	NC_000021.8:g.47808773C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3748C>T (p.Arg1250Trp)	5116	PCNT	Uncertain significance	117987006	RCV000147118;	N	MedGen:C1859451,OMIM:210720	21	47809254	47809254	NM_006031.5:c.3748C>T	NP_006022.3:p.Arg1250Trp	NC_000021.8:g.47809254C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.3992A>G (p.His1331Arg)	5116	PCNT	Uncertain significance	34012939	RCV000147119;	N	MedGen:C1859451,OMIM:210720	21	47810736	47810736	NM_006031.5:c.3992A>G	NP_006022.3:p.His1331Arg	NC_000021.8:g.47810736A>G	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.4139C>T (p.Ala1380Val)	5116	PCNT	Uncertain significance	201139850	RCV000147120;	N	MedGen:C1859451,OMIM:210720	21	47811214	47811214	NM_006031.5:c.4139C>T	NP_006022.3:p.Ala1380Val	NC_000021.8:g.47811214C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.4175G>A (p.Arg1392Gln)	5116	PCNT	Uncertain significance	587784304	RCV000147121;	N	MedGen:C1859451,OMIM:210720	21	47811250	47811250	NM_006031.5:c.4175G>A	NP_006022.3:p.Arg1392Gln	NC_000021.8:g.47811250G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.4354G>A (p.Gly1452Arg)	5116	PCNT	Uncertain significance	143796569	RCV000147127;	N	MedGen:C1859451,OMIM:210720	21	47817316	47817316	NM_006031.5:c.4354G>A	NP_006022.3:p.Gly1452Arg	NC_000021.8:g.47817316G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.4431G>A (p.Gln1477=)	5116	PCNT	Uncertain significance	61735807	RCV000147128;	N	MedGen:C1859451,OMIM:210720	21	47817393	47817393	NM_006031.5:c.4431G>A	NP_006022.3:p.Gln1477=	NC_000021.8:g.47817393G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.4769A>G (p.Asn1590Ser)	5116	PCNT	Uncertain significance	587784307	RCV000147135;	N	MedGen:C1859451,OMIM:210720	21	47819688	47819688	NM_006031.5:c.4769A>G	NP_006022.3:p.Asn1590Ser	NC_000021.8:g.47819688A>G	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.4844C>T (p.Thr1615Met)	5116	PCNT	Uncertain significance	139581644	RCV000147136;	N	MedGen:C1859451,OMIM:210720	21	47821517	47821517	NM_006031.5:c.4844C>T	NP_006022.3:p.Thr1615Met	NC_000021.8:g.47821517C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.4938_4939delAG (p.Arg1646Serfs)	5116	PCNT	Pathogenic	797045879	RCV000193571;	N	MedGen:C1859451,OMIM:210720	21	47821611	47821612	NM_006031.5:c.4938_4939delAG	NP_006022.3:p.Arg1646Serfs	NC_000021.8:g.47821611_47821612delAG	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5020G>T (p.Glu1674Ter)	5116	PCNT	Pathogenic	587784308	RCV000147141;	N	MedGen:C1859451,OMIM:210720	21	47822302	47822302	NM_006031.5:c.5020G>T	NP_006022.3:p.Glu1674Ter	NC_000021.8:g.47822302G>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5199G>A (p.Lys1733=)	5116	PCNT	Uncertain significance	61735808	RCV000147143;	N	MedGen:C1859451,OMIM:210720	21	47831186	47831186	NM_006031.5:c.5199G>A	NP_006022.3:p.Lys1733=	NC_000021.8:g.47831186G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5347C>T (p.Pro1783Ser)	5116	PCNT	Uncertain significance	61735809	RCV000147146;	N	MedGen:C1859451,OMIM:210720	21	47831334	47831334	NM_006031.5:c.5347C>T	NP_006022.3:p.Pro1783Ser	NC_000021.8:g.47831334C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5431C>T (p.Arg1811Cys)	5116	PCNT	Uncertain significance	587784309	RCV000147148;	N	MedGen:C1859451,OMIM:210720	21	47831418	47831418	NM_006031.5:c.5431C>T	NP_006022.3:p.Arg1811Cys	NC_000021.8:g.47831418C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5578G>T (p.Glu1860Ter)	5116	PCNT	Pathogenic	369195346	RCV000147151;	N	MedGen:C1859451,OMIM:210720	21	47831565	47831565	NM_006031.5:c.5578G>T	NP_006022.3:p.Glu1860Ter	NC_000021.8:g.47831565G>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5677G>T (p.Ala1893Ser)	5116	PCNT	Uncertain significance	587784311	RCV000147152;	N	MedGen:C1859451,OMIM:210720	21	47831664	47831664	NM_006031.5:c.5677G>T	NP_006022.3:p.Ala1893Ser	NC_000021.8:g.47831664G>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5727_5736delCCTGGCAGCC (p.Leu1910Glyfs)	5116	PCNT	Pathogenic	587784312	RCV000147153;	N	MedGen:C1859451,OMIM:210720	21	47831714	47831723	NM_006031.5:c.5727_5736delCCTGGCAGCC	NP_006022.3:p.Leu1910Glyfs	NC_000021.8:g.47831714_47831723delCCTGGCAGCC	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5767C>T (p.Arg1923Ter)	5116	PCNT	Pathogenic	119479062	RCV000004971;	N	MedGen:C1859451,OMIM:210720	21	47831754	47831754	NM_006031.5:c.5767C>T	NP_006022.3:p.Arg1923Ter	NC_000021.8:g.47831754C>T	OMIM Allelic Variant:605925.0004	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.5774A>C (p.Gln1925Pro)	5116	PCNT	Uncertain significance	587784313	RCV000147155;	N	MedGen:C1859451,OMIM:210720	21	47831761	47831761	NM_006031.5:c.5774A>C	NP_006022.3:p.Gln1925Pro	NC_000021.8:g.47831761A>C	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.6572C>A (p.Ser2191Tyr)	5116	PCNT	Uncertain significance	587784315	RCV000147169;	N	MedGen:C1859451,OMIM:210720	21	47836404	47836404	NM_006031.5:c.6572C>A	NP_006022.3:p.Ser2191Tyr	NC_000021.8:g.47836404C>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.6633C>T (p.Pro2211=)	5116	PCNT	Uncertain significance	587784316	RCV000147173;	N	MedGen:C1859451,OMIM:210720	21	47836465	47836465	NM_006031.5:c.6633C>T	NP_006022.3:p.Pro2211=	NC_000021.8:g.47836465C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.6722G>A (p.Ser2241Asn)	5116	PCNT	Uncertain significance	142402562	RCV000147176;	N	MedGen:C1859451,OMIM:210720	21	47836554	47836554	NM_006031.5:c.6722G>A	NP_006022.3:p.Ser2241Asn	NC_000021.8:g.47836554G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.6761G>A (p.Cys2254Tyr)	5116	PCNT	Uncertain significance	141635334	RCV000147178;	N	MedGen:C1859451,OMIM:210720	21	47836593	47836593	NM_006031.5:c.6761G>A	NP_006022.3:p.Cys2254Tyr	NC_000021.8:g.47836593G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.6922-4A>T	5116	PCNT	Uncertain significance	587784317	RCV000147181;	N	MedGen:C1859451,OMIM:210720	21	47838114	47838114	NM_006031.5:c.6922-4A>T		NC_000021.8:g.47838114A>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.7011T>C (p.Asp2337=)	5116	PCNT	Uncertain significance	138506849	RCV000147186;	N	MedGen:C1859451,OMIM:210720	21	47838207	47838207	NM_006031.5:c.7011T>C	NP_006022.3:p.Asp2337=	NC_000021.8:g.47838207T>C	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.7297T>C (p.Ser2433Pro)	5116	PCNT	Uncertain significance	113536916	RCV000147196;	N	MedGen:C1859451,OMIM:210720	21	47845862	47845862	NM_006031.5:c.7297T>C	NP_006022.3:p.Ser2433Pro	NC_000021.8:g.47845862T>C	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.7321-10C>T	5116	PCNT	Uncertain significance	587784318	RCV000147197;	N	MedGen:C1859451,OMIM:210720	21	47847526	47847526	NM_006031.5:c.7321-10C>T		NC_000021.8:g.47847526C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.7465G>A (p.Glu2489Lys)	5116	PCNT	Uncertain significance	148485670	RCV000147200;	N	MedGen:C1859451,OMIM:210720	21	47847680	47847680	NM_006031.5:c.7465G>A	NP_006022.3:p.Glu2489Lys	NC_000021.8:g.47847680G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.7648G>A (p.Glu2550Lys)	5116	PCNT	Uncertain significance	71326327	RCV000147205;	N	MedGen:C1859451,OMIM:210720	21	47848462	47848462	NM_006031.5:c.7648G>A	NP_006022.3:p.Glu2550Lys	NC_000021.8:g.47848462G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.7655G>A (p.Arg2552His)	5116	PCNT	Uncertain significance	199589423	RCV000147207;	N	MedGen:C1859451,OMIM:210720	21	47848469	47848469	NM_006031.5:c.7655G>A	NP_006022.3:p.Arg2552His	NC_000021.8:g.47848469G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.7796delT (p.Leu2599Argfs)	5116	PCNT	Pathogenic	587784319	RCV000147209;	N	MedGen:C1859451,OMIM:210720	21	47850029	47850029	NM_006031.5:c.7796delT	NP_006022.3:p.Leu2599Argfs	NC_000021.8:g.47850029delT	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.8398C>T (p.Arg2800Trp)	5116	PCNT	Uncertain significance	142608069	RCV000147223;	N	MedGen:C1859451,OMIM:210720	21	47851776	47851776	NM_006031.5:c.8398C>T	NP_006022.3:p.Arg2800Trp	NC_000021.8:g.47851776C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.8672C>T (p.Ala2891Val)	5116	PCNT	Uncertain significance	144963695	RCV000147226;	N	MedGen:C1859451,OMIM:210720	21	47852050	47852050	NM_006031.5:c.8672C>T	NP_006022.3:p.Ala2891Val	NC_000021.8:g.47852050C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.8752C>T (p.Arg2918Ter)	5116	PCNT	Pathogenic	119479064	RCV000004975;	N	MedGen:C1859451,OMIM:210720	21	47855817	47855817	NM_006031.5:c.8752C>T	NP_006022.3:p.Arg2918Ter	NC_000021.8:g.47855817C>T	OMIM Allelic Variant:605925.0008	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.8868dupT (p.Ala2957Cysfs)	5116	PCNT	Pathogenic	587784320	RCV000147229;	N	MedGen:C1859451,OMIM:210720	21	47855933	47855933	NM_006031.5:c.8868dupT	NP_006022.3:p.Ala2957Cysfs	NC_000021.8:g.47855933dupT	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.8873G>A (p.Arg2958His)	5116	PCNT	Uncertain significance	574728262	RCV000147230;	N	MedGen:C1859451,OMIM:210720	21	47855938	47855938	NM_006031.5:c.8873G>A	NP_006022.3:p.Arg2958His	NC_000021.8:g.47855938G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.8917C>T (p.Arg2973Ter)	5116	PCNT	Pathogenic	587784321	RCV000147233;	N	MedGen:C1859451,OMIM:210720	21	47855982	47855982	NM_006031.5:c.8917C>T	NP_006022.3:p.Arg2973Ter	NC_000021.8:g.47855982C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.8947C>G (p.Leu2983Val)	5116	PCNT	Uncertain significance	372356069	RCV000147235;	N	MedGen:C1859451,OMIM:210720	21	47856012	47856012	NM_006031.5:c.8947C>G	NP_006022.3:p.Leu2983Val	NC_000021.8:g.47856012C>G,NC_000021.8:g.47856012C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.8959C>T (p.Arg2987Trp)	5116	PCNT	Uncertain significance	587784322	RCV000147236;	N	MedGen:C1859451,OMIM:210720	21	47856024	47856024	NM_006031.5:c.8959C>T	NP_006022.3:p.Arg2987Trp	NC_000021.8:g.47856024C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.9174G>A (p.Ala3058=)	5116	PCNT	Uncertain significance	554275370	RCV000147240;	N	MedGen:C1859451,OMIM:210720	21	47858151	47858151	NM_006031.5:c.9174G>A	NP_006022.3:p.Ala3058=	NC_000021.8:g.47858151G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.9584G>A (p.Arg3195Lys)	5116	PCNT	Uncertain significance	78524660	RCV000147246;	N	MedGen:C1859451,OMIM:210720	21	47860958	47860958	NM_006031.5:c.9584G>A	NP_006022.3:p.Arg3195Lys	NC_000021.8:g.47860958G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.9698C>G (p.Pro3233Arg)	5116	PCNT	Uncertain significance	373681566	RCV000147248;	N	MedGen:C1859451,OMIM:210720	21	47862484	47862484	NM_006031.5:c.9698C>G	NP_006022.3:p.Pro3233Arg	NC_000021.8:g.47862484C>G	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.9719C>T (p.Pro3240Leu)	5116	PCNT	Uncertain significance	138860570	RCV000147249;	N	MedGen:C1859451,OMIM:210720	21	47863741	47863741	NM_006031.5:c.9719C>T	NP_006022.3:p.Pro3240Leu	NC_000021.8:g.47863741C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.9740G>A (p.Arg3247Lys)	5116	PCNT	Uncertain significance	587784323	RCV000147251;	N	MedGen:C1859451,OMIM:210720	21	47863762	47863762	NM_006031.5:c.9740G>A	NP_006022.3:p.Arg3247Lys	NC_000021.8:g.47863762G>A	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.9820T>G (p.Ser3274Ala)	5116	PCNT	Uncertain significance	144044246	RCV000147252;	N	MedGen:C1859451,OMIM:210720	21	47863842	47863842	NM_006031.5:c.9820T>G	NP_006022.3:p.Ser3274Ala	NC_000021.8:g.47863842T>G	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2
NM_006031.5(PCNT):c.9968-3C>T	5116	PCNT	Uncertain significance	182378192	RCV000147253;	N	MedGen:C1859451,OMIM:210720	21	47865194	47865194	NM_006031.5:c.9968-3C>T		NC_000021.8:g.47865194C>T	-	C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2