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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

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

Disease Browser
Parent Node: Chondrodysplasia Punctata (D002806)
Parent Node: Genetic Diseases, X-Linked (D040181)
..Starting node ..Chondrodysplasia punctata 2, X-linked dominant (C538416)
Child Nodes:
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Abruzzo Erickson syndrome (C535559)
..Achromatopsia incomplete, X-linked (C538165)
..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..Agammaglobulinemia, X-linked, type 2 (C538057)
..Aicardi Syndrome (D058540) 1
..Aland Island Eye Disease (C562664)
..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alzheimer Disease 16 (C567463)
..Androgen-Insensitivity Syndrome (D013734) 2
..Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Anemia, X-Linked, without Thrombocytopenia (C564429)
..Anencephaly and spina bifida X-linked (C536359)
..Aneurysm, Intracranial Berry, 5 (C563670)
..Angioma serpiginosum, X-linked (C536366)
..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
..Arthrogryposis, X-Linked, Type V (C564574)
..Arts syndrome (C535388)
..Atypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
..Atypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
..Barth Syndrome (D056889) 2
..Bornholm Eye Disease (C564092)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..Branchial arch syndrome X-linked (C537102)
..Brunner Syndrome (C563156)
..Bruton type agammaglobulinemia (C537409)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cantu syndrome (C535572)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardiomyopathy, Dilated, 3A (C564721)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Chondrodysplasia punctata 2, X-linked dominant (C538416)
..Chondrodysplasia punctata, brachytelephalangic (C535941)
..Choroideremia (D015794) 2
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Cleft Palate with Ankyloglossia (C564442)
..Cleft palate X-linked (C536426)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Congenital alopecia X-linked (C535981)
..Congenital Heart Defects, X-Linked (C567444)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Congenital idiopathic intestinal pseudoobstruction (C535532)
..Corpus Callosum, Partial Agenesis of, X-Linked (C564115)
..Craniofacioskeletal Syndrome (C567471)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Dent Disease (D057973) 1
..Dent disease 1 (C538212)
..Dent Disease 2 (C564487)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyserythropoietic Anemia with Thrombocytopenia (C564525)
..Dyskeratosis Congenita (D019871) 3
..Dystonia 3, Torsion, X-Linked (C564048)
..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Ehlers-Danlos syndrome type 5 (C536197)
..Epidermodysplasia Verruciformis, X-Linked (C564430)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Episodic Muscle Weakness, X-Linked (C564565)
..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..Fabry Disease (D000795) 2
..Fetal akinesia syndrome, X-linked (C537921)
..Fg Syndrome 5 (C564480)
..Focal Dermal Hypoplasia (D005489) 1
..Glycogen Storage Disease Type IIb (D052120)
..Glycogen Storage Disease Type VIII (D006015)
..Glycogen Storage Disease, Type IXA2 (C567579)
..Glycogen Storage Disease, Type IXD (C564485)
..Granulomatous Disease, Chronic (D006105) 7
..Hemophilia B (D002836)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..Hodgkin disease, X-linked pseudoautosomal (C538326)
..Hydrocephalus With Cerebellar Agenesis (C564407)
..Hydrocephalus, X-linked (C536078)
..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1
..Hyperekplexia and Epilepsy (C564474)
..Hypertrichosis congenital generalized X-linked (C538388)
..Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
..Hypogammaglobulinemia, X-Linked (C562478)
..Hypoparathyroidism, X-Linked (C562782)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Ichthyosis, X-Linked (D016114) 2
..Ichthyosis, X-Linked, Complicated (C567443)
..Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Joubert Syndrome 10 (C567582)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Leigh Syndrome, X-Linked (C564114)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Liver Glycogenosis, X-Linked, Type II (C564421)
..Lymphoproliferative Syndrome, X-Linked, 2 (C564469)
..Macrothrombocytopenia, X-Linked (C564526)
..Macular Dystrophy, X-Linked (C564110)
..Major Affective Disorder 2 (C564108)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..Megalocornea (C562829)
..Membranoproliferative Glomerulonephritis, X-Linked (C564423)
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mental Retardation, X-Linked (D038901) 134
..Mental Retardation, X-Linked, Syndromic 12 (C564106)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Mental Retardation, X-Linked, Znf711-Related (C567583)
..Microcephaly microcornea syndrome Seemanova type (C537539)
..Microphthalmia, Isolated, with Coloboma 1 (C564531)
..Microphthalmia, syndromic 7 (C537466)
..Midline Defects, X-Linked (C564054)
..Mitral valve prolapse, familial, X-linked (C537478)
..Modifier, X-Linked, for Neurofunctional Defects (C564098)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myopia 1 (C564091)
..Myopia 13 (C564473)
..Nance-Horan syndrome (C538336)
..Nasodigitoacoustic syndrome (C538337)
..NEMO mutation with immunodeficiency (C538399)
..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Neural tube defects X-linked (C536410)
..Neuropathy, Hereditary Sensory, X-Linked (C564090)
..Neutropenia, Severe Congenital, X-Linked (C564539)
..Night blindness, congenital stationary (C536122) 4
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..Oculocerebrorenal Syndrome (D009800) 1
..Ophthalmoplegia, External, and Myopia (C564087)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Optic atrophy, X-linked (C537125)
..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
..Ovarian Dysgenesis 2 (C564499)
..Panhypopituitarism X-linked (C538613)
..Parathyroid Glands, Agenesis Of (C563238)
..Parkinson Disease 12 (C564486)
..Parkinsonism, early onset with mental retardation (C537179)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Premature Ovarian Failure 2a (C564498)
..Progressive hearing loss stapes fixation (C536424)
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Properdin deficiency, X-linked (C537241)
..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
..Prostate Cancer, Hereditary, X-Linked 2 (C567477)
..Protoporphyria, Erythropoietic, X-Linked Dominant (C567464)
..Proud Syndrome (C563110)
..Ptosis, Hereditary Congenital 2 (C564553)
..Radial Ray Deficiency, X-Linked (C564523)
..Radiation Sensitivity of Natural Killer Activity (C564066)
..Radius absent anogenital anomalies (C535281)
..Reticuloendotheliosis, X-linked (C538362)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Russell-Silver Syndrome, X-Linked (C562446)
..Short Stature, Idiopathic, X-Linked (C564479)
..Simpson-Golabi-Behmel syndrome (C537340)
..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic Paraplegia 34, X-Linked (C567465)
..Spina Bifida, X-Linked (C564459)
..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
..Spinocerebellar ataxia, X-linked, 3 (C537315)
..Split-Hand Foot Malformation 2 (C564056) 1
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Surfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Testicular Germ Cell Tumor 1 (C564559)
..Thrombocytopenia 1 (C564052)
..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..Thrombocytopenia, X-Linked, Intermittent (C564053)
..Thrombocytosis, Familial X-Linked (C564532)
..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
..Thyroxine-Binding Globulin Deficiency (C564049)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Torticollis keloids cryptorchidism renal dysplasia (C536970)
..VACTERL Association With Hydrocephalus (C564751)
..VACTERL association with hydrocephaly, X-linked (C536520)
..Vasquez Hurst Sotos syndrome (C536533)
..Vesicoureteral Reflux, X-Linked (C564042)
..Von Willebrand Disease, X-Linked Form (C564041)
..Wells Jankovic syndrome (C536692)
..Wieacker syndrome (C536703)
..Wiskott-Aldrich Syndrome (D014923) 1
..X Inactivation, Familial Skewed, 1 (C564716)
..X Inactivation, Familial Skewed, 2 (C564572)
..X-linked adrenal hypoplasia congenita (C536757)
..X-Linked Chondrodysplasia Punctata 1 (C580533)
..X-Linked Combined Immunodeficiency Diseases (D053632) 1
..X-Linked Infantile Nystagmus (C580539)
..X-linked sideroblastic anemia (C536761)
..X-linked tetra-amelia (C536497)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2132

Name:

Chondrodysplasia punctata 2, X-linked dominant

Definition:

Alternative IDs:

OMIM:302960

ParentIDs:

MESH:D002806|MESH:D040181

TreeNumbers:

C05.116.099.708.195/C538416 |C16.320.322/C538416

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C538416
MeSH: C538416
OMIM: 302960;

Genes: EBP;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0000765	Abnormal thorax morphology
4	HP:0002644	Abnormality of pelvic girdle bone morphology
5	HP:0000377	Abnormality of the pinna
6	HP:0001596	Alopecia
7	HP:0001776	Bilateral talipes equinovarus
8	HP:0000518	Cataract
9	HP:0011120	Concave nasal ridge
10	HP:0007431	Congenital ichthyosiform erythroderma
11	HP:0001305	Dandy-Walker malformation
12	HP:0000494	Downslanted palpebral fissures
13	HP:0000969	Edema
14	HP:0003465	Elevated 8(9)-cholestenol
15	HP:0003462	Elevated 8-dehydrocholesterol
16	HP:0010655	Epiphyseal stippling
17	HP:0001019	Erythroderma
18	HP:0001508	Failure to thrive
19	HP:0012368	Flat face
20	HP:0002007	Frontal bossing
21	HP:0000501	Glaucoma
22	HP:0000365	Hearing impairment
23	HP:0100556	Hemiatrophy
24	HP:0002937	Hemivertebrae
25	HP:0000126	Hydronephrosis
26	HP:0002342	Intellectual disability, moderate
27	HP:0000272	Malar flattening
28	HP:0000568	Microphthalmia
29	HP:0000639	Nystagmus
30	HP:0002999	Patellar dislocation
31	HP:0010442	Polydactyly	HP:0040283
32	HP:0001561	Polyhydramnios
33	HP:0100259	Postaxial polydactyly	HP:0040283
34	HP:0008897	Postnatal growth retardation
35	HP:0008420	Punctate vertebral calcifications
36	HP:0002650	Scoliosis
37	HP:0000470	Short neck
38	HP:0000535	Sparse and thin eyebrow
39	HP:0000653	Sparse eyelashes
40	HP:0004241	Stippled calcification in carpal bones
41	HP:0008131	Tarsal stippling
42	HP:0002787	Tracheal calcification
43	HP:0002777	Tracheal stenosis
44	HP:0003828	Variable expressivity

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_006579.2(EBP):c.87G>A (p.Trp29Ter)	10682	EBP	Pathogenic	104894798	RCV000012238;	N	MedGen:C0282102,OMIM:302960	X	48382246	48382246	NM_006579.2:c.87G>A	NP_006570.1:p.Trp29Ter	NC_000023.10:g.48382246G>A	OMIM Allelic Variant:300205.0001	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.141G>T (p.Trp47Cys)	10682	EBP	Pathogenic	587783599	RCV000145922;	N	MedGen:C0282102,OMIM:302960	X	48382300	48382300	NM_006579.2:c.141G>T	NP_006570.1:p.Trp47Cys	NC_000023.10:g.48382300G>T	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.182G>A (p.Trp61Ter)	10682	EBP	Pathogenic	587783600	RCV000145924;	N	MedGen:C0282102,OMIM:302960	X	48382341	48382341	NM_006579.2:c.182G>A	NP_006570.1:p.Trp61Ter	NC_000023.10:g.48382341G>A	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.187C>T (p.Arg63Ter)	10682	EBP	Pathogenic	104894799	RCV000012239;	N	MedGen:C0282102,OMIM:302960	X	48382346	48382346	NM_006579.2:c.187C>T	NP_006570.1:p.Arg63Ter	NC_000023.10:g.48382346C>T	OMIM Allelic Variant:300205.0002	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.201_203dupCTG (p.Cys67_Trp68insCys)	10682	EBP	Likely pathogenic	797045542	RCV000192563;	N	MedGen:C0282102,OMIM:302960	X	48382360	48382362	NM_006579.2:c.201_203dupCTG	NP_006570.1:p.Cys67_Trp68insCys	NC_000023.10:g.48382360_48382362dupCTG	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.204G>T (p.Trp68Cys)	10682	EBP	Likely pathogenic	587783601	RCV000145925;	N	MedGen:C0282102,OMIM:302960	X	48382363	48382363	NM_006579.2:c.204G>T	NP_006570.1:p.Trp68Cys	NC_000023.10:g.48382363G>T	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.214T>C (p.Cys72Arg)	10682	EBP	Likely pathogenic	587783602	RCV000145926;	N	MedGen:C0282102,OMIM:302960	X	48382373	48382373	NM_006579.2:c.214T>C	NP_006570.1:p.Cys72Arg	NC_000023.10:g.48382373T>C	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.218G>A (p.Gly73Glu)	10682	EBP	Likely pathogenic	587783603	RCV000145927;	N	MedGen:C0282102,OMIM:302960	X	48382377	48382377	NM_006579.2:c.218G>A	NP_006570.1:p.Gly73Glu	NC_000023.10:g.48382377G>A	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.225dupT (p.His76Serfs)	10682	EBP	Pathogenic	797045543	RCV000193764;	N	MedGen:C0282102,OMIM:302960	X	48382384	48382384	NM_006579.2:c.225dupT	NP_006570.1:p.His76Serfs	NC_000023.10:g.48382384dupT	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.238G>A (p.Glu80Lys)	10682	EBP	Pathogenic	104894800	RCV000012240;	N	MedGen:C0282102,OMIM:302960	X	48382397	48382397	NM_006579.2:c.238G>A	NP_006570.1:p.Glu80Lys	NC_000023.10:g.48382397G>A	OMIM Allelic Variant:300205.0003	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.292_296delTCTCA (p.Ser98Thrfs)	10682	EBP	Pathogenic	587783604	RCV000145928;	N	MedGen:C0282102,OMIM:302960	X	48382451	48382455	NM_006579.2:c.292_296delTCTCA	NP_006570.1:p.Ser98Thrfs	NC_000023.10:g.48382451_48382455delTCTCA	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.299T>C (p.Leu100Pro)	10682	EBP	Likely pathogenic	587783605	RCV000145929;	N	MedGen:C0282102,OMIM:302960	X	48382458	48382458	NM_006579.2:c.299T>C	NP_006570.1:p.Leu100Pro	NC_000023.10:g.48382458T>C	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.301+2T>A	10682	EBP	Pathogenic	587783606	RCV000145930;	N	MedGen:C0282102,OMIM:302960	X	48382462	48382462	NM_006579.2:c.301+2T>A		NC_000023.10:g.48382462T>A	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.303G>T (p.Trp101Cys)	10682	EBP	Likely pathogenic	587783607	RCV000145931;	N	MedGen:C0282102,OMIM:302960	X	48385378	48385378	NM_006579.2:c.303G>T	NP_006570.1:p.Trp101Cys	NC_000023.10:g.48385378G>T	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.304A>T (p.Lys102Ter)	10682	EBP	Pathogenic	587783608	RCV000145932;	N	MedGen:C0282102,OMIM:302960	X	48385379	48385379	NM_006579.2:c.304A>T	NP_006570.1:p.Lys102Ter	NC_000023.10:g.48385379A>T	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.310T>C (p.Tyr104His)	10682	EBP	Pathogenic	587783609	RCV000145933;	N	MedGen:C0282102,OMIM:302960	X	48385385	48385385	NM_006579.2:c.310T>C	NP_006570.1:p.Tyr104His	NC_000023.10:g.48385385T>C	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.311A>G (p.Tyr104Cys)	10682	EBP	Likely pathogenic	587783610	RCV000145934;	N	MedGen:C0282102,OMIM:302960	X	48385386	48385386	NM_006579.2:c.311A>G	NP_006570.1:p.Tyr104Cys	NC_000023.10:g.48385386A>G	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.314C>A (p.Ala105Asp)	10682	EBP	Likely pathogenic	587783611	RCV000145935;	N	MedGen:C0282102,OMIM:302960	X	48385389	48385389	NM_006579.2:c.314C>A	NP_006570.1:p.Ala105Asp	NC_000023.10:g.48385389C>A	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.320G>A (p.Gly107Glu)	10682	EBP	Likely pathogenic	587783612	RCV000145936;	N	MedGen:C0282102,OMIM:302960	X	48385395	48385395	NM_006579.2:c.320G>A	NP_006570.1:p.Gly107Glu	NC_000023.10:g.48385395G>A	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.328C>T (p.Arg110Ter)	10682	EBP	Pathogenic	587783613	RCV000145937;	N	MedGen:C0282102,OMIM:302960	X	48385403	48385403	NM_006579.2:c.328C>T	NP_006570.1:p.Arg110Ter	NC_000023.10:g.48385403C>T	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.329_332dupGATA (p.Tyr111Terfs)	10682	EBP	Pathogenic	797045544	RCV000194606;	N	MedGen:C0282102,OMIM:302960	X	48385404	48385407	NM_006579.2:c.329_332dupGATA	NP_006570.1:p.Tyr111Terfs	NC_000023.10:g.48385404_48385407dupGATA	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.331T>C (p.Tyr111His)	10682	EBP	Likely pathogenic	587783614	RCV000145938;	N	MedGen:C0282102,OMIM:302960	X	48385406	48385406	NM_006579.2:c.331T>C	NP_006570.1:p.Tyr111His	NC_000023.10:g.48385406T>C	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.369_379delCATCACAGCTTinsAG (p.Ile124_Cys127delinsGly)	10682	EBP	Likely pathogenic	797045545	RCV000192822;	N	MedGen:C0282102,OMIM:302960	X	48385573	48385583	NM_006579.2:c.369_379delCATCACAGCTTinsAG	NP_006570.1:p.Ile124_Cys127delinsGly	NC_000023.10:g.48385573_48385583delCATCACAGCTTinsAG	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.382C>T (p.Leu128=)	10682	EBP	Uncertain significance	142881014	RCV000145939;	N	MedGen:C0282102,OMIM:302960	X	48385586	48385586	NM_006579.2:c.382C>T	NP_006570.1:p.Leu128=	NC_000023.10:g.48385586C>T	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.386G>A (p.Trp129Ter)	10682	EBP	Pathogenic	104894792	RCV000012244;	N	MedGen:C0282102,OMIM:302960	X	48385590	48385590	NM_006579.2:c.386G>A	NP_006570.1:p.Trp129Ter	NC_000023.10:g.48385590G>A	OMIM Allelic Variant:300205.0009	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.423_427delCCGCCinsT (p.Arg142Serfs)	10682	EBP	Pathogenic	797045546	RCV000193635;	N	MedGen:C0282102,OMIM:302960	X	48385627	48385631	NM_006579.2:c.423_427delCCGCCinsT	NP_006570.1:p.Arg142Serfs	NC_000023.10:g.48385627_48385631delCCGCCinsT	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.440G>A (p.Arg147His)	10682	EBP	Pathogenic	28935174	RCV000012247;	N	MedGen:C0282102,OMIM:302960	X	48385644	48385644	NM_006579.2:c.440G>A	NP_006570.1:p.Arg147His	NC_000023.10:g.48385644G>A	OMIM Allelic Variant:300205.0012	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.464_465delCT (p.Ser155Cysfs)	10682	EBP	Pathogenic	587783615	RCV000145940;	N	MedGen:C0282102,OMIM:302960	X	48385668	48385669	NM_006579.2:c.464_465delCT	NP_006570.1:p.Ser155Cysfs	NC_000023.10:g.48385668_48385669delCT	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.480T>G (p.Tyr160Ter)	10682	EBP	Pathogenic	587783616	RCV000145941;	N	MedGen:C0282102,OMIM:302960	X	48386632	48386632	NM_006579.2:c.480T>G	NP_006570.1:p.Tyr160Ter	NC_000023.10:g.48386632T>G	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.481G>A (p.Gly161Arg)	10682	EBP	Likely pathogenic	587783617	RCV000145942;	N	MedGen:C0282102,OMIM:302960	X	48386633	48386633	NM_006579.2:c.481G>A	NP_006570.1:p.Gly161Arg	NC_000023.10:g.48386633G>A	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.484dupG (p.Asp162Glyfs)	10682	EBP	Pathogenic	797045547	RCV000194874;	N	MedGen:C0282102,OMIM:302960	X	48386636	48386636	NM_006579.2:c.484dupG	NP_006570.1:p.Asp162Glyfs	NC_000023.10:g.48386636dupG	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.511C>T (p.Arg171Cys)	10682	EBP	Likely pathogenic	141925556	RCV000145943; RCV000171436;	N	MedGen:C0282102,OMIM:302960; MedGen:CN221809	X	48386663	48386663	NM_006579.2:c.511C>T	NP_006570.1:p.Arg171Cys	NC_000023.10:g.48386663C>T	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant; CN221809 not provided
NM_006579.2(EBP):c.523C>T (p.Gln175Ter)	10682	EBP	Pathogenic	104894793	RCV000012245;	N	MedGen:C0282102,OMIM:302960	X	48386675	48386675	NM_006579.2:c.523C>T	NP_006570.1:p.Gln175Ter	NC_000023.10:g.48386675C>T	OMIM Allelic Variant:300205.0010	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.527A>G (p.His176Arg)	10682	EBP	Likely pathogenic	587783618	RCV000145944;	N	MedGen:C0282102,OMIM:302960	X	48386679	48386679	NM_006579.2:c.527A>G	NP_006570.1:p.His176Arg	NC_000023.10:g.48386679A>G	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.587G>A (p.Trp196Ter)	10682	EBP	Pathogenic	104894794	RCV000012246;	N	MedGen:C0282102,OMIM:302960	X	48386739	48386739	NM_006579.2:c.587G>A	NP_006570.1:p.Trp196Ter	NC_000023.10:g.48386739G>A	OMIM Allelic Variant:300205.0011	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.632T>G (p.Leu211Arg)	10682	EBP	Likely pathogenic	587783619	RCV000145945;	N	MedGen:C0282102,OMIM:302960	X	48386784	48386784	NM_006579.2:c.632T>G	NP_006570.1:p.Leu211Arg	NC_000023.10:g.48386784T>G	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant
NM_006579.2(EBP):c.687_689delGAA (p.Lys229del)	10682	EBP	Uncertain significance	587783620	RCV000145946;	N	MedGen:C0282102,OMIM:302960	X	48386839	48386841	NM_006579.2:c.687_689delGAA	NP_006570.1:p.Lys229del	NC_000023.10:g.48386839_48386841delGAA	-	C0282102 302960 Chondrodysplasia punctata 2 X-linked dominant