Beijing Key Laboratory for Genetic Research of Skeletal Deformity (Peking Union Medical College Hospital), DISCO-PUMCH

General information

Beijing Key Laboratory for Genetic Research of Skeletal Deformity, DISCO-PUMCH
Peking Union Medical College Hospital
beijing
Beijing
China - 100730

Organization ID: 506437

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 155

Gene

GeneSubmissionsLast Updated
ACAN3Jan 21, 2021
AMMECR11Jan 21, 2021
ANKRD112Jan 21, 2021
AQP21Jan 21, 2021
ARID1B1Jan 21, 2021
ASPM1Jan 21, 2021
ASXL12Jan 21, 2021
AVPR21Jan 21, 2021
BLM3Jan 21, 2021
CDH21Feb 19, 2018
COL10A11Jan 21, 2021
COL11A12Jan 21, 2021
COL2A12Jan 21, 2021
COL6A31Jan 21, 2021
COMP2Jan 21, 2021
CTCF1Jan 21, 2021
CUL73Jan 21, 2021
DMD1Jan 21, 2021
EGFR1Feb 19, 2018
ENG1Feb 19, 2018
ERCC61Jan 21, 2021
EVC1Jan 21, 2021
EXT11Jan 21, 2021
FBN112Jan 21, 2021
FGFR11Jan 21, 2021
FGFR32Jan 21, 2021
GALNS1Jan 21, 2021
GH-LCR2Jan 21, 2021
GH12Jan 21, 2021
GHRHR2Jan 21, 2021
GNPTAB1Jan 21, 2021
IDS3Jan 21, 2021
IGF1R1Jan 21, 2021
IL17RD1Feb 19, 2018
KMT2A1Jan 21, 2021
LEMD31Feb 19, 2018
LOC1060501021Jan 21, 2021
MAP2K11Jan 21, 2021
MAP4K41Feb 19, 2018
MMP131Jan 21, 2021
MYH310Sep 13, 2021
NF16Jan 21, 2021
NPR22Jan 21, 2021
NR0B12Jan 21, 2021
NRIP3-DT1Feb 19, 2018
NSD11Jan 21, 2021
NT5DC11Jan 21, 2021
OBSL11Jan 21, 2021
OFD11Jan 21, 2021
ORC11Jan 21, 2021
PHEX3Jan 21, 2021
PIEZO21Jan 21, 2021
PITPNM31Feb 19, 2018
PLA2G61Jan 21, 2021
PORCN1Jan 21, 2021
POU1F12Jan 21, 2021
PREX21Feb 19, 2018
PTPN117Jan 21, 2021
RAF12Jan 21, 2021
RECQL41Jan 21, 2021
RIT11Jan 21, 2021
ROR212Mar 3, 2021
SARS11Feb 19, 2018
SCUBE21Feb 19, 2018
SETD51Jan 21, 2021
SLC26A41Jan 21, 2021
SLC7A71Jan 21, 2021
SOS21Jan 21, 2021
SPRED11Jan 21, 2021
SRCAP2Jan 21, 2021
SRD5A21Jan 21, 2021
STAT5B1Jan 21, 2021
SUCLG11Jan 21, 2021
SYN31Feb 19, 2018
TBX613Aug 13, 2019
TIMP31Feb 19, 2018
TINF21Jan 21, 2021
TMEM671Jan 21, 2021
TRAPPC21Jan 21, 2021
TRPS11Jan 21, 2021
VPS13B1Jan 21, 2021
ZFYVE161Feb 19, 2018
ZMYND111Jan 21, 2021

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Jan 21, 2021
Autosomal dominant isolated somatotropin deficiency2Jan 21, 2021
Bloom syndrome3Jan 21, 2021
Bohring-Opitz syndrome2Jan 21, 2021
Brachydactyly type B11Jan 21, 2021
Cardiofaciocutaneous syndrome 31Jan 21, 2021
Cerebral arteriovenous malformation12Feb 19, 2018
Cerebrooculofacioskeletal syndrome 11Jan 21, 2021
Coffin-Siris syndrome 11Jan 21, 2021
Cohen syndrome1Jan 21, 2021
Congenital adrenal hypoplasia, X-linked2Jan 21, 2021
Congenital scoliosis8Jun 12, 2019
Curry-Hall syndrome1Jan 21, 2021
Duchenne muscular dystrophy1Jan 21, 2021
Dyskeratosis congenita, autosomal dominant, 31Jan 21, 2021
Familial X-linked hypophosphatemic vitamin D refractory rickets3Jan 21, 2021
Floating-Harbor syndrome2Jan 21, 2021
Focal dermal hypoplasia1Jan 21, 2021
Geleophysic dysplasia 21Jan 21, 2021
Gordon syndrome1Jan 21, 2021
Growth delay due to insulin-like growth factor I resistance1Jan 21, 2021
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1Jan 21, 2021
Hypochondroplasia2Jan 21, 2021
Hypogonadotropic hypogonadism 2 with or without anosmia1Jan 21, 2021
Infantile neuroaxonal dystrophy1Jan 21, 2021
Isolated growth hormone deficiency, type 42Jan 21, 2021
Joubert syndrome 61Jan 21, 2021
KBG syndrome2Jan 21, 2021
Legius syndrome1Jan 21, 2021
Lysinuric protein intolerance1Jan 21, 2021
MASS syndrome1Aug 18, 2018
MYH3-Related Disorders10Sep 13, 2021
Marfan lipodystrophy syndrome1Aug 18, 2018
Marfan syndrome1Aug 18, 2018
Marshall syndrome2Jan 21, 2021
Meier-Gorlin syndrome 11Jan 21, 2021
Mental retardation, autosomal dominant 211Jan 21, 2021
Mental retardation, autosomal dominant 231Jan 21, 2021
Mental retardation, autosomal dominant 301Jan 21, 2021
Metaphyseal chondrodysplasia, Schmid type1Jan 21, 2021
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1Jan 21, 2021
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1Jan 21, 2021
Mucopolysaccharidosis, MPS-II3Jan 21, 2021
Mucopolysaccharidosis, MPS-IV-A1Jan 21, 2021
Multiple congenital exostosis1Jan 21, 2021
Multiple epiphyseal dysplasia 11Apr 16, 2020
Nephrogenic diabetes insipidus, X-linked1Jan 21, 2021
Nephrogenic diabetes insipidus, autosomal1Jan 21, 2021
Neurofibromatosis, type 16Jan 21, 2021
Noonan syndrome 17Jan 21, 2021
Noonan syndrome 52Jan 21, 2021
Noonan syndrome 81Jan 21, 2021
Noonan syndrome 91Jan 21, 2021
Orofaciodigital syndrome I1Jan 21, 2021
Osteochondritis dissecans3Jan 21, 2021
Pendred syndrome1Jan 21, 2021
Pituitary hormone deficiency, combined, 12Jan 21, 2021
Primary autosomal recessive microcephaly 51Jan 21, 2021
Pseudo-Hurler polydystrophy1Jan 21, 2021
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1Jan 21, 2021
Rothmund-Thomson syndrome type 21Jan 21, 2021
Scoliosis13Aug 13, 2019
Short stature11Mar 3, 2021
Short stature with nonspecific skeletal abnormalities2Jan 21, 2021
Sotos syndrome 11Jan 21, 2021
Spondyloepimetaphyseal dysplasia, Missouri type1Jan 21, 2021
Spondyloepiphyseal dysplasia congenita1Jan 21, 2021
Spondyloepiphyseal dysplasia tarda1Jan 21, 2021
Spondyloperipheral dysplasia-short ulna syndrome1Jan 21, 2021
Three M syndrome 13Jan 21, 2021
Three M syndrome 21Jan 21, 2021
Trichorhinophalangeal dysplasia type I1Jan 21, 2021
Ullrich congenital muscular dystrophy 11Jan 21, 2021
Wiedemann-Steiner syndrome1Jan 21, 2021
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