ClinVar Miner

Variants from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

Location: China  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
68 64 23 0 0 154

Gene and significance breakdown #

Total genes and gene combinations: 80
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TBX6 3 3 7 13
FBN1 4 2 6 12
ROR2 0 2 10 11
MYH3 0 9 0 9
PTPN11 4 3 0 7
NF1 5 1 0 6
ACAN 2 1 0 3
BLM 3 0 0 3
CUL7 2 1 0 3
PHEX 3 0 0 3
ANKRD11 2 0 0 2
ASXL1 0 2 0 2
COL11A1 1 1 0 2
COL2A1 0 2 0 2
COMP 1 1 0 2
FGFR3 1 1 0 2
GH-LCR, GH1 0 2 0 2
GHRHR 0 2 0 2
IDS 1 1 0 2
NPR2 0 2 0 2
NR0B1 2 0 0 2
POU1F1 0 2 0 2
RAF1 1 1 0 2
SRCAP 2 0 0 2
AMMECR1 0 1 0 1
AQP2 1 0 0 1
ARID1B 1 0 0 1
ASPM 1 0 0 1
AVPR2 1 0 0 1
CDH2 0 1 0 1
COL10A1, NT5DC1 0 1 0 1
COL6A3 1 0 0 1
CTCF 1 0 0 1
DMD 1 0 0 1
EGFR 0 1 0 1
ENG 1 0 0 1
ERCC6 1 0 0 1
EVC 0 1 0 1
EXT1 1 0 0 1
FGFR1 0 1 0 1
GALNS 0 1 0 1
GNPTAB 1 0 0 1
IDS, LOC106050102 1 0 0 1
IGF1R 0 1 0 1
IL17RD 0 1 0 1
KMT2A 1 0 0 1
LEMD3 1 0 0 1
LOC123956210, SLC26A4 0 1 0 1
LOC126807619, NSD1 1 0 0 1
LOC126861318, MMP13 0 1 0 1
LOC130060295, MYH3 0 1 0 1
MAP2K1 0 1 0 1
MAP4K4 0 1 0 1
NRIP3-DT, SCUBE2 0 1 0 1
OBSL1 1 0 0 1
OFD1 1 0 0 1
OFD1, TRAPPC2 0 1 0 1
ORC1 0 1 0 1
PIEZO2 0 1 0 1
PITPNM3 1 0 0 1
PLA2G6 1 0 0 1
PORCN 1 0 0 1
PREX2 0 1 0 1
RECQL4 1 0 0 1
RIT1 1 0 0 1
SARS1 1 0 0 1
SETD5 1 0 0 1
SLC7A7 1 0 0 1
SOS2 1 0 0 1
SPRED1 1 0 0 1
SRD5A2 1 0 0 1
STAT5B 0 1 0 1
SUCLG1 1 0 0 1
SYN3, TIMP3 0 1 0 1
TINF2 0 1 0 1
TMEM67 0 1 0 1
TRPS1 0 1 0 1
VPS13B 1 0 0 1
ZFYVE16 0 1 0 1
ZMYND11 1 0 0 1

Condition and significance breakdown #

Total conditions: 74
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Condition pathogenic likely pathogenic uncertain significance total
Scoliosis 3 3 7 13
Cerebral arteriovenous malformation 4 8 0 12
Short stature 0 1 10 11
MYH3-Related Disorders 0 10 0 10
Congenital scoliosis 2 0 6 8
Noonan syndrome 1 4 3 0 7
Neurofibromatosis, type 1 5 1 0 6
3M syndrome 1 2 1 0 3
Bloom syndrome 3 0 0 3
Familial X-linked hypophosphatemic vitamin D refractory rickets 3 0 0 3
Mucopolysaccharidosis, MPS-II 2 1 0 3
Osteochondritis dissecans 2 1 0 3
Autosomal dominant isolated somatotropin deficiency 0 2 0 2
Bohring-Opitz syndrome 0 2 0 2
Congenital adrenal hypoplasia, X-linked 2 0 0 2
Floating-Harbor syndrome 2 0 0 2
Hypochondroplasia 1 1 0 2
Isolated growth hormone deficiency, type 4 0 2 0 2
KBG syndrome 2 0 0 2
Marshall syndrome 1 1 0 2
Noonan syndrome 5 1 1 0 2
Pituitary hormone deficiency, combined, 1 0 2 0 2
Short stature with nonspecific skeletal abnormalities 0 2 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 0 0 1
3M syndrome 2 1 0 0 1
Brachydactyly type B1 0 1 0 1
Cardiofaciocutaneous syndrome 3 0 1 0 1
Cerebrooculofacioskeletal syndrome 1 1 0 0 1
Coffin-Siris syndrome 1 1 0 0 1
Cohen syndrome 1 0 0 1
Curry-Hall syndrome 0 1 0 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 1
Diabetes insipidus, nephrogenic, autosomal 1 0 0 1
Duchenne muscular dystrophy 1 0 0 1
Dyskeratosis congenita, autosomal dominant 3 0 1 0 1
Focal dermal hypoplasia 1 0 0 1
Geleophysic dysplasia 2 0 1 0 1
Gordon syndrome 0 1 0 1
Growth delay due to insulin-like growth factor I resistance 0 1 0 1
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 0 1 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 1 0 1
Infantile neuroaxonal dystrophy 1 0 0 1
Intellectual disability, autosomal dominant 30 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 1
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 1 0 0 1
Joubert syndrome 6 0 1 0 1
Legius syndrome 1 0 0 1
Lysinuric protein intolerance 1 0 0 1
MASS syndrome 0 1 0 1
Marfan syndrome 1 0 0 1
Meier-Gorlin syndrome 1 0 1 0 1
Metaphyseal chondrodysplasia, Schmid type 0 1 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 1 0 1
Mitochondrial DNA depletion syndrome 9 1 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 1 0 1
Multiple congenital exostosis 1 0 0 1
Multiple epiphyseal dysplasia type 1 1 0 0 1
Noonan syndrome 8 1 0 0 1
Noonan syndrome 9 1 0 0 1
Orofaciodigital syndrome I 1 0 0 1
Pendred syndrome 0 1 0 1
Progeroid and marfanoid aspect-lipodystrophy syndrome 1 0 0 1
Pseudo-Hurler polydystrophy 1 0 0 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 0 1 0 1
Rothmund-Thomson syndrome type 2 1 0 0 1
Sotos syndrome 1 0 0 1
Spondyloepimetaphyseal dysplasia, Missouri type 0 1 0 1
Spondyloepiphyseal dysplasia congenita 0 1 0 1
Spondyloepiphyseal dysplasia tarda 0 1 0 1
Spondyloperipheral dysplasia 0 1 0 1
Trichorhinophalangeal dysplasia type I 0 1 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 1

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