ClinVar Miner

Variants from Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province

Location: China  Primary collection method: clinical testing
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
32 21 2 0 0 55

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL1A1 3 1 0 4
FGFR3 4 0 0 4
BBS2 1 1 0 2
CEP290 2 0 0 2
CPLANE1 0 2 0 2
INVS 2 0 0 2
LBR 1 1 0 2
MKS1 0 1 1 2
MMP9 0 2 0 2
NPHP3, NPHP3-ACAD11 2 0 0 2
PKD1 1 1 0 2
TMEM67 0 1 1 2
TSC2 2 0 0 2
TTC21B 0 2 0 2
TTC8 2 0 0 2
TTN 2 0 0 2
ARID1B 1 0 0 1
CHD7, LOC126860403 1 0 0 1
COL11A2 0 1 0 1
EBP 0 1 0 1
EP300 1 0 0 1
EYA1 0 1 0 1
FGFR1 0 1 0 1
GLI3 1 0 0 1
GREB1L 0 1 0 1
HNF1B 0 1 0 1
KMT2D 1 0 0 1
L1CAM 0 1 0 1
MYH3 0 1 0 1
PDHA1 0 1 0 1
RAF1 1 0 0 1
RPS19 1 0 0 1
SMPD4 1 0 0 1
SOS1 1 0 0 1
TRIP12 1 0 0 1

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance total
Achondroplasia 2 0 0 2
Asphyxiating thoracic dystrophy 4 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 2 0 0 2
Bardet-Biedl syndrome 2 1 1 0 2
Bardet-Biedl syndrome 8 2 0 0 2
Greenberg dysplasia 1 1 0 2
Infantile nephronophthisis 2 0 0 2
Joubert syndrome 17 0 2 0 2
Joubert syndrome 5 2 0 0 2
Meckel syndrome, type 1 0 1 1 2
Meckel syndrome, type 3 0 1 1 2
Metaphyseal anadysplasia 2 0 2 0 2
NPHP3-related Meckel-like syndrome 2 0 0 2
Osteogenesis imperfecta type I 1 1 0 2
Osteogenesis imperfecta, perinatal lethal 2 0 0 2
Polycystic kidney disease, adult type 1 1 0 2
Thanatophoric dysplasia type 1 2 0 0 2
Tuberous sclerosis 2 2 0 0 2
CHARGE association 1 0 0 1
Chondrodysplasia punctata 2 X-linked dominant 0 1 0 1
Clark-Baraitser syndrome 1 0 0 1
Coffin-Siris syndrome 1 1 0 0 1
Diamond-Blackfan anemia 1 1 0 0 1
Fibrochondrogenesis 2 0 1 0 1
Freeman-Sheldon syndrome 0 1 0 1
Greig cephalopolysyndactyly syndrome 1 0 0 1
Hartsfield-Bixler-Demyer syndrome 0 1 0 1
Kabuki syndrome 1 1 0 0 1
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 1 0 0 1
Noonan syndrome 4 1 0 0 1
Noonan syndrome 5 1 0 0 1
Otofaciocervical syndrome 1 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 1
Renal cysts and diabetes syndrome 0 1 0 1
Renal hypodysplasia/aplasia 3 0 1 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 1
X-linked hydrocephalus syndrome 0 1 0 1

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