ClinVar Miner

Variants from Center for Reproductive Medicine, Peking University Third Hospital

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
18 19 19 0 0 56

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PIEZO1 0 1 4 5
BLTP1 1 2 1 4
CEP70 0 0 3 3
SLC26A3 3 0 0 3
C2CD3 0 2 0 2
CC2D2A 2 0 0 2
CEP170B 0 0 2 2
CEP290 2 0 0 2
CHRNG 0 2 0 2
COL11A2 0 1 1 2
CPLANE1 0 2 0 2
DYNC2H1 0 1 1 2
GLDN 1 1 0 2
HYLS1, PUS3 0 2 0 2
LAMA5 0 0 2 2
NODAL 1 0 1 2
POMT1 2 0 0 2
RAPSN 2 0 0 2
RYR1 1 1 0 2
SZT2 0 0 2 2
CCNH, RASA1 0 0 1 1
CHRNA1 0 0 1 1
DLL3 1 0 0 1
FOXP3 0 1 0 1
L1CAM 1 0 0 1
LOC100289580, PIEZO1 0 1 0 1
MAGEL2 1 0 0 1
NONO 0 1 0 1
ZRSR2 0 1 0 1

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance total
Hydrops fetalis 3 2 2 7
Heart, malformation of 1 1 3 5
Median cleft lip and palate 0 0 3 3
Anencephaly; Heart, malformation of; Polyhydramnios; Ankle flexion contracture; Aplasia/Hypoplasia of the cerebellum 0 2 0 2
Clubfoot; Arthrogryposis multiplex congenita; Severe hydrocephalus 0 2 0 2
Dysgenesis of the cerebellar vermis 2 0 0 2
Encephalocele; Polycystic kidney disease 2 0 0 2
Encephalocele; Polycystic kidney disease; Severe hydrocephalus 2 0 0 2
Encephalocele; Severe hydrocephalus 0 0 2 2
Heart, malformation of; Short ribs; Deformed rib cage; Abnormality of the lung; Short long bone 0 1 1 2
Heart, malformation of; Thickened nuchal skin fold; Cystic hygroma; Short long bone 0 1 1 2
Hemivertebrae; Renal agenesis; Right aortic arch 1 0 1 2
Holoprosencephaly sequence; Severe hydrocephalus 0 0 2 2
Polydactyly; Encephalocele; Dysgenesis of the cerebellar vermis; Median cleft lip and palate 0 2 0 2
Polyhydramnios; Intestinal obstruction; Hydrops fetalis 2 0 0 2
Polyhydramnios; Multiple joint contractures 1 1 0 2
Polyhydramnios; Thickened nuchal skin fold; Hydrops fetalis 0 0 2 2
Rudimentary fibula; Ankle flexion contracture 0 2 0 2
Scoliosis; Arthrogryposis-like hand anomaly; Ankle flexion contracture 0 2 0 2
Thickened nuchal skin fold; Hydrops fetalis 0 2 0 2
Ambiguous genitalia; Generalized hypotonia; Ventriculomegaly; Multiple joint contractures 1 0 0 1
Cerebral venous angioma; Hydrops fetalis 0 0 1 1
Hemivertebrae; Rib fusion 1 0 0 1
Holoprosencephaly sequence; Heart, malformation of; Severe hydrocephalus; Median cleft lip and palate 0 1 0 1
Pleural effusion; Fetal ascites; Hydrops fetalis 0 0 1 1
Polyhydramnios; Gastrointestinal obstruction; Hydrops fetalis 1 0 0 1
Severe hydrocephalus; Hydrops fetalis 1 0 0 1

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