ClinVar Miner

Variants from Center for Molecular Medicine, Children’s Hospital of Fudan University

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
94 114 11 0 1 219

Gene and significance breakdown #

Total genes and gene combinations: 114
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
KCNQ2 4 17 0 0 20
SMARCA4 1 7 2 0 10
CREBBP 8 0 0 0 8
FBP1 2 6 0 0 8
MAGEL2 2 6 0 0 8
PAH 8 0 0 0 8
LOXHD1 2 3 1 0 6
PPP2R1A 3 1 1 0 5
EBF3 0 3 1 0 4
MUSK 0 2 2 0 4
BICRA 1 1 1 0 3
MAGT1 2 1 0 0 3
SCN2A 0 3 0 0 3
TSC2 2 1 0 0 3
ALPL 0 2 0 0 2
AMPD2 1 0 1 0 2
BCL11B 2 0 0 0 2
CBS 0 2 0 0 2
CHD7 2 0 0 0 2
CHRNA4, KCNQ2 0 2 0 0 2
COG6 1 1 0 0 2
CPT2 0 2 0 0 2
EPS8 0 2 0 0 2
FIG4 2 0 0 0 2
GALC 0 1 0 1 2
GJB2 1 1 0 0 2
IFNGR1 1 1 0 0 2
IL10RA 2 0 0 0 2
IL10RA, LOC130006833 1 1 0 0 2
KAT6B 1 1 0 0 2
LIAS 0 2 0 0 2
MTOR 1 1 0 0 2
PCCA 2 0 0 0 2
PEX1 2 0 0 0 2
RPGRIP1L 0 2 0 0 2
RRM2B 1 1 0 0 2
SLC25A20 2 0 0 0 2
TBC1D24 0 2 0 0 2
TCIRG1 2 0 0 0 2
TH 2 0 0 0 2
ABAT 0 1 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BIRC7, CHRNA4, COL20A1, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, NKAIN4, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 1
AMT 0 1 0 0 1
AP2S1, ARHGAP35, BBC3, BICRA, C5AR1, C5AR2, CALM3, CCDC9, DACT3, DHX34, FKRP, GNG8, INAFM1, KPTN, MEIS3, NAPA, NPAS1, PPP5D1, PRKD2, PTGIR, SAE1, SLC1A5, SLC8A2, STRN4, TMEM160, ZC3H4, ZNF541 0 1 0 0 1
BCOR 1 0 0 0 1
BICRA, EHD2 0 1 0 0 1
BRAF 1 0 0 0 1
BTD 1 0 0 0 1
CAST, LOC101929710, PCSK1 1 0 0 0 1
CCDC39 0 1 0 0 1
CD40LG 1 0 0 0 1
CHRNA4, COL20A1, KCNQ2 0 1 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, SRMS 0 1 0 0 1
CHRNA4, EEF1A2, KCNQ2 0 1 0 0 1
COL4A1 1 0 0 0 1
CYBB 0 1 0 0 1
DNAH11 0 1 0 0 1
DNAH5 0 1 0 0 1
EARS2 1 0 0 0 1
EEF1A2, KCNQ2 0 1 0 0 1
EHMT1 1 0 0 0 1
ERBB3 0 1 0 0 1
EVC 1 0 0 0 1
FOXC2 1 0 0 0 1
GAA 1 0 0 0 1
GALC, LOC130056217 0 0 1 0 1
GATA3 1 0 0 0 1
GLDC 0 1 0 0 1
HSALR1, PIEZO1 0 1 0 0 1
IL7R 1 0 0 0 1
IVD 0 1 0 0 1
KMT2D 1 0 0 0 1
L1CAM 1 0 0 0 1
LIG4 1 0 0 0 1
LOC112552175, NDUFA11 0 1 0 0 1
LOC129390683, SLC12A6 1 0 0 0 1
LOC130068460, MAGT1 0 1 0 0 1
LZTR1 0 1 0 0 1
MAP2K1 1 0 0 0 1
NDUFA11 0 0 1 0 1
NF1 1 0 0 0 1
NIPBL 0 1 0 0 1
NKX2-5 1 0 0 0 1
NTRK1 0 1 0 0 1
OSGEP 0 1 0 0 1
PACS2 0 1 0 0 1
PAK3 0 1 0 0 1
PCCB 0 1 0 0 1
PDHA1 1 0 0 0 1
PIEZO1 0 1 0 0 1
PNPO 0 1 0 0 1
POGZ 1 0 0 0 1
PPP3CA 0 1 0 0 1
PREPL 1 0 0 0 1
PTEN 1 0 0 0 1
RAB11B 1 0 0 0 1
RAF1 0 1 0 0 1
RECQL4 1 0 0 0 1
RYR1 0 1 0 0 1
SCN5A 1 0 0 0 1
SERAC1 1 0 0 0 1
SFTPB 0 1 0 0 1
SH2D1A 1 0 0 0 1
SLC12A6 1 0 0 0 1
SLC27A4 0 1 0 0 1
SLC34A3 0 1 0 0 1
SOX5 1 0 0 0 1
STXBP1 1 0 0 0 1
TBX2 0 1 0 0 1
TBX5 1 0 0 0 1
TUBA1A 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 104
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2 25 0 0 27
Fructose-biphosphatase deficiency 2 6 0 0 8
Phenylketonuria 8 0 0 0 8
Rubinstein-Taybi syndrome due to CREBBP mutations 8 0 0 0 8
Schaaf-Yang syndrome 2 6 0 0 8
Autosomal recessive nonsyndromic hearing loss 77 2 3 1 0 6
Coffin-Siris syndrome 12 1 3 1 0 5
Houge-Janssens syndrome 2 3 1 1 0 5
Congenital myasthenic syndrome 9 0 2 2 0 4
Developmental and epileptic encephalopathy, 7 2 2 0 0 4
Hypotonia, ataxia, and delayed development syndrome 0 3 1 0 4
Inflammatory bowel disease 28 3 1 0 0 4
Intellectual disability, autosomal dominant 16 0 3 1 0 4
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2 2 0 0 4
Galactosylceramide beta-galactosidase deficiency 0 1 1 1 3
Propionic acidemia 2 1 0 0 3
Tuberous sclerosis 2 2 1 0 0 3
Agenesis of the corpus callosum with peripheral neuropathy 2 0 0 0 2
Autosomal recessive DOPA responsive dystonia 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 102 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 1 1 0 0 2
Autosomal recessive osteopetrosis 1 2 0 0 0 2
CHARGE association 2 0 0 0 2
COG6-ongenital disorder of glycosylation 1 1 0 0 2
Carnitine acylcarnitine translocase deficiency 2 0 0 0 2
Carnitine palmitoyl transferase II deficiency, neonatal form 0 2 0 0 2
Charcot-Marie-Tooth disease type 4J 2 0 0 0 2
Classic homocystinuria 0 2 0 0 2
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 2 0 0 2
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 0 2 0 0 2
Developmental and epileptic encephalopathy, 16 0 2 0 0 2
Global developmental delay 0 1 1 0 2
Immunodeficiency 27A 1 1 0 0 2
Infantile hypophosphatasia 0 2 0 0 2
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2 0 0 0 2
Lipoic acid synthetase deficiency 0 2 0 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 1 0 0 2
Meckel syndrome, type 5 0 2 0 0 2
Mitochondrial DNA depletion syndrome 8a 1 1 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 14 0 1 1 0 2
Non-ketotic hyperglycinemia 0 2 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 0 2
Pontocerebellar hypoplasia type 9 1 0 1 0 2
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 0 2 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 1
Atrial septal defect 7 1 0 0 0 1
Atrial septal defect; Delayed speech and language development; Ventricular septal defect 0 1 0 0 1
Autistic behavior; Intellectual disability 0 1 0 0 1
Baller-Gerold syndrome 1 0 0 0 1
Biotinidase deficiency 1 0 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 1
Central core myopathy 0 1 0 0 1
Cerebral palsy; Intellectual disability 1 0 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 1
DNA ligase IV deficiency 1 0 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 1
Developmental and epileptic encephalopathy, 66 0 1 0 0 1
Distichiasis-lymphedema syndrome 1 0 0 0 1
Ellis-van Creveld syndrome 1 0 0 0 1
Epileptic encephalopathy, infantile or early childhood, 1 0 1 0 0 1
Galloway-Mowat syndrome 3 0 1 0 0 1
Gamma-aminobutyric acid transaminase deficiency 0 1 0 0 1
Genitopatellar syndrome 0 1 0 0 1
Glycogen storage disease, type II 1 0 0 0 1
Granulomatous disease, chronic, X-linked 0 1 0 0 1
Hereditary insensitivity to pain with anhidrosis; Familial medullary thyroid carcinoma 0 1 0 0 1
Holt-Oram syndrome 1 0 0 0 1
Hyper-IgM syndrome type 1 1 0 0 0 1
Hypercalciuria 0 1 0 0 1
Hypoparathyroidism, deafness, renal disease syndrome 1 0 0 0 1
Ichthyosis prematurity syndrome 0 1 0 0 1
Immunodeficiency 104 1 0 0 0 1
Intellectual disability, X-linked 30 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 1
Isovaleryl-CoA dehydrogenase deficiency 0 1 0 0 1
Kabuki syndrome 1 1 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 1
LEOPARD syndrome 2; Noonan syndrome 5 0 1 0 0 1
Lamb-Shaffer syndrome 1 0 0 0 1
Lethal congenital contracture syndrome 2 0 1 0 0 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 0 0 0 1
Lissencephaly due to TUBA1A mutation 0 1 0 0 1
Long QT syndrome 3 1 0 0 0 1
Macrocephaly-autism syndrome 1 0 0 0 1
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 1 0 0 0 1
Myasthenic syndrome, congenital, 22 1 0 0 0 1
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 1 0 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 1
Noonan syndrome 2; Noonan syndrome 10 0 1 0 0 1
Noonan syndrome 7 1 0 0 0 1
Obesity due to prohormone convertase I deficiency 1 0 0 0 1
Oculofaciocardiodental syndrome 1 0 0 0 1
Primary ciliary dyskinesia 14 0 1 0 0 1
Primary ciliary dyskinesia 3 0 1 0 0 1
Primary ciliary dyskinesia 7 0 1 0 0 1
Pyridoxal phosphate-responsive seizures 0 1 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Seizure 0 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 1 0 1 0 0 1
Vertebral anomalies and variable endocrine and T-cell dysfunction 0 1 0 0 1
X-linked complicated corpus callosum dysgenesis 1 0 0 0 1
X-linked lymphoproliferative disease due to SH2D1A deficiency 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.