ClinVar Miner

Variants from Reproductive Health Research and Development, BGI Genomics

Location: China  Primary collection method: curation
Minimum submission review status: Collection method:
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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 risk factor total
97 29 41 7 39 5 218

Gene and significance breakdown #

Total genes and gene combinations: 176
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
GATA4 0 0 0 0 8 0 8
ABCC6 0 0 1 4 1 0 6
CD36 2 2 0 0 0 0 4
G6PD 3 0 0 0 1 0 4
CCDST, FLG 3 0 0 0 0 0 3
MPO 1 0 2 0 0 0 3
ACADS 2 0 0 0 0 0 2
ANK1 0 0 0 0 2 0 2
APOC2, APOC4-APOC2 0 0 1 0 1 0 2
CRB2 0 1 1 0 0 0 2
CYP21A2, LOC106780800 2 0 0 0 0 0 2
DUOX2 2 0 0 0 0 0 2
EYS 2 0 0 0 0 0 2
F11 2 0 0 0 0 0 2
FLG 2 0 0 0 0 0 2
GNRHR 2 0 0 0 0 0 2
HBB, LOC106099062, LOC107133510 2 0 0 0 0 0 2
KIRREL2, NPHS1 1 0 1 0 0 0 2
MYOC 2 0 0 0 0 0 2
PADI3 2 0 0 0 0 0 2
PLA2G7 0 0 0 0 0 2 2
SHOX 0 0 0 0 2 0 2
SLC3A1 2 0 0 0 0 0 2
SLC7A14 1 0 1 0 0 0 2
TYR 2 0 0 0 0 0 2
ZEB1 0 0 1 0 1 0 2
ABCA4 1 0 0 0 0 0 1
ABCA4, LOC126805794 0 0 1 0 0 0 1
ABCC2 0 1 0 0 0 0 1
ABCC8 1 0 0 0 0 0 1
ACADM 1 0 0 0 0 0 1
ADAMTS13 0 0 0 0 1 0 1
AGA 0 1 0 0 0 0 1
AGBL1 0 0 1 0 0 0 1
AIPL1 0 0 1 0 0 0 1
ALPL 1 0 0 0 0 0 1
ANKS6 0 1 0 0 0 0 1
ANO10 0 1 0 0 0 0 1
ANO5 1 0 0 0 0 0 1
APOE 0 1 0 0 0 0 1
ASPA, SPATA22 0 1 0 0 0 0 1
ATP7B 1 0 0 0 0 0 1
BCHE 0 0 0 0 0 1 1
BCKDHB 1 0 0 0 0 0 1
BCL11A 0 0 0 0 1 0 1
BLK 0 0 0 0 1 0 1
C2 1 0 0 0 0 0 1
C6 1 0 0 0 0 0 1
C9 1 0 0 0 0 0 1
CCDC107, RMRP 1 0 0 0 0 0 1
CD4 0 0 0 0 1 0 1
CERS1, GDF1 0 1 0 0 0 0 1
CLRN1 1 0 0 0 0 0 1
CNGA3 1 0 0 0 0 0 1
CPT2 1 0 0 0 0 0 1
CRADD 0 1 0 0 0 0 1
CRYGB, LOC100507443 0 0 0 0 1 0 1
CST3, LOC130065547 0 0 0 0 1 0 1
DBNL, LOC129998343, PGAM2 1 0 0 0 0 0 1
DCHS1 0 0 1 0 0 0 1
DCPS, GSEC 0 1 0 0 0 0 1
DDX11 0 1 0 0 0 0 1
DHCR7 1 0 0 0 0 0 1
DHDDS 1 0 0 0 0 0 1
DLD 1 0 0 0 0 0 1
DUOXA2 0 0 1 0 0 0 1
DYNC2H1 0 0 1 0 0 0 1
DYNC2I1 0 0 1 0 0 0 1
EDA 0 0 0 0 1 0 1
ELP1 1 0 0 0 0 0 1
ERCC1, POLR1G 0 0 0 0 1 0 1
ERCC2 0 0 1 0 0 0 1
ERCC3 0 1 0 0 0 0 1
EYS, PHF3 1 0 0 0 0 0 1
F2 0 0 0 0 0 1 1
FANCC 1 0 0 0 0 0 1
FBP1 0 0 1 0 0 0 1
FCN3 0 1 0 0 0 0 1
FKBP10 0 0 0 0 1 0 1
FKTN 1 0 0 0 0 0 1
FOXC1, LOC129995600 0 0 0 0 1 0 1
FSHR 1 0 0 0 0 0 1
G6PC1 1 0 0 0 0 0 1
GAA 1 0 0 0 0 0 1
GATA6 0 1 0 0 0 0 1
GBE1 1 0 0 0 0 0 1
GCDH 0 0 0 0 1 0 1
GLE1 1 0 0 0 0 0 1
GNE 0 1 0 0 0 0 1
GPIHBP1 0 1 0 0 0 0 1
GRIP1 0 0 1 0 0 0 1
HBD, LOC106099063 1 0 0 0 0 0 1
HEXA 1 0 0 0 0 0 1
HOGA1 1 0 0 0 0 0 1
HTT 0 0 0 0 1 0 1
HYLS1, PUS3 1 0 0 0 0 0 1
IER3IP1 0 0 0 1 0 0 1
IL36RN 1 0 0 0 0 0 1
KIAA0586 1 0 0 0 0 0 1
KIZ, LOC130065509 1 0 0 0 0 0 1
KLHL10 0 0 1 0 0 0 1
KLKB1 0 0 0 0 1 0 1
KRT8 0 0 0 0 0 1 1
LCT 1 0 0 0 0 0 1
LDLRAP1 0 0 0 0 1 0 1
LIPC 0 1 0 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 0 1
LOC102723692, XYLT1 0 0 1 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 0 1
LOC129931299, WARS2 0 1 0 0 0 0 1
LOC130004821, NANOS1 0 0 0 1 0 0 1
LPL 1 0 0 0 0 0 1
LTBP2 0 0 1 0 0 0 1
MEFV 1 0 0 0 0 0 1
MMP9 0 0 1 0 0 0 1
MPL 1 0 0 0 0 0 1
MYH3 1 0 0 0 0 0 1
NCAPH2, SCO2 0 1 0 0 0 0 1
NOBOX 0 1 0 0 0 0 1
NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
NTF4 0 0 1 0 0 0 1
OCA2 1 0 0 0 0 0 1
OPLAH 0 0 0 0 1 0 1
OTOF 0 1 0 0 0 0 1
PAH 0 0 0 0 1 0 1
PDE11A 0 0 1 0 0 0 1
PGAP3 0 0 1 0 0 0 1
PIBF1 0 0 1 0 0 0 1
PIK3R5 0 0 1 0 0 0 1
PKD1 0 0 1 0 0 0 1
PKHD1 1 0 0 0 0 0 1
PKLR 1 0 0 0 0 0 1
PLG 1 0 0 0 0 0 1
PMM2 1 0 0 0 0 0 1
POLH, POLR1C 0 0 1 0 0 0 1
PPOX 0 0 0 0 1 0 1
PPT1 1 0 0 0 0 0 1
PRIMPOL 0 0 1 0 0 0 1
PRLR 0 0 0 0 1 0 1
RNASEL 0 1 0 0 0 0 1
RUSF1, SLC5A2 0 0 1 0 0 0 1
SBDS 1 0 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 1
SERPINA6 0 1 0 0 0 0 1
SERPINB7 1 0 0 0 0 0 1
SERPINB8 0 1 0 0 0 0 1
SLC17A5 1 0 0 0 0 0 1
SLC26A2 1 0 0 0 0 0 1
SLC26A3 1 0 0 0 0 0 1
SLC34A1 0 1 0 0 0 0 1
SLC34A3 0 0 1 0 0 0 1
SLC36A2 0 0 0 0 1 0 1
SLC38A8 0 0 1 0 0 0 1
SLC4A1 0 0 1 0 0 0 1
SLC7A9 1 0 0 0 0 0 1
SMN1 1 0 0 0 0 0 1
SOHLH1 1 0 0 0 0 0 1
SPINK5 1 0 0 0 0 0 1
SPRY4 0 0 1 0 0 0 1
SRD5A2 1 0 0 0 0 0 1
STOX1 0 0 0 0 1 0 1
TBXAS1 0 0 1 0 0 0 1
TMEM216 0 0 0 1 0 0 1
TNXB 0 0 1 0 0 0 1
TREH 0 0 1 0 0 0 1
TSFM 1 0 0 0 0 0 1
TTR 1 0 0 0 0 0 1
UBQLN2 0 1 0 0 0 0 1
VPS13B 0 0 0 0 1 0 1
VWF 1 0 0 0 0 0 1
WFS1 0 0 0 0 1 0 1
WNT10A 0 1 0 0 0 0 1
XPC 0 0 1 0 0 0 1
ZC3H14 0 0 0 0 1 0 1
ZFPM2 0 0 1 0 0 0 1
ZNF469 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 172
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Congenital heart disease 0 0 0 0 8 0 8
Autosomal recessive inherited pseudoxanthoma elasticum 0 1 1 4 1 0 7
Ichthyosis vulgaris 5 0 0 0 0 0 5
G6PD deficiency 3 0 0 0 1 0 4
Platelet-type bleeding disorder 10 2 2 0 0 0 0 4
Cystinuria 3 0 0 0 0 0 3
Myeloperoxidase deficiency 1 0 2 0 0 0 3
Retinitis pigmentosa 25 3 0 0 0 0 0 3
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 0 0 0 0 0 2
Corneal dystrophy, Fuchs endothelial, 6 0 0 1 0 1 0 2
Deficiency of butyryl-CoA dehydrogenase 2 0 0 0 0 0 2
Familial aplasia of the vermis 1 0 1 0 0 0 2
Familial apolipoprotein C-II deficiency 0 0 1 0 1 0 2
Finnish congenital nephrotic syndrome 1 0 1 0 0 0 2
Glaucoma 1, open angle, A 2 0 0 0 0 0 2
Hereditary factor XI deficiency disease 2 0 0 0 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia 2 0 0 0 0 0 2
Platelet-activating factor acetylhydrolase deficiency 0 0 0 0 0 2 2
Retinitis pigmentosa 68 1 0 1 0 0 0 2
SHOX-related short stature 0 0 0 0 2 0 2
Severe early-childhood-onset retinal dystrophy 1 0 1 0 0 0 2
Spherocytosis, type 1, autosomal recessive 0 0 0 0 2 0 2
Tyrosinase-negative oculocutaneous albinism 2 0 0 0 0 0 2
Uncombable hair syndrome 1 2 0 0 0 0 0 2
beta Thalassemia 2 0 0 0 0 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 0 0 0 0 0 1
5-Oxoprolinase deficiency 0 0 0 0 1 0 1
Abnormal brain morphology 0 0 1 0 0 0 1
Acanthocytosis 0 0 1 0 0 0 1
Achromatopsia 2 1 0 0 0 0 0 1
Adult polyglucosan body disease 1 0 0 0 0 0 1
Age related macular degeneration 11 0 0 0 0 1 0 1
Al-Raqad syndrome 0 1 0 0 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 0 0 1
Amyotrophic lateral sclerosis type 15 0 1 0 0 0 0 1
Anterior segment dysgenesis 3 0 0 0 0 1 0 1
Aspartylglucosaminuria 0 1 0 0 0 0 1
Asphyxiating thoracic dystrophy 3 0 0 1 0 0 0 1
Ataxia with oculomotor apraxia type 3 0 0 1 0 0 0 1
Atelosteogenesis type II 1 0 0 0 0 0 1
Atrial septal defect 9 0 1 0 0 0 0 1
Autosomal recessive hypophosphatemic bone disease 0 0 1 0 0 0 1
Autosomal recessive polycystic kidney disease 1 0 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 10 0 1 0 0 0 0 1
CONE-ROD DYSTROPHY, AIPL1-RELATED 0 0 1 0 0 0 1
Carnitine palmitoyltransferase II deficiency 1 0 0 0 0 0 1
Cataract 39 multiple types 0 0 0 0 1 0 1
Cerebrooculofacioskeletal syndrome 4 0 0 0 0 1 0 1
Chronic granulomatous disease due to deficiency of NCF-1 1 0 0 0 0 0 1
Cirrhosis, cryptogenic 0 0 0 0 0 1 1
Cohen syndrome 0 0 0 0 1 0 1
Complement component 2 deficiency 1 0 0 0 0 0 1
Complement component 9 deficiency 1 0 0 0 0 0 1
Congenital amegakaryocytic thrombocytopenia 1 0 0 0 0 0 1
Congenital disorder of glycosylation 1 0 0 0 0 0 1
Congenital hypothyroidism 1 0 0 0 0 0 1
Congenital lactase deficiency 1 0 0 0 0 0 1
Congenital prothrombin deficiency 0 0 0 0 0 1 1
Congenital secretory diarrhea, chloride type 1 0 0 0 0 0 1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 0 0 0 0 0 1
Corneal dystrophy, Fuchs endothelial, 8 0 0 1 0 0 0 1
Corticosteroid-binding globulin deficiency 0 1 0 0 0 0 1
Deficiency of butyrylcholinesterase 0 0 0 0 0 1 1
Desbuquois dysplasia 2 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 44 1 0 0 0 0 0 1
Diabetes mellitus, noninsulin-dependent, association with 0 0 0 0 1 0 1
Diaphragmatic hernia 3 0 0 1 0 0 0 1
Dias-Logan syndrome 0 0 0 0 1 0 1
Ehlers-Danlos syndrome, type 3 0 0 1 0 0 0 1
Epilepsy 0 0 0 1 0 0 1
Familial Mediterranean fever 1 0 0 0 0 0 1
Familial amyloid neuropathy 1 0 0 0 0 0 1
Familial dysautonomia 1 0 0 0 0 0 1
Familial hyperinsulinism 1 0 0 0 0 0 1
Familial renal glucosuria 0 0 1 0 0 0 1
Familial type 3 hyperlipoproteinemia 0 1 0 0 0 0 1
Fanconi anemia 1 0 0 0 0 0 1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 1 0 0 0 0 0 1
Focal segmental glomerulosclerosis 9 0 0 1 0 0 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 0 1 0 0 0 1
Fructose-biphosphatase deficiency 0 0 1 0 0 0 1
GNE myopathy 0 1 0 0 0 0 1
Generalized pustular psoriasis 1 0 0 0 0 0 1
Ghosal hematodiaphyseal syndrome 0 0 1 0 0 0 1
Glaucoma 1, open angle, O 0 0 1 0 0 0 1
Glutaric aciduria, type 1 0 0 0 0 1 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 0 0 1
Glycogen storage disease type X 1 0 0 0 0 0 1
Glycogen storage disease, type II 1 0 0 0 0 0 1
Heart, malformation of 0 1 0 0 0 0 1
Hydrolethalus syndrome 1 0 0 0 0 0 1
Hypercalcemia, infantile, 2 0 1 0 0 0 0 1
Hypercholesterolemia, familial, 4 0 0 0 0 1 0 1
Hyperglycinuria 0 0 0 0 1 0 1
Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 1 0 0 0 0 1
Hyperlipidemia, familial combined, LPL related 1 0 0 0 0 0 1
Hyperlipoproteinemia, type 1D 0 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 17 with or without anosmia 0 0 1 0 0 0 1
Hypophosphatasia 1 0 0 0 0 0 1
Immunodeficiency due to a late component of complement deficiency 1 0 0 0 0 0 1
Immunodeficiency due to ficolin3 deficiency 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 34 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 56 0 0 0 0 1 0 1
Joubert syndrome 2 0 0 0 1 0 0 1
Keratoconus 0 0 1 0 0 0 1
Lethal congenital contracture syndrome 1 1 0 0 0 0 0 1
Lopes-Maciel-Rodan syndrome 0 0 0 0 1 0 1
Malignant tumor of prostate 0 1 0 0 0 0 1
Maple syrup urine disease 1 0 0 0 0 0 1
Maturity-onset diabetes of the young type 11 0 0 0 0 1 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 0 0 1
Metaphyseal anadysplasia 2 0 0 1 0 0 0 1
Metaphyseal dysplasia without hypotrichosis 1 0 0 0 0 0 1
Miyoshi muscular dystrophy 3 1 0 0 0 0 0 1
Multiple fibroadenoma of the breast 0 0 0 0 1 0 1
Myopia 22, autosomal dominant 0 0 1 0 0 0 1
Nephronophthisis 16 0 1 0 0 0 0 1
Netherton syndrome 1 0 0 0 0 0 1
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 1 1 0 0 0 0 0 1
Nonsyndromic genetic hearing loss 0 1 0 0 0 0 1
Okt4 epitope deficiency 0 0 0 0 1 0 1
Osteogenesis imperfecta type 11 0 0 0 0 1 0 1
Ovarian dysgenesis 1 1 0 0 0 0 0 1
Palmoplantar keratoderma, Nagashima type 1 0 0 0 0 0 1
Peeling skin syndrome 5 0 1 0 0 0 0 1
Phenylketonuria 0 0 0 0 1 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 0 0 1
Plasminogen deficiency, type I 1 0 0 0 0 0 1
Polycystic kidney disease, adult type 0 0 1 0 0 0 1
Preeclampsia/eclampsia 4 0 0 0 0 1 0 1
Prekallikrein deficiency 0 0 0 0 1 0 1
Premature ovarian failure 5 0 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 1 0 0 0 0 1
Primary hyperoxaluria type 3 1 0 0 0 0 0 1
Pseudoexfoliation glaucoma 0 0 1 0 0 0 1
Pyruvate dehydrogenase E3 deficiency 1 0 0 0 0 0 1
Pyruvate kinase hyperactivity 1 0 0 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 0 1
Retinitis pigmentosa 59 1 0 0 0 0 0 1
Retinitis pigmentosa 69 1 0 0 0 0 0 1
Salla disease 1 0 0 0 0 0 1
Short-rib thoracic dysplasia 8 with or without polydactyly 0 0 1 0 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 0 0 1
Smith-Lemli-Opitz syndrome 1 0 0 0 0 0 1
Spermatogenic Failure 1 0 0 0 0 0 1
Spermatogenic failure 11 0 0 1 0 0 0 1
Spermatogenic failure 12 0 0 0 1 0 0 1
Spinal muscular atrophy 1 0 0 0 0 0 1
Spongy degeneration of central nervous system 0 1 0 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 0 1
Thrombotic thrombocytopenic purpura 0 0 0 0 1 0 1
Thyroglobulin synthesis defect 0 0 1 0 0 0 1
Thyroid dyshormonogenesis 6 1 0 0 0 0 0 1
Tooth agenesis, selective, 4 0 1 0 0 0 0 1
Tooth agenesis, selective, X-linked, 1 0 0 0 0 1 0 1
Tyrosinase-positive oculocutaneous albinism 1 0 0 0 0 0 1
Usher syndrome type 3 1 0 0 0 0 0 1
Van Maldergem syndrome 1 0 0 1 0 0 0 1
Variegate porphyria 0 0 0 0 1 0 1
Ventriculomegaly-cystic kidney disease 0 1 0 0 0 0 1
Walker-Warburg congenital muscular dystrophy 1 0 0 0 0 0 1
Warsaw breakage syndrome 0 1 0 0 0 0 1
Wilson disease 1 0 0 0 0 0 1
Xeroderma pigmentosum group B 0 1 0 0 0 0 1
Xeroderma pigmentosum variant type 0 0 1 0 0 0 1
Xeroderma pigmentosum, group C 0 0 1 0 0 0 1
Xeroderma pigmentosum, group D 0 0 1 0 0 0 1
alpha, alpha-Trehalase deficiency 0 0 1 0 0 0 1
delta Thalassemia 1 0 0 0 0 0 1
von Willebrand disease type 1 1 0 0 0 0 0 1

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