ClinVar Miner

Variants from Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

Location: South Africa  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
113 54 3 0 0 170

Gene and significance breakdown #

Total genes and gene combinations: 73
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NF1 15 5 0 20
PTPN11 13 0 0 13
FBN1 5 4 0 9
NIPBL 6 3 0 9
BRAF 6 0 0 6
CHD7 3 2 0 5
F8 0 5 0 5
LZTR1 1 4 0 5
TCOF1 2 3 0 5
TSC2 4 1 0 5
FGFR2 4 0 0 4
FGFR3 3 1 0 4
COL2A1 2 1 0 3
RYR1 2 0 1 3
TRPV4 2 1 0 3
CFTR 1 1 0 2
COL1A2 0 2 0 2
COL7A1 2 0 0 2
F9 2 0 0 2
FANCG 2 0 0 2
LDLR 2 0 0 2
LOC111811965, MIR4733HG, NF1 1 1 0 2
MECP2 1 1 0 2
NSD1 0 2 0 2
RAF1 2 0 0 2
SOS1 2 0 0 2
TP63 0 2 0 2
XPC 2 0 0 2
ABCD1 1 0 0 1
APC 1 0 0 1
ARSB 0 1 0 1
ATRX 1 0 0 1
BBS10 1 0 0 1
BRCA1 1 0 0 1
BRCA2 1 0 0 1
CFTR, LOC111674472 0 1 0 1
CHD7, LOC126860403 1 0 0 1
CHST6 0 1 0 1
CLCN1 1 0 0 1
COL1A1 1 0 0 1
COL5A2 0 1 0 1
CPLANE1 0 1 0 1
CTSK 1 0 0 1
DMD 1 0 0 1
EDA 0 1 0 1
GPC3 0 1 0 1
JAG1 1 0 0 1
MAP2K1 0 0 1 1
MAP2K2 1 0 0 1
MEF2C 1 0 0 1
MFN2 1 0 0 1
MTM1 1 0 0 1
MYH3 0 1 0 1
NPHS1 1 0 0 1
NRAS 1 0 0 1
OCRL 1 0 0 1
PAX3 0 1 0 1
PCNT 0 1 0 1
PKHD1 1 0 0 1
POLR1D 1 0 0 1
POLR2F, SOX10 0 1 0 1
PRSS1, TRB 1 0 0 1
RET 0 0 1 1
SDHD 0 1 0 1
SHOC2 1 0 0 1
STAC3 1 0 0 1
STAG1 0 1 0 1
STK11 1 0 0 1
TGM1 1 0 0 1
TP53 1 0 0 1
TRPS1 0 1 0 1
WNT10A 1 0 0 1
XPA 0 1 0 1

Condition and significance breakdown #

Total conditions: 69
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Condition pathogenic likely pathogenic uncertain significance total
Neurofibromatosis, type 1 16 5 0 21
Noonan syndrome 1 16 3 0 19
RASopathy 7 2 1 10
Cornelia de Lange syndrome 1 6 3 0 9
Marfan syndrome 5 4 0 9
CHARGE association 4 2 0 6
Hereditary factor VIII deficiency disease 0 5 0 5
Treacher Collins syndrome 1 2 3 0 5
Tuberous sclerosis 2 4 1 0 5
FGFR2-related craniosynostosis 4 0 0 4
Achondroplasia 2 1 0 3
Cystic fibrosis 1 2 0 3
RYR1-Related Disorders 2 0 1 3
Xeroderma pigmentosum 2 1 0 3
Cardiofaciocutaneous syndrome 1 2 0 0 2
Epidermolysis bullosa 2 0 0 2
Familial hypercholesterolemia 2 0 0 2
Fanconi anemia 2 0 0 2
Hereditary cancer-predisposing syndrome 2 0 0 2
Hereditary factor IX deficiency disease 2 0 0 2
Osteogenesis imperfecta 1 1 0 2
Pheochromocytoma 0 1 1 2
Rett syndrome 1 1 0 2
Sotos syndrome 0 2 0 2
TP63-Related Spectrum Disorders 0 2 0 2
Type II Collagenopathies 1 1 0 2
Adrenoleukodystrophy 1 0 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 0 1
Autosomal recessive congenital ichthyosis 1 1 0 0 1
Bailey-Bloch congenital myopathy 1 0 0 1
Bardet-Biedl syndrome 1 0 0 1
Cardiofaciocutaneous syndrome 4 1 0 0 1
Charcot-Marie-Tooth disease type 2 1 0 0 1
Collagen type 1 disorder 0 1 0 1
Congenital myotonia, autosomal recessive form 1 0 0 1
Duchenne muscular dystrophy 1 0 0 1
Ectodermal dysplasia 1 0 0 1
Ehlers-Danlos syndrome 0 1 0 1
Familial adenomatous polyposis 1 1 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 1
Freeman-Sheldon syndrome 0 1 0 1
Hereditary breast ovarian cancer syndrome 1 0 0 1
Hereditary pancreatitis 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 1 0 1
Intellectual disability, autosomal dominant 20 1 0 0 1
Joubert syndrome 17 0 1 0 1
LEOPARD syndrome 1 1 0 0 1
Li-Fraumeni syndrome 1 1 0 0 1
Lowe syndrome 1 0 0 1
Macular corneal dystrophy 0 1 0 1
Metatropic dysplasia 1 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 0 1 0 1
Mucopolysaccharidosis type 6 0 1 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 1
Polycystic kidney disease 4 1 0 0 1
Pyknodysostosis 1 0 0 1
STAG1-related disorder 0 1 0 1
Schwannomatosis 2 1 0 0 1
Severe X-linked myotubular myopathy 1 0 0 1
Simpson-Golabi-Behmel syndrome type 1 0 1 0 1
Skeletal dysplasia 0 1 0 1
TRPV4-related bone disorder 1 0 0 1
Thanatophoric dysplasia type 1 1 0 0 1
Treacher Collins syndrome 2 1 0 0 1
Trichorhinophalangeal syndrome 0 1 0 1
Type 2 collagenopathy 1 0 0 1
Waardenburg syndrome 0 1 0 1
Waardenburg syndrome type 1 0 1 0 1

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