ClinVar Miner

Variants from Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Location: United States  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 risk factor total
128 109 55 2 2 3 299

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
TAFAZZIN 9 26 17 0 0 0 52
NKX2-1, SFTA3 18 24 1 0 0 0 43
MECP2 16 7 10 2 2 0 37
SMN1 17 8 6 0 0 0 31
EMD 10 5 0 0 0 0 15
PTPN11 10 2 2 0 0 0 14
SLC26A4 4 3 4 0 0 0 11
BRAF 2 7 0 0 0 0 9
CYP24A1 4 1 3 0 0 0 8
HRAS, LRRC56 6 1 1 0 0 0 8
PCNT 2 6 0 0 0 0 8
MYCN 4 2 0 0 0 0 6
TRPV4 2 3 1 0 0 0 6
CASR 2 0 2 0 0 0 4
CHRNG 3 0 1 0 0 0 4
DNASE1L1, LOC130068869, TAFAZZIN 0 4 0 0 0 0 4
LIG4 2 1 1 0 0 0 4
SOS1 2 1 1 0 0 0 4
APOL1 0 0 0 0 0 3 3
GCM2 3 0 0 0 0 0 3
MAP2K1 1 2 0 0 0 0 3
DNASE1L1, TAFAZZIN 1 1 0 0 0 0 2
DOCK6, LDLR 2 0 0 0 0 0 2
IGHMBP2 0 0 2 0 0 0 2
KRAS 1 1 0 0 0 0 2
PYGM 2 0 0 0 0 0 2
SLC2A9 0 0 2 0 0 0 2
LDLR 0 1 0 0 0 0 1
LOC123956210, SLC26A4 1 0 0 0 0 0 1
MIR17HG 1 0 0 0 0 0 1
MYCN, MYCNOS 1 0 0 0 0 0 1
NPHS1 0 1 0 0 0 0 1
PRKAR1A 0 1 0 0 0 0 1
RAF1 1 0 0 0 0 0 1
RBM10 1 0 0 0 0 0 1
SHOC2 0 1 0 0 0 0 1
SLC22A12 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 46 28 7 0 0 0 81
3-Methylglutaconic aciduria type 2 10 31 17 0 0 0 58
Brain-lung-thyroid syndrome 17 23 1 0 0 0 41
Rett syndrome 14 7 5 2 1 0 29
not specified 0 0 13 0 1 0 14
Pendred syndrome 5 3 4 0 0 0 12
Microcephalic osteodysplastic primordial dwarfism type II 2 6 0 0 0 0 8
Feingold syndrome type 1 5 2 0 0 0 0 7
Costello syndrome 4 0 1 0 0 0 5
Autosomal recessive multiple pterygium syndrome 3 0 1 0 0 0 4
Kugelberg-Welander disease 3 1 0 0 0 0 4
Werdnig-Hoffmann disease 2 1 1 0 0 0 4
Focal segmental glomerulosclerosis 4, susceptibility to 0 0 0 0 0 3 3
Hypercholesterolemia, familial, 1 2 1 0 0 0 0 3
X-linked Emery-Dreifuss muscular dystrophy 3 0 0 0 0 0 3
Benign hereditary chorea 1 1 0 0 0 0 2
Glycogen storage disease, type V 2 0 0 0 0 0 2
Hypercalcemia, infantile, 1 2 0 0 0 0 0 2
Hypouricemia, renal, 2 0 0 2 0 0 0 2
Spinal muscular atrophy, type II 1 0 1 0 0 0 2
Acrodysostosis 1 with or without hormone resistance 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 1 0 0 0 0 1
Dalmatian hypouricemia 0 0 1 0 0 0 1
Familial hypocalciuric hypercalcemia 1 1 0 0 0 0 0 1
Familial hypoparathyroidism 1 0 0 0 0 0 1
Feingold syndrome type 2 1 0 0 0 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 0 0 1
Metatropic dysplasia 1 0 0 0 0 0 1
Noonan syndrome 4 0 1 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 1 0 0 0 0 1
Spinal muscular atrophy, type IV 1 0 0 0 0 0 1
Spondylometaphyseal dysplasia, Kozlowski type 0 0 1 0 0 0 1
TARP syndrome 1 0 0 0 0 0 1

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