ClinVar Miner

Variants from Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

Location: United States — Primary collection method: clinical testing
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
87 43 30 2 2 3 167

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
MECP2 15 7 10 2 2 0 36
SMN1 16 8 6 0 0 0 30
EMD 10 5 0 0 0 0 15
PTPN11 10 2 2 0 0 0 14
BRAF 2 7 0 0 0 0 9
HRAS, LRRC56 6 1 1 0 0 0 8
CYP24A1 2 1 3 0 0 0 6
TRPV4 2 3 1 0 0 0 6
MYCN 4 1 0 0 0 0 5
CASR 2 0 2 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
CHRNG 1 0 1 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
FAM20A, PRKAR1A 0 1 0 0 0 0 1
LDLR 0 1 0 0 0 0 1
MIR17HG 1 0 0 0 0 0 1
MYCN, MYCNOS 1 0 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

Condition and significance breakdown #

Total conditions: 24
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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
Rett syndrome 13 7 5 2 1 0 28
not specified 0 0 13 0 1 0 14
Feingold syndrome 1 5 1 0 0 0 0 6
Costello syndrome 4 0 1 0 0 0 5
Werdnig-Hoffmann disease 2 1 1 0 0 0 4
Emery-Dreifuss muscular dystrophy 1, X-linked 3 0 0 0 0 0 3
Familial hypercholesterolemia 2 1 0 0 0 0 3
Focal segmental glomerulosclerosis 4, susceptibility to 0 0 0 0 0 3 3
Kugelberg-Welander disease 2 1 0 0 0 0 3
Glycogen storage disease, type V 2 0 0 0 0 0 2
Multiple pterygium syndrome Escobar type 1 0 1 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 type 2C 0 1 0 0 0 0 1
Feingold syndrome 2 1 0 0 0 0 0 1
Hypocalciuric hypercalcemia, familial, type 1 1 0 0 0 0 0 1
Hypoparathyroidism familial isolated 1 0 0 0 0 0 1
Metatrophic 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 4 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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