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:
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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
159 239 88 2 2 3 493

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
PLP1, RAB9B 14 73 13 0 0 0 100
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
GJC2 4 20 4 0 0 0 28
POLR3A 0 15 3 0 0 0 18
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
POLR3B 1 4 4 0 0 0 9
TUBB4A 1 8 0 0 0 0 9
CYP24A1 5 1 2 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
HYCC1 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
SLC16A2 0 2 1 0 0 0 3
ALMS1 2 0 0 0 0 0 2
CUBN 1 0 1 0 0 0 2
DNASE1L1, TAFAZZIN 1 1 0 0 0 0 2
DOCK6, LDLR 2 0 0 0 0 0 2
HEPACAM 1 1 0 0 0 0 2
IGHMBP2 0 0 2 0 0 0 2
KRAS 1 1 0 0 0 0 2
MLC1 1 1 0 0 0 0 2
PYGM 2 0 0 0 0 0 2
SLC2A9 0 0 2 0 0 0 2
AXDND1, NPHS2 1 0 0 0 0 0 1
COL4A5 1 0 0 0 0 0 1
COQ8B 1 0 0 0 0 0 1
CRB2 0 0 1 0 0 0 1
ITGB4 0 0 1 0 0 0 1
LDLR 0 1 0 0 0 0 1
LOC100287944, POLR3B 0 0 1 0 0 0 1
LOC123956210, SLC26A4 1 0 0 0 0 0 1
LOC126806995, MED28 0 0 1 0 0 0 1
LOC126860970, POLR3A 1 0 0 0 0 0 1
LOC126860971, POLR3A 0 0 1 0 0 0 1
MEFV 0 1 0 0 0 0 1
MIR17HG 1 0 0 0 0 0 1
MYCN, MYCNOS 1 0 0 0 0 0 1
MYH9 0 0 1 0 0 0 1
NPHS1 0 1 0 0 0 0 1
NPHS2 0 0 1 0 0 0 1
PMM2 1 0 0 0 0 0 1
PRKAR1A 0 1 0 0 0 0 1
PTPRO 0 0 1 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
SMARCAL1 0 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 52
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Pelizaeus-Merzbacher disease 14 73 13 0 0 0 100
not provided 47 28 6 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
Hypomyelinating leukodystrophy 2 4 20 4 0 0 0 28
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome 1 15 4 0 0 0 20
not specified 0 0 13 0 1 0 14
Pendred syndrome 5 3 4 0 0 0 12
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 1 4 5 0 0 0 10
Hypomyelinating leukodystrophy 6 1 8 0 0 0 0 9
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
Focal segmental glomerulosclerosis 1 1 3 0 0 0 5
Autosomal recessive multiple pterygium syndrome 3 0 1 0 0 0 4
Hypomyelination and Congenital Cataract 0 4 0 0 0 0 4
Kugelberg-Welander disease 3 1 0 0 0 0 4
Werdnig-Hoffmann disease 2 1 1 0 0 0 4
Allan-Herndon-Dudley syndrome 0 2 1 0 0 0 3
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
Alstrom syndrome 2 0 0 0 0 0 2
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
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 1 0 0 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 2A 1 1 0 0 0 0 2
Nephrotic syndrome, type 2 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 axonal type 2C 0 1 0 0 0 0 1
Chronic kidney disease 1 0 0 0 0 0 1
Dalmatian hypouricemia 0 0 1 0 0 0 1
Familial Mediterranean fever 0 1 0 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
Focal segmental glomerulosclerosis 9 0 0 1 0 0 0 1
Metatropic dysplasia 1 0 0 0 0 0 1
Nephrotic syndrome 0 0 1 0 0 0 1
Nephrotic syndrome, type 6 0 0 1 0 0 0 1
Nephrotic syndrome, type 9 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
X-linked Alport syndrome 1 0 0 0 0 0 1

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