ClinVar Miner

Variants from Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

Location: Japan  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 total
156 24 10 12 2 204

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TSC2 84 16 6 6 0 112
TSC1 45 2 4 6 2 59
NF1 8 0 0 0 0 8
COL1A1 2 3 0 0 0 5
ATP7B 1 1 0 0 0 2
COL2A1 2 0 0 0 0 2
AK8, GFI1B, GTF3C4, LOC111365185, LOC113839536, LOC116216102, LOC130002881, LOC130002882, LOC130002883, LOC130002884, MIR548AW, SPACA9, TSC1 1 0 0 0 0 1
ATM 1 0 0 0 0 1
ATM, C11orf65 1 0 0 0 0 1
BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, LOC112340386, LOC112340387, LOC129390754, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, MIR1225, MIR3180-5, MIR4516, MIR6511B1, MLST8, PGP, PKD1, RAB26, SNHG19, SNORD60, TRAF7, TSC2 1 0 0 0 0 1
BRICD5, CASKIN1, LOC112340386, LOC112340387, LOC129390754, LOC130058209, LOC130058210, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, MIR1225, MIR3180-5, MIR4516, MIR6511B1, MLST8, NTHL1, PGP, PKD1, RAB26, SNHG19, SNORD60, TRAF7, TSC2 1 0 0 0 0 1
COL7A1 1 0 0 0 0 1
FLNA 1 0 0 0 0 1
FLNA, LOC107988032 1 0 0 0 0 1
GFER, HS3ST6, LINC00254, LINC02124, LOC116268480, LOC121530610, LOC125146375, LOC125146377, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, MEIOB, MIR1225, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, PKD1, RNF151, RPL3L, RPS2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598 1 0 0 0 0 1
GFER, HS3ST6, LOC116268480, LOC121530610, LOC125146375, LOC125146377, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, MIR1225, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, PKD1, RNF151, RPL3L, RPS2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598 1 0 0 0 0 1
LOC111811965, MIR4733HG, NF1 1 0 0 0 0 1
MED12 0 1 0 0 0 1
PROS1 0 1 0 0 0 1
SCN8A 1 0 0 0 0 1
WRN 1 0 0 0 0 1
XPC 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Tuberous sclerosis 2 88 16 6 6 0 116
Tuberous sclerosis 1 46 2 4 6 2 60
Neurofibromatosis, type 1 9 0 0 0 0 9
Ataxia-telangiectasia syndrome 2 0 0 0 0 2
Heterotopia, periventricular, X-linked dominant 2 0 0 0 0 2
Osteogenesis imperfecta type I 1 1 0 0 0 2
Stickler syndrome type 1 2 0 0 0 0 2
Wilson disease 1 1 0 0 0 2
Blepharophimosis - intellectual disability syndrome, MKB type 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 13 1 0 0 0 0 1
Osteogenesis imperfecta type III 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 0 1 0 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 1 0 0 0 1
Werner syndrome 1 0 0 0 0 1
Xeroderma pigmentosum, group C 1 0 0 0 0 1

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