ClinVar Miner

Variants from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Location: Finland  Primary collection method: not provided
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
12 827 0 0 0 839

Gene and significance breakdown #

Total genes and gene combinations: 55
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Gene or gene combination pathogenic likely pathogenic total
NPHS1 0 103 103
GLDC 1 77 78
VPS13B 0 77 77
CLN3 0 54 54
PPT1 0 49 49
SLC26A3 1 48 49
SLC7A7 0 38 38
POMGNT1, TSPAN1 1 34 35
OAT 0 30 30
TMEM67 0 30 30
CUBN 0 27 27
CLN5 1 21 22
CC2D2A 0 20 20
SLC26A2 1 18 19
AGA 0 18 18
CLN8 0 18 18
AMN 0 14 14
MKS1 1 13 14
AMT 0 13 13
RECQL4 1 12 13
CEP290 0 12 12
TRIM37 1 11 12
SLC17A5 0 9 9
LCT 0 7 7
FSHR 0 6 6
KIRREL2, NPHS1 1 5 6
AMN, LOC130056554 0 5 5
TREM2 0 5 5
AIRE 0 4 4
AMT, NICN1 0 4 4
BCS1L 0 4 4
CSTB 0 4 4
TYROBP 0 4 4
AGA, AGA-DT 0 3 3
KERA 0 3 3
LOC121815974, OAT 0 3 3
TMEM216 0 3 3
TWNK 0 3 3
AMN, LOC130056553 0 2 2
LOC130061271, MKS1 0 2 2
POMGNT1 0 2 2
RPGRIP1L 0 2 2
B9D1 0 1 1
CHM 1 0 1
CLN5, LOC130009913 0 1 1
CSTB, LOC109029533, LOC130066788 1 0 1
CSTB, LOC130066788 0 1 1
CUBN, LOC126860871 0 1 1
GCSH 0 1 1
GLE1 1 0 1
LOC129930245, PPT1 0 1 1
LOC130055323, SLC7A7 0 1 1
LOC130055324, SLC7A7 0 1 1
LOC132089454, SLC17A5 0 1 1
TTN 0 1 1

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic total
Finnish congenital nephrotic syndrome 1 108 109
Non-ketotic hyperglycinemia 1 95 96
Cohen syndrome 0 77 77
Neuronal ceroid lipofuscinosis 3 0 54 54
Neuronal ceroid lipofuscinosis 1 0 50 50
Congenital secretory diarrhea, chloride type 1 48 49
Imerslund-Grasbeck syndrome 0 49 49
Lysinuric protein intolerance 0 40 40
Muscle eye brain disease 1 36 37
Ornithine aminotransferase deficiency 0 33 33
Meckel syndrome, type 3 0 30 30
Neuronal ceroid lipofuscinosis 5 1 22 23
Aspartylglucosaminuria 0 21 21
Meckel syndrome, type 6 0 20 20
Diastrophic dysplasia 1 18 19
Neuronal ceroid lipofuscinosis 8 0 18 18
Meckel syndrome, type 1 1 15 16
Rapadilino syndrome 1 12 13
Meckel syndrome, type 4 0 12 12
Mulibrey nanism syndrome 1 11 12
Salla disease 0 10 10
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 0 9 9
Congenital lactase deficiency 0 7 7
Ovarian dysgenesis 1 0 6 6
Unverricht-Lundborg syndrome 1 5 6
GRACILE syndrome 0 4 4
Polyglandular autoimmune syndrome, type 1 0 4 4
Cornea plana 2 0 3 3
Infantile onset spinocerebellar ataxia 0 3 3
Meckel syndrome, type 2 0 3 3
Meckel syndrome, type 5 0 2 2
Choroideremia 1 0 1
Lethal arthrogryposis-anterior horn cell disease syndrome 1 0 1
Tibial muscular dystrophy 0 1 1
not provided 0 1 1

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