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: 44
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Gene or gene combination pathogenic likely pathogenic total
NPHS1 1 106 107
GLDC 1 77 78
VPS13B 0 77 77
CLN3 0 54 54
PPT1 0 50 50
SLC26A3 1 48 49
SLC7A7 0 40 40
POMGNT1, TSPAN1 1 34 35
OAT 0 33 33
TMEM67 0 30 30
CUBN 0 28 28
CLN5, FBXL3 1 21 22
AGA 0 21 21
AMN 0 21 21
CC2D2A 0 20 20
SLC26A2 1 18 19
CLN8 0 18 18
MKS1 1 15 16
AMT 0 13 13
RECQL4 1 12 13
CEP290 0 12 12
TRIM37 1 11 12
SLC17A5 0 10 10
LCT 0 7 7
FSHR 0 6 6
CSTB 0 5 5
TREM2 0 5 5
AIRE 0 4 4
AMT, NICN1 0 4 4
BCS1L 0 4 4
TYROBP 0 4 4
KERA 0 3 3
TMEM216 0 3 3
TWNK 0 3 3
KIRREL2, NPHS1 0 2 2
POMGNT1 0 2 2
RPGRIP1L 0 2 2
B9D1 0 1 1
CHM 1 0 1
CLN5 0 1 1
CSTB, LOC109029533 1 0 1
GCSH 0 1 1
GLE1 1 0 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
Juvenile neuronal ceroid lipofuscinosis 0 54 54
Ceroid lipofuscinosis neuronal 1 0 50 50
Congenital secretory diarrhea, chloride type 1 48 49
Megaloblastic anemia due to inborn errors of metabolism 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
Ceroid lipofuscinosis neuronal 5 1 22 23
Aspartylglucosaminuria 0 21 21
Meckel syndrome type 6 0 20 20
Diastrophic dysplasia 1 18 19
Ceroid lipofuscinosis neuronal 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 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
Meckel syndrome type 2 0 3 3
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 0 3 3
Meckel syndrome type 5 0 2 2
Choroideremia 1 0 1
Distal myopathy Markesbery-Griggs type 0 1 1
Lethal arthrogryposis with anterior horn cell disease 1 0 1
not provided 0 1 1

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