ClinVar Miner

Variants from MyeliNeuroGene Lab, McGill University Health Center Research Institute

Location: Canada  Primary collection method: research
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
54 0 0 0 0 54

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic total
POLR1C 28 28
POLR3A 8 8
AGA 2 2
LSM7 2 2
VARS1 2 2
AMN, BAG5, CDC42BPB, CKB, COA8, EIF5, EIF5-DT, EXOC3L4, LBHD2, LINC00605, LINC00677, LOC105378183, LOC112163684, LOC116268464, LOC121838600, LOC121838601, LOC125078042, LOC125078043, LOC126862063, LOC126862064, LOC126862065, LOC126862066, LOC126862067, LOC126862068, LOC130056529, LOC130056530, LOC130056531, LOC130056532, LOC130056533, LOC130056534, LOC130056535, LOC130056536, LOC130056537, LOC130056538, LOC130056539, LOC130056540, LOC130056541, LOC130056542, LOC130056543, LOC130056544, LOC130056545, LOC130056546, LOC130056547, LOC130056548, LOC130056549, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, LOC130056555, LOC130056556, LOC130056557, LOC130056558, LOC130056559, LOC130056560, LOC130056561, LOC130056562, LOC130056563, LOC130056564, LOC130056565, LOC130056566, LOC130056567, LOC130056568, LOC130056569, LOC130056570, LOC130056571, LOC130056572, LOC130056573, LOC130056574, LOC130056575, LOC130056576, LOC130056577, LOC130056578, LOC130056579, LOC130056580, LOC130056581, LOC130056582, LOC130056583, LOC130056584, LOC130056585, LOC130056586, LOC130056587, MARK3, RCOR1, SNORA28, TNFAIP2, TRAF3, TRMT61A 1 1
GJA1 1 1
LOC129996517, POLR1C 1 1
LOC130058083, POLR3K 1 1
LOC130063295, TUBB4A 1 1
POLR3K 1 1
SLC17A5 1 1
TMEM106B 1 1

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic total
Hypomyelinating leukodystrophy 11 29 29
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 8 8
Aspartylglucosaminuria 2 2
Cystic Leukoencephalopathy 2 2
Leukodystrophy, hypomyelinating, 21 2 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2 2
Seizures, early-onset, with neurodegeneration and brain calcifications 2 2
Hypomyelinating leukodystrophy 6 1 1
In utero death 1 1
Intermediate severe Salla disease 1 1
Leukodystrophy 1 1
Leukodystrophy, hypomyelinating, 16 1 1
Mitochondrial complex 4 deficiency, nuclear type 17 1 1
Oculodentodigital dysplasia 1 1

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