ClinVar Miner

Variants from Laboratory of Metabolic Disorders, Peking University First Hospital

Location: China  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 total
53 26 19 0 0 98

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PCCA 9 9 0 18
CPS1 4 3 4 11
PCCB 3 8 0 11
ALDH5A1 1 4 5 10
MAT1A 0 1 9 10
SMPD1 7 0 0 7
SLC19A3 5 0 0 5
BSCL2, HNRNPUL2-BSCL2 3 1 0 4
SLC25A19 4 0 0 4
SURF1 4 0 0 4
ADAMTSL2 2 0 0 2
AGPAT2 2 0 0 2
ALDH5A1, GPLD1, LOC129995978 2 0 0 2
FASTKD2, LOC126806484 2 0 0 2
TPK1 2 0 0 2
C2orf83, SLC19A3 1 0 0 1
FASTKD2 1 0 0 1
LOC126860980, MAT1A 0 0 1 1
SERAC1 1 0 0 1

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance total
Propionic acidemia 12 17 0 29
Succinate-semialdehyde dehydrogenase deficiency 3 4 5 12
Congenital hyperammonemia, type I 4 3 4 11
Hepatic methionine adenosyltransferase deficiency 0 1 10 11
Leigh syndrome 7 0 0 7
Niemann-Pick disease, type A 7 0 0 7
Biotin-responsive basal ganglia disease 6 0 0 6
Congenital generalized lipodystrophy type 2 3 1 0 4
Progressive demyelinating neuropathy with bilateral striatal necrosis 4 0 0 4
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2 0 0 2
Congenital generalized lipodystrophy type 1 2 0 0 2
Geleophysic dysplasia 1 2 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 1

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