ClinVar Miner

Variants from Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela

Location: Chile — 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
23 0 0 0 0 23

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic total
GLB1 3 3
CTSA 2 2
CTSD 2 2
FUCA1 2 2
GNPTAB 2 2
HEXA 2 2
ARSB 1 1
CHPT1, GNPTAB 1 1
CLN3 1 1
CLN8 1 1
GM2A 1 1
GUSB 1 1
IDUA 1 1
NPC2 1 1
SLC17A5 1 1
SMPD1 1 1

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic total
Infantile GM1 gangliosidosis 3 3
Pseudo-Hurler polydystrophy 3 3
Tay-Sachs disease 3 3
Ceroid lipofuscinosis neuronal 10 2 2
Combined deficiency of sialidase AND beta galactosidase 2 2
Fucosidosis 2 2
Ceroid lipofuscinosis neuronal 6 1 1
Ceroid lipofuscinosis neuronal 8 1 1
Dysostosis multiplex 1 1
Juvenile neuronal ceroid lipofuscinosis 1 1
Mucopolysaccharidosis type VI 1 1
Mucopolysaccharidosis type VII 1 1
Niemann-Pick disease type C2 1 1
Sialic acid storage disease, severe infantile type 1 1

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