GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
NPC2 E20Xinsufficiently evaluated pathogenic, f=0.000unknown

(46 web hits)

NPC2 V30Mlikely pathogenicrecessive

Reported to cause seizures and epilepsy in a recessive manner, as recorded in ClinVar by the Developmental Genetics Unit; King Faisal Specialist Hospital and Research Center. This assertion cites a supporting publication, Alazami et al 2015 (PMID: 25558065), which cite this as a mutation discovered through whole exome sequencing in a study of 143 consanguineous families with neurogenetic diagnoses. Other mutations in this gene are known to cause Neiman-Pick syndrome type C2 (a very rare variant), but neither of the affected siblings in the affected family had typical Neiman-Pick symptoms (progressive neurodegeneration or hepatosplenomegaly).

NPC2 V39Minsufficiently evaluated pathogenic, f=0.000unknown

(17 web hits)

NPC2 S67Pinsufficiently evaluated pathogenicunknown

(30 web hits)

NPC2 E118Xinsufficiently evaluated pathogenicunknown

(22 web hits)

NPC2 P120Sinsufficiently evaluated pathogenicunknown

(9 web hits)

NPC2 S121Tinsufficiently evaluated not reviewedunknown
NPC2 Q146Xinsufficiently evaluated pathogenicunknown

(4 web hits)

Total results: 8

Gene search

"GENE" or "GENE A123C":

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