"Department of Clinical Genetics, Copenhagen University Hospital, Rigs - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679312	NM_017825.3(ADPRS):c.544C>T (p.His182Tyr)	ADPRS (H182Y)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GUncertain significance
Select item 1679337	NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter)	ADPRS (Y188*)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic