"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184733	NM_032756.4(HPDL):c.[832G>A;91T>C]	HPDL (F31L +1 more)	Single nucleotide variant (missense variant)	Spastic ataxia	GPathogenic
Select item 1697219	NM_032756.4(HPDL):c.147C>A (p.Ser49Arg)	HPDL (S49R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 979212	NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)	HPDL (G50D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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