ClinVar for MedGen (Select 1845571) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576989	NM_178000.3(PTPA):c.407C>A (p.Ala136Asp)	PTPA (A171D +4 more)	Single nucleotide variant (missense variant)	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	GPathogenic
Select item 2576988	NM_178000.3(PTPA):c.788T>G (p.Met263Arg)	PTPA (M298R +4 more)	Single nucleotide variant (missense variant)	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	GPathogenic