C3203358[trait identifier] AND "Gene Discovery Core-Manton Center, Bos - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 221553	NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)	PMPCA (G356S +2 more)	Single nucleotide variant (missense variant)	Global brain atrophy +12 more	GPathogenic
Select item 221552	NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	PMPCA (A377T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2 +13 more	GPathogenic