C1859298[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572476	NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)	PMPCA, LOC126860792 (R123C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 2572590	NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)	PMPCA (R271* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 2	GLikely pathogenic

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