C4747715[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 647320	NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser)	BICD2 (Y556S)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely pathogenic
Select item 453157	NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg)	BICD2 (K213R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity