"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619021	NM_001198800.3(ASCC1):c.626+1G>A	ASCC1	Single nucleotide variant (splice donor variant)	Spinal muscular atrophy with congenital bone fractures 2 +3 more	GPathogenic/Likely pathogenic
Select item 1301895	NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter)	ASCC1 (R117* +3 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic