"Illumina Laboratory Services, Illumina"[submitter] AND "ASCC1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801334	NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter)	ASCC1 (R156* +3 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 2 +1 more	GPathogenic
Select item 3062021	NM_001198800.3(ASCC1):c.213-8T>G	ASCC1	Single nucleotide variant (intron variant)	Spinal muscular atrophy with congenital bone fractures 2	GLikely pathogenic