"OMIM"[submitter] AND "ASCC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801336	NG_031890.1:g.(?_60461)_(94053_?)del	ASCC1	Deletion	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 801337	NM_001198800.3(ASCC1):c.943C>T (p.Arg315Ter)	ASCC1 (R343* +5 more)	Single nucleotide variant (nonsense +2 more)	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 31129	NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser)	ASCC1 (N290S +5 more)	Single nucleotide variant (missense variant +1 more)	Spinal muscular atrophy with congenital bone fractures 2 +2 more	GBenign/Likely benign
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 801335	NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter)	ASCC1 (R138* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 224639	NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	ASCC1 (E14fs +2 more)	Duplication (frameshift variant +1 more)	See cases +2 more	GPathogenic/Likely pathogenic

ClinVar