ClinVar for MedGen (Select 907910) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2506360	NM_001198800.3(ASCC1):c.464_465del (p.Glu155fs)	ASCC1 (E116fs +3 more)	Deletion (frameshift variant +1 more)	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 2500145	NC_000010.11:g.72138925_72163147del	ASCC1	Deletion	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 1333815	NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)	ASCC1 (Q156* +3 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic/Likely pathogenic
Select item 1327920	NM_001198800.3(ASCC1):c.813G>A (p.Trp271Ter)	ASCC1 (W231* +5 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 2	GUncertain significance
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
Select item 1252053	NM_001198800.3(ASCC1):c.871+1G>A	ASCC1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1210120	NC_000010.10:g.(?_73970434)_(73973122_?)del	ASCC1	Deletion	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 1029240	NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter)	ASCC1 (Q223* +5 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 985781	NM_001198800.3(ASCC1):c.311-2A>G	ASCC1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	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 801336	NG_031890.1:g.(?_60461)_(94053_?)del	ASCC1	Deletion	Spinal muscular atrophy with congenital bone fractures 2	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 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 714485	NM_001198800.3(ASCC1):c.107A>G (p.Tyr36Cys)	ASCC1 (Y58C +1 more)	Single nucleotide variant (missense variant +2 more)	ASCC1-related condition +2 more	GConflicting classifications of pathogenicity
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 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
Select item 31129	NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser)	ASCC1 (N290S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign