C1864912[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281177	NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	ACADSB (Q99*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 448980	NM_001609.4(ACADSB):c.303+3A>G	ACADSB	Single nucleotide variant (intron variant)	ACADSB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 9202	NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	ACADSB (T148I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 299075	NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	ACADSB (W207* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1029359	NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)	ACADSB (A112S +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 9203	NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	ACADSB (E387K +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 1032758	NM_001609.4(ACADSB):c.1228+1G>A	ACADSB	Single nucleotide variant (splice donor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic

ClinVar