C0024776[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931508	NM_001918.5(DBT):c.391G>A (p.Val131Met)	DBT (V131M)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 931233	NM_000709.4(BCKDHA):c.1168-1G>A	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 100009	NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	BCKDHA (Y438N +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +3 more	GPathogenic/Likely pathogenic

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