ClinVar for MedGen (Select 1719306) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338122	BCAT2, INS/DEL, NT1154	BCAT2	Indel	Hypervalinemia and hyperleucine-isoleucinemia	GPathogenic
Select item 3338121	NM_001190.4(BCAT2):c.136_147del (p.His46_Pro49del)	BCAT2	Deletion (inframe_deletion +1 more)	Hypervalinemia and hyperleucine-isoleucinemia	GPathogenic
Select item 3338118	NM_001190.4(BCAT2):c.545T>G (p.Val182Gly)	BCAT2 (V142G +1 more)	Single nucleotide variant (missense variant)	Hypervalinemia and hyperleucine-isoleucinemia	GPathogenic
Select item 1980342	NM_001190.4(BCAT2):c.600C>A (p.Tyr200Ter)	BCAT2 (Y108* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1918210	NM_001190.4(BCAT2):c.1021G>A (p.Ala341Thr)	BCAT2 (A249T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 869185	NM_001190.4(BCAT2):c.790G>A (p.Glu264Lys)	BCAT2 (E172K +1 more)	Single nucleotide variant (missense variant)	Hypervalinemia and hyperleucine-isoleucinemia	GPathogenic
Select item 869184	NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln)	BCAT2 (R170Q +2 more)	Single nucleotide variant (missense variant)	Hypervalinemia and hyperleucine-isoleucinemia	GPathogenic

ClinVar