Related gene-specific medical variations for Gene (Select 587) - 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 2802005	NM_001190.4(BCAT2):c.1169T>A (p.Phe390Tyr)	BCAT2, LOC130064882 (F298Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419240	NM_001190.4(BCAT2):c.1147A>G (p.Ile383Val)	BCAT2, LOC130064882 (I291V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395858	NM_001190.4(BCAT2):c.19G>A (p.Gly7Arg)	BCAT2, LOC121627884 (G7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299125	NM_001190.4(BCAT2):c.20G>A (p.Gly7Glu)	BCAT2, LOC121627884 (G7E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2068450	NM_001190.4(BCAT2):c.1147A>T (p.Ile383Phe)	BCAT2, LOC130064882 (I343F +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2042432	NM_001190.4(BCAT2):c.19G>T (p.Gly7Trp)	BCAT2, LOC121627884 (G7W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1900632	NM_001190.4(BCAT2):c.1141-7T>G	BCAT2, LOC130064882	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1630078	NM_001190.4(BCAT2):c.24+17G>A	BCAT2, LOC121627884	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar