"ITMI"[submitter] AND "IDH1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134521	NM_005896.4(IDH1):c.665G>T (p.Arg222Leu)	IDH1 (R222L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134519	NM_005896.4(IDH1):c.659A>G (p.Asp220Gly)	IDH1 (D220G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134522	NM_005896.4(IDH1):c.622T>C (p.Tyr208His)	IDH1 (Y208H)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134518	NM_005896.4(IDH1):c.565A>G (p.Ile189Val)	IDH1 (I189V)	Single nucleotide variant (missense variant)	Enchondromatosis	GLikely pathogenic
Select item 134517	NM_005896.4(IDH1):c.548A>G (p.Tyr183Cys)	IDH1 (Y183C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 134520	NM_005896.4(IDH1):c.532G>A (p.Val178Ile)	IDH1 (V178I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 134516	NM_005896.4(IDH1):c.211G>A (p.Val71Ile)	IDH1 (V71I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 134515	NM_005896.4(IDH1):c.94T>G (p.Phe32Val)	IDH1 (F32V)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar