"GeneDx"[submitter] AND "IDH1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 58819	GRCh38/hg38 2q33.3-34(chr2:208179265-209331482)x1	C2orf80, IDH1 +11 more	Copy number loss	See cases	GPathogenic
Select item 1275091	NM_005896.4(IDH1):c.1155-225_1155-224insGA	IDH1	Insertion (intron variant)	not provided	GBenign
Select item 1228093	NM_005896.4(IDH1):c.1154+300C>T	IDH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232855	NM_005896.4(IDH1):c.992-273T>C	IDH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266090	NM_005896.4(IDH1):c.699-241C>A	IDH1	Single nucleotide variant (intron 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 1263012	NM_005896.4(IDH1):c.520+27dup	IDH1	Duplication (intron variant)	not provided	GBenign
Select item 1295204	NM_005896.4(IDH1):c.415-141_415-139dup	IDH1	Duplication (intron variant)	not provided	GBenign
Select item 1273575	NM_005896.4(IDH1):c.415-141_415-138dup	IDH1	Duplication (intron variant)	not provided	GBenign
Select item 1271012	NM_005896.4(IDH1):c.415-141dup	IDH1	Duplication (intron variant)	not provided	GBenign
Select item 1261748	NM_005896.4(IDH1):c.415-141_415-140dup	IDH1	Duplication (intron variant)	not provided	GBenign
Select item 1250304	NM_005896.4(IDH1):c.415-123del	IDH1	Deletion (intron variant)	not provided	GBenign
Select item 1295248	NM_005896.4(IDH1):c.415-238A>G	IDH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402961	NM_005896.4(IDH1):c.315C>T (p.Gly105=)	IDH1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1287620	NM_005896.4(IDH1):c.122+166dup	IDH1	Duplication (intron variant)	not provided	GBenign
Select item 1274994	NM_005896.4(IDH1):c.122+105G>A	IDH1	Single nucleotide variant (intron variant)	not provided	GBenign