"GeneDx"[submitter] AND "IDH2"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 427064	NM_002168.4(IDH2):c.1288C>T (p.His430Tyr)	IDH2 (H378Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 872787	NM_002168.4(IDH2):c.1285G>A (p.Glu429Lys)	IDH2 (E429K +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2 +1 more	GUncertain significance
Select item 1260667	NM_002168.4(IDH2):c.1272-31A>G	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452078	NM_002168.4(IDH2):c.1156G>C (p.Asp386His)	IDH2 (D334H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158663	NM_002168.4(IDH2):c.1050C>T (p.Thr350=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2 +2 more	GBenign/Likely benign
Select item 3363818	NM_002168.4(IDH2):c.1022C>T (p.Thr341Met)	IDH2 (T211M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158669	NM_002168.4(IDH2):c.996C>T (p.Ser332=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2 +2 more	GBenign/Likely benign
Select item 158668	NM_002168.4(IDH2):c.993G>A (p.Thr331=)	IDH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1270720	NM_002168.4(IDH2):c.968-158A>G	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158667	NM_002168.4(IDH2):c.939A>G (p.Gly313=)	IDH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1707805	NM_002168.4(IDH2):c.913G>C (p.Val305Leu)	IDH2 (V175L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663645	NM_002168.4(IDH2):c.863G>T (p.Arg288Leu)	IDH2 (R158L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662791	NM_002168.4(IDH2):c.823A>C (p.Lys275Gln)	IDH2 (K145Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231716	NM_002168.4(IDH2):c.815+41C>T	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308347	NM_002168.4(IDH2):c.805A>G (p.Ile269Val)	IDH2 (I139V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191573	NM_002168.4(IDH2):c.743T>G (p.Met248Arg)	IDH2 (M118R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691755	NM_002168.4(IDH2):c.715G>A (p.Ala239Thr)	IDH2 (A109T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435490	NM_002168.4(IDH2):c.695C>T (p.Ala232Val)	IDH2 (A180V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1267395	NM_002168.4(IDH2):c.679-72C>G	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295151	NM_002168.4(IDH2):c.679-85G>T	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225446	NM_002168.4(IDH2):c.679-218dup	IDH2	Duplication (intron variant)	not provided	GBenign
Select item 1288689	NM_002168.4(IDH2):c.679-248_679-246dup	IDH2	Duplication (intron variant)	not provided	GBenign
Select item 1283560	NM_002168.4(IDH2):c.679-248_679-247dup	IDH2	Duplication (intron variant)	not provided	GBenign
Select item 1235594	NM_002168.4(IDH2):c.679-287_679-286del	IDH2	Deletion (intron variant)	not provided	GBenign
Select item 211176	NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)	IDH2 (D173N +2 more)	Single nucleotide variant (missense variant)	Enchondromatosis +3 more	GConflicting classifications of pathogenicity
Select item 1043109	NM_002168.4(IDH2):c.662T>C (p.Met221Thr)	IDH2 (M221T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310584	NM_002168.4(IDH2):c.532C>T (p.Gln178Ter)	IDH2 (Q126* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1302940	NM_002168.4(IDH2):c.463A>C (p.Lys155Gln)	IDH2 (K103Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430078	NM_002168.4(IDH2):c.435dup (p.Thr146fs)	IDH2 (T94fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 14716	NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	IDH2 (R140Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 375989	NM_002168.4(IDH2):c.418C>T (p.Arg140Trp)	IDH2 (R140W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281471	NM_002168.4(IDH2):c.374-192T>G	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278673	NM_002168.4(IDH2):c.373+295T>C	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429624	NM_002168.4(IDH2):c.265C>T (p.Arg89Cys)	IDH2 (R37C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1237553	NM_002168.4(IDH2):c.207+186G>A	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262668	NM_002168.4(IDH2):c.207+100del	IDH2	Deletion (intron variant)	not provided	GBenign
Select item 1800932	NM_002168.4(IDH2):c.145C>G (p.Pro49Ala)	IDH2 (P49A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1225350	NM_002168.4(IDH2):c.116-65T>C	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282977	NM_002168.4(IDH2):c.116-119del	IDH2	Deletion (intron variant)	not provided	GBenign
Select item 1235498	NM_002168.4(IDH2):c.115+243C>T	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182079	NM_002168.4(IDH2):c.115+104G>A	IDH2, IDH2-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3373160	NM_002168.4(IDH2):c.115T>C (p.Tyr39His)	IDH2, IDH2-DT (Y39H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1305337	NM_002168.4(IDH2):c.98A>G (p.Glu33Gly)	IDH2, IDH2-DT (E33G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1678685	NM_002168.4(IDH2):c.67C>T (p.Pro23Ser)	IDH2, IDH2-DT (P23S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2505792	NM_002168.4(IDH2):c.5C>G (p.Ala2Gly)	IDH2-DT, IDH2 (A2G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1245141	NC_000015.10:g.90102589T>A	IDH2, IDH2-DT	Single nucleotide variant	not provided	GBenign
Select item 1244495	NC_000015.10:g.90102784del	IDH2, IDH2-DT	Deletion	not provided	GBenign
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 3361114	NM_002168.4(IDH2):c.1272T>A (p.Asn424Lys)	IDH2 (N294K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 51