IDH2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
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 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 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 149245	GRCh38/hg38 15q26.1(chr15:89821144-90216589)x1	AP3S2, ARPIN +29 more	Copy number loss	See cases	GLikely benign
Select item 435487	NM_002168.4(IDH2):c.*10C>T	IDH2	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2918612	NM_002168.4(IDH2):c.1359G>A (p.Ter453=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2695575	NM_002168.4(IDH2):c.1358A>G (p.Ter453Trp)	IDH2	Single nucleotide variant (stop lost)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1582248	NM_002168.4(IDH2):c.1356G>A (p.Gln452=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 934685	NM_002168.4(IDH2):c.1354C>G (p.Gln452Glu)	IDH2 (Q400E +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1544065	NM_002168.4(IDH2):c.1345C>T (p.Leu449=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2858919	NM_002168.4(IDH2):c.1325A>G (p.Lys442Arg)	IDH2 (K312R +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 158664	NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)	IDH2 (T383M +2 more)	Single nucleotide variant (missense variant)	Enchondromatosis +3 more	GConflicting classifications of pathogenicity
Select item 791742	NM_002168.4(IDH2):c.1302C>G (p.Thr434=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2 +1 more	GBenign
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 1551280	NM_002168.4(IDH2):c.1284C>T (p.Asn428=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GBenign
Select item 1260667	NM_002168.4(IDH2):c.1272-31A>G	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1609096	NM_002168.4(IDH2):c.1271+11T>C	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2032255	NM_002168.4(IDH2):c.1271+10C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2691696	NM_002168.4(IDH2):c.1271+3G>A	IDH2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2177766	NM_002168.4(IDH2):c.1266C>T (p.Leu422=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2498257	NM_002168.4(IDH2):c.1261G>A (p.Gly421Ser)	IDH2 (G291S +2 more)	Single nucleotide variant (missense variant)	Teratoma	GUncertain significance
Select item 1010519	NM_002168.4(IDH2):c.1259A>T (p.His420Leu)	IDH2 (H290L +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1922679	NM_002168.4(IDH2):c.1255A>G (p.Ile419Val)	IDH2 (I289V +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2155666	NM_002168.4(IDH2):c.1248G>A (p.Ala416=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 3108019	NM_002168.4(IDH2):c.1228G>A (p.Ala410Thr)	IDH2 (A280T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2888329	NM_002168.4(IDH2):c.1210G>C (p.Glu404Gln)	IDH2 (E274Q +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2887011	NM_002168.4(IDH2):c.1206C>T (p.Cys402=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 211174	NM_002168.4(IDH2):c.1194G>A (p.Leu398=)	IDH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2148867	NM_002168.4(IDH2):c.1189A>G (p.Met397Val)	IDH2 (M267V +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1347799	NM_002168.4(IDH2):c.1179-3T>A	IDH2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1917553	NM_002168.4(IDH2):c.1178+20C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2904076	NM_002168.4(IDH2):c.1178+8T>C	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1406554	NM_002168.4(IDH2):c.1178G>A (p.Arg393Lys)	IDH2 (R263K +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1042645	NM_002168.4(IDH2):c.1171C>T (p.Leu391Phe)	IDH2 (L261F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1597505	NM_002168.4(IDH2):c.1167A>G (p.Gln389=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
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 761934	NM_002168.4(IDH2):c.1146G>A (p.Arg382=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1490755	NM_002168.4(IDH2):c.1143C>G (p.His381Gln)	IDH2 (H381Q +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2906701	NM_002168.4(IDH2):c.1131T>C (p.Arg377=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 641910	NM_002168.4(IDH2):c.1129C>T (p.Arg377Cys)	IDH2 (R377C +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1168846	NM_002168.4(IDH2):c.1101C>T (p.Asn367=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GBenign
Select item 2906975	NM_002168.4(IDH2):c.1084C>T (p.Arg362Trp)	IDH2 (R232W +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1381906	NM_002168.4(IDH2):c.1081-3C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2726597	NM_002168.4(IDH2):c.1081-9dup	IDH2	Duplication (intron variant)	D-2-hydroxyglutaric aciduria 2	GBenign
Select item 2415031	NM_002168.4(IDH2):c.1081-8G>A	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2142990	NM_002168.4(IDH2):c.1081-9C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GBenign
Select item 1597932	NM_002168.4(IDH2):c.1081-13C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GBenign
Select item 2129228	NM_002168.4(IDH2):c.1080+18G>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2061487	NM_002168.4(IDH2):c.1059C>T (p.Arg353=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1939179	NM_002168.4(IDH2):c.1051G>A (p.Val351Ile)	IDH2 (V221I +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 828158	NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr)	IDH2 (A217T +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GLikely pathogenic
Select item 211173	NM_002168.4(IDH2):c.1038C>T (p.Ala346=)	IDH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1559314	NM_002168.4(IDH2):c.1023G>A (p.Thr341=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely 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 2014624	NM_002168.4(IDH2):c.1022C>A (p.Thr341Lys)	IDH2 (T211K +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1337154	NM_002168.4(IDH2):c.1017G>C (p.Gly339=)	IDH2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1541594	NM_002168.4(IDH2):c.1011T>G (p.Pro337=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 3007672	NM_002168.4(IDH2):c.1010C>T (p.Pro337Leu)	IDH2 (P207L +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 789533	NM_002168.4(IDH2):c.1003G>A (p.Val335Ile)	IDH2 (V205I +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 425075	NM_002168.4(IDH2):c.997G>A (p.Val333Ile)	IDH2 (V281I +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 728213	NM_002168.4(IDH2):c.968-8C>T	IDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729862	NM_002168.4(IDH2):c.968-10T>C	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1270720	NM_002168.4(IDH2):c.968-158A>G	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1596882	NM_002168.4(IDH2):c.967+18del	IDH2	Deletion (intron variant)	D-2-hydroxyglutaric aciduria 2	GBenign
Select item 1054473	NM_002168.4(IDH2):c.967+2T>C	IDH2	Single nucleotide variant (splice donor variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 758347	NM_002168.4(IDH2):c.942T>C (p.Asp314=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	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 949037	NM_002168.4(IDH2):c.923G>C (p.Cys308Ser)	IDH2 (C256S +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 1384307	NM_002168.4(IDH2):c.913G>A (p.Val305Met)	IDH2 (V305M +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2116192	NM_002168.4(IDH2):c.905G>C (p.Gly302Ala)	IDH2 (G250A +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1078395	NM_002168.4(IDH2):c.903G>A (p.Ser301=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 435488	NM_002168.4(IDH2):c.890T>C (p.Val297Ala)	IDH2 (V245A +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2 +1 more	GLikely benign
Select item 1030528	NM_002168.4(IDH2):c.877A>C (p.Met293Leu)	IDH2 (M163L +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	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 2004233	NM_002168.4(IDH2):c.855T>C (p.Tyr285=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2624340	NM_002168.4(IDH2):c.854A>G (p.Tyr285Cys)	IDH2 (Y155C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2796214	NM_002168.4(IDH2):c.849C>G (p.Ile283Met)	IDH2 (I153M +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 657276	NM_002168.4(IDH2):c.844A>G (p.Lys282Glu)	IDH2 (K152E +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2 +1 more	GUncertain significance
Select item 3108021	NM_002168.4(IDH2):c.842A>G (p.Asn281Ser)	IDH2 (N151S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1967232	NM_002168.4(IDH2):c.840G>C (p.Lys280Asn)	IDH2 (K150N +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	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 1900729	NM_002168.4(IDH2):c.821A>G (p.Tyr274Cys)	IDH2 (Y144C +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1991554	NM_002168.4(IDH2):c.816-19C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1231716	NM_002168.4(IDH2):c.815+41C>T	IDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2016243	NM_002168.4(IDH2):c.815+19A>G	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2128222	NM_002168.4(IDH2):c.807dup (p.Phe270fs)	IDH2 (F270fs +2 more)	Duplication (frameshift variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 211177	NM_002168.4(IDH2):c.782G>A (p.Arg261His)	IDH2 (R209H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign

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