ClinVar for Gene (Select 3418) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3361114	NM_002168.4(IDH2):c.1272T>A (p.Asn424Lys)	IDH2 (N294K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3285249	NM_002168.4(IDH2):c.53G>A (p.Arg18Gln)	IDH2, IDH2-DT (R18Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3243820	NC_000015.9:g.(?_90645488)_(90645622_?)dup	IDH2	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3237380	NM_002168.4(IDH2):c.423_424insT (p.Ile142fs)	IDH2 (I12fs +2 more)	Insertion (frameshift variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3233774	NM_002168.4(IDH2):c.439G>C (p.Val147Leu)	IDH2 (V147L +2 more)	Single nucleotide variant (missense variant)	not specified	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 3108020	NM_002168.4(IDH2):c.82G>A (p.Ala28Thr)	IDH2, IDH2-DT (A28T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
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 3034645	NM_002168.4(IDH2):c.261A>C (p.Pro87=)	IDH2	Single nucleotide variant (synonymous variant +1 more)	IDH2-related disorder	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 2989899	NM_002168.4(IDH2):c.62G>A (p.Trp21Ter)	IDH2, IDH2-DT (W21*)	Single nucleotide variant (non-coding transcript variant +2 more)	D-2-hydroxyglutaric aciduria 2	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 2913808	NM_002168.4(IDH2):c.608G>A (p.Gly203Asp)	IDH2 (G151D +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2913525	NM_002168.4(IDH2):c.535-13C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
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 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 2904076	NM_002168.4(IDH2):c.1178+8T>C	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2889118	NM_002168.4(IDH2):c.535-11T>C	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
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 2867341	NM_002168.4(IDH2):c.475C>T (p.Arg159Cys)	IDH2 (R159C +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2863187	NM_002168.4(IDH2):c.638C>T (p.Pro213Leu)	IDH2 (P83L +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 2813507	NM_002168.4(IDH2):c.629A>G (p.Tyr210Cys)	IDH2 (Y80C +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	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 2777122	NM_002168.4(IDH2):c.742A>G (p.Met248Val)	IDH2 (M248V +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2733127	NM_002168.4(IDH2):c.266G>A (p.Arg89His)	IDH2 (R89H +1 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 2726597	NM_002168.4(IDH2):c.1081-9dup	IDH2	Duplication (intron variant)	D-2-hydroxyglutaric aciduria 2	GBenign
Select item 2720715	NM_002168.4(IDH2):c.388A>C (p.Lys130Gln)	IDH2 (K130Q +1 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2717827	NM_002168.4(IDH2):c.104C>A (p.Pro35Gln)	IDH2, IDH2-DT (P35Q)	Single nucleotide variant (non-coding transcript variant +2 more)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2707852	NM_002168.4(IDH2):c.731G>C (p.Trp244Ser)	IDH2 (W114S +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 2694088	NM_002168.4(IDH2):c.661A>G (p.Met221Val)	IDH2 (M221V +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2691697	NM_002168.4(IDH2):c.640G>A (p.Ala214Thr)	IDH2 (A162T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691696	NM_002168.4(IDH2):c.1271+3G>A	IDH2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2691259	NM_002168.4(IDH2):c.516G>T (p.Arg172Ser)	IDH2 (R120S +2 more)	Single nucleotide variant (missense variant)	Vascular malformation	GPathogenic
Select item 2664273	NM_002168.4(IDH2):c.-5T>C	IDH2, IDH2-DT	Single nucleotide variant (5 prime UTR variant)	Lymphatic malformation	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 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 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2570909	NM_002168.4(IDH2):c.679-7C>G	IDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
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 2456838	NM_002168.4(IDH2):c.742A>C (p.Met248Leu)	IDH2 (M196L +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2 +1 more	GUncertain significance
Select item 2424362	NC_000015.9:g.(?_90627498)_(90634896_?)dup	IDH2	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 2408160	NM_002168.4(IDH2):c.121G>A (p.Asp41Asn)	IDH2 (D41N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2324078	NM_002168.4(IDH2):c.205A>G (p.Lys69Glu)	IDH2 (K69E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200344	NM_002168.4(IDH2):c.519C>T (p.His173=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2194730	NM_002168.4(IDH2):c.338G>T (p.Cys113Phe)	IDH2 (C113F +1 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2181580	NM_002168.4(IDH2):c.88A>T (p.Thr30Ser)	IDH2, IDH2-DT (T30S)	Single nucleotide variant (non-coding transcript variant +2 more)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2178189	NM_002168.4(IDH2):c.69G>C (p.Pro23=)	IDH2, IDH2-DT	Single nucleotide variant (non-coding transcript variant +2 more)	D-2-hydroxyglutaric aciduria 2	GLikely benign
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 2169068	NM_002168.4(IDH2):c.534+19G>C	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2167822	NM_002168.4(IDH2):c.676G>A (p.Glu226Lys)	IDH2 (E174K +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2158232	NM_002168.4(IDH2):c.21C>T (p.Val7=)	IDH2, IDH2-DT	Single nucleotide variant (non-coding transcript variant +2 more)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 2156042	NM_002168.4(IDH2):c.148G>A (p.Val50Met)	IDH2 (V50M)	Single nucleotide variant (5 prime UTR variant +2 more)	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 2150826	NM_002168.4(IDH2):c.116-19T>G	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
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 2147992	NM_002168.4(IDH2):c.140C>T (p.Ala47Val)	IDH2 (A47V)	Single nucleotide variant (5 prime UTR variant +2 more)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 2135666	NM_002168.4(IDH2):c.407A>T (p.Asn136Ile)	IDH2 (N84I +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
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 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 2126795	NM_002168.4(IDH2):c.657G>A (p.Met219Ile)	IDH2 (M167I +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 2112861	NM_002168.4(IDH2):c.582G>A (p.Met194Ile)	IDH2 (M142I +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2103277	NM_002168.4(IDH2):c.675C>A (p.Asp225Glu)	IDH2 (D95E +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2066462	NM_002168.4(IDH2):c.76C>T (p.Leu26=)	IDH2, IDH2-DT	Single nucleotide variant (non-coding transcript variant +2 more)	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 2044283	NM_002168.4(IDH2):c.255G>T (p.Gly85=)	IDH2	Single nucleotide variant (synonymous variant +1 more)	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 2016243	NM_002168.4(IDH2):c.815+19A>G	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
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 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 1991554	NM_002168.4(IDH2):c.816-19C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1990986	NM_002168.4(IDH2):c.679-16G>A	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1968397	NM_002168.4(IDH2):c.432G>T (p.Gly144=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
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 1964336	NM_002168.4(IDH2):c.588C>T (p.Phe196=)	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 1930550	NM_002168.4(IDH2):c.426C>A (p.Ile142=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 1927900	NM_002168.4(IDH2):c.425T>C (p.Ile142Thr)	IDH2 (I12T +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 1917553	NM_002168.4(IDH2):c.1178+20C>T	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
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 1879305	NM_002168.4(IDH2):c.47G>A (p.Gly16Asp)	IDH2, IDH2-DT (G16D)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
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 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 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 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

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