ClinVar for Gene (Select 3418) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4684029	NM_002168.4(IDH2):c.115+7G>A	IDH2, IDH2-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 4682866	GRCh37/hg19 15q26.1-26.3(chr15:90569376-102369410)x1	ADAMTS17, ALDH1A3 +48 more	Copy number loss	not provided	GPathogenic
Select item 4621918	NM_002168.4(IDH2):c.520G>A (p.Ala174Thr)	IDH2 (A122T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4621917	NM_002168.4(IDH2):c.1014T>G (p.Asp338Glu)	IDH2 (D286E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4621916	NM_002168.4(IDH2):c.506C>T (p.Thr169Ile)	IDH2 (T39I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4530768	NM_002168.4(IDH2):c.448G>C (p.Glu150Gln)	IDH2 (E150Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4406979	NM_002168.4(IDH2):c.374-7C>G	IDH2	Single nucleotide variant (intron variant)	Not Specified
Select item 4406978	NM_002168.4(IDH2):c.967+189G>A	IDH2	Single nucleotide variant (intron variant)	Not Specified
Select item 4406977	NM_002168.4(IDH2):c.1081-60C>G	IDH2	Single nucleotide variant (intron variant)	Not Specified
Select item 4406976	NM_002168.4(IDH2):c.1247C>T (p.Ala416Val)	IDH2 (A416V +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4406975	NM_002168.4(IDH2):c.1271+192C>G	IDH2	Single nucleotide variant (intron variant)	Not Specified
Select item 4406974	NM_002168.4(IDH2):c.1272-5T>A	IDH2	Single nucleotide variant (intron variant)	Not Specified
Select item 4279410	GRCh37/hg19 15q24.1-26.3(chr15:73506509-102429112)x3	ABHD17C, ABHD2 +200 more	Copy number gain	not specified	GLikely pathogenic
Select item 4273418	NM_002168.4(IDH2):c.1231A>T (p.Met411Leu)	IDH2 (M281L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4075026	NM_002168.4(IDH2):c.712T>C (p.Tyr238His)	IDH2 (Y108H +2 more)	Single nucleotide variant (missense variant)	Cleft palate	GUncertain significance
Select item 4072628	NM_002168.4(IDH2):c.500C>G (p.Pro167Arg)	IDH2 (P115R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4072405	NM_002168.4(IDH2):c.1279C>G (p.Leu427Val)	IDH2 (L297V +2 more)	Single nucleotide variant (missense variant)	Cleft palate	GUncertain significance
Select item 4070686	NM_002168.4(IDH2):c.646G>T (p.Gly216Cys)	IDH2 (G164C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4037182	NM_002168.4(IDH2):c.914T>C (p.Val305Ala)	IDH2 (V175A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4037181	NM_002168.4(IDH2):c.1163A>C (p.Asn388Thr)	IDH2 (N258T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4037180	NM_002168.4(IDH2):c.1144C>T (p.Arg382Trp)	IDH2 (R330W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4037179	NM_002168.4(IDH2):c.95A>C (p.Gln32Pro)	IDH2, IDH2-DT (Q32P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4037177	NM_002168.4(IDH2):c.1130G>A (p.Arg377His)	IDH2 (R325H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3901444	NM_002168.4(IDH2):c.56C>A (p.Pro19Gln)	IDH2, IDH2-DT (P19Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3899737	NM_002168.4(IDH2):c.1076A>G (p.Gln359Arg)	IDH2 (Q229R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3891368	NM_002168.4(IDH2):c.877A>T (p.Met293Leu)	IDH2 (M241L +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3859354	NM_002168.4(IDH2):c.622G>C (p.Glu208Gln)	IDH2 (E78Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3859353	NM_002168.4(IDH2):c.262A>C (p.Asn88His)	IDH2 (N36H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3779756	NM_002168.4(IDH2):c.748A>G (p.Thr250Ala)	IDH2 (T120A +2 more)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance
Select item 3774603	NM_002168.4(IDH2):c.394T>C (p.Trp132Arg)	IDH2 (W132R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3713185	NM_002168.4(IDH2):c.1315G>A (p.Asp439Asn)	IDH2 (D387N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3711956	NM_002168.4(IDH2):c.365G>C (p.Arg122Pro)	IDH2 (R70P +1 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3705187	NM_002168.4(IDH2):c.645C>T (p.Gly215=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 3701146	NM_002168.4(IDH2):c.513C>T (p.Gly171=)	IDH2	Single nucleotide variant (synonymous variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3699158	NM_002168.4(IDH2):c.351C>T (p.Thr117=)	IDH2	Single nucleotide variant (synonymous variant +1 more)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 3690371	NM_002168.4(IDH2):c.1096A>T (p.Thr366Ser)	IDH2 (T314S +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3687260	NM_002168.4(IDH2):c.253G>A (p.Gly85Arg)	IDH2 (G85R +1 more)	Single nucleotide variant (missense variant +1 more)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3674776	NM_002168.4(IDH2):c.1152G>C (p.Lys384Asn)	IDH2 (K332N +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3649204	NM_002168.4(IDH2):c.827C>T (p.Thr276Ile)	IDH2 (T146I +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3626260	NM_002168.4(IDH2):c.1271+13G>C	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3624903	NM_002168.4(IDH2):c.115+14G>A	IDH2, IDH2-DT	Single nucleotide variant (non-coding transcript variant +1 more)	D-2-hydroxyglutaric aciduria 2	GLikely benign
Select item 3616279	NM_002168.4(IDH2):c.373+11G>A	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3609553	NM_002168.4(IDH2):c.722A>G (p.Gln241Arg)	IDH2 (Q111R +2 more)	Single nucleotide variant (missense variant)	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 3527526	NM_002168.4(IDH2):c.173T>G (p.Met58Arg)	IDH2 (M58R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3527525	NM_002168.4(IDH2):c.1186C>A (p.Gln396Lys)	IDH2 (Q344K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 +1 more	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)	Inborn genetic diseases +1 more	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)	D-2-hydroxyglutaric aciduria 2 +1 more	GUncertain significance
Select item 2691696	NM_002168.4(IDH2):c.1271+3G>A	IDH2	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 2 +1 more	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)	D-2-hydroxyglutaric aciduria 2 +1 more	GLikely benign
Select item 2505792	NM_002168.4(IDH2):c.5C>G (p.Ala2Gly)	IDH2, IDH2-DT (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	ARRDC4, ASB7 +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	C15orf40, C15orf61 +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)	not provided	GUncertain significance
Select item 2456838	NM_002168.4(IDH2):c.742A>C (p.Met248Leu)	IDH2 (M196L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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	FURIN, POLG +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

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