ClinVar for Gene (Select 5160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3542817	NM_001001671.4(MAP3K15):c.3682A>G (p.Ile1228Val)	MAP3K15, PDHA1 (I1228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3416478	NM_000284.4(PDHA1):c.1060A>G (p.Thr354Ala)	PDHA1 (T354A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3391948	GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1	ACE2, ACOT9 +162 more	Copy number loss	not provided	GPathogenic
Select item 3391945	GRCh37/hg19 Xp22.33-21.3(chrX:2631638-25008584)x1	ACE2, ACOT9 +105 more	Copy number loss	not provided	GPathogenic
Select item 3389435	NM_001001671.4(MAP3K15):c.3867C>A (p.Leu1289=)	PDHA1, MAP3K15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3384758	NM_000284.4(PDHA1):c.462C>T (p.His154=)	PDHA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3375522	NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)	PDHA1 (R214G +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3375156	NM_000284.4(PDHA1):c.960_1008+33dup	PDHA1	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 3370682	NM_000284.4(PDHA1):c.359C>T (p.Ala120Val)	PDHA1 (A120V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370375	GRCh38/hg38 Xp22.13-22.12(chrX:19082709-19533992)x3	ADGRG2, LOC130068003 +4 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3368110	NM_000284.4(PDHA1):c.526G>A (p.Gly176Arg)	PDHA1 (G176R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366665	NM_000284.4(PDHA1):c.677G>A (p.Arg226His)	PDHA1 (R195H +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GLikely pathogenic
Select item 3365215	NM_000284.4(PDHA1):c.584G>A (p.Gly195Asp)	PDHA1 (G195D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3345013	NM_000284.4(PDHA1):c.884_887dup (p.Asp296delinsGluTer)	PDHA1	Duplication (nonsense)	PDHA1-related disorder	GLikely pathogenic
Select item 3342926	NM_000284.4(PDHA1):c.931A>G (p.Arg311Gly)	PDHA1 (R280G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342396	NM_000284.4(PDHA1):c.217C>T (p.Arg73Ter)	PDHA1 (R111* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3341440	NM_000284.4(PDHA1):c.1088A>C (p.Glu363Ala)	PDHA1 (E332A +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 3340647	NM_000284.4(PDHA1):c.783C>A (p.Cys261Ter)	PDHA1 (C230* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337447	NM_000284.4(PDHA1):c.313G>A (p.Glu105Lys)	PDHA1 (E105K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3293029	NM_001001671.4(MAP3K15):c.3709G>A (p.Gly1237Arg)	MAP3K15, PDHA1 (G1237R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293024	NM_001001671.4(MAP3K15):c.3709G>T (p.Gly1237Trp)	MAP3K15, PDHA1 (G1237W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293022	NM_001001671.4(MAP3K15):c.3839T>C (p.Leu1280Pro)	MAP3K15, PDHA1 (L1280P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258105	NM_000284.4(PDHA1):c.66_67del (p.Arg22fs)	PDHA1 (R22fs +1 more)	Microsatellite (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 3257428	NM_000284.4(PDHA1):c.476A>T (p.Asn159Ile)	PDHA1 (N159I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3251977	NM_000284.4(PDHA1):c.689G>C (p.Gly230Ala)	PDHA1 (G199A +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 3246884	NC_000023.10:g.(?_19362156)_(19613138_?)dup	MAP3K15, PDHA1 +1 more	Duplication	not provided	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239519	NM_000284.4(PDHA1):c.643A>T (p.Lys215Ter)	PDHA1 (K184* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3220928	NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis)	PDHA1	Duplication (inframe_insertion)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 3122906	NM_001001671.4(MAP3K15):c.3856C>T (p.Arg1286Trp)	MAP3K15, PDHA1 (R1286W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122905	NM_001001671.4(MAP3K15):c.3808G>T (p.Asp1270Tyr)	MAP3K15, PDHA1 (D1270Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122904	NM_001001671.4(MAP3K15):c.3793G>A (p.Gly1265Ser)	MAP3K15, PDHA1 (G1265S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122903	NM_001001671.4(MAP3K15):c.3773T>C (p.Ile1258Thr)	MAP3K15, PDHA1 (I1258T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3075682	NM_000284.4(PDHA1):c.133delinsATTTCTGGG (p.Arg45fs)	PDHA1 (R45fs +1 more)	Indel (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 3063910	NM_000284.4(PDHA1):c.510+19dup	PDHA1	Duplication (intron variant)	not specified	GLikely benign
Select item 3063875	NM_000284.4(PDHA1):c.328C>G (p.Pro110Ala)	PDHA1 (P110A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062013	NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)	PDHA1 (I125T +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 3060782	NM_000284.4(PDHA1):c.1089_1092dup	MAP3K15, PDHA1	Duplication (3 prime UTR variant)	PDHA1-related disorder	GLikely benign
Select item 3053046	NM_000284.4(PDHA1):c.759+23C>T	PDHA1	Single nucleotide variant (intron variant)	PDHA1-related disorder	GLikely benign
Select item 3052383	NM_000284.4(PDHA1):c.*90T>A	PDHA1	Single nucleotide variant (3 prime UTR variant)	PDHA1-related disorder	GLikely benign
Select item 3041726	NM_000284.4(PDHA1):c.*83AATGAAATTC[1]	PDHA1	Microsatellite (3 prime UTR variant)	PDHA1-related disorder	GLikely benign
Select item 3027229	NM_000284.4(PDHA1):c.1166T>C (p.Val389Ala)	PDHA1 (V358A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025238	NM_000284.4(PDHA1):c.796A>G (p.Thr266Ala)	PDHA1 (T235A +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3013303	NM_000284.4(PDHA1):c.117+15A>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 3005015	NM_000284.4(PDHA1):c.1009-16G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 3000032	NM_000284.4(PDHA1):c.57+17G>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2992773	NM_000284.4(PDHA1):c.760-19C>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2992459	NM_000284.4(PDHA1):c.1008+4C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2988326	NM_000284.4(PDHA1):c.832-9_832-8del	PDHA1	Deletion (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2986675	NM_000284.4(PDHA1):c.645A>G (p.Lys215=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2978428	NM_000284.4(PDHA1):c.105A>G (p.Thr35=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2977286	NM_000284.4(PDHA1):c.990C>T (p.Ala330=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2974416	NM_000284.4(PDHA1):c.900-18_900-15dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2957233	NM_000284.4(PDHA1):c.211G>A (p.Val71Ile)	PDHA1 (V71I +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2956707	NM_000284.4(PDHA1):c.1009-12_1009-9dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2919407	NM_000284.4(PDHA1):c.900-8C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2918487	NM_000284.4(PDHA1):c.760-19C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2918271	NM_000284.4(PDHA1):c.511-12C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2917495	NM_000284.4(PDHA1):c.511-19C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2917378	NM_000284.4(PDHA1):c.760-11T>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2915239	NM_000284.4(PDHA1):c.900-18_900-14dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2914397	NM_000284.4(PDHA1):c.58-18A>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2913526	NM_000284.4(PDHA1):c.1009-16G>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2912696	NM_000284.4(PDHA1):c.1009-16_1009-14dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2911834	NM_000284.4(PDHA1):c.832-14C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2910408	NM_000284.4(PDHA1):c.292-16C>T	PDHA1	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2908224	NM_000284.4(PDHA1):c.759+21dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2907112	NM_000284.4(PDHA1):c.831+16C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2902288	NM_000284.4(PDHA1):c.760-14dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2901646	NM_000284.4(PDHA1):c.419-20G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2892486	NM_000284.4(PDHA1):c.900-10del	PDHA1	Deletion (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2891116	NM_000284.4(PDHA1):c.831+7C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2889636	NM_000284.4(PDHA1):c.1009-31_1009-15del	PDHA1	Deletion (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2889600	NM_000284.4(PDHA1):c.604-14G>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2883404	NM_000284.4(PDHA1):c.759+26GGCCAA[5]	PDHA1	Microsatellite (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2883257	NM_000284.4(PDHA1):c.831+18T>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2879750	NM_000284.4(PDHA1):c.837C>T (p.Pro279=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2872368	NM_000284.4(PDHA1):c.1169_1172dup (p.Ter391=)	PDHA1	Duplication (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2866977	NM_000284.4(PDHA1):c.534T>C (p.Ala178=)	PDHA1	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2863937	NM_000284.4(PDHA1):c.899+2T>C	PDHA1	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2856416	NM_000284.4(PDHA1):c.681T>C (p.Tyr227=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2850189	NM_000284.4(PDHA1):c.1065C>A (p.Ala355=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2840986	NM_000284.4(PDHA1):c.900-12_936dup	PDHA1	Duplication (splice acceptor variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2837835	NM_000284.4(PDHA1):c.899+15A>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2829146	NM_000284.4(PDHA1):c.1009-17_1009-12del	PDHA1	Deletion (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2828484	NM_000284.4(PDHA1):c.354C>T (p.Tyr118=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2823389	NM_000284.4(PDHA1):c.696T>A (p.Ser232=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2822006	NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)	PDHA1 (S16F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2816693	NM_000284.4(PDHA1):c.778C>T (p.Leu260=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2802880	NM_000284.4(PDHA1):c.516C>T (p.Pro172=)	PDHA1	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2801764	NM_000284.4(PDHA1):c.760-5A>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2801658	NM_000284.4(PDHA1):c.844A>T (p.Met282Leu)	PDHA1 (M251L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2796153	NM_000284.4(PDHA1):c.603+9G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2795237	NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)	PDHA1 (F212L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 2792676	NM_000284.4(PDHA1):c.832-14C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2791663	NM_000284.4(PDHA1):c.759+11C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign

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