"GeneDx"[submitter] AND "AKT3"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 59378	GRCh38/hg38 1q43-44(chr1:243225391-243572999)x1	AKT3, CEP170 +6 more	Copy number loss	See cases	GUncertain significance
Select item 59396	GRCh38/hg38 1q43-44(chr1:243395234-243719262)x1	AKT3, LOC110120698 +4 more	Copy number loss	See cases	GUncertain significance
Select item 381812	NM_006642.5(SDCCAG8):c.1987C>T (p.Leu663=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +2 more	GLikely benign
Select item 1288833	NM_181690.2(AKT3):c.*6+266A>G	SDCCAG8, AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216643	NM_181690.2(AKT3):c.*6+147T>C	SDCCAG8, AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183513	NM_181690.2(AKT3):c.*6+96dup	AKT3, SDCCAG8	Duplication (intron variant)	not provided	GBenign
Select item 296917	NM_005465.7(AKT3):c.5398_5402dup	AKT3, SDCCAG8	Duplication (3 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia +2 more	GConflicting classifications of pathogenicity
Select item 387204	NM_005465.7(AKT3):c.*7T>C	AKT3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 513545	NM_005465.7(AKT3):c.1416C>G (p.Ser472=)	AKT3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 39814	NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)	AKT3 (R465W)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 772787	NM_005465.7(AKT3):c.1359T>C (p.Asp453=)	AKT3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 807366	NM_005465.7(AKT3):c.1330A>G (p.Ile444Val)	AKT3 (I444V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2776264	NM_005465.7(AKT3):c.1271C>T (p.Pro424Leu)	AKT3 (P424L)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GUncertain significance
Select item 1212895	NM_005465.7(AKT3):c.1252-120G>A	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152688	GRCh38/hg38 1q44(chr1:243514304-243527991)x3	AKT3	Copy number gain	See cases	GLikely benign
Select item 145215	GRCh38/hg38 1q44(chr1:243520743-243531432)x3	AKT3	Copy number gain	See cases	GBenign
Select item 679980	NM_005465.7(AKT3):c.1251+49A>G	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2663357	NM_005465.7(AKT3):c.1180G>A (p.Asp394Asn)	AKT3 (D394N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270870	NM_005465.7(AKT3):c.1164-172C>T	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384482	NM_005465.7(AKT3):c.1163+17G>A	AKT3	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GLikely benign
Select item 709191	NM_005465.7(AKT3):c.1044C>T (p.Asn348=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GBenign
Select item 422166	NM_005465.7(AKT3):c.964G>A (p.Asp322Asn)	AKT3 (D322N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1206739	NM_005465.7(AKT3):c.949-222dup	AKT3	Duplication (intron variant)	not provided	GLikely benign
Select item 1223181	NM_005465.7(AKT3):c.949-237del	AKT3	Deletion (intron variant)	not provided	GLikely benign
Select item 1196293	NM_005465.7(AKT3):c.948+105A>G	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388027	NM_005465.7(AKT3):c.948+14C>G	AKT3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 513433	NM_005465.7(AKT3):c.906C>T (p.Thr302=)	AKT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 513432	NM_005465.7(AKT3):c.882A>G (p.Lys294=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1803609	NM_005465.7(AKT3):c.839A>G (p.Asp280Gly)	AKT3 (D280G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489265	NM_005465.7(AKT3):c.820-10T>G	AKT3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 386558	NM_005465.7(AKT3):c.820-18A>G	AKT3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 677547	NM_005465.7(AKT3):c.819+189G>A	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292871	NM_005465.7(AKT3):c.819+17del	AKT3	Deletion (intron variant)	not provided	GBenign
Select item 1241032	NM_005465.7(AKT3):c.807C>T (p.Tyr269=)	AKT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1219615	NM_005465.7(AKT3):c.696+209C>T	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675467	NM_005465.7(AKT3):c.696+147G>A	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515459	NM_005465.7(AKT3):c.628-18dup	AKT3	Duplication (intron variant)	not specified	GLikely benign
Select item 677969	NM_005465.7(AKT3):c.628-25C>T	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202506	NM_005465.7(AKT3):c.628-52_628-47del	AKT3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1204155	NM_005465.7(AKT3):c.628-220_628-215del	AKT3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1185932	NM_005465.7(AKT3):c.628-227A>G	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235494	NM_005465.7(AKT3):c.627+159G>T	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678376	NM_005465.7(AKT3):c.627+123G>A	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679811	NM_005465.7(AKT3):c.627+114G>A	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216175	NM_005465.7(AKT3):c.562-95C>T	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302550	NM_005465.7(AKT3):c.520T>C (p.Tyr174His)	AKT3 (Y174H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252383	NM_005465.7(AKT3):c.497G>A (p.Arg166Gln)	AKT3 (R166Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426616	NM_005465.7(AKT3):c.481A>C (p.Lys161Gln)	AKT3 (K161Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1313032	NM_005465.7(AKT3):c.444T>G (p.Phe148Leu)	AKT3 (F148L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260663	NM_005465.7(AKT3):c.430-141A>G	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182996	NM_005465.7(AKT3):c.430-146A>G	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234015	NM_005465.7(AKT3):c.430-239C>G	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507447	NM_005465.7(AKT3):c.429+8A>G	AKT3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 430499	NM_005465.7(AKT3):c.384A>G (p.Ile128Met)	AKT3 (I128M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 507448	NM_005465.7(AKT3):c.285-13C>T	AKT3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670454	NM_005465.7(AKT3):c.285-149G>A	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181909	NM_005465.7(AKT3):c.284+253T>G	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677638	NM_005465.7(AKT3):c.284+211T>C	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387553	NM_005465.7(AKT3):c.273T>C (p.Thr91=)	AKT3	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GLikely benign
Select item 1803517	NM_005465.7(AKT3):c.237G>T (p.Trp79Cys)	AKT3 (W79C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1292870	NM_005465.7(AKT3):c.173-121A>T	AKT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193931	NM_005465.7(AKT3):c.173-121A>G	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679584	NM_005465.7(AKT3):c.173-177G>A	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210775	NM_005465.7(AKT3):c.173-207_173-203dup	AKT3	Duplication (intron variant)	not provided	GLikely benign
Select item 1203858	NM_005465.7(AKT3):c.172+132T>G	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214331	NM_005465.7(AKT3):c.172+70T>C	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 144805	GRCh38/hg38 1q44(chr1:243786629-243870496)x1	AKT3, AKT3-IT1	Copy number loss	See cases	GPathogenic
Select item 1191724	NM_005465.7(AKT3):c.46+212_46+216del	AKT3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 679387	NM_005465.7(AKT3):c.46+139GT[2]	AKT3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1281311	NM_005465.7(AKT3):c.16A>G (p.Ile6Val)	AKT3 (I6V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 389504	NM_005465.7(AKT3):c.6C>T (p.Ser2=)	AKT3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 388299	NM_005465.7(AKT3):c.-43A>G	AKT3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1207461	NM_005465.7(AKT3):c.-112-173G>T	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220389	NM_005465.7(AKT3):c.-112-325C>T	AKT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258477	NM_005465.7(AKT3):c.-112-388dup	AKT3	Duplication (intron variant)	not provided	GBenign
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253578	GRCh37/hg19 1q43-44(chr1:242357208-246378823)x1	ADSS2, AKT3 +12 more	Copy number loss	See cases	GPathogenic
Select item 253547	GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1	OR2L2, OR2L8 +66 more	Copy number loss	See cases	GPathogenic
Select item 3360344	NM_005465.7(AKT3):c.487A>G (p.Ile163Val)	AKT3 (I163V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 82