AKT1S1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2252473	NM_001098633.4(AKT1S1):c.758A>G (p.Lys253Arg)	AKT1S1 (K253R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108258	NM_001098633.4(AKT1S1):c.755T>A (p.Leu252Gln)	AKT1S1 (L272Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607416	NM_001098633.4(AKT1S1):c.735C>G (p.Asn245Lys)	AKT1S1 (N265K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283134	NM_001098633.4(AKT1S1):c.724C>T (p.Pro242Ser)	AKT1S1 (P262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108250	NM_001098633.4(AKT1S1):c.712G>C (p.Asp238His)	AKT1S1 (D238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511790	NM_001098633.4(AKT1S1):c.702G>T (p.Gln234His)	AKT1S1 (Q234H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248990	NM_001098633.4(AKT1S1):c.590G>C (p.Arg197Thr)	AKT1S1 (R217T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557372	NM_001098633.4(AKT1S1):c.509C>A (p.Pro170His)	AKT1S1 (P170H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283117	NM_001098633.4(AKT1S1):c.425C>G (p.Pro142Arg)	AKT1S1 (P142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108230	NM_001098633.4(AKT1S1):c.403G>A (p.Ala135Thr)	AKT1S1 (A135T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391995	NM_001098633.4(AKT1S1):c.385T>A (p.Phe129Ile)	AKT1S1 (F129I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283126	NM_001098633.4(AKT1S1):c.365T>C (p.Ile122Thr)	AKT1S1 (I142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716506	NM_001098633.4(AKT1S1):c.348C>T (p.Ser116=)	AKT1S1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2278802	NM_001098633.4(AKT1S1):c.344C>A (p.Thr115Asn)	AKT1S1 (T135N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283106	NM_001098633.4(AKT1S1):c.341A>G (p.Glu114Gly)	AKT1S1 (E114G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108219	NM_001098633.4(AKT1S1):c.319G>A (p.Glu107Lys)	AKT1S1 (E127K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108215	NM_001098633.4(AKT1S1):c.236C>T (p.Ala79Val)	AKT1S1 (A99V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227925	NM_001098633.4(AKT1S1):c.226C>T (p.Arg76Trp)	AKT1S1 (R76W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340255	NM_001098633.4(AKT1S1):c.190G>A (p.Asp64Asn)	AKT1S1 (D64N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713406	NM_001098633.4(AKT1S1):c.165G>A (p.Ala55=)	AKT1S1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596692	NM_001098633.4(AKT1S1):c.164C>T (p.Ala55Val)	AKT1S1 (A75V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399801	NM_001098633.4(AKT1S1):c.146A>G (p.His49Arg)	AKT1S1 (H49R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650290	NM_001098633.4(AKT1S1):c.99G>A (p.Ala33=)	AKT1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3108272	NM_001098633.4(AKT1S1):c.95C>T (p.Thr32Ile)	AKT1S1 (T52I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332129	NM_001098633.4(AKT1S1):c.83T>C (p.Leu28Pro)	AKT1S1 (L28P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382866	NM_001098633.4(AKT1S1):c.67C>T (p.Arg23Trp)	AKT1S1 (R23W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569282	NM_001098633.4(AKT1S1):c.55C>T (p.Arg19Cys)	AKT1S1 (R39C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650291	NM_001098633.4(AKT1S1):c.48C>T (p.Ala16=)	AKT1S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2332128	NM_001098633.4(AKT1S1):c.46G>C (p.Ala16Pro)	AKT1S1 (A36P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108221	NM_001098633.4(AKT1S1):c.37G>A (p.Val13Met)	AKT1S1 (V13M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217127	NM_001098633.4(AKT1S1):c.19G>A (p.Glu7Lys)	AKT1S1 (E27K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382786	NM_001098633.4(AKT1S1):c.8C>T (p.Ser3Leu)	AKT1S1 (S23L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174512	NM_024682.3(TBC1D17):c.28T>G (p.Phe10Val)	AKT1S1, TBC1D17 (F10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324643	NM_024682.3(TBC1D17):c.74A>T (p.Gln25Leu)	AKT1S1, TBC1D17 (Q25L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526671	GRCh37/hg19 19q13.33(chr19:50355646-50552140)	AKT1S1, ATF5 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 47