"Ambry Genetics"[submitter] AND "AKT1S1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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

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Items: 30