"PreventionGenetics, part of Exact Sciences"[submitter] AND "AKT1"[gen - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1772362	NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 699745	NM_001382430.1(AKT1):c.1416C>T (p.Phe472=)	AKT1	Single nucleotide variant (synonymous variant)	AKT1-related disorder +2 more	GLikely benign
Select item 696737	NM_001382430.1(AKT1):c.1364-10A>G	AKT1	Single nucleotide variant (intron variant)	AKT1-related disorder +1 more	GLikely benign
Select item 847554	NM_001382430.1(AKT1):c.1260+5G>A	AKT1	Single nucleotide variant (intron variant)	AKT1-related disorder +1 more	GUncertain significance
Select item 221141	NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +4 more	GBenign/Likely benign
Select item 473849	NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)	AKT1	Single nucleotide variant (synonymous variant)	AKT1-related disorder +3 more	GLikely benign
Select item 240103	NM_001382430.1(AKT1):c.1179C>T (p.Gly393=)	AKT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 702510	NM_001382430.1(AKT1):c.1172+9C>T	AKT1	Single nucleotide variant (intron variant)	AKT1-related disorder +1 more	GLikely benign
Select item 220941	NM_001382430.1(AKT1):c.958-7C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6 +1 more	GBenign
Select item 1380604	NM_001382430.1(AKT1):c.818G>A (p.Arg273Gln)	AKT1 (R273Q)	Single nucleotide variant (missense variant)	AKT1-related disorder +1 more	GUncertain significance
Select item 416471	NM_001382430.1(AKT1):c.783G>A (p.Leu261=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 699889	NM_001382430.1(AKT1):c.567+9G>A	AKT1	Single nucleotide variant (intron variant)	AKT1-related disorder +1 more	GLikely benign
Select item 573803	NM_001382430.1(AKT1):c.436-3T>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 410907	NM_001382430.1(AKT1):c.431G>A (p.Arg144His)	AKT1 (R144H)	Single nucleotide variant (missense variant)	AKT1-related disorder +2 more	GUncertain significance
Select item 240111	NM_001382430.1(AKT1):c.315T>C (p.Thr105=)	AKT1	Single nucleotide variant (synonymous variant)	AKT1-related disorder +2 more	GLikely benign
Select item 133455	NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)	AKT1 (D46E)	Single nucleotide variant (missense variant)	AKT1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1579929	NM_001382430.1(AKT1):c.47-4G>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6 +1 more	GLikely benign