ClinVar for Gene (Select 207) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336139	NC_000014.8:g.(?_105235685)_(105259939_?)dup	AKT1	Duplication	not specified	GUncertain significance
Select item 3283085	NM_001382430.1(AKT1):c.972T>C (p.Asn324=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3283077	NM_001382430.1(AKT1):c.1119T>G (p.Gly373=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3283067	NM_001382430.1(AKT1):c.725A>G (p.Glu242Gly)	AKT1 (E242G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283046	NM_001382430.1(AKT1):c.261C>T (p.Thr87=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3283036	NM_001382430.1(AKT1):c.928T>G (p.Cys310Gly)	AKT1 (C310G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283025	NM_001382430.1(AKT1):c.630C>T (p.Leu210=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3283014	NM_001382430.1(AKT1):c.883C>T (p.Leu295=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3283004	NM_001382430.1(AKT1):c.96T>C (p.Asp32=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3282995	NM_001382430.1(AKT1):c.338A>G (p.Gln113Arg)	AKT1 (Q113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282987	NM_001382430.1(AKT1):c.439A>G (p.Met147Val)	AKT1 (M147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282981	NM_001382430.1(AKT1):c.1152C>T (p.Leu384=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3282970	NM_001382430.1(AKT1):c.1130A>C (p.Lys377Thr)	AKT1 (K377T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282959	NM_001382430.1(AKT1):c.786C>T (p.Asp262=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3282939	NM_001382430.1(AKT1):c.601G>A (p.Val201Ile)	AKT1 (V201I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282921	NM_001382430.1(AKT1):c.826A>G (p.Lys276Glu)	AKT1 (K276E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252342	NM_001382430.1(AKT1):c.361del (p.Arg121fs)	AKT1 (R121fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3224642	NM_001382430.1(AKT1):c.981C>T (p.Gly327=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224641	NM_001382430.1(AKT1):c.898A>C (p.Ile300Leu)	AKT1 (I300L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224640	NM_001382430.1(AKT1):c.897G>A (p.Gly299=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224639	NM_001382430.1(AKT1):c.882G>T (p.Gly294=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224638	NM_001382430.1(AKT1):c.807C>A (p.Asn269Lys)	AKT1 (N269K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224636	NM_001382430.1(AKT1):c.698G>C (p.Gly233Ala)	AKT1 (G233A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224635	NM_001382430.1(AKT1):c.654G>A (p.Gln218=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224634	NM_001382430.1(AKT1):c.650T>G (p.Phe217Cys)	AKT1 (F217C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224633	NM_001382430.1(AKT1):c.636C>A (p.Ala212=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224632	NM_001382430.1(AKT1):c.634G>T (p.Ala212Ser)	AKT1 (A212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224631	NM_001382430.1(AKT1):c.627C>T (p.Phe209=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224630	NM_001382430.1(AKT1):c.565A>C (p.Lys189Gln)	AKT1 (K189Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224629	NM_001382430.1(AKT1):c.564C>T (p.Ala188=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224628	NM_001382430.1(AKT1):c.516A>G (p.Thr172=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224627	NM_001382430.1(AKT1):c.507G>C (p.Glu169Asp)	AKT1 (E169D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224626	NM_001382430.1(AKT1):c.498G>C (p.Leu166=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224625	NM_001382430.1(AKT1):c.482T>C (p.Phe161Ser)	AKT1 (F161S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224624	NM_001382430.1(AKT1):c.474G>A (p.Lys158=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224623	NM_001382430.1(AKT1):c.459G>A (p.Leu153=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224622	NM_001382430.1(AKT1):c.365C>G (p.Ser122Trp)	AKT1 (S122W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224620	NM_001382430.1(AKT1):c.1404C>T (p.His468=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224619	NM_001382430.1(AKT1):c.1388G>A (p.Ser463Asn)	AKT1 (S463N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224618	NM_001382430.1(AKT1):c.1332C>T (p.Ala444=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224617	NM_001382430.1(AKT1):c.128A>G (p.Gln43Arg)	AKT1 (Q43R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224616	NM_001382430.1(AKT1):c.1271C>T (p.Pro424Leu)	AKT1 (P424L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224615	NM_001382430.1(AKT1):c.1234G>T (p.Val412Leu)	AKT1 (V412L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224613	NM_001382430.1(AKT1):c.1207A>G (p.Met403Val)	AKT1 (M403V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224611	NM_001382430.1(AKT1):c.1188C>A (p.Ser396=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224610	NM_001382430.1(AKT1):c.1180G>A (p.Gly394Arg)	AKT1 (G394R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224609	NM_001382430.1(AKT1):c.1128C>G (p.Ala376=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3224608	NM_001382430.1(AKT1):c.1120C>T (p.Pro374Ser)	AKT1 (P374S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224607	NM_001382430.1(AKT1):c.1094A>T (p.Glu365Val)	AKT1 (E365V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224606	NM_001382430.1(AKT1):c.1060C>G (p.His354Asp)	AKT1 (H354D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224605	NM_001382430.1(AKT1):c.1024A>G (p.Met342Val)	AKT1 (M342V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3224604	NM_001382430.1(AKT1):c.1014C>T (p.Val338=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3018963	NM_001382430.1(AKT1):c.1261-8C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2972109	NM_001382430.1(AKT1):c.829-4C>G	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2914517	NM_001382430.1(AKT1):c.435+10G>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2911170	NM_001382430.1(AKT1):c.634-14C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2910401	NM_001382430.1(AKT1):c.600C>T (p.Arg200=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GUncertain significance
Select item 2905063	NM_001382430.1(AKT1):c.1123G>A (p.Glu375Lys)	AKT1 (E375K)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2902017	NM_001382430.1(AKT1):c.971A>G (p.Asn324Ser)	AKT1 (N324S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2901918	NM_001382430.1(AKT1):c.633+8_633+9dup	AKT1	Duplication (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2896445	NM_001382430.1(AKT1):c.1260+19T>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2895265	NM_001382430.1(AKT1):c.633+16G>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2885452	NM_001382430.1(AKT1):c.957+3G>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GUncertain significance
Select item 2869045	NM_001382430.1(AKT1):c.1190A>C (p.Glu397Ala)	AKT1 (E397A)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2866551	NM_001382430.1(AKT1):c.288-20C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2852392	NM_001382430.1(AKT1):c.285G>A (p.Glu95=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 2837940	NM_001382430.1(AKT1):c.161A>T (p.Asn54Ile)	AKT1 (N54I)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2827097	NM_001382430.1(AKT1):c.288-13T>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2814661	NM_001382430.1(AKT1):c.1318G>A (p.Glu440Lys)	AKT1 (E440K)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2811135	NM_001382430.1(AKT1):c.1399C>T (p.Pro467Ser)	AKT1 (P467S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2783483	NM_001382430.1(AKT1):c.957+13C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2782967	NM_001382430.1(AKT1):c.48G>C (p.Gly16=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 2782395	NM_001382430.1(AKT1):c.176-7C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2771879	NM_001382430.1(AKT1):c.433G>C (p.Val145Leu)	AKT1 (V145L)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2771412	NM_001382430.1(AKT1):c.633+12C>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2771409	NM_001382430.1(AKT1):c.633+19G>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2771149	NM_001382430.1(AKT1):c.1345A>T (p.Ile449Phe)	AKT1 (I449F)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2764654	NM_001382430.1(AKT1):c.1173-18C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2763799	NM_001382430.1(AKT1):c.372_377del (p.Pro125_Ser126del)	AKT1	Deletion (inframe_deletion)	Cowden syndrome 6	GUncertain significance
Select item 2762916	NM_001382430.1(AKT1):c.46+20G>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2756169	NM_001382430.1(AKT1):c.55A>G (p.Ile19Val)	AKT1 (I19V)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2753237	NM_001382430.1(AKT1):c.287+14G>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2749487	NM_001382430.1(AKT1):c.1020C>G (p.Tyr340Ter)	AKT1 (Y340*)	Single nucleotide variant (nonsense)	Cowden syndrome 6	GUncertain significance
Select item 2744231	NM_001382430.1(AKT1):c.765T>A (p.Ala255=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 2741386	NM_001382430.1(AKT1):c.633+12C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2736828	NM_001382430.1(AKT1):c.1305C>T (p.Thr435=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 2733003	NM_001382430.1(AKT1):c.287+12G>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2732356	NM_001382430.1(AKT1):c.939T>C (p.Pro313=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 2731240	NM_001382430.1(AKT1):c.703-11G>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2727990	NM_001382430.1(AKT1):c.702+5G>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GUncertain significance
Select item 2725354	NM_001382430.1(AKT1):c.1173-8G>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2725335	NM_001382430.1(AKT1):c.1357G>C (p.Asp453His)	AKT1 (D453H)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2725156	NM_001382430.1(AKT1):c.286C>T (p.Arg96Trp)	AKT1 (R96W)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2721324	NM_001382430.1(AKT1):c.568-20C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2709219	NM_001382430.1(AKT1):c.281A>C (p.Glu94Ala)	AKT1 (E94A)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2697409	NM_001382430.1(AKT1):c.699C>T (p.Gly233=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GUncertain significance
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic

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