ClinVar for MedGen (Select 767433) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2425306	NC_000014.8:g.(?_105258915)_(105268803_?)dup	AKT1, ZBTB42	Duplication	Cowden syndrome 6	GUncertain significance
Select item 2425305	NC_000014.8:g.(?_105236678)_(105258980_?)dup	AKT1	Duplication	Cowden syndrome 6	GUncertain significance
Select item 2416171	NM_001382430.1(AKT1):c.957+6C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GUncertain significance
Select item 2414793	NM_001382430.1(AKT1):c.568-16C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2200088	NM_001382430.1(AKT1):c.141A>T (p.Gln47His)	AKT1 (Q47H)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2196588	NM_001382430.1(AKT1):c.46+9C>G	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2196072	NM_001382430.1(AKT1):c.567+13C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2194883	NM_001382430.1(AKT1):c.92A>G (p.Asn31Ser)	AKT1 (N31S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2189706	NM_001382430.1(AKT1):c.176-19A>G	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2188658	NM_001382430.1(AKT1):c.1323G>A (p.Glu441=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 2178552	NM_001382430.1(AKT1):c.1217G>A (p.Arg406His)	AKT1 (R406H)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2178099	NM_001382430.1(AKT1):c.1364-9C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2156256	NM_001382430.1(AKT1):c.288-28_288-9dup	AKT1	Duplication (intron variant)	Cowden syndrome 6	GUncertain significance
Select item 2156218	NM_001382430.1(AKT1):c.634-15T>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2151942	NM_001382430.1(AKT1):c.1039C>T (p.Leu347=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 2145212	NM_001382430.1(AKT1):c.360C>A (p.Phe120Leu)	AKT1 (F120L)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2144548	NM_001382430.1(AKT1):c.433G>A (p.Val145Met)	AKT1 (V145M)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2142085	NM_001382430.1(AKT1):c.435+18T>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2140769	NM_001382430.1(AKT1):c.148G>A (p.Ala50Thr)	AKT1 (A50T)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2128745	NM_001382430.1(AKT1):c.176-16C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2126319	NM_001382430.1(AKT1):c.458T>C (p.Leu153Pro)	AKT1 (L153P)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2123387	NM_001382430.1(AKT1):c.1397G>A (p.Arg466Lys)	AKT1 (R466K)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2122182	NM_001382430.1(AKT1):c.958-8C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2108446	NM_001382430.1(AKT1):c.1260+7C>G	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2100636	NM_001382430.1(AKT1):c.288-1G>C	AKT1	Single nucleotide variant (splice acceptor variant)	Cowden syndrome 6	GUncertain significance
Select item 2094919	NM_001382430.1(AKT1):c.176-3C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GUncertain significance
Select item 2087446	NM_001382430.1(AKT1):c.1364-11T>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2082145	NM_001382430.1(AKT1):c.1173-8G>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2081771	NM_001382430.1(AKT1):c.340GAG[6] (p.Glu117_Met118insGluGlu)	AKT1	Microsatellite (inframe_insertion)	Cowden syndrome 6	GUncertain significance
Select item 2078881	NM_001382430.1(AKT1):c.27G>A (p.Glu9=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GLikely benign
Select item 2072044	NM_001382430.1(AKT1):c.125C>T (p.Pro42Leu)	AKT1 (P42L)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2067718	NM_001382430.1(AKT1):c.957+14C>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2064329	NM_001382430.1(AKT1):c.416C>T (p.Ala139Val)	AKT1 (A139V)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2064010	NM_001382430.1(AKT1):c.622C>G (p.Pro208Ala)	AKT1 (P208A)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2060517	NM_001382430.1(AKT1):c.1364-10A>C	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2056720	NM_001382430.1(AKT1):c.230G>T (p.Cys77Phe)	AKT1 (C77F)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2049535	NM_001382430.1(AKT1):c.1117G>A (p.Gly373Ser)	AKT1 (G373S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2043849	NM_001382430.1(AKT1):c.568-16C>G	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2042935	NM_001382430.1(AKT1):c.17T>C (p.Ile6Thr)	AKT1 (I6T)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2041435	NM_001382430.1(AKT1):c.99C>T (p.Gly33=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 2039863	NM_001382430.1(AKT1):c.1373T>A (p.Met458Lys)	AKT1 (M458K)	Single nucleotide variant (missense variant)	Cowden syndrome 6 +1 more	GUncertain significance
Select item 2034622	NM_001382430.1(AKT1):c.135G>A (p.Val45=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2029979	NM_001382430.1(AKT1):c.567+20G>T	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 2005660	NM_001382430.1(AKT1):c.662A>G (p.Asp221Gly)	AKT1 (D221G)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2003501	NM_001382430.1(AKT1):c.493A>T (p.Ile165Phe)	AKT1 (I165F)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 2002599	NM_001382430.1(AKT1):c.760G>A (p.Gly254Ser)	AKT1 (G254S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 1978398	NM_001382430.1(AKT1):c.314C>G (p.Thr105Ser)	AKT1 (T105S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 1976546	NM_001382430.1(AKT1):c.702+5G>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GUncertain significance
Select item 1975172	NM_001382430.1(AKT1):c.1395C>G (p.Arg465=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1966385	NM_001382430.1(AKT1):c.576G>A (p.Val192=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6	GLikely benign
Select item 1959341	NM_001382430.1(AKT1):c.828+13G>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 1937914	NM_001382430.1(AKT1):c.828+9G>A	AKT1	Single nucleotide variant (intron variant)	Cowden syndrome 6	GLikely benign
Select item 1917904	NM_001382430.1(AKT1):c.765T>C (p.Ala255=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +1 more	GLikely benign
Select item 1913630	NM_001382430.1(AKT1):c.141A>G (p.Gln47=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +2 more	GLikely benign
Select item 1912151	NM_001382430.1(AKT1):c.739G>A (p.Glu247Lys)	AKT1 (E247K)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 1907372	NM_001382430.1(AKT1):c.383A>T (p.Asn128Ile)	AKT1 (N128I)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance

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