ClinVar for Gene (Select 207) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +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	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	ADSS1, AHNAK2 +32 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2662728	NM_001382430.1(AKT1):c.596A>C (p.Asn199Thr)	AKT1 (N199T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644622	NM_001382430.1(AKT1):c.603C>T (p.Val201=)	AKT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644621	NM_001382430.1(AKT1):c.1260+66C>A	AKT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644620	NM_001382430.1(AKT1):c.*6C>T	AKT1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2624970	NM_001382430.1(AKT1):c.1183G>A (p.Gly395Ser)	AKT1 (G395S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624969	NM_001382430.1(AKT1):c.648T>A (p.Ser216=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2614824	NM_001382430.1(AKT1):c.339G>A (p.Gln113=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2614814	NM_001382430.1(AKT1):c.634G>C (p.Ala212Pro)	AKT1 (A212P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614794	NM_001382430.1(AKT1):c.334A>C (p.Lys112Gln)	AKT1 (K112Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587645	NM_001382430.1(AKT1):c.720C>T (p.Ser240=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587644	NM_001382430.1(AKT1):c.1054C>A (p.Gln352Lys)	AKT1 (Q352K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587643	NM_001382430.1(AKT1):c.375C>A (p.Pro125=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587642	NM_001382430.1(AKT1):c.15T>C (p.Ala5=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587641	NM_001382430.1(AKT1):c.885G>A (p.Leu295=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587640	NM_001382430.1(AKT1):c.1164C>G (p.Pro388=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587639	NM_001382430.1(AKT1):c.1422C>T (p.Tyr474=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587638	NM_001382430.1(AKT1):c.1396A>G (p.Arg466Gly)	AKT1 (R466G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587637	NM_001382430.1(AKT1):c.119A>T (p.Glu40Val)	AKT1 (E40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587636	NM_001382430.1(AKT1):c.638T>C (p.Leu213Pro)	AKT1 (L213P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587635	NM_001382430.1(AKT1):c.463C>T (p.Leu155=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587634	NM_001382430.1(AKT1):c.720C>G (p.Ser240=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587633	NM_001382430.1(AKT1):c.1353A>G (p.Pro451=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587632	NM_001382430.1(AKT1):c.527A>G (p.Tyr176Cys)	AKT1 (Y176C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581879	NM_001382430.1(AKT1):c.950C>T (p.Ala317Val)	AKT1 (A317V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2567947	NM_001382430.1(AKT1):c.1379G>T (p.Cys460Phe)	AKT1 (C460F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567946	NM_001382430.1(AKT1):c.531C>T (p.Ala177=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2567945	NM_001382430.1(AKT1):c.423C>G (p.Pro141=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2567943	NM_001382430.1(AKT1):c.543C>G (p.Leu181=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2567942	NM_001382430.1(AKT1):c.593A>G (p.Glu198Gly)	AKT1 (E198G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567941	NM_001382430.1(AKT1):c.717G>A (p.Leu239=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2567940	NM_001382430.1(AKT1):c.657C>A (p.Thr219=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2567939	NM_001382430.1(AKT1):c.366G>C (p.Ser122=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2561396	NM_001382430.1(AKT1):c.156C>T (p.Leu52=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2561395	NM_001382430.1(AKT1):c.345G>A (p.Glu115=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2504741	NM_001382430.1(AKT1):c.1420T>C (p.Tyr474His)	AKT1 (Y474H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496652	NM_001382430.1(AKT1):c.618G>A (p.Arg206=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2496651	NM_001382430.1(AKT1):c.954C>T (p.Pro318=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2496650	NM_001382430.1(AKT1):c.808G>A (p.Val270Met)	AKT1 (V270M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496649	NM_001382430.1(AKT1):c.621C>T (p.His207=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2496648	NM_001382430.1(AKT1):c.1350A>C (p.Thr450=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2477922	NM_001382430.1(AKT1):c.238T>G (p.Trp80Gly)	AKT1 (W80G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453719	NM_001382430.1(AKT1):c.1086C>G (p.Leu362=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2453718	NM_001382430.1(AKT1):c.554T>G (p.Val185Gly)	AKT1 (V185G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453717	NM_001382430.1(AKT1):c.860A>G (p.His287Arg)	AKT1 (H287R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453716	NM_001382430.1(AKT1):c.1388G>T (p.Ser463Ile)	AKT1 (S463I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453715	NM_001382430.1(AKT1):c.1254G>A (p.Glu418=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2453714	NM_001382430.1(AKT1):c.1252G>C (p.Glu418Gln)	AKT1 (E418Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453713	NM_001382430.1(AKT1):c.150T>C (p.Ala50=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2453712	NM_001382430.1(AKT1):c.1002G>A (p.Gly334=)	AKT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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