ClinVar for Gene (Select 2194) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346653	NM_004104.5(FASN):c.4131G>A (p.Trp1377Ter)	FASN (W1377*)	Single nucleotide variant (nonsense)	FASN-related disorder	GUncertain significance
Select item 3346518	NM_004104.5(FASN):c.5450G>A (p.Gly1817Asp)	FASN (G1817D)	Single nucleotide variant (missense variant)	FASN-related disorder	GUncertain significance
Select item 3277742	NM_004104.5(FASN):c.1243G>T (p.Ala415Ser)	FASN (A415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277741	NM_004104.5(FASN):c.1438C>A (p.Pro480Thr)	FASN (P480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277740	NM_004104.5(FASN):c.3803T>C (p.Leu1268Pro)	FASN (L1268P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277738	NM_004104.5(FASN):c.4606C>T (p.Leu1536Phe)	FASN (L1536F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277737	NM_004104.5(FASN):c.7379C>T (p.Ala2460Val)	FASN (A2460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277736	NM_004104.5(FASN):c.5729A>G (p.Gln1910Arg)	FASN (Q1910R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 3092951	NM_004104.5(FASN):c.7513C>T (p.Arg2505Cys)	FASN (R2505C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092950	NM_004104.5(FASN):c.6763A>G (p.Thr2255Ala)	FASN (T2255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092949	NM_004104.5(FASN):c.6365A>G (p.Asp2122Gly)	FASN (D2122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092947	NM_004104.5(FASN):c.5486C>T (p.Thr1829Met)	FASN (T1829M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092945	NM_004104.5(FASN):c.5234T>G (p.Leu1745Trp)	FASN (L1745W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092944	NM_004104.5(FASN):c.4247C>T (p.Pro1416Leu)	FASN (P1416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092942	NM_004104.5(FASN):c.4217C>T (p.Pro1406Leu)	FASN (P1406L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092941	NM_004104.5(FASN):c.4057C>G (p.Leu1353Val)	FASN (L1353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092940	NM_004104.5(FASN):c.3687C>G (p.Asp1229Glu)	FASN (D1229E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092939	NM_004104.5(FASN):c.3487G>C (p.Gly1163Arg)	FASN (G1163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092938	NM_004104.5(FASN):c.3339C>G (p.Ile1113Met)	FASN (I1113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092937	NM_004104.5(FASN):c.2933A>G (p.Asn978Ser)	FASN (N978S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092936	NM_004104.5(FASN):c.2927C>T (p.Thr976Ile)	FASN (T976I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092935	NM_004104.5(FASN):c.266C>T (p.Ala89Val)	FASN (A89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092934	NM_004104.5(FASN):c.2603C>T (p.Ser868Phe)	FASN (S868F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092933	NM_004104.5(FASN):c.2419G>A (p.Gly807Ser)	FASN (G807S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092931	NM_004104.5(FASN):c.1961C>T (p.Pro654Leu)	FASN (P654L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092930	NM_004104.5(FASN):c.1835A>T (p.Glu612Val)	FASN (E612V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092929	NM_004104.5(FASN):c.1060G>T (p.Ala354Ser)	FASN (A354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060770	NM_004104.5(FASN):c.3429G>C (p.Gly1143=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder	GLikely benign
Select item 3051306	NM_004104.5(FASN):c.5219-2A>G	FASN	Single nucleotide variant (splice acceptor variant)	FASN-related disorder	GUncertain significance
Select item 3046821	NM_004104.5(FASN):c.2733T>C (p.Pro911=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder	GLikely benign
Select item 3046549	NM_004104.5(FASN):c.705G>A (p.Lys235=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder	GLikely benign
Select item 3036218	NM_004104.5(FASN):c.6196G>A (p.Val2066Met)	FASN (V2066M)	Single nucleotide variant (missense variant)	FASN-related disorder	GUncertain significance
Select item 3031397	NM_004104.5(FASN):c.2594-9C>G	FASN	Single nucleotide variant (intron variant)	FASN-related disorder	GLikely benign
Select item 3031127	NM_004104.5(FASN):c.2304+6C>A	FASN	Single nucleotide variant (intron variant)	FASN-related disorder	GLikely benign
Select item 3023896	NM_004104.5(FASN):c.2913C>G (p.His971Gln)	FASN (H971Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3023599	NM_004104.5(FASN):c.5496T>C (p.His1832=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3019367	NM_004104.5(FASN):c.1698G>A (p.Leu566=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3018881	NM_004104.5(FASN):c.4083C>T (p.Thr1361=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3017530	NM_004104.5(FASN):c.4605C>T (p.Thr1535=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3017342	NM_004104.5(FASN):c.4892A>C (p.Asp1631Ala)	FASN (D1631A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3017296	NM_004104.5(FASN):c.4815C>T (p.Gly1605=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3017169	NM_004104.5(FASN):c.7408G>A (p.Gly2470Arg)	FASN (G2470R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3015928	NM_004104.5(FASN):c.4738A>G (p.Thr1580Ala)	FASN (T1580A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3015388	NM_004104.5(FASN):c.4919+16G>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 3013493	NM_004104.5(FASN):c.550A>C (p.Ile184Leu)	FASN (I184L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3013089	NM_004104.5(FASN):c.6265G>A (p.Ala2089Thr)	FASN (A2089T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3012109	NM_004104.5(FASN):c.4662C>T (p.Ala1554=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3011236	NM_004104.5(FASN):c.2304+18G>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 3010291	NM_004104.5(FASN):c.7014C>T (p.Asp2338=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3009802	NM_004104.5(FASN):c.6352T>C (p.Tyr2118His)	FASN (Y2118H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3007528	NM_004104.5(FASN):c.3517C>T (p.Pro1173Ser)	FASN (P1173S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3005232	NM_004104.5(FASN):c.3364C>T (p.His1122Tyr)	FASN (H1122Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3004005	NM_004104.5(FASN):c.4288-14C>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 3003496	NM_004104.5(FASN):c.2463C>G (p.Phe821Leu)	FASN (F821L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3002953	NM_004104.5(FASN):c.3733-20C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2999582	NM_004104.5(FASN):c.4405C>A (p.Leu1469Ile)	FASN (L1469I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2999116	NM_004104.5(FASN):c.3397G>A (p.Ala1133Thr)	FASN (A1133T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2998823	NM_004104.5(FASN):c.4769-3C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 2993871	NM_004104.5(FASN):c.2933_2938dup (p.Pro979_Thr980insAsnPro)	FASN	Duplication (inframe_insertion)	Epileptic encephalopathy	GUncertain significance
Select item 2992495	NM_004104.5(FASN):c.2626G>A (p.Val876Met)	FASN (V876M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2989210	NM_004104.5(FASN):c.632C>T (p.Thr211Ile)	FASN (T211I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2986845	NM_004104.5(FASN):c.1518G>A (p.Met506Ile)	FASN (M506I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2986843	NM_004104.5(FASN):c.3963C>T (p.Ala1321=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2984520	NM_004104.5(FASN):c.2263C>T (p.His755Tyr)	FASN (H755Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2983153	NM_004104.5(FASN):c.7283G>A (p.Arg2428His)	FASN, LOC129390948 (R2428H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2982357	NM_004104.5(FASN):c.7033C>G (p.Leu2345Val)	FASN (L2345V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2982175	NM_004104.5(FASN):c.5566-11C>G	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2979275	NM_004104.5(FASN):c.1680+15G>C	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2977122	NM_004104.5(FASN):c.1029+20G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2974117	NM_004104.5(FASN):c.4919+8T>C	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2971798	NM_004104.5(FASN):c.4737C>T (p.Ala1579=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2969615	NM_004104.5(FASN):c.4834C>G (p.Arg1612Gly)	FASN (R1612G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2969241	NM_004104.5(FASN):c.436TTC[2] (p.Phe148del)	FASN (F148del)	Microsatellite (inframe_deletion)	Epileptic encephalopathy	GUncertain significance
Select item 2966819	NM_004104.5(FASN):c.6347C>T (p.Ala2116Val)	FASN (A2116V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2963434	NM_004104.5(FASN):c.7444C>T (p.Arg2482Cys)	FASN (R2482C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2960629	NM_004104.5(FASN):c.465C>T (p.Ile155=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2957168	NM_004104.5(FASN):c.5920-6C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2956675	NM_004104.5(FASN):c.7245G>A (p.Glu2415=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2955524	NM_004104.5(FASN):c.3892G>A (p.Asp1298Asn)	FASN (D1298N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2919290	NM_004104.5(FASN):c.6787C>T (p.Arg2263Trp)	FASN (R2263W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2919285	NM_004104.5(FASN):c.2377C>T (p.Leu793=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2918692	NM_004104.5(FASN):c.4288-4G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2918438	NM_004104.5(FASN):c.1849C>A (p.Pro617Thr)	FASN (P617T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2918310	NM_004104.5(FASN):c.2331G>A (p.Pro777=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2918060	NM_004104.5(FASN):c.3111C>T (p.Ser1037=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2917861	NM_004104.5(FASN):c.5099-18G>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2917857	NM_004104.5(FASN):c.4878C>T (p.Val1626=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2917189	NM_004104.5(FASN):c.5185G>A (p.Glu1729Lys)	FASN (E1729K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2916790	NM_004104.5(FASN):c.336C>T (p.Ser112=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2915810	NM_004104.5(FASN):c.2594-7C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2915774	NM_004104.5(FASN):c.3962C>T (p.Ala1321Val)	FASN (A1321V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2914805	NM_004104.5(FASN):c.4277A>G (p.Glu1426Gly)	FASN (E1426G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2914789	NM_004104.5(FASN):c.5742G>A (p.Leu1914=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2914666	NM_004104.5(FASN):c.1614G>T (p.Leu538=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2913142	NM_004104.5(FASN):c.126G>A (p.Ala42=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GUncertain significance
Select item 2912160	NM_004104.5(FASN):c.2393C>T (p.Ala798Val)	FASN (A798V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2911887	NM_004104.5(FASN):c.4580C>A (p.Pro1527Gln)	FASN (P1527Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2911510	NM_004104.5(FASN):c.2108G>A (p.Arg703Gln)	FASN (R703Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance

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