ClinVar for MedGen (Select 452596) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245128	NC_000009.11:g.(?_101470679)_(101611374_?)del	ANKS6, GABBR2 +1 more	Deletion	Epileptic encephalopathy	GLikely benign
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
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 3019304	NM_005458.8(GABBR2):c.1339G>A (p.Asp447Asn)	GABBR2 (D447N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
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 3014211	NM_005458.8(GABBR2):c.306G>C (p.Arg102=)	GABBR2	Single nucleotide variant (synonymous 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 3013237	NM_005458.8(GABBR2):c.2257G>T (p.Ala753Ser)	GABBR2 (A753S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
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 3011806	NM_005458.8(GABBR2):c.631-16T>C	GABBR2, LOC126860700	Single nucleotide variant (intron 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 3011054	NM_005458.8(GABBR2):c.1155C>T (p.Ile385=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3010595	NM_005458.8(GABBR2):c.131G>C (p.Arg44Pro)	GABBR2 (R44P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
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 3008340	NM_001036.6(RYR3):c.8756-19A>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GBenign
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 3005236	NM_005458.8(GABBR2):c.1893+16C>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
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 2994185	NM_005458.8(GABBR2):c.1236+14C>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
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 2992424	NM_005458.8(GABBR2):c.2544T>C (p.Asp848=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2990577	NM_005458.8(GABBR2):c.2010C>T (p.Phe670=)	GABBR2	Single nucleotide variant (synonymous 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 2983330	NM_005458.8(GABBR2):c.89_91dup (p.Pro30_Leu31insPro)	GABBR2	Duplication (inframe_insertion)	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 2980438	NM_005458.8(GABBR2):c.2571C>A (p.His857Gln)	GABBR2 (H857Q)	Single nucleotide variant (missense 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 2974421	NM_005458.8(GABBR2):c.1771-9G>T	GABBR2	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 2971808	NM_005458.8(GABBR2):c.2348C>G (p.Ala783Gly)	GABBR2 (A783G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2971798	NM_004104.5(FASN):c.4737C>T (p.Ala1579=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2969869	NM_005458.8(GABBR2):c.745C>A (p.Arg249=)	GABBR2	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 2965261	NM_005458.8(GABBR2):c.2004+4G>A	GABBR2	Single nucleotide variant (intron 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 2963348	NM_005458.8(GABBR2):c.799-20A>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2963214	NM_005458.8(GABBR2):c.1378+6G>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 2962504	NM_005458.8(GABBR2):c.2733C>T (p.Asp911=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
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 2956894	NM_005458.8(GABBR2):c.132G>A (p.Arg44=)	GABBR2	Single nucleotide variant (synonymous 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 2954835	NM_005458.8(GABBR2):c.492C>T (p.Ala164=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2919846	NM_005458.8(GABBR2):c.21C>G (p.Ser7=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
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 2913880	NM_005458.8(GABBR2):c.1771-19G>T	GABBR2	Single nucleotide variant (intron 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 2912965	NM_005458.8(GABBR2):c.21C>T (p.Ser7=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2912563	NM_005458.8(GABBR2):c.1379-20G>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
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
Select item 2910270	NM_004104.5(FASN):c.6164-5C>G	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2910236	NM_005458.8(GABBR2):c.779C>G (p.Ala260Gly)	GABBR2 (A260G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2909502	NM_004104.5(FASN):c.5685C>T (p.Gly1895=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2908629	NM_004104.5(FASN):c.2593+14C>G	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2908212	NM_004104.5(FASN):c.6596-10G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2906357	NM_004104.5(FASN):c.1513G>A (p.Gly505Arg)	FASN (G505R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2906283	NM_004104.5(FASN):c.5740T>C (p.Leu1914=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2905980	NM_005458.8(GABBR2):c.306G>A (p.Arg102=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign

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