ClinVar for Gene (Select 9568) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362079	NM_005458.8(GABBR2):c.2412+1dup	GABBR2	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3361133	NM_005458.8(GABBR2):c.2066G>A (p.Ser689Asn)	GABBR2 (S689N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360265	NM_005458.8(GABBR2):c.2499G>T (p.Glu833Asp)	GABBR2 (E833D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357076	NM_005458.8(GABBR2):c.2788G>A (p.Val930Met)	GABBR2 (V930M)	Single nucleotide variant (missense variant)	GABBR2-related disorder	GUncertain significance
Select item 3348825	NM_005458.8(GABBR2):c.1118T>C (p.Met373Thr)	GABBR2 (M373T)	Single nucleotide variant (missense variant)	GABBR2-related disorder	GUncertain significance
Select item 3346613	NM_005458.8(GABBR2):c.971C>T (p.Ser324Phe)	GABBR2 (S324F)	Single nucleotide variant (missense variant)	GABBR2-related disorder	GUncertain significance
Select item 3343571	NM_005458.8(GABBR2):c.206C>T (p.Ala69Val)	GABBR2 (A69V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343052	NM_005458.8(GABBR2):c.1688del (p.Gly563fs)	GABBR2 (G563fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3340957	NM_005458.8(GABBR2):c.667G>T (p.Asp223Tyr)	GABBR2, LOC126860700 (D223Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340864	NM_005458.8(GABBR2):c.2787T>A (p.His929Gln)	GABBR2 (H929Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340554	NM_005458.8(GABBR2):c.2767G>T (p.Ala923Ser)	GABBR2 (A923S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3338550	NM_005458.8(GABBR2):c.1047G>A (p.Val349=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3280381	NM_005458.8(GABBR2):c.803A>G (p.Tyr268Cys)	GABBR2 (Y268C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280380	NM_005458.8(GABBR2):c.2011G>A (p.Gly671Ser)	GABBR2 (G671S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280379	NM_005458.8(GABBR2):c.1066G>A (p.Gly356Arg)	GABBR2 (G356R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257445	NM_005458.8(GABBR2):c.1330G>T (p.Ala444Ser)	GABBR2 (A444S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245128	NC_000009.11:g.(?_101470679)_(101611374_?)del	ANKS6, GABBR2 +1 more	Deletion	Epileptic encephalopathy	GLikely benign
Select item 3063851	NM_005458.8(GABBR2):c.181C>T (p.Leu61Phe)	GABBR2 (L61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3026318	NM_005458.8(GABBR2):c.312T>C (p.Tyr104=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided	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 3014211	NM_005458.8(GABBR2):c.306G>C (p.Arg102=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3013237	NM_005458.8(GABBR2):c.2257G>T (p.Ala753Ser)	GABBR2 (A753S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
Select item 3011806	NM_005458.8(GABBR2):c.631-16T>C	GABBR2, LOC126860700	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 3005236	NM_005458.8(GABBR2):c.1893+16C>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2994185	NM_005458.8(GABBR2):c.1236+14C>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
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 2983330	NM_005458.8(GABBR2):c.89_91dup (p.Pro30_Leu31insPro)	GABBR2	Duplication (inframe_insertion)	Epileptic encephalopathy	GUncertain significance
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 2974421	NM_005458.8(GABBR2):c.1771-9G>T	GABBR2	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 2969869	NM_005458.8(GABBR2):c.745C>A (p.Arg249=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2965261	NM_005458.8(GABBR2):c.2004+4G>A	GABBR2	Single nucleotide variant (intron 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 2956894	NM_005458.8(GABBR2):c.132G>A (p.Arg44=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
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 2913880	NM_005458.8(GABBR2):c.1771-19G>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
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 2910236	NM_005458.8(GABBR2):c.779C>G (p.Ala260Gly)	GABBR2 (A260G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2905980	NM_005458.8(GABBR2):c.306G>A (p.Arg102=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2905721	NM_005458.8(GABBR2):c.1581G>A (p.Gly527=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2904291	NM_005458.8(GABBR2):c.2122G>T (p.Ala708Ser)	GABBR2 (A708S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2900293	NM_005458.8(GABBR2):c.1663-10T>C	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2891862	NM_005458.8(GABBR2):c.1771-7T>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2891371	NM_005458.8(GABBR2):c.198G>A (p.Lys66=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2887287	NM_005458.8(GABBR2):c.321+17C>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2886554	NM_005458.8(GABBR2):c.2461G>A (p.Glu821Lys)	GABBR2 (E821K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2884988	NM_005458.8(GABBR2):c.1379-14T>C	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2883177	NM_005458.8(GABBR2):c.231G>A (p.Val77=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2881039	NM_005458.8(GABBR2):c.1530-12_1530-11del	GABBR2	Deletion (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2880404	NM_005458.8(GABBR2):c.931A>G (p.Met311Val)	GABBR2 (M311V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
Select item 2879267	NM_005458.8(GABBR2):c.1503C>T (p.Phe501=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2877496	NM_005458.8(GABBR2):c.1254G>A (p.Arg418=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2876129	NM_005458.8(GABBR2):c.90_101dup (p.Leu35_Ala36insLeuLeuProLeu)	GABBR2	Duplication (inframe_insertion)	Epileptic encephalopathy	GUncertain significance
Select item 2874241	NM_005458.8(GABBR2):c.454G>C (p.Val152Leu)	GABBR2 (V152L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2868366	NM_005458.8(GABBR2):c.912G>T (p.Arg304=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2861863	NM_005458.8(GABBR2):c.1108C>T (p.Gln370Ter)	GABBR2 (Q370*)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GUncertain significance
Select item 2858689	NM_005458.8(GABBR2):c.92TGC[4] (p.Leu33_Pro34insLeu)	GABBR2	Microsatellite (inframe_insertion)	Epileptic encephalopathy	GUncertain significance
Select item 2857654	NM_005458.8(GABBR2):c.2229+8C>G	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2856732	NM_005458.8(GABBR2):c.1529+14G>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2852968	NM_005458.8(GABBR2):c.1330G>A (p.Ala444Thr)	GABBR2 (A444T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 2848329	NM_005458.8(GABBR2):c.1455C>T (p.Leu485=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2844784	NM_005458.8(GABBR2):c.2586C>T (p.Pro862=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2844034	NM_005458.8(GABBR2):c.1054A>G (p.Ser352Gly)	GABBR2 (S352G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2843181	NM_005458.8(GABBR2):c.1236+13C>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2841610	NM_005458.8(GABBR2):c.2230-8C>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2838856	NM_005458.8(GABBR2):c.1527G>T (p.Gln509His)	GABBR2 (Q509H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2837643	NM_005458.8(GABBR2):c.508C>A (p.Pro170Thr)	GABBR2 (P170T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2837427	NM_005458.8(GABBR2):c.1778A>G (p.Lys593Arg)	GABBR2 (K593R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2836494	NM_005458.8(GABBR2):c.33G>A (p.Gly11=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2835045	NM_005458.8(GABBR2):c.1037G>T (p.Arg346Leu)	GABBR2 (R346L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2832136	NM_005458.8(GABBR2):c.322-9G>A	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2831964	NM_005458.8(GABBR2):c.911G>C (p.Arg304Pro)	GABBR2 (R304P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2830999	NM_005458.8(GABBR2):c.1771-15C>T	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2825009	NM_005458.8(GABBR2):c.1963A>G (p.Ile655Val)	GABBR2 (I655V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2824933	NM_005458.8(GABBR2):c.1424G>T (p.Arg475Leu)	GABBR2 (R475L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2824785	NM_005458.8(GABBR2):c.977A>G (p.Gln326Arg)	GABBR2 (Q326R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2822630	NM_005458.8(GABBR2):c.2413-4_2413-3delinsCC	GABBR2	Indel (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 2822111	NM_005458.8(GABBR2):c.686C>A (p.Thr229Asn)	GABBR2, LOC126860700 (T229N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2821027	NM_005458.8(GABBR2):c.1228G>A (p.Gly410Arg)	GABBR2 (G410R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2820993	NM_005458.8(GABBR2):c.512A>T (p.Tyr171Phe)	GABBR2 (Y171F)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2815120	NM_005458.8(GABBR2):c.1667G>A (p.Arg556Lys)	GABBR2 (R556K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2814308	NM_005458.8(GABBR2):c.824G>A (p.Ser275Asn)	GABBR2 (S275N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2813632	NM_005458.8(GABBR2):c.142C>G (p.Arg48Gly)	GABBR2 (R48G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2812898	NM_005458.8(GABBR2):c.1966T>C (p.Trp656Arg)	GABBR2 (W656R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2812544	NM_005458.8(GABBR2):c.2172G>A (p.Val724=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2812319	NM_005458.8(GABBR2):c.735G>A (p.Gly245=)	GABBR2	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 2811847	NM_005458.8(GABBR2):c.263T>A (p.Ile88Asn)	GABBR2 (I88N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 2810264	NM_005458.8(GABBR2):c.2526C>G (p.Asn842Lys)	GABBR2 (N842K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2808114	NM_005458.8(GABBR2):c.1529+17del	GABBR2	Deletion (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2807218	NM_005458.8(GABBR2):c.920T>G (p.Leu307Arg)	GABBR2 (L307R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2804951	NM_005458.8(GABBR2):c.2542+3A>G	GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 2803969	NM_005458.8(GABBR2):c.590G>T (p.Arg197Leu)	GABBR2 (R197L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance

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