ClinVar for MedGen (Select 325057) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954194	NM_000814.6(GABRB3):c.593A>C (p.Lys198Thr)	GABRB3 (K113T +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2954133	NM_000814.6(GABRB3):c.456G>A (p.Gly152=)	GABRB3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2953315	NM_000814.6(GABRB3):c.89A>C (p.Asp30Ala)	GABRB3 (D30A)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2953178	NM_000814.6(GABRB3):c.416G>T (p.Arg139Leu)	GABRB3 (R139L +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2952567	NM_000814.6(GABRB3):c.835+20G>A	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2952192	NM_000814.6(GABRB3):c.1216_1217del (p.Ser406fs)	GABRB3 (S321fs +2 more)	Microsatellite (frameshift variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2952140	NM_000814.6(GABRB3):c.1115T>G (p.Leu372Arg)	GABRB3 (L287R +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2951781	NM_000814.6(GABRB3):c.227C>T (p.Ser76Phe)	GABRB3 (S76F)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2951613	NM_000814.6(GABRB3):c.544+11G>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2951260	NM_000814.6(GABRB3):c.1081-10G>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2951199	NM_000814.6(GABRB3):c.40T>G (p.Ser14Ala)	GABRB3 (S14A)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2951017	NM_000814.6(GABRB3):c.896A>G (p.Lys299Arg)	GABRB3 (K214R +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2950506	NM_000814.6(GABRB3):c.1384C>G (p.Leu462Val)	GABRB3 (L377V +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2949926	NM_000814.6(GABRB3):c.645G>A (p.Glu215=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2949842	NM_000814.6(GABRB3):c.238A>C (p.Met80Leu)	GABRB3 (M80L)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GPathogenic
Select item 2949169	NM_000814.6(GABRB3):c.1419C>G (p.Asn473Lys)	GABRB3 (N473K +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2948994	NM_000814.6(GABRB3):c.462-6T>A	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2948992	NM_000814.6(GABRB3):c.778C>A (p.Leu260Met)	GABRB3 (L189M +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2948400	NM_000814.6(GABRB3):c.866_904dup (p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)	GABRB3	Duplication (inframe_insertion)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely pathogenic
Select item 2947842	NM_000814.6(GABRB3):c.172+9G>C	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2947812	NM_000814.6(GABRB3):c.46C>T (p.Pro16Ser)	GABRB3 (P16S)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2947733	NM_000814.6(GABRB3):c.1081-5A>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2947221	NM_000814.6(GABRB3):c.817G>A (p.Ala273Thr)	GABRB3 (A188T +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GPathogenic
Select item 2947142	NM_000814.6(GABRB3):c.987C>G (p.Tyr329Ter)	GABRB3 (Y244* +2 more)	Single nucleotide variant (nonsense)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GPathogenic
Select item 2947130	NM_000814.6(GABRB3):c.1303C>G (p.Leu435Val)	GABRB3 (L364V +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2947001	NM_000814.6(GABRB3):c.967G>A (p.Glu323Lys)	GABRB3 (E238K +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2946393	NM_000814.6(GABRB3):c.845C>T (p.Thr282Ile)	GABRB3 (T197I +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2946385	NM_000814.6(GABRB3):c.666T>C (p.Asn222=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2945455	NM_000814.6(GABRB3):c.526A>G (p.Thr176Ala)	GABRB3 (T105A +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2945374	NM_000814.6(GABRB3):c.233T>A (p.Val78Asp)	GABRB3 (V78D)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2945274	NM_000814.6(GABRB3):c.240+13C>A	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2944988	NM_000814.6(GABRB3):c.25C>A (p.Leu9Ile)	GABRB3 (L9I)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GBenign
Select item 2944906	NM_000814.6(GABRB3):c.454G>A (p.Gly152Arg)	GABRB3 (G81R +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2944889	NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys)	GABRB3 (Y184C +2 more)	Single nucleotide variant (missense variant)	Seizure +2 more	GPathogenic/Likely pathogenic
Select item 2944317	NM_000814.6(GABRB3):c.1090C>T (p.His364Tyr)	GABRB3 (H279Y +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2944312	NM_000814.6(GABRB3):c.80+11G>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2944064	NM_000814.6(GABRB3):c.719A>G (p.Lys240Arg)	GABRB3 (K240R +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2943737	NM_000814.6(GABRB3):c.332G>A (p.Arg111Gln)	GABRB3 (R111Q +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2942991	NM_000814.6(GABRB3):c.1105T>G (p.Leu369Val)	GABRB3 (L298V +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2942973	NM_000814.6(GABRB3):c.9C>G (p.Gly3=)	GABRB3	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2942030	NM_000814.6(GABRB3):c.835+16A>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2941918	NM_000814.6(GABRB3):c.804T>C (p.Asn268=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2941600	NM_000814.6(GABRB3):c.545-2A>G	GABRB3	Single nucleotide variant (splice acceptor variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely pathogenic
Select item 2940898	NM_000814.6(GABRB3):c.943G>T (p.Val315Phe)	GABRB3 (V315F +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2940600	NM_000814.6(GABRB3):c.160C>T (p.Pro54Ser)	GABRB3 (P54S)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2940573	NM_000814.6(GABRB3):c.1111T>G (p.Ser371Ala)	GABRB3 (S371A +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2940406	NM_000814.6(GABRB3):c.366T>C (p.Tyr122=)	GABRB3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2939753	NM_000814.6(GABRB3):c.81-15C>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2938361	NM_000814.6(GABRB3):c.1086T>C (p.Asp362=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2937643	NM_000814.6(GABRB3):c.467C>T (p.Thr156Ile)	GABRB3 (T156I +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely pathogenic
Select item 2936790	NM_000814.6(GABRB3):c.15G>C (p.Ala5=)	GABRB3	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2936399	NM_000814.6(GABRB3):c.228C>T (p.Ser76=)	GABRB3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2936366	NM_000814.6(GABRB3):c.462-16A>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2934765	NM_000814.6(GABRB3):c.735C>T (p.Tyr245=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2934311	NM_000814.6(GABRB3):c.240+18C>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2934237	NM_000814.6(GABRB3):c.81-7C>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2933712	NM_000814.6(GABRB3):c.462-13C>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2933235	NM_000814.6(GABRB3):c.683-12T>C	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2933161	NM_000814.6(GABRB3):c.683-14T>C	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2933145	NM_000814.6(GABRB3):c.303G>A (p.Gly101=)	GABRB3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2932755	NM_000814.6(GABRB3):c.172+18G>A	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2932220	NM_000814.6(GABRB3):c.219C>T (p.Asp73=)	GABRB3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2932041	NM_000814.6(GABRB3):c.514G>C (p.Glu172Gln)	GABRB3 (E87Q +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2931736	NM_000814.6(GABRB3):c.240+19A>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2931557	NM_000814.6(GABRB3):c.1285C>T (p.Arg429Trp)	GABRB3 (R344W +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2931538	NM_000814.6(GABRB3):c.15G>A (p.Ala5=)	GABRB3	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2930307	NM_000814.6(GABRB3):c.173-10C>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2929529	NM_000814.6(GABRB3):c.683-10T>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2929253	NM_000814.6(GABRB3):c.1344A>C (p.Ile448=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2928234	NM_000814.6(GABRB3):c.81-19C>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2926844	NM_000814.6(GABRB3):c.1296T>C (p.Ser432=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign
Select item 2924720	NM_000814.6(GABRB3):c.683-11G>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2924500	NM_000814.6(GABRB3):c.240+10C>T	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2924373	NM_000814.6(GABRB3):c.156A>G (p.Leu52=)	GABRB3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2923851	NM_000814.6(GABRB3):c.118A>G (p.Thr40Ala)	GABRB3 (T40A)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2923598	NM_000814.6(GABRB3):c.609G>A (p.Val203=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2923481	NM_000814.6(GABRB3):c.1305C>G (p.Leu435=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2923246	NM_000814.6(GABRB3):c.1276A>C (p.Thr426Pro)	GABRB3 (T355P +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2922622	NM_000814.6(GABRB3):c.231A>T (p.Glu77Asp)	GABRB3 (E77D)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2922598	NM_000814.6(GABRB3):c.621G>A (p.Glu207=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2922592	NM_000814.6(GABRB3):c.48G>A (p.Pro16=)	GABRB3	Single nucleotide variant (intron variant +2 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2922512	NM_000814.6(GABRB3):c.1023G>T (p.Lys341Asn)	GABRB3 (K341N +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2922378	NM_000814.6(GABRB3):c.241-18C>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2922132	NM_000814.6(GABRB3):c.145G>A (p.Asp49Asn)	GABRB3 (D49N)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2922099	NM_000814.6(GABRB3):c.1368del (p.Pro457fs)	GABRB3 (P457fs +2 more)	Deletion (frameshift variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2921785	NM_000814.6(GABRB3):c.927C>A (p.Tyr309Ter)	GABRB3 (Y224* +2 more)	Single nucleotide variant (nonsense)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GPathogenic
Select item 2921380	NM_000814.6(GABRB3):c.387A>G (p.Ser129=)	GABRB3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely benign
Select item 2576925	NM_000814.6(GABRB3):c.26T>C (p.Leu9Pro)	GABRB3 (L9P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2423405	NC_000015.9:g.(?_26107444)_(28230334_?)del	GABRG3, GABRA5 +3 more	Deletion	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GPathogenic
Select item 2423404	NC_000015.9:g.(?_26792940)_(26866701_?)dup	GABRB3	Duplication	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GUncertain significance
Select item 2423403	NC_000015.9:g.(?_26792940)_(26793301_?)del	GABRB3	Deletion	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GUncertain significance
Select item 2423402	NC_000015.9:g.(?_26866441)_(26866701_?)del	GABRB3	Deletion	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GPathogenic
Select item 2419058	NM_000814.6(GABRB3):c.881G>A (p.Arg294Gln)	GABRB3 (R209Q +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GUncertain significance
Select item 2417744	NM_000814.6(GABRB3):c.1261C>T (p.Leu421Phe)	GABRB3 (L336F +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GBenign
Select item 2415736	NM_000814.6(GABRB3):c.544+14T>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GLikely benign

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