ClinVar for MedGen (Select 334707) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246368	NC_000005.9:g.(?_161381199)_(161531016_?)del	GABRG2	Deletion	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 3246367	NC_000005.9:g.(?_161495006)_(161580374_?)dup	GABRG2	Duplication	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 3246366	NC_000005.9:g.(?_161520814)_(161531052_?)del	GABRG2	Deletion	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 3246364	NC_000005.9:g.(?_161277817)_(161580374_?)del	GABRA1, GABRG2	Deletion	Epilepsy, childhood absence 2 +4 more	GPathogenic
Select item 2954515	NM_198904.4(GABRG2):c.1008T>A (p.Asp336Glu)	GABRG2 (D335E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2954383	NM_198904.4(GABRG2):c.308C>T (p.Pro103Leu)	GABRG2 (P81L +4 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2954334	NM_198904.4(GABRG2):c.1181C>A (p.Ser394Ter)	GABRG2 (S291* +13 more)	Single nucleotide variant (nonsense +1 more)	Febrile seizures, familial, 8 +1 more	GPathogenic
Select item 2954128	NM_198904.4(GABRG2):c.259+5G>A	GABRG2	Single nucleotide variant (intron variant)	Febrile seizures, familial, 8 +2 more	GUncertain significance
Select item 2954034	NM_198904.4(GABRG2):c.260T>G (p.Val87Gly)	GABRG2 (V65G +3 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2954033	NM_198904.4(GABRG2):c.1357del (p.Ala453fs)	GABRG2 (A305fs +13 more)	Deletion (frameshift variant +1 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2954031	NM_198904.4(GABRG2):c.1036G>T (p.Val346Phe)	GABRG2 (V346F +8 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2953906	NM_198904.4(GABRG2):c.349T>G (p.Phe117Val)	GABRG2 (F22V +4 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2953830	NM_198904.4(GABRG2):c.691G>T (p.Asp231Tyr)	GABRG2 (D209Y +6 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2953693	NM_198904.4(GABRG2):c.476A>C (p.Asp159Ala)	GABRG2 (D19A +5 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2953641	NM_198904.4(GABRG2):c.381A>G (p.Lys127=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2953601	NM_198904.4(GABRG2):c.922+17T>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2953474	NM_198904.4(GABRG2):c.549-1G>T	GABRG2	Single nucleotide variant (splice acceptor variant)	Epilepsy, childhood absence 2 +1 more	GLikely pathogenic
Select item 2952833	NM_198904.4(GABRG2):c.770-17T>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2952322	NM_198904.4(GABRG2):c.1057T>C (p.Tyr353His)	GABRG2 (Y324H +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2952271	NM_198904.4(GABRG2):c.801T>C (p.Asp267=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2952021	NM_198904.4(GABRG2):c.1348G>A (p.Asp450Asn)	GABRG2 (D310N +13 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2951439	NM_198904.4(GABRG2):c.141A>G (p.Glu47=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2951015	NM_198904.4(GABRG2):c.654_664del (p.Ile218fs)	GABRG2 (I215fs +6 more)	Deletion (frameshift variant)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2950707	NM_198904.4(GABRG2):c.328-3C>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2950086	NM_198904.4(GABRG2):c.1348G>C (p.Asp450His)	GABRG2 (D310H +13 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2950084	NM_198904.4(GABRG2):c.782del (p.Val261fs)	GABRG2 (V121fs +8 more)	Deletion (frameshift variant)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2949443	NM_198904.4(GABRG2):c.306_311del (p.Pro103_Val104del)	GABRG2	Deletion (inframe_deletion +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2949442	NM_198904.4(GABRG2):c.1037T>G (p.Val346Gly)	GABRG2 (V324G +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2949001	NM_198904.4(GABRG2):c.1236C>A (p.Tyr412Ter)	GABRG2 (Y390* +13 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2948757	NM_198904.4(GABRG2):c.1302A>T (p.Thr434=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2948614	NM_198904.4(GABRG2):c.1128+6T>C	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2948551	NM_198904.4(GABRG2):c.1153-4C>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2948529	NM_198904.4(GABRG2):c.776A>G (p.Tyr259Cys)	GABRG2 (Y119C +8 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2947824	NM_198904.4(GABRG2):c.888C>A (p.Ile296=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2947699	NM_198904.4(GABRG2):c.291T>A (p.Tyr97Ter)	GABRG2 (Y2* +4 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2947447	NM_198904.4(GABRG2):c.1324A>G (p.Ile442Val)	GABRG2 (I294V +13 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2947376	NM_198904.4(GABRG2):c.1202dup (p.Asn401fs)	GABRG2 (N298fs +13 more)	Duplication (frameshift variant +1 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2947146	NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)	GABRG2 (K60* +3 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2947119	NM_198904.4(GABRG2):c.935T>A (p.Val312Asp)	GABRG2 (V172D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2946881	NM_198904.4(GABRG2):c.230_231del (p.Gly76_Tyr77insTer)	GABRG2	Microsatellite (nonsense +1 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2946455	NM_198904.4(GABRG2):c.276T>G (p.Ile92Met)	GABRG2 (I63M +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2946226	NM_198904.4(GABRG2):c.631+1G>T	GABRG2	Single nucleotide variant (splice donor variant)	Epilepsy, childhood absence 2 +1 more	GLikely pathogenic
Select item 2945546	NM_198904.4(GABRG2):c.1409T>C (p.Val470Ala)	GABRG2 (V330A +13 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2945410	NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)	GABRG2 (Y258C +8 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +1 more	GPathogenic
Select item 2944785	NM_198904.4(GABRG2):c.504G>C (p.Arg168Ser)	GABRG2 (R168S +5 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2944765	NM_198904.4(GABRG2):c.679G>A (p.Val227Ile)	GABRG2 (V267I +6 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2944515	NM_198904.4(GABRG2):c.841A>T (p.Ile281Phe)	GABRG2 (I141F +8 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2944513	NM_198904.4(GABRG2):c.542C>G (p.Thr181Ser)	GABRG2 (T41S +5 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +1 more	GLikely pathogenic
Select item 2944223	NM_198904.4(GABRG2):c.1153-17C>T	GABRG2	Single nucleotide variant (intron variant)	Febrile seizures, familial, 8 +1 more	GLikely benign
Select item 2943855	NM_198904.4(GABRG2):c.843C>T (p.Ile281=)	GABRG2	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 8 +1 more	GLikely benign
Select item 2943852	NM_198904.4(GABRG2):c.48_49inv (p.Pro17Thr)	GABRG2 (P17T)	Inversion (missense variant +2 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2943839	NM_198904.4(GABRG2):c.631+5_631+8del	GABRG2	Microsatellite (splice donor variant)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2943648	NM_198904.4(GABRG2):c.293T>A (p.Val98Glu)	GABRG2 (V95E +4 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2943296	NM_198904.4(GABRG2):c.923-11C>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2942908	NM_198904.4(GABRG2):c.453C>T (p.Phe151=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2942750	NM_198904.4(GABRG2):c.769+8_769+9delinsAA	GABRG2	Indel (intron variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2942743	NM_198904.4(GABRG2):c.769+2T>C	GABRG2	Single nucleotide variant (splice donor variant)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2942714	NM_198904.4(GABRG2):c.206T>C (p.Ile69Thr)	GABRG2 (I40T +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2942435	NM_198904.4(GABRG2):c.134A>G (p.Asp45Gly)	GABRG2 (D45G +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2942175	NM_198904.4(GABRG2):c.548+4T>C	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2942062	NM_198904.4(GABRG2):c.988T>A (p.Ser330Thr)	GABRG2 (S190T +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2941826	NM_198904.4(GABRG2):c.632-4G>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2941681	NM_198904.4(GABRG2):c.302T>C (p.Ile101Thr)	GABRG2 (I101T +4 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2941514	NM_198904.4(GABRG2):c.334A>C (p.Thr112Pro)	GABRG2 (T17P +4 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2940904	NM_198904.4(GABRG2):c.462T>C (p.Asn154=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2940204	NM_198904.4(GABRG2):c.251A>T (p.Asp84Val)	GABRG2 (D81V +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2940186	NM_198904.4(GABRG2):c.1400T>G (p.Val467Gly)	GABRG2 (V466G +13 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2939813	NM_198904.4(GABRG2):c.245G>T (p.Arg82Leu)	GABRG2 (R60L +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely pathogenic
Select item 2939080	NM_198904.4(GABRG2):c.721T>G (p.Ser241Ala)	GABRG2 (S101A +6 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2938291	NM_198904.4(GABRG2):c.108-12G>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2935806	NM_198904.4(GABRG2):c.1153-11C>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2934489	NM_198904.4(GABRG2):c.1358C>A (p.Ala453Asp)	GABRG2 (A350D +13 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2934388	NM_198904.4(GABRG2):c.128A>T (p.Asp43Val)	GABRG2 (D40V +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +2 more	GUncertain significance
Select item 2934254	NM_198904.4(GABRG2):c.107+13C>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2933863	NM_198904.4(GABRG2):c.804G>A (p.Leu268=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2932340	NM_198904.4(GABRG2):c.548G>T (p.Arg183Met)	GABRG2 (R88M +5 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2932012	NM_198904.4(GABRG2):c.104C>T (p.Pro35Leu)	GABRG2 (P13L +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2931992	NM_198904.4(GABRG2):c.1128+11T>C	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2929809	NM_198904.4(GABRG2):c.1153-15C>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2929707	NM_198904.4(GABRG2):c.1127C>T (p.Pro376Leu)	GABRG2 (P281L +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2929674	NM_198904.4(GABRG2):c.1359T>G (p.Ala453=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2929508	NM_198904.4(GABRG2):c.107+15T>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2929363	NM_198904.4(GABRG2):c.550T>A (p.Leu184Met)	GABRG2 (L181M +5 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2928889	NM_198904.4(GABRG2):c.1173C>A (p.Arg391=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2927761	NM_198904.4(GABRG2):c.1318G>A (p.Gly440Arg)	GABRG2 (G300R +13 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2927609	NM_198904.4(GABRG2):c.770-17T>C	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2925953	NM_198904.4(GABRG2):c.33C>T (p.Ser11=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2925386	NM_198904.4(GABRG2):c.1353del (p.Tyr452fs)	GABRG2 (Y443fs +13 more)	Deletion (frameshift variant +1 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2923750	NM_198904.4(GABRG2):c.144T>A (p.Asp48Glu)	GABRG2 (D48E +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2922637	NM_198904.4(GABRG2):c.1367_1370del (p.Phe456fs)	GABRG2 (F426fs +13 more)	Deletion (frameshift variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2922428	NM_198904.4(GABRG2):c.835A>G (p.Thr279Ala)	GABRG2 (T278A +8 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2507179	NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)	GABRG2 (F11fs +5 more)	Deletion (frameshift variant)	Epilepsy, childhood absence 2 +2 more	GPathogenic
Select item 2423406	NC_000005.9:g.(?_161530875)_(161580374_?)del	GABRG2	Deletion	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 2187774	NM_198904.4(GABRG2):c.1237G>A (p.Gly413Ser)	GABRG2 (G391S +13 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2168119	NM_198904.4(GABRG2):c.108-14A>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2166207	NM_198904.4(GABRG2):c.862G>A (p.Val288Ile)	GABRG2 (V148I +8 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2152511	NM_198904.4(GABRG2):c.173C>T (p.Thr58Ile)	GABRG2 (T29I +3 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2130068	NM_198904.4(GABRG2):c.774T>C (p.Asp258=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2125776	NM_198904.4(GABRG2):c.669G>A (p.Lys223=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2125285	NM_198904.4(GABRG2):c.744C>T (p.Thr248=)	GABRG2	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign

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