"GeneDx"[submitter] AND "GABRB3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446303	NM_000814.6(GABRB3):c.1412A>G (p.Tyr471Cys)	GABRB3 (Y386C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696921	NM_000814.6(GABRB3):c.1342A>G (p.Ile448Val)	GABRB3 (I377V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 513864	NM_000814.6(GABRB3):c.1338T>C (p.Asn446=)	GABRB3	Single nucleotide variant (synonymous variant)	Seizure +3 more	GLikely benign
Select item 1410747	NM_000814.6(GABRB3):c.1327A>T (p.Thr443Ser)	GABRB3 (T358S +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GUncertain significance
Select item 1317379	NM_000814.6(GABRB3):c.1307A>C (p.Lys436Thr)	GABRB3 (K351T +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +2 more	GUncertain significance
Select item 386386	NM_000814.6(GABRB3):c.1293G>A (p.Arg431=)	GABRB3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 3378122	NM_000814.6(GABRB3):c.1286_1287insTAGAG (p.Arg431fs)	GABRB3 (R346fs +2 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1678800	NM_000814.6(GABRB3):c.1286G>A (p.Arg429Gln)	GABRB3 (R344Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 409960	NM_000814.6(GABRB3):c.1269C>G (p.His423Gln)	GABRB3 (H423Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +3 more	GBenign/Likely benign
Select item 681688	NM_000814.6(GABRB3):c.1266G>A (p.Pro422=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GLikely benign
Select item 447364	NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)	GABRB3 (P422L +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 676066	NM_000814.6(GABRB3):c.1241G>A (p.Arg414Gln)	GABRB3 (R343Q +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GLikely benign
Select item 450346	NM_000814.6(GABRB3):c.1241G>T (p.Arg414Leu)	GABRB3 (R414L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252776	NM_000814.6(GABRB3):c.1237G>A (p.Gly413Arg)	GABRB3 (G328R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488963	NM_000814.6(GABRB3):c.1225C>T (p.Arg409Ter)	GABRB3 (R409* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 537297	NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His)	GABRB3 (Y402H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2501408	NM_000814.6(GABRB3):c.1189A>C (p.Asn397His)	GABRB3 (N312H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430642	NM_000814.6(GABRB3):c.1163C>T (p.Thr388Ile)	GABRB3 (T303I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382687	NM_000814.6(GABRB3):c.1158C>T (p.Gly386=)	GABRB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1198875	NM_000814.6(GABRB3):c.1150G>A (p.Gly384Ser)	GABRB3 (G299S +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +2 more	GLikely benign
Select item 588438	NM_000814.6(GABRB3):c.1127A>G (p.Asn376Ser)	GABRB3 (N376S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 508232	NM_000814.6(GABRB3):c.1113G>A (p.Ser371=)	GABRB3	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 387193	NM_000814.6(GABRB3):c.1110A>G (p.Thr370=)	GABRB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 384055	NM_000814.6(GABRB3):c.1104G>C (p.Leu368=)	GABRB3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 238188	NM_000814.6(GABRB3):c.1081-10G>A	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GLikely benign
Select item 1202693	NM_000814.6(GABRB3):c.1081-31_1081-28del	GABRB3	Deletion (intron variant)	not provided	GLikely benign
Select item 674175	NM_000814.6(GABRB3):c.1080+306G>A	GABRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302838	NM_000814.6(GABRB3):c.1080+257dup	GABRB3	Duplication (intron variant)	not provided	GBenign
Select item 1280064	NM_000814.6(GABRB3):c.1080+256C>A	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256818	NM_000814.6(GABRB3):c.1080+15A>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +4 more	GBenign
Select item 1155717	NM_000814.6(GABRB3):c.1079G>A (p.Arg360Gln)	GABRB3 (R275Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 469571	NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp)	GABRB3 (R360W +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2663398	NM_000814.6(GABRB3):c.1055A>C (p.Asp352Ala)	GABRB3 (D267A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390235	NM_000814.6(GABRB3):c.1005C>G (p.Gly335=)	GABRB3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 256817	NM_000814.6(GABRB3):c.1005C>T (p.Gly335=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +4 more	GBenign
Select item 1316085	NM_000814.6(GABRB3):c.992del (p.Phe331fs)	GABRB3 (F246fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 469577	NM_000814.6(GABRB3):c.969G>A (p.Glu323=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 5 +3 more	GBenign/Likely benign
Select item 1318107	NM_000814.6(GABRB3):c.950T>C (p.Val317Ala)	GABRB3 (V232A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372653	NM_000814.6(GABRB3):c.935G>A (p.Gly312Asp)	GABRB3 (G227D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324443	NM_000814.6(GABRB3):c.914C>T (p.Ala305Val)	GABRB3 (A220V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +1 more	GPathogenic/Likely pathogenic
Select item 450287	NM_000814.6(GABRB3):c.914C>A (p.Ala305Asp)	GABRB3 (A305D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 839250	NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys)	GABRB3 (Y217C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +3 more	GPathogenic/Likely pathogenic
Select item 1320380	NM_000814.6(GABRB3):c.901C>G (p.Pro301Ala)	GABRB3 (P216A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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, 5 +2 more	GUncertain significance
Select item 427205	NM_000814.6(GABRB3):c.881G>C (p.Arg294Pro)	GABRB3 (R294P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 372868	NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe)	GABRB3 (I280F +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +2 more	GLikely pathogenic
Select item 386722	NM_000814.6(GABRB3):c.836-20C>T	GABRB3	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1293430	NM_000814.6(GABRB3):c.836-70A>G	GABRB3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 668799	NM_000814.6(GABRB3):c.836-336C>T	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677341	NM_000814.6(GABRB3):c.835+194C>T	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677339	NM_000814.6(GABRB3):c.835+153C>T	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507913	NM_000814.6(GABRB3):c.835+8C>T	GABRB3	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 565504	NM_000814.6(GABRB3):c.835+5G>A	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GUncertain significance
Select item 1204273	NM_000814.6(GABRB3):c.809A>G (p.Asp270Gly)	GABRB3 (D185G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686703	NM_000814.6(GABRB3):c.803A>G (p.Asn268Ser)	GABRB3 (N183S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256821	NM_000814.6(GABRB3):c.783G>A (p.Ser261=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +4 more	GBenign
Select item 1212578	NM_000814.6(GABRB3):c.771A>G (p.Ile257Met)	GABRB3 (I172M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 423595	NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)	GABRB3 (P253L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1810008	NM_000814.6(GABRB3):c.756G>A (p.Met252Ile)	GABRB3 (M167I +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 391322	NM_000814.6(GABRB3):c.753T>C (p.Tyr251=)	GABRB3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 3370949	NM_000814.6(GABRB3):c.742C>G (p.Leu248Val)	GABRB3 (L163V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393256	NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)	GABRB3 (R232Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 409959	NM_000814.6(GABRB3):c.683-7C>A	GABRB3	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 668798	NM_000814.6(GABRB3):c.683-257G>A	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682657	NM_000814.6(GABRB3):c.682+287T>C	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228678	NM_000814.6(GABRB3):c.682+102C>T	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382825	NM_000814.6(GABRB3):c.682+20A>G	GABRB3	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 5 +3 more	GBenign/Likely benign
Select item 1800640	NM_000814.6(GABRB3):c.676G>A (p.Ala226Thr)	GABRB3 (A141T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388008	NM_000814.6(GABRB3):c.675C>T (p.Phe225=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GLikely benign
Select item 1006590	NM_000814.6(GABRB3):c.649C>T (p.Arg217Cys)	GABRB3 (R132C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 384398	NM_000814.6(GABRB3):c.648C>T (p.His216=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GLikely benign
Select item 256820	NM_000814.6(GABRB3):c.603C>T (p.Thr201=)	GABRB3	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 1 +4 more	GBenign
Select item 383244	NM_000814.6(GABRB3):c.585C>T (p.Gly195=)	GABRB3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 1205481	NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln)	GABRB3 (R109Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1723205	NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter)	GABRB3 (R123* +1 more)	Single nucleotide variant (nonsense)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 571274	NM_000814.6(GABRB3):c.557C>T (p.Thr186Met)	GABRB3 (T186M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 429597	NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile)	GABRB3 (T185I +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GPathogenic/Likely pathogenic
Select item 3340580	NM_000814.6(GABRB3):c.550T>C (p.Tyr184His)	GABRB3 (Y113H +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1242908	NM_000814.6(GABRB3):c.545-90G>A	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186999	NM_000814.6(GABRB3):c.544+161_544+162del	GABRB3	Deletion (intron variant)	not provided	GLikely benign
Select item 1197021	NM_000814.6(GABRB3):c.544+88A>G	GABRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1052030	NM_000814.6(GABRB3):c.522C>G (p.Asn174Lys)	GABRB3 (N103K +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +2 more	GUncertain significance
Select item 1320937	NM_000814.6(GABRB3):c.513C>G (p.Asp171Glu)	GABRB3 (D100E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449695	NM_000814.6(GABRB3):c.509T>G (p.Leu170Arg)	GABRB3 (L170R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 537288	NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu)	GABRB3 (P169L +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GUncertain significance
Select item 1342889	NM_000814.6(GABRB3):c.486G>C (p.Met162Ile)	GABRB3 (M162I +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GUncertain significance
Select item 452365	NM_000814.6(GABRB3):c.485T>C (p.Met162Thr)	GABRB3 (M162T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 680288	NM_000814.6(GABRB3):c.462-90C>T	GABRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680287	NM_000814.6(GABRB3):c.461+232TA[2]	GABRB3	Microsatellite (intron variant)	not provided	GBenign
Select item 680286	NM_000814.6(GABRB3):c.461+195_461+196insT	GABRB3	Insertion (intron variant)	not provided	GBenign
Select item 1293314	NM_000814.6(GABRB3):c.461+140dup	GABRB3	Duplication (intron variant)	not provided	GBenign
Select item 680289	NM_000814.6(GABRB3):c.461+147_461+148dup	GABRB3	Duplication (intron variant)	not provided	GLikely benign
Select item 1696962	NM_000814.6(GABRB3):c.452A>G (p.Tyr151Cys)	GABRB3 (Y151C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1316886	NM_000814.6(GABRB3):c.445G>A (p.Val149Met)	GABRB3 (V149M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369455	NM_000814.6(GABRB3):c.421A>G (p.Ile141Val)	GABRB3 (I141V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1198757	NM_000814.6(GABRB3):c.400G>A (p.Val134Met)	GABRB3 (V134M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1318497	NM_000814.6(GABRB3):c.391G>T (p.Val131Leu)	GABRB3 (V131L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 374687	NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg)	GABRB3 (K127R +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 254261	NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn)	GABRB3 (D120N +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 43 +4 more	GPathogenic/Likely pathogenic
Select item 511868	NM_000814.6(GABRB3):c.357C>T (p.Pro119=)	GABRB3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign

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