"GeneDx"[submitter] AND "GABRB2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1217644	NM_001371727.1(GABRB2):c.*211C>T	GABRB2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 464937	NM_001371727.1(GABRB2):c.1479A>T (p.Ile493=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2429722	NM_001371727.1(GABRB2):c.1465C>T (p.Arg489Trp)	GABRB2 (R451W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 840826	NM_001371727.1(GABRB2):c.1410C>T (p.Arg470=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1306162	NM_001371727.1(GABRB2):c.1385A>C (p.Gln462Pro)	GABRB2 (Q424P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386175	NM_001371727.1(GABRB2):c.1383G>A (p.Ala461=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1315081	NM_001371727.1(GABRB2):c.1382C>T (p.Ala461Val)	GABRB2 (A423V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 391753	NM_001371727.1(GABRB2):c.1377T>C (p.His459=)	GABRB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1311721	NM_001371727.1(GABRB2):c.1372C>T (p.Arg458Ter)	GABRB2 (R420* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 429416	NM_001371727.1(GABRB2):c.1352T>G (p.Phe451Cys)	GABRB2 (F451C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383240	NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn)	GABRB2 (S450N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 668508	NM_001371727.1(GABRB2):c.1320G>A (p.Gln440=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 380805	NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=)	GABRB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1313745	NM_001371727.1(GABRB2):c.1274G>C (p.Gly425Ala)	GABRB2 (G387A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 385483	NM_001371727.1(GABRB2):c.1227C>T (p.Leu409=)	GABRB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 678206	NM_001371727.1(GABRB2):c.1222A>C (p.Thr408Pro)	GABRB2 (T408P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GBenign/Likely benign
Select item 796398	NM_001371727.1(GABRB2):c.1213T>C (p.Leu405=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +1 more	GBenign
Select item 450931	NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg)	GABRB2 (H401R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1203273	NM_001371727.1(GABRB2):c.1191+339C>T	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212860	NM_001371727.1(GABRB2):c.1191+264G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669798	NM_001371727.1(GABRB2):c.1191+254T>C	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296046	NM_001371727.1(GABRB2):c.1191+187T>C	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383642	NM_001371727.1(GABRB2):c.1191G>A (p.Thr397=)	GABRB2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability +1 more	GBenign/Likely benign
Select item 386161	NM_001371727.1(GABRB2):c.1173C>T (p.Tyr391=)	GABRB2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability +1 more	GLikely benign
Select item 464936	NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp)	GABRB2 (R387W)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 512389	NM_001371727.1(GABRB2):c.1153A>T (p.Thr385Ser)	GABRB2 (T385S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 568443	NM_001371727.1(GABRB2):c.1118G>A (p.Arg373Gln)	GABRB2 (R373Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GBenign/Likely benign
Select item 513369	NM_001371727.1(GABRB2):c.1103A>G (p.Asn368Ser)	GABRB2 (N368S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517699	NM_001371727.1(GABRB2):c.1078-9G>A	GABRB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1197136	NM_001371727.1(GABRB2):c.1078-35G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677505	NM_001371727.1(GABRB2):c.1078-233T>G	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682649	NM_001371727.1(GABRB2):c.1077+304C>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 664230	NM_001371727.1(GABRB2):c.1077+6T>C	GABRB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 388338	NM_001371727.1(GABRB2):c.1063C>T (p.Leu355=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +1 more	GLikely benign
Select item 430415	NM_001371727.1(GABRB2):c.1043C>A (p.Ala348Asp)	GABRB2 (A348D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 383172	NM_001371727.1(GABRB2):c.1014A>G (p.Gln338=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +1 more	GLikely benign
Select item 430429	NM_001371727.1(GABRB2):c.1009C>T (p.Arg337Cys)	GABRB2 (R337C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1197740	NM_001371727.1(GABRB2):c.992T>C (p.Phe331Ser)	GABRB2 (F331S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388364	NM_001371727.1(GABRB2):c.984C>T (p.Tyr328=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +1 more	GBenign
Select item 1307046	NM_001371727.1(GABRB2):c.968A>T (p.Tyr323Phe)	GABRB2 (Y323F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452588	NM_001371727.1(GABRB2):c.950_951delinsCA (p.Phe317Ser)	GABRB2 (F317S)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 546260	NM_001371727.1(GABRB2):c.946G>A (p.Val316Ile)	GABRB2 (V316I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92 +2 more	GPathogenic/Likely pathogenic
Select item 1177964	NM_001371727.1(GABRB2):c.911C>T (p.Ala304Val)	GABRB2 (A304V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 265166	NM_001371727.1(GABRB2):c.909G>T (p.Lys303Asn)	GABRB2 (K303N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92 +1 more	GPathogenic/Likely pathogenic
Select item 427157	NM_001371727.1(GABRB2):c.904G>A (p.Val302Met)	GABRB2 (V302M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92 +1 more	GPathogenic/Likely pathogenic
Select item 421234	NM_001371727.1(GABRB2):c.902A>G (p.Tyr301Cys)	GABRB2 (Y301C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451524	NM_001371727.1(GABRB2):c.899C>T (p.Pro300Leu)	GABRB2 (P300L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 424303	NM_001371727.1(GABRB2):c.896T>G (p.Ile299Ser)	GABRB2 (I299S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3343258	NM_001371727.1(GABRB2):c.872_876dup (p.Arg293fs)	GABRB2 (R293fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 464940	NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)	GABRB2 (R293W)	Single nucleotide variant (missense variant)	Seizure +3 more	GPathogenic/Likely pathogenic
Select item 418222	NM_001371727.1(GABRB2):c.867C>A (p.Asn289Lys)	GABRB2 (N289K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 421916	NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr)	GABRB2 (I288T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 265165	NM_001371727.1(GABRB2):c.845T>C (p.Val282Ala)	GABRB2 (V282A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2430713	NM_001371727.1(GABRB2):c.833-2A>G	GABRB2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 681752	NM_001371727.1(GABRB2):c.833-203G>C	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677616	NM_001371727.1(GABRB2):c.832+241C>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207978	NM_001371727.1(GABRB2):c.832+236T>C	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247493	NM_001371727.1(GABRB2):c.832+57C>T	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386164	NM_001371727.1(GABRB2):c.832+9T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability +1 more	GLikely benign
Select item 388441	NM_001371727.1(GABRB2):c.816T>A (p.Ala272=)	GABRB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1691665	NM_001371727.1(GABRB2):c.814G>A (p.Ala272Thr)	GABRB2 (A272T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364778	NM_001371727.1(GABRB2):c.805G>C (p.Asp269His)	GABRB2 (D269H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383407	NM_001371727.1(GABRB2):c.747A>T (p.Thr249=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +1 more	GBenign/Likely benign
Select item 3252983	NM_001371727.1(GABRB2):c.744A>C (p.Gln248His)	GABRB2 (Q248H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 418957	NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr)	GABRB2 (I246T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 430271	NM_001371727.1(GABRB2):c.735T>A (p.Phe245Leu)	GABRB2 (F245L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2504432	NM_001371727.1(GABRB2):c.727G>A (p.Gly243Ser)	GABRB2 (G243S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388689	NM_001371727.1(GABRB2):c.723C>T (p.Asn241=)	GABRB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2573792	NM_001371727.1(GABRB2):c.720A>C (p.Arg240Ser)	GABRB2 (R240S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 677615	NM_001371727.1(GABRB2):c.680-118G>T	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677448	NM_001371727.1(GABRB2):c.680-174G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674493	NM_001371727.1(GABRB2):c.680-247C>T	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668791	NM_001371727.1(GABRB2):c.680-263G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293416	NM_001371727.1(GABRB2):c.679+43G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672888	NM_001371727.1(GABRB2):c.679+23A>C	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515606	NM_001371727.1(GABRB2):c.679+7A>T	GABRB2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 546301	NM_001371727.1(GABRB2):c.662A>G (p.Lys221Arg)	GABRB2 (K221R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 510798	NM_001371727.1(GABRB2):c.609G>A (p.Thr203=)	GABRB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 513365	NM_001371727.1(GABRB2):c.594A>G (p.Ala198=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 265164	NM_001371727.1(GABRB2):c.578G>A (p.Arg193His)	GABRB2 (R193H)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 513054	NM_001371727.1(GABRB2):c.542-8T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability +1 more	GBenign
Select item 380804	NM_001371727.1(GABRB2):c.542-11T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability +1 more	GBenign
Select item 419896	NM_001371727.1(GABRB2):c.542-32GT[7]	GABRB2	Microsatellite (intron variant)	Intellectual disability +1 more	GBenign
Select item 1256928	NM_001371727.1(GABRB2):c.542-40C>T	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238567	NM_001371727.1(GABRB2):c.542-58dup	GABRB2	Duplication (intron variant)	not provided	GBenign
Select item 1225556	NM_001371727.1(GABRB2):c.542-45G>T	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216957	NM_001371727.1(GABRB2):c.542-58_542-57dup	GABRB2	Duplication (intron variant)	not provided	GLikely benign
Select item 1293431	NM_001371727.1(GABRB2):c.542-46del	GABRB2	Deletion (intron variant)	not provided	GBenign
Select item 1293305	NM_001371727.1(GABRB2):c.542-46T>G	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268632	NM_001371727.1(GABRB2):c.542-49T>G	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266275	NM_001371727.1(GABRB2):c.542-50T>G	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680278	NM_001371727.1(GABRB2):c.542-80G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674492	NM_001371727.1(GABRB2):c.542-100A>G	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192058	NM_001371727.1(GABRB2):c.542-191G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187996	NM_001371727.1(GABRB2):c.542-233G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178531	NM_001371727.1(GABRB2):c.541+273G>A	GABRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668826	NM_001371727.1(GABRB2):c.541+250T>C	GABRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368158	NM_001371727.1(GABRB2):c.523A>G (p.Thr175Ala)	GABRB2 (T175A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426395	NM_001371727.1(GABRB2):c.485T>G (p.Met162Arg)	GABRB2 (M162R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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