ClinVar for MedGen (Select 934679) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359062	NM_000814.6(GABRB3):c.845C>G (p.Thr282Ser)	GABRB3 (T197S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 3258097	NM_000814.6(GABRB3):c.728T>C (p.Ile243Thr)	GABRB3 (I158T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 3255155	NM_000814.6(GABRB3):c.406G>A (p.Val136Met)	GABRB3 (V136M +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 3251936	NM_000814.6(GABRB3):c.76C>T (p.Gln26Ter)	GABRB3 (Q26*)	Single nucleotide variant (nonsense +2 more)	Developmental and epileptic encephalopathy, 43	GPathogenic
Select item 2503046	NM_000814.6(GABRB3):c.1280A>G (p.His427Arg)	GABRB3 (H342R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 2500725	NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)	GABRB3 (L225R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GPathogenic
Select item 2442349	NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe)	GABRB3 (L165F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 2098861	NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)	GABRB3 (L52V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 43 +2 more	GPathogenic/Likely pathogenic
Select item 2088227	NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)	GABRB3 (D61A +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GUncertain significance
Select item 1805816	NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val)	GABRB3 (A362V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	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 1709509	NM_000814.6(GABRB3):c.589G>T (p.Asp197Tyr)	GABRB3 (D112Y +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 1701763	NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe)	GABRB3 (S179F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +1 more	GUncertain significance
Select item 1696530	NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys)	GABRB3 (R142C +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence, susceptibility to, 5 +2 more	GUncertain significance
Select item 1691843	NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly)	GABRB3 (R51G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 1684759	NM_000814.6(GABRB3):c.883G>T (p.Glu295Ter)	GABRB3 (E210* +2 more)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 1453717	NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile)	GABRB3 (T287I +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +1 more	GPathogenic
Select item 1370912	NM_000814.6(GABRB3):c.1081G>A (p.Val361Met)	GABRB3 (V290M +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	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 1320161	NM_000814.6(GABRB3):c.778C>G (p.Leu260Val)	GABRB3 (L175V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
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 1170843	NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg)	GABRB3 (G7R)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 43 +3 more	GBenign/Likely benign
Select item 1164045	NM_000814.6(GABRB3):c.675C>G (p.Phe225Leu)	GABRB3 (F140L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GPathogenic
Select item 1053404	NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del)	GABRB3 (V139del +2 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 43 +2 more	GUncertain significance
Select item 1028380	NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro)	GABRB3 (T142P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 1028379	NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly)	GABRB3 (R95G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 1003531	NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)	GABRB3 (K219R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +2 more	GPathogenic/Likely pathogenic
Select item 984646	NM_000814.6(GABRB3):c.630G>C (p.Gln210His)	GABRB3 (Q125H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 983110	NM_000814.6(GABRB3):c.8del (p.Gly3fs)	GABRB3 (G3fs)	Deletion (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 983109	NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu)	GABRB3 (K260E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43 +2 more	GUncertain significance
Select item 975911	NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln)	GABRB3 (L171Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 973239	NM_000814.6(GABRB3):c.173-2A>T	GABRB3	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 43	GLikely pathogenic
Select item 973061	NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile)	GABRB3 (L310I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	Gnot provided
Select item 930710	NM_000814.6(GABRB3):c.461+15T>G	GABRB3	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 43	GUncertain significance
Select item 870184	NM_000814.6(GABRB3):c.733T>C (p.Tyr245His)	GABRB3 (Y174H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	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 813738	NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)	GABRB3 (R147* +2 more)	Single nucleotide variant (nonsense)	Epilepsy, childhood absence, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 653036	NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)	GABRB3 (R26* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 653022	NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser)	GABRB3 (N266S +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 1 +2 more	GUncertain significance
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 559623	NM_000814.6(GABRB3):c.239T>G (p.Met80Arg)	GABRB3 (M80R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 548619	NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala)	GABRB3 (T196A +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 537293	NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr)	GABRB3 (A98T +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 43 +2 more	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 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 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 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 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 254264	NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr)	GABRB3 (A305T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GPathogenic
Select item 254263	NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys)	GABRB3 (Q249K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GPathogenic
Select item 254262	NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe)	GABRB3 (Y182F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 43	GPathogenic
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 16191	NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)	GABRB3 (P11S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 16190	NM_000814.6(GABRB3):c.650G>A (p.Arg217His)	GABRB3 (R132H +2 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity

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Items: 54