"GeneDx"[submitter] AND "GABRG2"[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 58393	GRCh38/hg38 5q34(chr5:161909955-164086917)x1	CCNG1, GABRG2 +17 more	Copy number loss	See cases	GPathogenic
Select item 352633	NM_198904.4(GABRG2):c.-154C>T	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 352637	NM_198904.4(GABRG2):c.-4del	GABRG2	Deletion (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205557	NM_198904.4(GABRG2):c.11C>T (p.Pro4Leu)	GABRG2 (P4L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 205558	NM_198904.4(GABRG2):c.13A>T (p.Asn5Tyr)	GABRG2 (N5Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 387546	NM_198904.4(GABRG2):c.15T>C (p.Asn5=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 414845	NM_198904.4(GABRG2):c.36A>T (p.Ser12=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +3 more	GLikely benign
Select item 205536	NM_198904.4(GABRG2):c.37G>A (p.Val13Ile)	GABRG2 (V13I)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +2 more	GConflicting classifications of pathogenicity
Select item 205559	NM_198904.4(GABRG2):c.70A>G (p.Thr24Ala)	GABRG2 (T24A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 391289	NM_198904.4(GABRG2):c.99C>T (p.Leu33=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +3 more	GLikely benign
Select item 2574334	NM_198904.4(GABRG2):c.101A>C (p.Tyr34Ser)	GABRG2 (Y12S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 205560	NM_198904.4(GABRG2):c.107+3A>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 252809	NM_198904.4(GABRG2):c.107+6A>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +2 more	GConflicting classifications of pathogenicity
Select item 668848	NM_198904.4(GABRG2):c.107+11C>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +2 more	GLikely benign
Select item 205537	NM_198904.4(GABRG2):c.107+12C>T	GABRG2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1193665	NM_198904.4(GABRG2):c.107+111G>A	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680290	NM_198904.4(GABRG2):c.107+223T>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680291	NM_198904.4(GABRG2):c.108-182G>A	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 352639	NM_198904.4(GABRG2):c.135C>T (p.Asp45=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1706959	NM_198904.4(GABRG2):c.137A>G (p.Tyr46Cys)	GABRG2 (Y17C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309189	NM_198904.4(GABRG2):c.137A>C (p.Tyr46Ser)	GABRG2 (Y17S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 516181	NM_198904.4(GABRG2):c.162A>G (p.Thr54=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 3364698	NM_198904.4(GABRG2):c.190G>T (p.Gly64Cys)	GABRG2 (G35C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 588971	NM_198904.4(GABRG2):c.219G>A (p.Leu73=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 205539	NM_198904.4(GABRG2):c.220C>G (p.Leu74Val)	GABRG2 (L74V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1962392	NM_198904.4(GABRG2):c.241C>T (p.Leu81Phe)	GABRG2 (L52F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 137417	NM_198904.4(GABRG2):c.243T>A (p.Leu81=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +4 more	GConflicting classifications of pathogenicity
Select item 16208	NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln)	GABRG2 (R82Q +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +2 more	GPathogenic
Select item 127233	NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser)	GABRG2 (P83S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 383705	NM_198904.4(GABRG2):c.259+19C>T	GABRG2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 137418	NM_198904.4(GABRG2):c.259+20G>A	GABRG2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 675219	NM_198904.4(GABRG2):c.259+60A>T	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196694	NM_198904.4(GABRG2):c.259+273A>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210715	NM_198904.4(GABRG2):c.259+295T>C	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240717	NM_198904.4(GABRG2):c.260-183G>A	GABRG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422111	NM_198904.4(GABRG2):c.260-16_260-15del	GABRG2	Deletion (intron variant)	Febrile seizures, familial, 8 +2 more	GLikely benign
Select item 379114	NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)	GABRG2 (T90M +3 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +2 more	GConflicting classifications of pathogenicity
Select item 205561	NM_198904.4(GABRG2):c.272T>G (p.Leu91Ter)	GABRG2 (L91* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3365479	NM_198904.4(GABRG2):c.290A>G (p.Tyr97Cys)	GABRG2 (Y2C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 129127	NM_198904.4(GABRG2):c.315C>T (p.Asn105=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +4 more	GBenign
Select item 205541	NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	GABRG2 (A106T +4 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +4 more	GPathogenic/Likely pathogenic
Select item 137419	NM_198904.4(GABRG2):c.327+12A>C	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +2 more	GBenign/Likely benign
Select item 1218241	NM_198904.4(GABRG2):c.327+66G>A	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137420	NM_198904.4(GABRG2):c.328-20T>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +2 more	GBenign
Select item 1304621	NM_198904.4(GABRG2):c.329_334dup (p.Tyr111_Thr112insLysTyr)	GABRG2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2580843	NM_198904.4(GABRG2):c.330A>T (p.Glu110Asp)	GABRG2 (E107D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 390540	NM_198904.4(GABRG2):c.333C>T (p.Tyr111=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 3372580	NM_198904.4(GABRG2):c.343A>G (p.Ile115Val)	GABRG2 (I112V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 503773	NM_198904.4(GABRG2):c.351dup (p.Ala118fs)	GABRG2 (A118fs +4 more)	Duplication (frameshift variant +1 more)	Seizure +3 more	GPathogenic
Select item 581040	NM_198904.4(GABRG2):c.353C>T (p.Ala118Val)	GABRG2 (A118V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 129128	NM_198904.4(GABRG2):c.354G>A (p.Ala118=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +3 more	GBenign/Likely benign
Select item 1522918	NM_198904.4(GABRG2):c.359C>T (p.Thr120Met)	GABRG2 (T117M +4 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +2 more	GUncertain significance
Select item 137421	NM_198904.4(GABRG2):c.360G>A (p.Thr120=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 668302	NM_198904.4(GABRG2):c.420C>T (p.Asn140=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +2 more	GLikely benign
Select item 2443604	NM_198904.4(GABRG2):c.432A>T (p.Lys144Asn)	GABRG2 (K115N +5 more)	Single nucleotide variant (missense variant)	not provided	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 450747	NM_198904.4(GABRG2):c.471del (p.Ala158fs)	GABRG2 (A158fs +5 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 546433	NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr)	GABRG2 (K157T +5 more)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 8 +2 more	GUncertain significance
Select item 1307038	NM_198904.4(GABRG2):c.472G>A (p.Ala158Thr)	GABRG2 (A129T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 651395	NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys)	GABRG2 (N167K +5 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +2 more	GPathogenic/Likely pathogenic
Select item 510634	NM_198904.4(GABRG2):c.525T>C (p.Asp175=)	GABRG2	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 8 +2 more	GLikely benign
Select item 934755	NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)	GABRG2 (R82* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 570636	NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln)	GABRG2 (R177Q +5 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence 2 +2 more	GConflicting classifications of pathogenicity
Select item 379047	NM_198904.4(GABRG2):c.540C>A (p.Tyr180Ter)	GABRG2 (Y180* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 384014	NM_198904.4(GABRG2):c.548+14A>G	GABRG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1212781	NM_198904.4(GABRG2):c.548+126A>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266312	NM_198904.4(GABRG2):c.548+189T>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193669	NM_198904.4(GABRG2):c.548+224A>T	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668950	NM_198904.4(GABRG2):c.548+306C>T	GABRG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206965	NM_198904.4(GABRG2):c.549-213G>C	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 205543	NM_198904.4(GABRG2):c.549-3T>G	GABRG2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1312739	NM_198904.4(GABRG2):c.557T>C (p.Ile186Thr)	GABRG2 (I157T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450026	NM_198904.4(GABRG2):c.571C>A (p.Gln191Lys)	GABRG2 (Q191K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507005	NM_198904.4(GABRG2):c.574T>C (p.Leu192=)	GABRG2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 93434	NM_198904.4(GABRG2):c.588C>T (p.Asn196=)	GABRG2	Single nucleotide variant (synonymous variant)	Febrile seizures, familial, 8 +4 more	GBenign
Select item 3372461	NM_198904.4(GABRG2):c.630T>G (p.Ser210Arg)	GABRG2 (S115R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137422	NM_198904.4(GABRG2):c.631+18T>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +2 more	GBenign
Select item 1193785	NM_198904.4(GABRG2):c.631+55T>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217606	NM_198904.4(GABRG2):c.631+275dup	GABRG2	Duplication (intron variant)	not provided	GLikely benign
Select item 1238348	NM_198904.4(GABRG2):c.631+275del	GABRG2	Deletion (intron variant)	not provided	GBenign
Select item 1203532	NM_198904.4(GABRG2):c.631+1007C>A	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681742	NM_198904.4(GABRG2):c.631+1046C>T	GABRG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217976	NM_198904.4(GABRG2):c.631+1105A>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 205532	NM_198904.4(GABRG2):c.631+1209TTGTT[5]	GABRG2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 585903	NM_198904.4(GABRG2):c.631+1248A>G	GABRG2 (I215V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 423880	NM_198904.4(GABRG2):c.631+1254C>T	GABRG2 (Q217*)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 137423	NM_198904.4(GABRG2):c.631+1283G>A	GABRG2	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign
Select item 137424	NM_198904.4(GABRG2):c.631+1284G>T	GABRG2 (A227S)	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign
Select item 975390	NM_198904.4(GABRG2):c.632-1283C>G	GABRG2 (H228Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585904	NM_198904.4(GABRG2):c.632-1264G>T	GABRG2 (G235C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 137425	NM_198904.4(GABRG2):c.632-1262C>A	GABRG2	Single nucleotide variant (intron variant +1 more)	not specified	GBenign
Select item 137426	NM_198904.4(GABRG2):c.632-1212C>T	GABRG2	Single nucleotide variant (intron variant)	not specified	GConflicting classifications of pathogenicity
Select item 1276668	NM_198904.4(GABRG2):c.632-1175A>G	GABRG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 675185	NM_198904.4(GABRG2):c.632-1164G>A	GABRG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680292	NM_198904.4(GABRG2):c.632-1087C>T	GABRG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250508	NM_198904.4(GABRG2):c.632-160C>T	GABRG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213437	NM_198904.4(GABRG2):c.632-46C>T	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668350	NM_198904.4(GABRG2):c.632-8C>T	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +2 more	GLikely benign

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