"GeneDx"[submitter] AND "GNB5"[gene] - ClinVar

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Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 1294710	NM_016194.4(GNB5):c.1177-66T>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296652	NM_016194.4(GNB5):c.1177-137GT[10]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1291625	NM_016194.4(GNB5):c.1177-137GT[9]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1236670	NM_016194.4(GNB5):c.1177-143A>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253120	NM_016194.4(GNB5):c.1177-212dup	GNB5	Duplication (intron variant)	not provided	GBenign
Select item 1273605	NM_016194.4(GNB5):c.1177-282_1177-281insTA	GNB5	Insertion (intron variant)	not provided	GBenign
Select item 1285880	NM_016194.4(GNB5):c.1177-293G>T	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267799	NM_016194.4(GNB5):c.1177-311G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237613	NM_016194.4(GNB5):c.1176+226dup	GNB5	Duplication (intron variant)	not provided	GBenign
Select item 1174285	NM_016194.4(GNB5):c.1176+116G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268830	NM_016194.4(GNB5):c.1176+79G>C	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3375602	NM_016194.4(GNB5):c.1154del (p.Gly385fs)	GNB5 (G291fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1030537	NM_016194.4(GNB5):c.1132G>A (p.Asp378Asn)	GNB5 (D284N +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +2 more	GUncertain significance
Select item 1310997	NM_016194.4(GNB5):c.1127C>T (p.Ser376Phe)	GNB5 (S282F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 268099	NM_016194.4(GNB5):c.1120C>T (p.Arg374Ter)	GNB5 (R332* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1208084	NM_016194.4(GNB5):c.1108G>A (p.Val370Ile)	GNB5 (V276I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788806	NM_016194.4(GNB5):c.1107C>T (p.Arg369=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 817365	NM_016194.4(GNB5):c.1092del (p.Phe364fs)	GNB5 (F322fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 450608	NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)	GNB5 (Y344* +2 more)	Single nucleotide variant (nonsense)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 268102	NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)	GNB5 (Y302* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1268998	NM_016194.4(GNB5):c.1010-100G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217736	NM_016194.4(GNB5):c.1010-289C>G	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219656	NM_016194.4(GNB5):c.1010-301T>C	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219222	NM_016194.4(GNB5):c.1009+253del	GNB5	Deletion (intron variant)	not provided	GLikely benign
Select item 1267725	NM_016194.4(GNB5):c.1009+218G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188738	NM_016194.4(GNB5):c.1009+175T>C	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250819	NM_016194.4(GNB5):c.1009+105T>C	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281289	NM_016194.4(GNB5):c.1009+92A>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265327	NM_016194.4(GNB5):c.1009+90C>T	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205791	NM_016194.4(GNB5):c.1009+61C>T	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277831	NM_016194.4(GNB5):c.936A>G (p.Ala312=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 451576	NM_016194.4(GNB5):c.920T>G (p.Leu307Arg)	GNB5 (L307R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219527	NM_016194.4(GNB5):c.913-27G>C	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209433	NM_016194.4(GNB5):c.913-31G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221100	NM_016194.4(GNB5):c.913-295C>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193896	NM_016194.4(GNB5):c.912+268A>G	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310878	NM_016194.4(GNB5):c.907G>A (p.Ala303Thr)	GNB5 (A209T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699768	NM_016194.4(GNB5):c.875G>C (p.Ser292Thr)	GNB5 (S198T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220731	NM_016194.4(GNB5):c.864-50C>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178542	NM_016194.4(GNB5):c.863+277A>G	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257763	NM_016194.4(GNB5):c.772-73A>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222070	NM_016194.4(GNB5):c.772-294C>T	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202870	NM_016194.4(GNB5):c.771+160C>T	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210958	NM_016194.4(GNB5):c.762C>T (p.Phe254=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254155	NM_016194.4(GNB5):c.755A>G (p.Asn252Ser)	GNB5 (N158S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878938	NM_016194.4(GNB5):c.718G>A (p.Val240Ile)	GNB5 (V146I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223596	NM_016194.4(GNB5):c.661C>T (p.Leu221=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769882	NM_016194.4(GNB5):c.638C>T (p.Ala213Val)	GNB5 (A171V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1246035	NM_016194.4(GNB5):c.628-138GT[22]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1242834	NM_016194.4(GNB5):c.628-138GT[24]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1231501	NM_016194.4(GNB5):c.628-138GT[25]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1208372	NM_016194.4(GNB5):c.628-138GT[27]	GNB5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1178253	NM_016194.4(GNB5):c.628-138GT[23]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1259364	NM_016194.4(GNB5):c.627+198_627+206del	GNB5	Deletion (intron variant)	not provided	GBenign
Select item 1247226	NM_016194.4(GNB5):c.627+88G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273642	NM_016194.4(GNB5):c.567G>A (p.Lys189=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1272479	NM_016194.4(GNB5):c.495-230C>T	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250421	NM_016194.4(GNB5):c.494+275dup	GNB5	Duplication (intron variant)	not provided	GBenign
Select item 1177897	NM_016194.4(GNB5):c.494+292del	GNB5	Deletion (intron variant)	not provided	GBenign
Select item 1190826	NM_016194.4(GNB5):c.494+288_494+289insC	GNB5	Insertion (intron variant)	not provided	GLikely benign
Select item 1296648	NM_016194.4(GNB5):c.494+288A>C	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216759	NM_016194.4(GNB5):c.418-17T>C	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223070	NM_016194.4(GNB5):c.418-208T>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248930	NM_016194.4(GNB5):c.417+280A>T	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187032	NM_016194.4(GNB5):c.417+77C>T	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215240	NM_016194.4(GNB5):c.376-139del	GNB5	Deletion (intron variant)	not provided	GLikely benign
Select item 1294682	NM_016194.4(GNB5):c.375+267_375+268del	GNB5	Deletion (intron variant)	not provided	GBenign
Select item 1232500	NM_016194.4(GNB5):c.375+65G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216717	NM_016194.4(GNB5):c.375+26G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254029	NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)	GNB5 (S81L +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +2 more	GPathogenic
Select item 426541	NM_016194.4(GNB5):c.348_352del (p.Asp116fs)	GNB5 (D116fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1800782	NM_016194.4(GNB5):c.337T>C (p.Trp113Arg)	GNB5 (W113R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517015	NM_016194.4(GNB5):c.312C>T (p.His104=)	GNB5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 517014	NM_016194.4(GNB5):c.252G>A (p.Ala84=)	GNB5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1260485	NM_016194.4(GNB5):c.239-27G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198323	NM_016194.4(GNB5):c.239-191C>G	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239044	NM_016194.4(GNB5):c.239-301T>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204292	NM_016194.4(GNB5):c.239-301T>A	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270209	NM_016194.4(GNB5):c.238+269del	GNB5, LOC130057083	Deletion (intron variant)	not provided	GBenign
Select item 1247171	NM_016194.4(GNB5):c.238+269T>C	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199120	NM_016194.4(GNB5):c.238+265G>T	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193655	NM_016194.4(GNB5):c.238+207G>A	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209531	NM_016194.4(GNB5):c.238+154G>C	GNB5, LOC130057083	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1188787	NM_016194.4(GNB5):c.165G>T (p.Ala55=)	GNB5, LOC130057083	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1247959	NM_016194.4(GNB5):c.127-44A>G	GNB5, LOC130057083	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1277738	NM_016194.4(GNB5):c.127-197C>G	CERNA1, GNB5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1194949	NM_016194.4(GNB5):c.127-340C>A	CERNA1, GNB5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1218201	NM_016194.4(GNB5):c.127-384G>C	CERNA1, GNB5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1277164	NM_016194.4(GNB5):c.126+268G>T	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326436	NM_016194.4(GNB5):c.61C>T (p.Arg21Ter)	CERNA1, GNB5 (R21*)	Single nucleotide variant (nonsense)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 770786	NM_016194.4(GNB5):c.22G>A (p.Val8Ile)	CERNA1, GNB5 (V8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1235093	NM_016194.4(GNB5):c.-18-270A>G	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213395	NM_016194.4(GNB5):c.-18-311T>C	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284059	NM_016194.4(GNB5):c.-18-319G>A	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244293	NM_016194.4(GNB5):c.-65T>C	CERNA1, GNB5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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Items: 96