GNB5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 2665011	GRCh38/hg38 15q21.2(chr15:52095744-52533191)	LOC130057077, LOC130057078 +23 more	Copy number loss	not provided	GLikely pathogenic
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 744868	NM_016194.4(GNB5):c.1176+7G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1685857	NM_016194.4(GNB5):c.1160G>C (p.Trp387Ser)	GNB5 (W293S +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome	GPathogenic
Select item 2645350	NM_016194.4(GNB5):c.1152T>A (p.Ser384=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100606	NM_016194.4(GNB5):c.1133A>G (p.Asp378Gly)	GNB5 (D284G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1335182	NM_016194.4(GNB5):c.1125T>C (p.Val375=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2692563	NM_016194.4(GNB5):c.1103A>T (p.Asn368Ile)	GNB5 (N274I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100605	NM_016194.4(GNB5):c.1094G>A (p.Gly365Glu)	GNB5 (G271E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683309	NM_016194.4(GNB5):c.1092T>A (p.Phe364Leu)	GNB5 (F270L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817365	NM_016194.4(GNB5):c.1092del (p.Phe364fs)	GNB5 (F322fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2617789	NM_016194.4(GNB5):c.1056G>T (p.Trp352Cys)	GNB5 (W258C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286582	NM_016194.4(GNB5):c.1034A>G (p.Asn345Ser)	GNB5 (N303S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2538766	NM_016194.4(GNB5):c.954C>G (p.Ile318Met)	GNB5 (I224M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1277831	NM_016194.4(GNB5):c.936A>G (p.Ala312=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3100611	NM_016194.4(GNB5):c.931C>T (p.Arg311Trp)	GNB5 (R269W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2470293	NM_016194.4(GNB5):c.916C>T (p.Arg306Cys)	GNB5 (R212C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3100610	NM_016194.4(GNB5):c.911C>T (p.Thr304Met)	GNB5 (T304M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470491	NM_016194.4(GNB5):c.911C>A (p.Thr304Lys)	GNB5 (T210K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1335183	NM_016194.4(GNB5):c.864-2A>G	GNB5	Single nucleotide variant (splice acceptor 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 2575918	NM_016194.4(GNB5):c.863G>A (p.Arg288Gln)	GNB5 (R246Q +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome	GPathogenic
Select item 2215513	NM_016194.4(GNB5):c.820G>A (p.Val274Met)	GNB5 (V274M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737707	NM_016194.4(GNB5):c.810C>T (p.Ser270=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466567	NM_016194.4(GNB5):c.806G>A (p.Arg269His)	GNB5 (R227H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033806	NM_016194.4(GNB5):c.790A>G (p.Met264Val)	GNB5 (M264V +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome	GUncertain significance
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 2322088	NM_016194.4(GNB5):c.666G>A (p.Trp222Ter)	GNB5 (W222* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1223596	NM_016194.4(GNB5):c.661C>T (p.Leu221=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1180780	NM_016194.4(GNB5):c.640_643del (p.Ser214fs)	GNB5 (S120fs +2 more)	Microsatellite (frameshift variant)	Abnormality of the nervous system	GLikely pathogenic
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 735842	NM_016194.4(GNB5):c.627+9G>T	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2214296	NM_016194.4(GNB5):c.571G>A (p.Val191Ile)	GNB5 (V191I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1723418	NM_016194.4(GNB5):c.494+1G>T	GNB5	Single nucleotide variant (splice donor variant)	GNB5-related disorder	GLikely pathogenic
Select item 3100609	NM_016194.4(GNB5):c.488C>T (p.Ala163Val)	GNB5 (A121V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575919	NM_016194.4(GNB5):c.481del (p.Ala161fs)	GNB5 (A119fs +2 more)	Deletion (frameshift variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome	GPathogenic
Select item 792914	NM_016194.4(GNB5):c.471A>T (p.Pro157=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3100608	NM_016194.4(GNB5):c.466G>A (p.Ala156Thr)	GNB5 (A114T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575917	NM_016194.4(GNB5):c.458G>A (p.Cys153Tyr)	GNB5 (C111Y +1 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome	GPathogenic
Select item 724785	NM_016194.4(GNB5):c.444G>A (p.Thr148=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100607	NM_016194.4(GNB5):c.424G>A (p.Ala142Thr)	GNB5 (A48T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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

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