ClinVar for Gene (Select 10681) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337676	NM_016194.4(GNB5):c.841_851del (p.Glu281fs)	GNB5 (E187fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3337152	NM_016194.4(GNB5):c.500del (p.Leu167fs)	GNB5 (L125fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3281776	NM_016194.4(GNB5):c.283A>C (p.Met95Leu)	GNB5 (M1L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281774	NM_016194.4(GNB5):c.350A>C (p.Lys117Thr)	GNB5 (K117T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281773	NM_016194.4(GNB5):c.670G>A (p.Val224Met)	GNB5 (V130M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257685	NM_016194.4(GNB5):c.417+27T>C	GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3256586	NM_016194.4(GNB5):c.819C>A (p.Cys273Ter)	GNB5 (C179* +2 more)	Single nucleotide variant (nonsense)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome	GLikely pathogenic
Select item 3254993	NM_016194.4(GNB5):c.662T>C (p.Leu221Pro)	GNB5 (L127P +2 more)	Single nucleotide variant (missense variant)	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	GUncertain significance
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 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 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 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 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 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 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 2692565	NM_016194.4(GNB5):c.375+1G>A	GNB5	Single nucleotide variant (splice donor variant)	GNB5-related disorder	GLikely pathogenic
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 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
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 2665011	GRCh38/hg38 15q21.2(chr15:52095744-52533191)	LOC130057077, LOC130057078 +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 2645350	NM_016194.4(GNB5):c.1152T>A (p.Ser384=)	GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2614063	NM_016194.4(GNB5):c.176G>T (p.Ser59Ile)	GNB5, LOC130057083 (S59I +1 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 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 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 2575916	NM_016194.4(GNB5):c.368C>A (p.Ser123Ter)	GNB5 (S123* +1 more)	Single nucleotide variant (nonsense)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome	GPathogenic
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 2530172	NM_016194.4(GNB5):c.340T>C (p.Cys114Arg)	GNB5 (C114R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477334	NM_016194.4(GNB5):c.313G>A (p.Gly105Arg)	GNB5 (G63R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471293	NM_016194.4(GNB5):c.14C>T (p.Thr5Ile)	CERNA1, GNB5 (T5I)	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 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 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 2460379	NM_016194.4(GNB5):c.164C>T (p.Ala55Val)	GNB5, LOC130057083 (A13V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
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 2307129	NM_016194.4(GNB5):c.26A>G (p.Asn9Ser)	CERNA1, GNB5 (N9S)	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 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 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 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 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	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 1723418	NM_016194.4(GNB5):c.494+1G>T	GNB5	Single nucleotide variant (splice donor variant)	GNB5-related disorder	GLikely pathogenic
Select item 1709824	NM_016194.4(GNB5):c.292A>G (p.Arg98Gly)	GNB5 (R4G +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome	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 1694471	NM_016194.4(GNB5):c.239-2A>C	GNB5	Single nucleotide variant (splice acceptor variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +1 more	GPathogenic
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 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1335183	NM_016194.4(GNB5):c.864-2A>G	GNB5	Single nucleotide variant (splice acceptor 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 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 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 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 1296652	NM_016194.4(GNB5):c.1177-137GT[10]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1296648	NM_016194.4(GNB5):c.494+288A>C	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294710	NM_016194.4(GNB5):c.1177-66T>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294682	NM_016194.4(GNB5):c.375+267_375+268del	GNB5	Deletion (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 1285880	NM_016194.4(GNB5):c.1177-293G>T	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284059	NM_016194.4(GNB5):c.-18-319G>A	CERNA1, 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 1277831	NM_016194.4(GNB5):c.936A>G (p.Ala312=)	GNB5	Single nucleotide variant (synonymous variant)	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 1277164	NM_016194.4(GNB5):c.126+268G>T	CERNA1, 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 1273605	NM_016194.4(GNB5):c.1177-282_1177-281insTA	GNB5	Insertion (intron 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 1270209	NM_016194.4(GNB5):c.238+269del	GNB5, LOC130057083	Deletion (intron variant)	not provided	GBenign
Select item 1268998	NM_016194.4(GNB5):c.1010-100G>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268830	NM_016194.4(GNB5):c.1176+79G>C	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 1267725	NM_016194.4(GNB5):c.1009+218G>A	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 1260485	NM_016194.4(GNB5):c.239-27G>A	GNB5	Single nucleotide variant (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 1257763	NM_016194.4(GNB5):c.772-73A>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
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 1253120	NM_016194.4(GNB5):c.1177-212dup	GNB5	Duplication (intron variant)	not provided	GBenign
Select item 1250819	NM_016194.4(GNB5):c.1009+105T>C	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 1248930	NM_016194.4(GNB5):c.417+280A>T	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
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 1247226	NM_016194.4(GNB5):c.627+88G>A	GNB5	Single nucleotide variant (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 1246035	NM_016194.4(GNB5):c.628-138GT[22]	GNB5	Microsatellite (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
Select item 1242834	NM_016194.4(GNB5):c.628-138GT[24]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1239044	NM_016194.4(GNB5):c.239-301T>G	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 1236670	NM_016194.4(GNB5):c.1177-143A>G	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235093	NM_016194.4(GNB5):c.-18-270A>G	CERNA1, GNB5	Single nucleotide variant (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 1231501	NM_016194.4(GNB5):c.628-138GT[25]	GNB5	Microsatellite (intron variant)	not provided	GBenign
Select item 1223596	NM_016194.4(GNB5):c.661C>T (p.Leu221=)	GNB5	Single nucleotide variant (synonymous 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 1222070	NM_016194.4(GNB5):c.772-294C>T	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221100	NM_016194.4(GNB5):c.913-295C>A	GNB5	Single nucleotide variant (intron variant)	not provided	GBenign

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