ClinVar for Gene (Select 23221) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373598	NM_015178.3(RHOBTB2):c.1043G>A (p.Cys348Tyr)	RHOBTB2 (C348Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372322	NM_015178.3(RHOBTB2):c.1717A>T (p.Lys573Ter)	RHOBTB2 (K573* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3368114	NM_015178.3(RHOBTB2):c.641T>C (p.Leu214Pro)	RHOBTB2 (L214P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362271	NM_015178.3(RHOBTB2):c.610A>T (p.Ile204Phe)	RHOBTB2 (I204F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 3342763	NM_015178.3(RHOBTB2):c.1991A>G (p.His664Arg)	RHOBTB2 (H664R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337518	NM_015178.3(RHOBTB2):c.1454G>T (p.Arg485Leu)	RHOBTB2 (R485L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3314210	NM_015178.3(RHOBTB2):c.1654C>T (p.Arg552Trp)	RHOBTB2 (R559W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253460	NM_015178.3(RHOBTB2):c.607G>T (p.Ala203Ser)	RHOBTB2 (A203S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245561	NC_000008.10:g.(?_22872183)_(22873276_?)del	RHOBTB2	Deletion	not provided	GUncertain significance
Select item 3234862	NM_015178.3(RHOBTB2):c.1342A>G (p.Ile448Val)	RHOBTB2 (I448V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 3154057	NM_015178.3(RHOBTB2):c.1837C>T (p.Leu613Phe)	RHOBTB2 (L620F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154056	NM_015178.3(RHOBTB2):c.1279C>T (p.Arg427Trp)	RHOBTB2 (R449W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3054504	NM_001160037.2(RHOBTB2):c.8C>A (p.Ala3Glu)	RHOBTB2 (A3E)	Single nucleotide variant (missense variant +1 more)	RHOBTB2-related disorder	GLikely benign
Select item 3053231	NM_015178.3(RHOBTB2):c.2034C>G (p.Tyr678Ter)	RHOBTB2 (Y678* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 3023318	NM_015178.3(RHOBTB2):c.296+19C>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022494	NM_015178.3(RHOBTB2):c.739G>C (p.Asp247His)	RHOBTB2 (D254H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022428	NM_015178.3(RHOBTB2):c.594C>T (p.Asp198=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020135	NM_015178.3(RHOBTB2):c.987_995del (p.His332_His334del)	RHOBTB2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3011360	NM_015178.3(RHOBTB2):c.1959G>A (p.Met653Ile)	RHOBTB2 (M653I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010863	NM_015178.3(RHOBTB2):c.13A>G (p.Met5Val)	RHOBTB2 (M12V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010243	NM_015178.3(RHOBTB2):c.1871C>T (p.Ala624Val)	RHOBTB2 (A646V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008858	NM_015178.3(RHOBTB2):c.277C>T (p.Arg93Cys)	RHOBTB2 (R100C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3007808	NM_015178.3(RHOBTB2):c.723G>A (p.Pro241=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006199	NM_015178.3(RHOBTB2):c.1861-3C>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3005693	NM_015178.3(RHOBTB2):c.2106C>T (p.Leu702=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005670	NM_015178.3(RHOBTB2):c.1772-13G>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003603	NM_015178.3(RHOBTB2):c.420C>T (p.Cys140=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002653	NM_015178.3(RHOBTB2):c.1621-14C>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002425	NM_015178.3(RHOBTB2):c.1021C>T (p.Arg341Ter)	RHOBTB2 (R341* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2999574	NM_015178.3(RHOBTB2):c.120C>T (p.Leu40=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999416	NM_015178.3(RHOBTB2):c.297-17T>C	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998933	NM_015178.3(RHOBTB2):c.1502-15G>A	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997710	NM_015178.3(RHOBTB2):c.673C>T (p.Gln225Ter)	RHOBTB2 (Q225* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2996055	NM_015178.3(RHOBTB2):c.897C>A (p.Asp299Glu)	RHOBTB2 (D321E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2994939	NM_015178.3(RHOBTB2):c.2145CTC[2] (p.Ser719del)	RHOBTB2 (S726del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2994606	NM_015178.3(RHOBTB2):c.475T>C (p.Leu159=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990716	NM_015178.3(RHOBTB2):c.1148G>T (p.Gly383Val)	RHOBTB2 (G383V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987984	NM_015178.3(RHOBTB2):c.584del (p.Gly195fs)	RHOBTB2 (G195fs +2 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2986882	NM_015178.3(RHOBTB2):c.912G>T (p.Glu304Asp)	RHOBTB2 (E304D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2985945	NM_015178.3(RHOBTB2):c.617C>T (p.Ala206Val)	RHOBTB2 (A206V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985830	NM_015178.3(RHOBTB2):c.1035T>C (p.Phe345=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985034	NM_015178.3(RHOBTB2):c.686T>A (p.Leu229Gln)	RHOBTB2 (L251Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983680	NM_015178.3(RHOBTB2):c.2039G>A (p.Arg680Gln)	RHOBTB2 (R680Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2980842	NM_015178.3(RHOBTB2):c.665G>A (p.Arg222His)	RHOBTB2 (R229H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2977848	NM_015178.3(RHOBTB2):c.282C>T (p.Arg94=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977321	NM_015178.3(RHOBTB2):c.1050C>T (p.Ser350=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977028	NM_015178.3(RHOBTB2):c.1861-13C>T	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974795	NM_015178.3(RHOBTB2):c.1017G>T (p.Leu339=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974626	NM_015178.3(RHOBTB2):c.1343T>C (p.Ile448Thr)	RHOBTB2 (I470T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973732	NM_015178.3(RHOBTB2):c.1248G>A (p.Lys416=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973731	NM_015178.3(RHOBTB2):c.879T>C (p.Tyr293=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972157	NM_015178.3(RHOBTB2):c.2172G>A (p.Ser724=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970472	NM_015178.3(RHOBTB2):c.2165C>T (p.Ser722Phe)	RHOBTB2 (S722F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966289	NM_015178.3(RHOBTB2):c.921C>A (p.Gly307=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962827	NM_015178.3(RHOBTB2):c.232G>A (p.Val78Ile)	RHOBTB2 (V85I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2960504	NM_015178.3(RHOBTB2):c.1797G>A (p.Met599Ile)	RHOBTB2 (M599I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958909	NM_015178.3(RHOBTB2):c.1502-9_1502-7del	RHOBTB2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2957858	NM_015178.3(RHOBTB2):c.1409A>G (p.Asn470Ser)	RHOBTB2 (N470S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957460	NM_015178.3(RHOBTB2):c.1501+12G>A	RHOBTB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956943	NM_015178.3(RHOBTB2):c.1461C>A (p.Thr487=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920219	NM_015178.3(RHOBTB2):c.1576G>A (p.Ala526Thr)	RHOBTB2 (A526T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2920218	NM_015178.3(RHOBTB2):c.730G>T (p.Val244Leu)	RHOBTB2 (V244L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2908475	NM_015178.3(RHOBTB2):c.1088G>A (p.Arg363His)	RHOBTB2 (R363H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2905973	NM_015178.3(RHOBTB2):c.1333C>G (p.Leu445Val)	RHOBTB2 (L445V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2903288	NM_015178.3(RHOBTB2):c.1655G>A (p.Arg552Gln)	RHOBTB2 (R552Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897442	NM_015178.3(RHOBTB2):c.2054G>A (p.Arg685His)	RHOBTB2 (R685H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895853	NM_015178.3(RHOBTB2):c.1743C>G (p.Leu581=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888418	NM_015178.3(RHOBTB2):c.757G>C (p.Glu253Gln)	RHOBTB2 (E275Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886043	NC_000008.11:g.22994616C>T	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881888	NM_015178.3(RHOBTB2):c.33C>T (p.Asn11=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879943	NM_015178.3(RHOBTB2):c.1665G>A (p.Leu555=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876492	NM_015178.3(RHOBTB2):c.296+15_296+16delinsCG	RHOBTB2	Indel (intron variant)	not provided	GUncertain significance
Select item 2875850	NM_015178.3(RHOBTB2):c.1045G>A (p.Glu349Lys)	RHOBTB2 (E349K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874822	NM_015178.3(RHOBTB2):c.630C>T (p.Ser210=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871205	NM_015178.3(RHOBTB2):c.691G>A (p.Ala231Thr)	RHOBTB2 (A253T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871068	NM_015178.3(RHOBTB2):c.1362G>C (p.Leu454=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868925	NC_000008.11:g.22994637C>T	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859119	NM_015178.3(RHOBTB2):c.1746C>T (p.Cys582=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858376	NM_015178.3(RHOBTB2):c.123C>T (p.Thr41=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856948	NM_015178.3(RHOBTB2):c.1914C>T (p.Asn638=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855707	NM_015178.3(RHOBTB2):c.1855G>A (p.Ala619Thr)	RHOBTB2 (A619T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855187	NM_015178.3(RHOBTB2):c.293G>A (p.Gly98Glu)	RHOBTB2 (G98E +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2851376	NM_015178.3(RHOBTB2):c.203G>T (p.Arg68Leu)	RHOBTB2 (R90L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850329	NM_015178.3(RHOBTB2):c.956A>G (p.His319Arg)	RHOBTB2 (H319R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849963	NM_015178.3(RHOBTB2):c.2012A>T (p.Tyr671Phe)	RHOBTB2 (Y678F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849830	NM_015178.3(RHOBTB2):c.437A>G (p.Tyr146Cys)	RHOBTB2 (Y146C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848627	NM_015178.3(RHOBTB2):c.2169C>T (p.Ser723=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841868	NM_015178.3(RHOBTB2):c.610A>G (p.Ile204Val)	RHOBTB2 (I211V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2841593	NM_015178.3(RHOBTB2):c.780G>A (p.Leu260=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841318	NM_015178.3(RHOBTB2):c.472C>A (p.Pro158Thr)	RHOBTB2 (P158T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840028	NM_015178.3(RHOBTB2):c.707C>T (p.Pro236Leu)	RHOBTB2 (P243L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838412	NM_015178.3(RHOBTB2):c.789G>C (p.Pro263=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837968	NM_015178.3(RHOBTB2):c.1442C>A (p.Ala481Asp)	RHOBTB2 (A488D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836517	NM_015178.3(RHOBTB2):c.91A>G (p.Ile31Val)	RHOBTB2 (I31V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834184	NM_015178.3(RHOBTB2):c.778C>T (p.Leu260=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832607	NM_015178.3(RHOBTB2):c.80A>G (p.Lys27Arg)	RHOBTB2 (K34R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830627	NM_015178.3(RHOBTB2):c.573G>A (p.Val191=)	RHOBTB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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