ClinVar for Gene (Select 57465) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067725	NM_001199107.2(TBC1D24):c.523G>T (p.Ala175Ser)	TBC1D24 (A175S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067723	NM_001199107.2(TBC1D24):c.1414T>G (p.Ser472Ala)	TBC1D24 (S466A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062222	NM_001199107.2(TBC1D24):c.32A>G (p.Asp11Gly)	TBC1D24 (D11G)	Single nucleotide variant (missense variant)	Familial infantile myoclonic epilepsy	GUncertain significance
Select item 3061937	NM_001199107.2(TBC1D24):c.1525+1del	TBC1D24	Deletion (splice donor variant)	Auditory neuropathy spectrum disorder	GPathogenic
Select item 3032581	NM_001199107.2(TBC1D24):c.837G>A (p.Thr279=)	TBC1D24	Single nucleotide variant (synonymous variant)	TBC1D24-related condition	GLikely benign
Select item 2954131	NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)	TBC1D24 (H195Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2953832	NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)	TBC1D24 (A465S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2952998	NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)	TBC1D24 (V199A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2952157	NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)	TBC1D24 (V96M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2951956	NM_001199107.2(TBC1D24):c.1608G>A (p.Gln536=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2951440	NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)	TBC1D24 (P460A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2950792	NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)	TBC1D24 (G165C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2950612	NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)	TBC1D24 (Y517C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2950183	NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)	TBC1D24 (E462* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 2950023	NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)	TBC1D24 (P451S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2949808	NM_001199107.2(TBC1D24):c.1525+10A>G	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2949760	NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)	TBC1D24 (V323M)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2949593	NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)	TBC1D24 (S281Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2948979	NM_001199107.2(TBC1D24):c.1620C>G (p.Ser540=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2948527	NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)	TBC1D24 (Y6H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2948398	NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)	TBC1D24 (A113fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 2948198	NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)	TBC1D24 (Q430* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 2947819	NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2947223	NM_001199107.2(TBC1D24):c.965+15G>T	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2946966	NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)	TBC1D24 (S264N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2946591	NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)	TBC1D24 (L368V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2945744	NM_001199107.2(TBC1D24):c.954G>A (p.Val318=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2945566	NM_001199107.2(TBC1D24):c.538T>C (p.Cys180Arg)	TBC1D24 (C180R)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2945473	NM_001199107.2(TBC1D24):c.1642G>T (p.Val548Leu)	TBC1D24 (V542L +1 more)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2945095	NM_001199107.2(TBC1D24):c.285C>G (p.Phe95Leu)	TBC1D24 (F95L)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2944898	NM_001199107.2(TBC1D24):c.972A>G (p.Ser324=)	TBC1D24	Single nucleotide variant (synonymous variant +1 more)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 2944796	NM_001199107.2(TBC1D24):c.291C>T (p.Asp97=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 2944699	NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)	TBC1D24 (L240R)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2944586	NM_001199107.2(TBC1D24):c.430T>C (p.Tyr144His)	TBC1D24 (Y144H)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2943986	NM_001199107.2(TBC1D24):c.1454C>T (p.Ala485Val)	TBC1D24 (A479V +1 more)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2943158	NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)	TBC1D24 (C180*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 2943115	NM_001199107.2(TBC1D24):c.1525+6C>A	TBC1D24	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2942989	NM_001199107.2(TBC1D24):c.846T>C (p.Pro282=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 2942773	NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)	TBC1D24 (Y104fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 2942739	NM_001199107.2(TBC1D24):c.179G>C (p.Arg60Pro)	TBC1D24 (R60P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2942454	NM_001199107.2(TBC1D24):c.790A>G (p.Ser264Gly)	TBC1D24 (S264G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2942341	NM_001199107.2(TBC1D24):c.1207-19A>G	TBC1D24	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2941911	NM_001199107.2(TBC1D24):c.1644G>A (p.Val548=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 2941483	NM_001199107.2(TBC1D24):c.321T>C (p.Asn107=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2940253	NM_001199107.2(TBC1D24):c.1116C>A (p.Ser372=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2940163	NM_001199107.2(TBC1D24):c.229A>T (p.Ile77Phe)	TBC1D24 (I77F)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2940080	NM_001199107.2(TBC1D24):c.286G>C (p.Val96Leu)	TBC1D24 (V96L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2939600	NM_001199107.2(TBC1D24):c.348G>T (p.Lys116Asn)	TBC1D24 (K116N)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2939501	NM_001199107.2(TBC1D24):c.966-5T>C	TBC1D24	Single nucleotide variant (intron variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 2939296	NM_001199107.2(TBC1D24):c.1317G>A (p.Val439=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 2938575	NM_001199107.2(TBC1D24):c.1078del (p.Arg360fs)	TBC1D24 (R360fs +1 more)	Deletion (frameshift variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 2938487	NM_001199107.2(TBC1D24):c.1671C>T (p.Asp557=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 2938118	NM_001199107.2(TBC1D24):c.1538G>A (p.Gly513Asp)	TBC1D24 (G513D +1 more)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2937970	NM_001199107.2(TBC1D24):c.612T>C (p.Asp204=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 2937670	NM_001199107.2(TBC1D24):c.1116C>T (p.Ser372=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 2937297	NM_001199107.2(TBC1D24):c.1526G>A (p.Gly509Glu)	TBC1D24 (G503E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2937152	NM_001199107.2(TBC1D24):c.804C>T (p.Asp268=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2935976	NM_001199107.2(TBC1D24):c.1668T>C (p.Pro556=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2935792	NM_001199107.2(TBC1D24):c.1244G>A (p.Arg415Lys)	TBC1D24 (R409K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2935492	NM_001199107.2(TBC1D24):c.1342A>G (p.Lys448Glu)	TBC1D24 (K448E +1 more)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2934380	NM_001199107.2(TBC1D24):c.490C>T (p.Pro164Ser)	TBC1D24 (P164S)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2934166	NM_001199107.2(TBC1D24):c.1299T>A (p.Phe433Leu)	TBC1D24 (F433L +1 more)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2933726	NM_001199107.2(TBC1D24):c.299A>G (p.Gln100Arg)	TBC1D24 (Q100R)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2933065	NM_001199107.2(TBC1D24):c.1371C>G (p.Pro457=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2932768	NM_001199107.2(TBC1D24):c.1629C>T (p.Phe543=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2932704	NM_001199107.2(TBC1D24):c.303G>A (p.Val101=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2932540	NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)	TBC1D24 (R40P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2931965	NM_001199107.2(TBC1D24):c.57C>A (p.Ile19=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2931794	NM_001199107.2(TBC1D24):c.1074C>G (p.Pro358=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2930587	NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn)	TBC1D24 (D513N +1 more)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 2929712	NM_001199107.2(TBC1D24):c.1374G>A (p.Leu458=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 2929259	NM_001199107.2(TBC1D24):c.890G>T (p.Arg297Leu)	TBC1D24 (R297L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2927518	NM_001199107.2(TBC1D24):c.1228A>G (p.Thr410Ala)	TBC1D24 (T404A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2926652	NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys)	TBC1D24 (Y237C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2926592	NM_001199107.2(TBC1D24):c.1358C>T (p.Thr453Ile)	TBC1D24 (T453I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2925589	NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)	TBC1D24 (G422R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2924642	NM_001199107.2(TBC1D24):c.1180T>C (p.Leu394=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2924556	NM_001199107.2(TBC1D24):c.984-16T>C	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2924416	NM_001199107.2(TBC1D24):c.1188C>G (p.Ile396Met)	TBC1D24 (I390M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2924292	NM_001199107.2(TBC1D24):c.376C>T (p.Pro126Ser)	TBC1D24 (P126S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2923945	NM_001199107.2(TBC1D24):c.965+1G>T	TBC1D24	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely pathogenic
Select item 2923635	NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val)	TBC1D24 (I518V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2923444	NM_001199107.2(TBC1D24):c.1206+14C>T	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2922101	NM_001199107.2(TBC1D24):c.487G>T (p.Asp163Tyr)	TBC1D24 (D163Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2921854	NM_001199107.2(TBC1D24):c.624C>T (p.Val208=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2921741	NM_001199107.2(TBC1D24):c.1399C>T (p.Leu467Phe)	TBC1D24 (L467F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2685540	GRCh37/hg19 16p13.3(chr16:2480793-2590012)x1	AMDHD2, ATP6V0C +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2662698	NM_001199107.2(TBC1D24):c.1387C>T (p.Pro463Ser)	TBC1D24 (P457S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646063	NM_001199107.2(TBC1D24):c.1163G>T (p.Gly388Val)	TBC1D24 (G382V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630945	NM_001199107.2(TBC1D24):c.1302+1G>T	TBC1D24	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 1 +3 more	GLikely pathogenic
Select item 2605403	NM_001199107.2(TBC1D24):c.1510G>T (p.Asp504Tyr)	TBC1D24 (D504Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584794	NM_001199107.2(TBC1D24):c.571T>C (p.Cys191Arg)	TBC1D24 (C191R)	Single nucleotide variant (missense variant)	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +1 more	GUncertain significance
Select item 2574915	NM_001199107.2(TBC1D24):c.1600A>G (p.Asn534Asp)	TBC1D24 (N528D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571810	NM_001199107.2(TBC1D24):c.37G>A (p.Asp13Asn)	TBC1D24 (D13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545929	NM_001199107.2(TBC1D24):c.1577G>C (p.Arg526Pro)	TBC1D24 (R526P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541457	NM_001199107.2(TBC1D24):c.541A>G (p.Met181Val)	TBC1D24 (M181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507172	NM_001199107.2(TBC1D24):c.877C>T (p.Arg293Cys)	TBC1D24 (R293C)	Single nucleotide variant (missense variant)	TBC1D24-related condition +1 more	GUncertain significance
Select item 2505671	NM_001199107.2(TBC1D24):c.1540C>G (p.Gln514Glu)	TBC1D24 (Q508E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503271	NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)	TBC1D24 (D70E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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