ClinVar for Gene (Select 55703) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366844	NM_018082.6(POLR3B):c.207T>A (p.Ala69=)	POLR3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3365703	NM_018082.6(POLR3B):c.3314G>A (p.Arg1105His)	LOC100287944, POLR3B (R1047H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364411	NM_018082.6(POLR3B):c.549G>C (p.Gln183His)	POLR3B (Q125H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362063	NM_018082.6(POLR3B):c.1082G>A (p.Arg361Gln)	POLR3B (R303Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359643	NM_018082.6(POLR3B):c.2688A>T (p.Lys896Asn)	POLR3B (K838N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353508	NM_018082.6(POLR3B):c.*5G>A	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	POLR3B-related disorder	GLikely benign
Select item 3343287	NM_018082.6(POLR3B):c.836C>T (p.Thr279Ile)	POLR3B (T221I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342221	NM_018082.6(POLR3B):c.728T>C (p.Met243Thr)	POLR3B (M185T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342184	NM_018082.6(POLR3B):c.1700A>G (p.Tyr567Cys)	POLR3B (Y509C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339965	NM_018082.6(POLR3B):c.847-10T>G	POLR3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3339542	NM_018082.6(POLR3B):c.1995C>T (p.Leu665=)	POLR3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339538	NM_018082.6(POLR3B):c.1690A>G (p.Arg564Gly)	POLR3B (R506G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338505	NM_018082.6(POLR3B):c.2713+10949C>G	POLR3B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338027	NM_018082.6(POLR3B):c.847-2A>C	POLR3B	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GLikely pathogenic
Select item 3337488	NM_018082.6(POLR3B):c.3360G>A (p.Met1120Ile)	LOC100287944, POLR3B (M1062I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337487	NM_018082.6(POLR3B):c.847-2A>G	POLR3B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3336790	NM_018082.6(POLR3B):c.2644A>C (p.Lys882Gln)	POLR3B (K824Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GUncertain significance
Select item 3308824	NM_018082.6(POLR3B):c.258T>A (p.Asp86Glu)	POLR3B (D28E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308823	NM_018082.6(POLR3B):c.317A>G (p.Asp106Gly)	POLR3B (D48G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308822	NM_018082.6(POLR3B):c.905A>C (p.Lys302Thr)	POLR3B (K302T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308821	NM_018082.6(POLR3B):c.1310C>T (p.Thr437Ile)	POLR3B (T379I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3253524	NM_018082.6(POLR3B):c.2570+5G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3252369	NM_018082.6(POLR3B):c.53C>T (p.Ala18Val)	POLR3B (A18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244429	NC_000012.11:g.(?_106799615)_(106799774_?)del	POLR3B	Deletion	not provided	GLikely pathogenic
Select item 3233325	NM_018082.6(POLR3B):c.2817_2817+1delinsCT	POLR3B	Indel (splice donor variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GLikely pathogenic
Select item 3216571	NM_018082.6(POLR3B):c.686C>T (p.Thr229Ile)	POLR3B (T171I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216570	NM_018082.6(POLR3B):c.422G>A (p.Arg141His)	POLR3B (R141H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216568	NM_018082.6(POLR3B):c.233T>G (p.Leu78Arg)	POLR3B (L78R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216567	NM_018082.6(POLR3B):c.1342G>A (p.Ala448Thr)	POLR3B (A448T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068453	NM_018082.6(POLR3B):c.1757C>T (p.Ser586Phe)	POLR3B (S528F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GUncertain significance
Select item 3061733	NM_018082.6(POLR3B):c.2463A>G (p.Val821=)	POLR3B	Single nucleotide variant (synonymous variant)	POLR3B-related disorder	GLikely benign
Select item 3051566	NM_018082.6(POLR3B):c.2820G>T (p.Val940=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	POLR3B-related disorder	GLikely benign
Select item 3050877	NM_018082.6(POLR3B):c.1102-5_1102-3del	POLR3B	Deletion (intron variant)	POLR3B-related disorder	GLikely benign
Select item 3034949	NM_018082.6(POLR3B):c.1135A>G (p.Lys379Glu)	POLR3B (K321E +1 more)	Single nucleotide variant (missense variant)	POLR3B-related disorder	GUncertain significance
Select item 3033444	NM_018082.6(POLR3B):c.1857-21C>T	POLR3B	Single nucleotide variant (intron variant)	POLR3B-related disorder	GLikely benign
Select item 3016006	NM_018082.6(POLR3B):c.153T>C (p.Ile51=)	POLR3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3008717	NM_018082.6(POLR3B):c.1188A>G (p.Arg396=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007671	NM_018082.6(POLR3B):c.724-18C>G	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999590	NM_018082.6(POLR3B):c.1164C>T (p.Ala388=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993995	NM_018082.6(POLR3B):c.2351A>C (p.Asn784Thr)	POLR3B (N784T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992019	NM_018082.6(POLR3B):c.85C>T (p.Leu29=)	POLR3B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2970679	NM_018082.6(POLR3B):c.1341C>T (p.Ser447=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969537	NM_018082.6(POLR3B):c.228-19G>A	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967086	NM_018082.6(POLR3B):c.1628G>C (p.Gly543Ala)	POLR3B (G485A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957758	NM_018082.6(POLR3B):c.228-20C>T	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908043	NM_018082.6(POLR3B):c.3372C>T (p.Pro1124=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907744	NM_018082.6(POLR3B):c.731G>T (p.Gly244Val)	POLR3B (G186V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901787	NM_018082.6(POLR3B):c.210C>T (p.Asp70=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901175	NM_018082.6(POLR3B):c.454C>G (p.Pro152Ala)	POLR3B (P94A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896952	NM_018082.6(POLR3B):c.45G>C (p.Gln15His)	POLR3B (Q15H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894494	NM_018082.6(POLR3B):c.2984+10C>T	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891078	NM_018082.6(POLR3B):c.2531A>G (p.Asn844Ser)	POLR3B (N786S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889045	NM_018082.6(POLR3B):c.1024G>A (p.Val342Ile)	POLR3B (V342I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889028	NM_018082.6(POLR3B):c.2963A>G (p.Tyr988Cys)	LOC100287944, POLR3B (Y930C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864597	NM_018082.6(POLR3B):c.2143C>A (p.Pro715Thr)	POLR3B (P715T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845824	NM_018082.6(POLR3B):c.2069G>A (p.Gly690Glu)	POLR3B (G632E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818321	NM_018082.6(POLR3B):c.497G>A (p.Gly166Asp)	POLR3B (G166D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815592	NM_018082.6(POLR3B):c.1550A>G (p.Asn517Ser)	POLR3B (N517S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780150	NM_018082.6(POLR3B):c.2949C>T (p.Tyr983=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778666	NM_018082.6(POLR3B):c.2904del (p.Lys968_Val969insTer)	LOC100287944, POLR3B	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2763128	NM_018082.6(POLR3B):c.2672C>G (p.Pro891Arg)	POLR3B (P833R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743260	NM_018082.6(POLR3B):c.2405C>G (p.Pro802Arg)	POLR3B (P802R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740188	NM_018082.6(POLR3B):c.2713+7T>C	POLR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712197	NM_018082.6(POLR3B):c.324A>G (p.Thr108=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689807	NM_018082.6(POLR3B):c.2579G>T (p.Gly860Val)	POLR3B (G802V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662581	NM_018082.6(POLR3B):c.833dup (p.Thr279fs)	POLR3B (T221fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2643260	NM_018082.6(POLR3B):c.2005G>C (p.Ala669Pro)	POLR3B (A611P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637961	NM_018082.6(POLR3B):c.2974G>A (p.Gly992Ser)	LOC100287944, POLR3B (G934S +1 more)	Single nucleotide variant (missense variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 2634611	NM_018082.6(POLR3B):c.1076A>C (p.Asn359Thr)	POLR3B (N301T +1 more)	Single nucleotide variant (missense variant)	POLR3B-related disorder	GUncertain significance
Select item 2626869	NM_018082.6(POLR3B):c.2511del (p.Ile838fs)	POLR3B (I780fs +1 more)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GPathogenic
Select item 2611333	NM_018082.6(POLR3B):c.2482G>A (p.Val828Ile)	POLR3B (V828I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609055	NM_018082.6(POLR3B):c.715A>C (p.Ile239Leu)	POLR3B (I181L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580914	NM_018082.6(POLR3B):c.1028T>C (p.Ile343Thr)	POLR3B (I285T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
Select item 2580913	NM_018082.6(POLR3B):c.1464+1G>T	POLR3B	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
Select item 2579591	NM_018082.6(POLR3B):c.2605G>A (p.Val869Met)	POLR3B (V811M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578697	GRCh37/hg19 12q23.3(chr12:106460580-107090224)x1	CKAP4, NUAK1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2576939	NM_018082.6(POLR3B):c.1123G>T (p.Asp375Tyr)	POLR3B (D317Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2575975	NM_018082.6(POLR3B):c.1304G>T (p.Gly435Val)	POLR3B (G377V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2575687	NM_018082.6(POLR3B):c.1230G>C (p.Gln410His)	POLR3B (Q352H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574974	NM_018082.6(POLR3B):c.711CAT[1] (p.Ile239del)	POLR3B (I181del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2573690	NM_018082.6(POLR3B):c.1127T>C (p.Leu376Ser)	POLR3B (L318S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572830	NM_018082.6(POLR3B):c.23T>C (p.Phe8Ser)	POLR3B (F8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571977	NM_018082.6(POLR3B):c.1765G>A (p.Gly589Arg)	POLR3B (G531R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2530889	NM_018082.6(POLR3B):c.2308C>G (p.Leu770Val)	POLR3B (L770V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513132	NM_018082.6(POLR3B):c.3397G>A (p.Glu1133Lys)	LOC100287944, POLR3B (E1075K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506688	NM_018082.6(POLR3B):c.538A>T (p.Ile180Phe)	POLR3B (I122F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501970	NM_018082.6(POLR3B):c.955A>G (p.Thr319Ala)	POLR3B (T261A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500938	NM_018082.6(POLR3B):c.1627+7A>G	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 2500487	NM_018082.6(POLR3B):c.2530A>C (p.Asn844His)	POLR3B (N786H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500373	NM_018082.6(POLR3B):c.2823del (p.Lys942fs)	LOC100287944, POLR3B (K884fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2500202	NM_018082.6(POLR3B):c.206C>G (p.Ala69Gly)	POLR3B (A11G +1 more)	Single nucleotide variant (missense variant)	POLR3B-related disorder	GUncertain significance
Select item 2497957	NM_018082.6(POLR3B):c.1255A>C (p.Ile419Leu)	POLR3B (I361L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483840	NM_018082.6(POLR3B):c.2900G>C (p.Ser967Thr)	LOC100287944, POLR3B (S909T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473245	NM_018082.6(POLR3B):c.488T>C (p.Leu163Ser)	POLR3B (L105S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455877	NM_018082.6(POLR3B):c.1809G>T (p.Lys603Asn)	POLR3B (K603N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446612	NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)	POLR3B (R164* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GPathogenic/Likely pathogenic
Select item 2432826	NM_018082.6(POLR3B):c.3272+1G>T	LOC100287944, POLR3B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2430938	NM_018082.6(POLR3B):c.3310C>G (p.Leu1104Val)	LOC100287944, POLR3B (L1046V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430558	NM_018082.6(POLR3B):c.3371C>T (p.Pro1124Leu)	LOC100287944, POLR3B (P1066L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429574	NM_018082.6(POLR3B):c.1370C>A (p.Ser457Tyr)	POLR3B (S399Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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