ClinVar for Gene (Select 84172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367578	NM_019014.6(POLR1B):c.404G>C (p.Gly135Ala)	POLR1B (G135A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3367455	NM_019014.6(POLR1B):c.987-3C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3366044	NM_019014.6(POLR1B):c.2039A>G (p.Asn680Ser)	POLR1B (N469S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347788	NM_019014.6(POLR1B):c.1360T>A (p.Cys454Ser)	POLR1B (C243S +4 more)	Single nucleotide variant (missense variant +1 more)	POLR1B-related disorder	GUncertain significance
Select item 3344482	NM_019014.6(POLR1B):c.2063A>G (p.Gln688Arg)	POLR1B (Q477R +6 more)	Single nucleotide variant (missense variant)	POLR1B-related disorder	GLikely pathogenic
Select item 3308770	NM_019014.6(POLR1B):c.1933G>A (p.Ala645Thr)	POLR1B (A589T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308769	NM_019014.6(POLR1B):c.938A>G (p.Asn313Ser)	POLR1B (N102S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308767	NM_019014.6(POLR1B):c.664G>A (p.Val222Ile)	POLR1B (V222I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308766	NM_019014.6(POLR1B):c.487G>A (p.Ala163Thr)	POLR1B (A107T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3250396	NM_019014.6(POLR1B):c.490G>T (p.Glu164Ter)	POLR1B (E108* +3 more)	Single nucleotide variant (nonsense +2 more)	Treacher Collins syndrome 4	GLikely pathogenic
Select item 3216451	NM_019014.6(POLR1B):c.878G>T (p.Gly293Val)	POLR1B (G154V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216450	NM_019014.6(POLR1B):c.431A>C (p.Lys144Thr)	POLR1B (K144T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216449	NM_019014.6(POLR1B):c.3059G>C (p.Arg1020Thr)	POLR1B (R1020T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216448	NM_019014.6(POLR1B):c.280A>C (p.Lys94Gln)	POLR1B (K94Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216447	NM_019014.6(POLR1B):c.2611A>G (p.Met871Val)	POLR1B (M688V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216446	NM_019014.6(POLR1B):c.2404C>T (p.Arg802Cys)	POLR1B (R591C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216445	NM_019014.6(POLR1B):c.1583C>T (p.Ala528Val)	POLR1B (A389V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216444	NM_019014.6(POLR1B):c.1571T>G (p.Phe524Cys)	POLR1B (F313C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216443	NM_019014.6(POLR1B):c.1443G>A (p.Met481Ile)	POLR1B (M342I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216442	NM_019014.6(POLR1B):c.1429G>A (p.Asp477Asn)	POLR1B (D338N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216441	NM_019014.6(POLR1B):c.1049C>T (p.Thr350Met)	POLR1B (T350M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3052254	NM_019014.6(POLR1B):c.1636C>T (p.Pro546Ser)	POLR1B (P335S +4 more)	Single nucleotide variant (missense variant +1 more)	POLR1B-related disorder	GLikely benign
Select item 3048973	NM_019014.6(POLR1B):c.3191G>A (p.Arg1064Gln)	POLR1B (R1008Q +6 more)	Single nucleotide variant (missense variant)	POLR1B-related disorder	GLikely benign
Select item 3031450	NM_001282772.2(POLR1B):c.36G>A (p.Arg12=)	LOC129934585, POLR1B	Single nucleotide variant (synonymous variant)	POLR1B-related disorder	GLikely benign
Select item 2651281	NM_019014.6(POLR1B):c.2688G>A (p.Leu896=)	POLR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2651280	NM_019014.6(POLR1B):c.2600T>C (p.Val867Ala)	POLR1B (V656A +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2651279	NM_019014.6(POLR1B):c.148G>A (p.Val50Met)	POLR1B (V50M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2630120	NM_019014.6(POLR1B):c.3052C>T (p.Arg1018Ter)	POLR1B (R1018* +6 more)	Single nucleotide variant (nonsense)	POLR1B-related disorder	GUncertain significance
Select item 2617241	NM_019014.6(POLR1B):c.1883T>C (p.Leu628Ser)	POLR1B (L417S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593079	NM_019014.6(POLR1B):c.578T>C (p.Met193Thr)	POLR1B (M54T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589999	NM_019014.6(POLR1B):c.2407G>A (p.Val803Ile)	POLR1B (V841I +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2565349	NM_019014.6(POLR1B):c.1414G>C (p.Val472Leu)	POLR1B (V333L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556535	NM_019014.6(POLR1B):c.1549G>A (p.Val517Ile)	POLR1B (V378I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2550459	NM_019014.6(POLR1B):c.2609C>T (p.Thr870Ile)	POLR1B (T687I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538265	NM_019014.6(POLR1B):c.2365G>T (p.Asp789Tyr)	POLR1B (D733Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538227	NM_019014.6(POLR1B):c.2550T>A (p.Asp850Glu)	POLR1B (D711E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507446	NM_019014.6(POLR1B):c.634A>G (p.Met212Val)	POLR1B (M156V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504300	NM_019014.6(POLR1B):c.2903C>G (p.Ala968Gly)	POLR1B (A1006G +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2497901	NM_001282772.2(POLR1B):c.75_99del (p.Tyr27fs)	LOC129934585, POLR1B (Y27fs)	Microsatellite (frameshift variant)	not provided	GBenign
Select item 2491344	NM_019014.6(POLR1B):c.1253G>A (p.Arg418Lys)	POLR1B (R456K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2483213	NM_019014.6(POLR1B):c.458C>A (p.Pro153Gln)	POLR1B (P153Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481662	NM_019014.6(POLR1B):c.2524A>G (p.Lys842Glu)	POLR1B (K842E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474821	NM_019014.6(POLR1B):c.1981C>T (p.Leu661Phe)	POLR1B (L699F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458545	NM_019014.6(POLR1B):c.1891G>A (p.Glu631Lys)	POLR1B (E631K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444163	NM_019014.6(POLR1B):c.1496C>T (p.Pro499Leu)	POLR1B (P288L +4 more)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 4	GUncertain significance
Select item 2431488	NM_019014.6(POLR1B):c.56T>C (p.Leu19Ser)	POLR1B (L19S +1 more)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 4	GUncertain significance
Select item 2401818	NM_019014.6(POLR1B):c.1478C>T (p.Ser493Phe)	POLR1B (S282F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2398073	NM_019014.6(POLR1B):c.2017T>A (p.Phe673Ile)	POLR1B (F462I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380032	NM_019014.6(POLR1B):c.869T>C (p.Met290Thr)	POLR1B (M290T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376189	NM_019014.6(POLR1B):c.770T>C (p.Val257Ala)	POLR1B (V118A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367935	NM_019014.6(POLR1B):c.3274C>T (p.Arg1092Cys)	POLR1B (R953C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359304	NM_019014.6(POLR1B):c.2893A>G (p.Met965Val)	POLR1B (M782V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352265	NM_019014.6(POLR1B):c.1603T>G (p.Cys535Gly)	POLR1B (C535G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349351	NM_019014.6(POLR1B):c.2548G>T (p.Asp850Tyr)	POLR1B (D794Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342370	NM_019014.6(POLR1B):c.3398A>G (p.Asp1133Gly)	POLR1B (D1077G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310504	NM_019014.6(POLR1B):c.1706A>C (p.Asp569Ala)	POLR1B (D513A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304402	NM_019014.6(POLR1B):c.301G>A (p.Ala101Thr)	POLR1B (A101T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288646	NM_019014.6(POLR1B):c.1010A>T (p.Lys337Ile)	POLR1B (K198I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282521	NM_019014.6(POLR1B):c.2540G>A (p.Cys847Tyr)	POLR1B (C885Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265826	NM_019014.6(POLR1B):c.2164G>C (p.Val722Leu)	POLR1B (V768L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264099	NM_019014.6(POLR1B):c.772A>G (p.Ser258Gly)	POLR1B (S119G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251647	NM_019014.6(POLR1B):c.861G>T (p.Arg287Ser)	POLR1B (R148S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249197	NM_019014.6(POLR1B):c.1701T>A (p.Asp567Glu)	POLR1B (D511E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235719	NM_019014.6(POLR1B):c.2880A>T (p.Glu960Asp)	POLR1B (E749D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221706	NM_019014.6(POLR1B):c.215G>T (p.Arg72Leu)	POLR1B (R110L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205190	NM_019014.6(POLR1B):c.789G>C (p.Gln263His)	POLR1B (Q207H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2104897	NM_019014.6(POLR1B):c.843del (p.Val282fs)	POLR1B (V143fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1997614	NM_019014.6(POLR1B):c.704T>C (p.Met235Thr)	POLR1B (M96T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806005	NM_019014.6(POLR1B):c.1231A>G (p.Met411Val)	POLR1B (M200V +4 more)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 4	GUncertain significance
Select item 1705674	NM_019014.6(POLR1B):c.2055C>A (p.Asn685Lys)	POLR1B (N474K +6 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 4	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1683365	NM_019014.6(POLR1B):c.1976A>G (p.Gln659Arg)	POLR1B (Q448R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341214	GRCh37/hg19 2q13(chr2:113295194-114085649)x3	CHCHD5, CKAP2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1289864	NM_019014.6(POLR1B):c.2526-153C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286831	NM_019014.6(POLR1B):c.2526-183G>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285661	NM_019014.6(POLR1B):c.1613-32G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283765	NM_019014.6(POLR1B):c.*104C>T	POLR1B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1282418	NM_019014.6(POLR1B):c.2526-105_2526-102del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1279157	NM_019014.6(POLR1B):c.2526-102del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1279123	NM_019014.6(POLR1B):c.1612+202G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272934	NM_019014.6(POLR1B):c.625+117del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1272588	NM_019014.6(POLR1B):c.1918-42C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270777	NM_019014.6(POLR1B):c.762+43C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270536	NM_019014.6(POLR1B):c.1746+204A>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268107	NM_019014.6(POLR1B):c.2074+23C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267427	NM_019014.6(POLR1B):c.177+146A>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261814	NM_019014.6(POLR1B):c.177+35C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261808	NM_019014.6(POLR1B):c.762+216C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261231	NM_019014.6(POLR1B):c.492+8C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260159	NM_019014.6(POLR1B):c.626-25A>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260138	NM_019014.6(POLR1B):c.884C>T (p.Ser295Leu)	POLR1B (S156L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1258590	NM_019014.6(POLR1B):c.625+139C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257077	NM_019014.6(POLR1B):c.1158+150G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257076	NM_019014.6(POLR1B):c.492+214G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253235	NM_019014.6(POLR1B):c.987-13del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1252565	NM_019014.6(POLR1B):c.1882T>C (p.Leu628=)	POLR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign

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