ClinVar for Gene (Select 25885) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369830	NM_015425.6(POLR1A):c.1082_1085delinsT (p.Asp361_Glu362delinsVal)	POLR1A	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3366300	NM_015425.6(POLR1A):c.646C>T (p.Arg216Ter)	POLR1A (R216*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3364286	NM_015425.6(POLR1A):c.3772A>T (p.Asn1258Tyr)	LOC106783498, POLR1A (N1258Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3308765	NM_015425.6(POLR1A):c.4517G>A (p.Arg1506His)	POLR1A (R1506H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308764	NM_015425.6(POLR1A):c.409G>A (p.Glu137Lys)	POLR1A (E137K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308763	NM_015425.6(POLR1A):c.1108A>G (p.Ile370Val)	POLR1A (I370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308762	NM_015425.6(POLR1A):c.4654G>C (p.Val1552Leu)	POLR1A (V1552L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257432	NM_015425.6(POLR1A):c.4838G>A (p.Gly1613Asp)	POLR1A (G1613D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255114	NM_015425.6(POLR1A):c.818G>T (p.Gly273Val)	POLR1A (G273V)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 3254637	NM_015425.6(POLR1A):c.965A>G (p.Asn322Ser)	POLR1A (N322S)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 3216440	NM_015425.6(POLR1A):c.857A>G (p.Asp286Gly)	POLR1A (D286G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216439	NM_015425.6(POLR1A):c.4987C>T (p.Arg1663Trp)	POLR1A (R1663W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216438	NM_015425.6(POLR1A):c.4957G>A (p.Val1653Ile)	POLR1A (V1653I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216437	NM_015425.6(POLR1A):c.4798C>T (p.Leu1600Phe)	POLR1A (L1600F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216436	NM_015425.6(POLR1A):c.4717G>A (p.Glu1573Lys)	POLR1A (E1573K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216434	NM_015425.6(POLR1A):c.4024A>G (p.Met1342Val)	POLR1A (M1342V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216433	NM_015425.6(POLR1A):c.391G>A (p.Ala131Thr)	POLR1A (A131T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216432	NM_015425.6(POLR1A):c.3631G>C (p.Val1211Leu)	POLR1A (V1211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216431	NM_015425.6(POLR1A):c.3360G>A (p.Met1120Ile)	POLR1A (M1120I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216430	NM_015425.6(POLR1A):c.2534A>G (p.Lys845Arg)	POLR1A (K845R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216429	NM_015425.6(POLR1A):c.2395G>A (p.Val799Met)	POLR1A (V799M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216427	NM_015425.6(POLR1A):c.2206C>G (p.Gln736Glu)	POLR1A (Q736E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216426	NM_015425.6(POLR1A):c.2002G>C (p.Val668Leu)	POLR1A (V668L)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type +1 more	GUncertain significance
Select item 3216425	NM_015425.6(POLR1A):c.1562A>G (p.Gln521Arg)	POLR1A (Q521R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216424	NM_015425.6(POLR1A):c.1361A>C (p.Asn454Thr)	POLR1A (N454T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216423	NM_015425.6(POLR1A):c.1136C>T (p.Pro379Leu)	POLR1A (P379L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216422	NM_015425.6(POLR1A):c.1135C>A (p.Pro379Thr)	POLR1A (P379T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054505	NM_015425.6(POLR1A):c.3810C>T (p.Asn1270=)	POLR1A, LOC106783498	Single nucleotide variant (synonymous variant)	POLR1A-related disorder	GLikely benign
Select item 3023313	NM_015425.6(POLR1A):c.3805C>T (p.Leu1269Phe)	LOC106783498, POLR1A (L1269F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022942	NM_015425.6(POLR1A):c.2872G>A (p.Gly958Ser)	LOC126806263, POLR1A (G958S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021218	NM_015425.6(POLR1A):c.4795C>T (p.Arg1599Cys)	POLR1A (R1599C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019418	NM_015425.6(POLR1A):c.4320C>T (p.Asn1440=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017635	NM_015425.6(POLR1A):c.3711C>A (p.Gly1237=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016286	NM_015425.6(POLR1A):c.4819G>T (p.Ala1607Ser)	POLR1A (A1607S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015332	NM_015425.6(POLR1A):c.2256G>A (p.Ala752=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014995	NM_015425.6(POLR1A):c.3138G>T (p.Val1046=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011901	NM_015425.6(POLR1A):c.3399G>A (p.Arg1133=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011501	NM_015425.6(POLR1A):c.2238C>T (p.Cys746=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011121	NM_015425.6(POLR1A):c.3796G>A (p.Val1266Met)	LOC106783498, POLR1A (V1266M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010473	NM_015425.6(POLR1A):c.4578+20C>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009731	NM_015425.6(POLR1A):c.2969+16C>T	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009095	NM_015425.6(POLR1A):c.974C>T (p.Thr325Met)	POLR1A (T325M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007332	NM_015425.6(POLR1A):c.341G>A (p.Arg114Gln)	POLR1A (R114Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006278	NM_015425.6(POLR1A):c.2359G>A (p.Ala787Thr)	POLR1A (A787T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005360	NM_015425.6(POLR1A):c.2322C>T (p.Ser774=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004389	NM_015425.6(POLR1A):c.4896T>C (p.Tyr1632=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3003914	NM_015425.6(POLR1A):c.2656C>T (p.His886Tyr)	POLR1A (H886Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003671	NM_015425.6(POLR1A):c.4646A>C (p.His1549Pro)	POLR1A (H1549P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003072	NM_015425.6(POLR1A):c.4299G>A (p.Glu1433=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999063	NM_015425.6(POLR1A):c.5076G>C (p.Glu1692Asp)	POLR1A (E1692D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997896	NM_015425.6(POLR1A):c.540+14G>C	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996408	NM_015425.6(POLR1A):c.2879A>G (p.Lys960Arg)	LOC126806263, POLR1A (K960R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996201	NM_015425.6(POLR1A):c.1544G>A (p.Arg515Gln)	POLR1A (R515Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991806	NM_015425.6(POLR1A):c.4324G>A (p.Asp1442Asn)	POLR1A (D1442N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990097	NM_015425.6(POLR1A):c.2313C>T (p.Gly771=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989179	NM_015425.6(POLR1A):c.4478A>G (p.Gln1493Arg)	POLR1A (Q1493R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987858	NM_015425.6(POLR1A):c.2507C>A (p.Ala836Asp)	POLR1A (A836D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987834	NM_015425.6(POLR1A):c.4161+17G>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987429	NM_015425.6(POLR1A):c.4653C>T (p.Ala1551=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987338	NM_015425.6(POLR1A):c.2164C>A (p.Arg722=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987134	NM_015425.6(POLR1A):c.1381-9C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986979	NM_015425.6(POLR1A):c.3132C>T (p.Tyr1044=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985522	NM_015425.6(POLR1A):c.5062+14C>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984356	NM_015425.6(POLR1A):c.765C>T (p.Tyr255=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983440	NM_015425.6(POLR1A):c.694C>T (p.His232Tyr)	POLR1A (H232Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982085	NM_015425.6(POLR1A):c.2970-16G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981709	NM_015425.6(POLR1A):c.2586T>G (p.Asp862Glu)	POLR1A (D862E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981579	NM_015425.6(POLR1A):c.4015C>T (p.Leu1339=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981155	NM_015425.6(POLR1A):c.4793G>A (p.Arg1598His)	POLR1A (R1598H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980931	NM_015425.6(POLR1A):c.1410G>C (p.Gln470His)	POLR1A (Q470H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2980925	NM_015425.6(POLR1A):c.4551C>T (p.Tyr1517=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980000	NM_015425.6(POLR1A):c.5001C>G (p.Ser1667=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979909	NM_015425.6(POLR1A):c.541-11T>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979417	NM_015425.6(POLR1A):c.3740+11C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978901	NM_015425.6(POLR1A):c.1380+2T>G	POLR1A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2978769	NM_015425.6(POLR1A):c.1866+7C>G	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976433	NM_015425.6(POLR1A):c.3767G>C (p.Ser1256Thr)	LOC106783498, POLR1A (S1256T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976392	NM_015425.6(POLR1A):c.2669C>T (p.Pro890Leu)	POLR1A (P890L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975369	NM_015425.6(POLR1A):c.4006G>A (p.Glu1336Lys)	POLR1A (E1336K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974614	NM_015425.6(POLR1A):c.3342C>G (p.Ser1114Arg)	POLR1A (S1114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974109	NM_015425.6(POLR1A):c.495A>G (p.Thr165=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973392	NM_015425.6(POLR1A):c.3000C>T (p.Val1000=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973150	NM_015425.6(POLR1A):c.3573-12C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970794	NM_015425.6(POLR1A):c.2058+19C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970755	NM_015425.6(POLR1A):c.2392+16G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970569	NM_015425.6(POLR1A):c.3084G>A (p.Lys1028=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970377	NM_015425.6(POLR1A):c.4326T>C (p.Asp1442=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969833	NM_015425.6(POLR1A):c.472C>T (p.Arg158Trp)	POLR1A (R158W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969721	NM_015425.6(POLR1A):c.3522G>T (p.Trp1174Cys)	POLR1A (W1174C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969435	NM_015425.6(POLR1A):c.1612-12C>T	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969084	NM_015425.6(POLR1A):c.665A>G (p.Lys222Arg)	POLR1A (K222R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967365	NM_015425.6(POLR1A):c.432+15G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967338	NM_015425.6(POLR1A):c.52G>C (p.Gly18Arg)	LOC129934243, POLR1A (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965351	NM_015425.6(POLR1A):c.1192G>A (p.Val398Ile)	POLR1A (V398I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964726	NM_015425.6(POLR1A):c.924-17C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963842	NM_015425.6(POLR1A):c.2969+17G>A	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958957	NM_015425.6(POLR1A):c.1546G>A (p.Glu516Lys)	POLR1A (E516K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958951	NM_015425.6(POLR1A):c.4161+19G>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958602	NM_015425.6(POLR1A):c.4536A>G (p.Ile1512Met)	POLR1A (I1512M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958465	NM_015425.6(POLR1A):c.4344A>G (p.Glu1448=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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