Related gene-specific medical variations for Gene (Select 11128) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360640	NM_007055.4(POLR3A):c.3850A>G (p.Arg1284Gly)	POLR3A (R1284G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238764	NM_007055.4(POLR3A):c.3893G>T (p.Gly1298Val)	POLR3A (G1298V)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 3065710	NM_007055.4(POLR3A):c.1895G>T (p.Cys632Phe)	POLR3A (C632F)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 3062284	NM_007055.4(POLR3A):c.2616+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GLikely pathogenic
Select item 3052098	NM_007055.4(POLR3A):c.275G>A (p.Cys92Tyr)	LOC126860971, POLR3A (C92Y)	Single nucleotide variant (missense variant)	POLR3A-related disorder	GUncertain significance
Select item 3029226	NM_007055.4(POLR3A):c.399C>T (p.Gly133=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	POLR3A-related disorder	GLikely benign
Select item 3008745	NM_007055.4(POLR3A):c.3312A>G (p.Arg1104=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999683	NM_007055.4(POLR3A):c.480C>T (p.Gly160=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917712	NM_007055.4(POLR3A):c.490+8G>C	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908275	NM_007055.4(POLR3A):c.462C>T (p.Asn154=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900624	NM_007055.4(POLR3A):c.300A>G (p.Ala100=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887494	NM_007055.4(POLR3A):c.252G>A (p.Gly84=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877224	NM_007055.4(POLR3A):c.3249A>G (p.Pro1083=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876887	NM_007055.4(POLR3A):c.3291T>C (p.Tyr1097=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827602	NM_007055.4(POLR3A):c.3228T>A (p.Ala1076=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824146	NM_007055.4(POLR3A):c.3243-17C>G	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823287	NM_007055.4(POLR3A):c.3315T>C (p.Ile1105=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815451	NM_007055.4(POLR3A):c.285A>G (p.Val95=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809059	NM_007055.4(POLR3A):c.414G>A (p.Gln138=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794302	NM_007055.4(POLR3A):c.3336+1G>A	LOC126860970, POLR3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2792992	NM_007055.4(POLR3A):c.3242+1G>C	LOC126860970, POLR3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2783320	NM_007055.4(POLR3A):c.3336+8_3336+10del	LOC126860970, POLR3A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2766412	NM_007055.4(POLR3A):c.411T>G (p.Leu137=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640627	NM_007055.4(POLR3A):c.258C>T (p.Ile86=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640626	NM_007055.4(POLR3A):c.296G>T (p.Arg99Ile)	LOC126860971, POLR3A (R99I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640625	NM_007055.4(POLR3A):c.421G>A (p.Gly141Arg)	LOC126860971, POLR3A (G141R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500201	NM_007055.4(POLR3A):c.251G>A (p.Gly84Glu)	LOC126860971, POLR3A (G84E)	Single nucleotide variant (missense variant)	POLR3A-related disorder	GLikely pathogenic
Select item 2435163	NM_007055.4(POLR3A):c.645G>A (p.Gln215=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2435162	NM_007055.4(POLR3A):c.1109C>T (p.Ser370Leu)	POLR3A (S370L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435161	NM_007055.4(POLR3A):c.2055G>C (p.Arg685Ser)	POLR3A (R685S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435160	NM_007055.4(POLR3A):c.2901+274T>C	POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2435159	NM_007055.4(POLR3A):c.2360-6C>T	POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2427809	NM_007055.4(POLR3A):c.3284C>T (p.Ala1095Val)	LOC126860970, POLR3A (A1095V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2309014	NM_007055.4(POLR3A):c.407A>T (p.Tyr136Phe)	LOC126860971, POLR3A (Y136F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308871	NM_007055.4(POLR3A):c.367A>C (p.Lys123Gln)	LOC126860971, POLR3A (K123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187253	NM_007055.4(POLR3A):c.451C>T (p.Arg151Trp)	LOC126860971, POLR3A (R151W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2151264	NM_007055.4(POLR3A):c.419G>A (p.Arg140Gln)	LOC126860971, POLR3A (R140Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136898	NM_007055.4(POLR3A):c.346A>G (p.Met116Val)	LOC126860971, POLR3A (M116V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2130358	NM_007055.4(POLR3A):c.383A>G (p.Tyr128Cys)	LOC126860971, POLR3A (Y128C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126528	NM_007055.4(POLR3A):c.258C>A (p.Ile86=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116450	NM_007055.4(POLR3A):c.386T>A (p.Leu129Gln)	LOC126860971, POLR3A (L129Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104806	NM_007055.4(POLR3A):c.181-14G>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2079635	NM_007055.4(POLR3A):c.181-6T>C	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018301	NM_007055.4(POLR3A):c.318+3A>G	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1993165	NM_007055.4(POLR3A):c.3242+16T>C	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988709	NM_007055.4(POLR3A):c.3336+17A>G	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969375	NM_007055.4(POLR3A):c.219G>A (p.Gly73=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913399	NM_007055.4(POLR3A):c.318+16C>T	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898570	NM_007055.4(POLR3A):c.181-16G>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897633	NM_007055.4(POLR3A):c.398G>T (p.Gly133Val)	LOC126860971, POLR3A (G133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691619	NM_007055.4(POLR3A):c.319-196_319-195del	LOC126860971, POLR3A	Deletion (intron variant)	not provided	GLikely benign
Select item 1664926	NM_007055.4(POLR3A):c.318+15G>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662770	NM_007055.4(POLR3A):c.384T>C (p.Tyr128=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647055	NM_007055.4(POLR3A):c.3303G>A (p.Val1101=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629609	NM_007055.4(POLR3A):c.490+16A>G	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625743	NM_007055.4(POLR3A):c.275G>C (p.Cys92Ser)	LOC126860971, POLR3A (C92S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1625665	NM_007055.4(POLR3A):c.3318G>A (p.Glu1106=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617720	NM_007055.4(POLR3A):c.490+12G>T	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587238	NM_007055.4(POLR3A):c.3282C>T (p.Asp1094=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582864	NM_007055.4(POLR3A):c.3192C>T (p.Thr1064=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574687	NM_007055.4(POLR3A):c.181-8T>C	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573935	NM_007055.4(POLR3A):c.318+13G>T	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570851	NM_007055.4(POLR3A):c.3285G>A (p.Ala1095=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561351	NM_007055.4(POLR3A):c.396C>G (p.Pro132=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552264	NM_007055.4(POLR3A):c.3255C>A (p.Ile1085=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522759	NM_007055.4(POLR3A):c.3221T>C (p.Ile1074Thr)	LOC126860970, POLR3A (I1074T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1517733	NM_007055.4(POLR3A):c.342C>A (p.His114Gln)	LOC126860971, POLR3A (H114Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501676	NM_007055.4(POLR3A):c.3247C>G (p.Pro1083Ala)	LOC126860970, POLR3A (P1083A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498033	NM_007055.4(POLR3A):c.318+5G>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1467994	NM_007055.4(POLR3A):c.271C>T (p.Pro91Ser)	LOC126860971, POLR3A (P91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450513	NM_007055.4(POLR3A):c.3234G>A (p.Lys1078=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449594	NM_007055.4(POLR3A):c.259G>A (p.Asp87Asn)	LOC126860971, POLR3A (D87N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446880	NM_007055.4(POLR3A):c.397G>A (p.Gly133Ser)	LOC126860971, POLR3A (G133S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1437386	NM_007055.4(POLR3A):c.452G>A (p.Arg151Gln)	LOC126860971, POLR3A (R151Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1431129	NM_007055.4(POLR3A):c.3190del (p.Thr1064fs)	LOC126860970, POLR3A (T1064fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1428573	NM_007055.4(POLR3A):c.3269A>G (p.Asp1090Gly)	LOC126860970, POLR3A (D1090G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419408	NM_007055.4(POLR3A):c.295A>G (p.Arg99Gly)	LOC126860971, POLR3A (R99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413017	NM_007055.4(POLR3A):c.340C>T (p.His114Tyr)	LOC126860971, POLR3A (H114Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408117	NM_007055.4(POLR3A):c.234C>A (p.Asp78Glu)	LOC126860971, POLR3A (D78E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405154	NM_007055.4(POLR3A):c.229G>T (p.Ala77Ser)	LOC126860971, POLR3A (A77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1399984	NM_007055.4(POLR3A):c.476G>A (p.Cys159Tyr)	POLR3A, LOC126860971 (C159Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393350	NM_007055.4(POLR3A):c.3198C>T (p.Gly1066=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382598	NM_007055.4(POLR3A):c.232G>A (p.Asp78Asn)	LOC126860971, POLR3A (D78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381131	NM_007055.4(POLR3A):c.185C>T (p.Thr62Met)	LOC126860971, POLR3A (T62M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352466	NM_007055.4(POLR3A):c.310A>G (p.Ile104Val)	LOC126860971, POLR3A (I104V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341659	NM_007055.4(POLR3A):c.3242+64C>T	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1324950	NM_007055.4(POLR3A):c.1573-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1323485	NM_007055.4(POLR3A):c.1229dup (p.Asn410fs)	POLR3A (N410fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1319814	NM_007055.4(POLR3A):c.1907C>T (p.Ser636Phe)	POLR3A (S636F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310117	NM_007055.4(POLR3A):c.3206G>T (p.Arg1069Leu)	LOC126860970, POLR3A (R1069L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304562	NM_007055.4(POLR3A):c.200G>A (p.Arg67His)	LOC126860971, POLR3A (R67H)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GUncertain significance
Select item 1301159	NM_007055.4(POLR3A):c.3242+111A>G	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300732	NM_007055.4(POLR3A):c.319-125C>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262539	NM_007055.4(POLR3A):c.3242+67C>T	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249274	NM_007055.4(POLR3A):c.491-109A>G	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247173	NM_007055.4(POLR3A):c.3242+61G>C	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237314	NM_007055.4(POLR3A):c.3242+34T>G	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184600	NM_007055.4(POLR3A):c.2554del (p.Met852fs)	POLR3A (M852fs)	Deletion (frameshift variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely pathogenic
Select item 1184061	NM_007055.4(POLR3A):c.930G>C (p.Trp310Cys)	POLR3A (W310C)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184060	NM_007055.4(POLR3A):c.552_553delinsT (p.Lys184fs)	POLR3A (K184fs)	Indel (frameshift variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided

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