"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "POLR3A" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2102084	NM_007055.4(POLR3A):c.4171T>C (p.Ter1391Gln)	POLR3A	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1503101	NM_007055.4(POLR3A):c.4169C>T (p.Thr1390Ile)	POLR3A (T1390I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757585	NM_007055.4(POLR3A):c.4158C>T (p.Ile1386=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367859	NM_007055.4(POLR3A):c.4149A>T (p.Glu1383Asp)	POLR3A (E1383D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2016845	NM_007055.4(POLR3A):c.4146T>C (p.Asn1382=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463383	NM_007055.4(POLR3A):c.4141A>G (p.Thr1381Ala)	POLR3A (T1381A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948108	NM_007055.4(POLR3A):c.4138G>A (p.Asp1380Asn)	POLR3A (D1380N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879467	NM_007055.4(POLR3A):c.4137C>T (p.Phe1379=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727161	NM_007055.4(POLR3A):c.4126C>A (p.Pro1376Thr)	POLR3A (P1376T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2015762	NM_007055.4(POLR3A):c.4110G>T (p.Pro1370=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942703	NM_007055.4(POLR3A):c.4110G>A (p.Pro1370=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003921	NM_007055.4(POLR3A):c.4107C>A (p.Asp1369Glu)	POLR3A (D1369E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549364	NM_007055.4(POLR3A):c.4101C>T (p.Asp1367=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130911	NM_007055.4(POLR3A):c.4079T>C (p.Phe1360Ser)	POLR3A (F1360S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709980	NM_007055.4(POLR3A):c.4071C>T (p.Thr1357=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1967563	NM_007055.4(POLR3A):c.4064T>C (p.Ile1355Thr)	POLR3A (I1355T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501275	NM_007055.4(POLR3A):c.4057A>G (p.Met1353Val)	POLR3A (M1353V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1562557	NM_007055.4(POLR3A):c.4053C>A (p.Ile1351=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093317	NM_007055.4(POLR3A):c.4048G>A (p.Gly1350Arg)	POLR3A (G1350R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518292	NM_007055.4(POLR3A):c.4044C>G (p.Ile1348Met)	POLR3A (I1348M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036116	NM_007055.4(POLR3A):c.4042A>G (p.Ile1348Val)	POLR3A (I1348V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380908	NM_007055.4(POLR3A):c.4038C>G (p.Cys1346Trp)	POLR3A (C1346W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379149	NM_007055.4(POLR3A):c.4036T>A (p.Cys1346Ser)	POLR3A (C1346S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1137922	NM_007055.4(POLR3A):c.4025-4T>C	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693294	NM_007055.4(POLR3A):c.4025-17A>G	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536087	NM_007055.4(POLR3A):c.4024+18A>G	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533676	NM_007055.4(POLR3A):c.4024+17T>C	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529118	NM_007055.4(POLR3A):c.4024+13T>A	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 301033	NM_007055.4(POLR3A):c.4024+11T>G	POLR3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2014813	NM_007055.4(POLR3A):c.4024+4G>C	POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2155369	NM_007055.4(POLR3A):c.4016C>G (p.Ser1339Cys)	POLR3A (S1339C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301034	NM_007055.4(POLR3A):c.4002C>T (p.Phe1334=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 301035	NM_007055.4(POLR3A):c.3990C>T (p.Asp1330=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 768373	NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1935436	NM_007055.4(POLR3A):c.3972G>A (p.Thr1324=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353847	NM_007055.4(POLR3A):c.3971C>T (p.Thr1324Met)	POLR3A (T1324M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935203	NM_007055.4(POLR3A):c.3960C>T (p.Ser1320=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540396	NM_007055.4(POLR3A):c.3957C>T (p.Ala1319=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903818	NM_007055.4(POLR3A):c.3951dup (p.Leu1318fs)	POLR3A (L1318fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2901254	NM_007055.4(POLR3A):c.3948G>A (p.Leu1316=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976891	NM_007055.4(POLR3A):c.3946C>T (p.Leu1316=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986804	NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs)	POLR3A (V1315fs)	Microsatellite (frameshift variant)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome +2 more	GPathogenic/Likely pathogenic
Select item 742403	NM_007055.4(POLR3A):c.3901C>T (p.Leu1301=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2099756	NM_007055.4(POLR3A):c.3898G>C (p.Val1300Leu)	POLR3A (V1300L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422576	NM_007055.4(POLR3A):c.3892-3C>G	POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2823953	NM_007055.4(POLR3A):c.3892-4G>T	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421325	NM_007055.4(POLR3A):c.3892-4G>A	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638119	NM_007055.4(POLR3A):c.3892-5C>T	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872749	NM_007055.4(POLR3A):c.3892-16_3892-13del	POLR3A	Deletion (intron variant)	not provided	GLikely benign
Select item 1626944	NM_007055.4(POLR3A):c.3892-15del	POLR3A	Deletion (intron variant)	not provided	GLikely benign
Select item 2017146	NM_007055.4(POLR3A):c.3892-17T>C	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563280	NM_007055.4(POLR3A):c.3891+9G>A	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1481639	NM_007055.4(POLR3A):c.3891+2T>C	POLR3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1901218	NM_007055.4(POLR3A):c.3888C>T (p.Tyr1296=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975479	NM_007055.4(POLR3A):c.3870C>T (p.Leu1290=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751814	NM_007055.4(POLR3A):c.3861G>T (p.Val1287=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301036	NM_007055.4(POLR3A):c.3858C>T (p.His1286=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 301037	NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1472360	NM_007055.4(POLR3A):c.3840G>A (p.Met1280Ile)	POLR3A (M1280I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027476	NM_007055.4(POLR3A):c.3839dup (p.Met1280fs)	POLR3A (M1280fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1392945	NM_007055.4(POLR3A):c.3839T>C (p.Met1280Thr)	POLR3A (M1280T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461990	NM_007055.4(POLR3A):c.3835G>A (p.Gly1279Ser)	POLR3A (G1279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 735051	NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1636789	NM_007055.4(POLR3A):c.3819C>T (p.Tyr1273=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505307	NM_007055.4(POLR3A):c.3815A>G (p.Gln1272Arg)	POLR3A (Q1272R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626824	NM_007055.4(POLR3A):c.3813C>T (p.Ile1271=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402510	NM_007055.4(POLR3A):c.3806A>G (p.Asn1269Ser)	POLR3A (N1269S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816280	NM_007055.4(POLR3A):c.3798G>T (p.Thr1266=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636412	NM_007055.4(POLR3A):c.3798G>A (p.Thr1266=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433515	NM_007055.4(POLR3A):c.3791G>A (p.Arg1264Gln)	POLR3A (R1264Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766475	NM_007055.4(POLR3A):c.3789C>T (p.Ala1263=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050264	NM_007055.4(POLR3A):c.3787G>T (p.Ala1263Ser)	POLR3A (A1263S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878320	NM_007055.4(POLR3A):c.3787G>A (p.Ala1263Thr)	POLR3A (A1263T)	Single nucleotide variant (missense variant)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome +1 more	GUncertain significance
Select item 878321	NM_007055.4(POLR3A):c.3786C>T (p.Ala1262=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1184057	NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys)	POLR3A (E1261K)	Single nucleotide variant (missense variant)	Leukodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2428262	NM_007055.4(POLR3A):c.3780C>T (p.Ile1260=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505162	NM_007055.4(POLR3A):c.3778A>G (p.Ile1260Val)	POLR3A (I1260V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822035	NM_007055.4(POLR3A):c.3760-11G>A	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1147810	NM_007055.4(POLR3A):c.3760-13T>C	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1157403	NM_007055.4(POLR3A):c.3759+17G>A	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644146	NM_007055.4(POLR3A):c.3759+16C>T	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2190648	NM_007055.4(POLR3A):c.3759+10A>G	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744299	NM_007055.4(POLR3A):c.3759+9C>T	POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096392	NM_007055.4(POLR3A):c.3756_3759+5dup	POLR3A	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1486391	NM_007055.4(POLR3A):c.3755A>G (p.Tyr1252Cys)	POLR3A (Y1252C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754730	NM_007055.4(POLR3A):c.3746A>T (p.Asn1249Ile)	POLR3A (N1249I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350062	NM_007055.4(POLR3A):c.3746A>G (p.Asn1249Ser)	POLR3A (N1249S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553910	NM_007055.4(POLR3A):c.3738C>T (p.Thr1246=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301038	NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln)	POLR3A (R1245Q)	Single nucleotide variant (missense variant)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1975668	NM_007055.4(POLR3A):c.3719G>A (p.Gly1240Asp)	POLR3A (G1240D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184055	NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser)	POLR3A (G1240S)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GUncertain significance
Select item 2180035	NM_007055.4(POLR3A):c.3717C>T (p.His1239=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415437	NM_007055.4(POLR3A):c.3701C>G (p.Ala1234Gly)	POLR3A (A1234G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499414	NM_007055.4(POLR3A):c.3700G>A (p.Ala1234Thr)	POLR3A (A1234T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602050	NM_007055.4(POLR3A):c.3699G>A (p.Arg1233=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 878323	NM_007055.4(POLR3A):c.3698G>A (p.Arg1233Gln)	POLR3A (R1233Q)	Single nucleotide variant (missense variant)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome +2 more	GUncertain significance
Select item 301039	NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=)	POLR3A	Single nucleotide variant (synonymous variant)	POLR3-related leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1454335	NM_007055.4(POLR3A):c.3688_3691dup (p.Asn1231delinsArgTer)	POLR3A	Duplication (nonsense)	Leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1636220	NM_007055.4(POLR3A):c.3684A>G (p.Glu1228=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030185	NM_007055.4(POLR3A):c.3677T>C (p.Leu1226Pro)	POLR3A (L1226P)	Single nucleotide variant (missense variant)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome +1 more	GUncertain significance

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