"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549564	NM_007055.4(POLR3A):c.*18C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2412669	NM_007055.4(POLR3A):c.4025-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	Leukodystrophy	GUncertain significance
Select item 549570	NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)	POLR3A (G1335R)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41248	NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr)	POLR3A (A1331T)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 986804	NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs)	POLR3A (V1315fs)	Microsatellite (frameshift variant)	Leukodystrophy +1 more	GPathogenic
Select item 549571	NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn)	POLR3A (D1292N)	Single nucleotide variant (missense variant)	POLR3A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1064452	NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln)	POLR3A (H1286Q)	Single nucleotide variant (missense variant)	Leukodystrophy +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 +2 more	GConflicting classifications of pathogenicity
Select item 1030186	NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter)	POLR3A (R1245*)	Single nucleotide variant (nonsense)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GPathogenic
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 1454335	NM_007055.4(POLR3A):c.3688_3691dup (p.Asn1231delinsArgTer)	POLR3A	Duplication (nonsense)	Leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1429579	NM_007055.4(POLR3A):c.3669C>A (p.Tyr1223Ter)	POLR3A (Y1223*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988361	NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter)	POLR3A (G1219*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 684775	NM_007055.4(POLR3A):c.3583del (p.Asp1195fs)	POLR3A (D1195fs)	Deletion (frameshift variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1184054	NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln)	POLR3A (R1136Q)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 549572	NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)	POLR3A (K1131R)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 432594	NM_007055.4(POLR3A):c.3337-5T>A	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GPathogenic/Likely pathogenic
Select item 619038	NM_007055.4(POLR3A):c.3243-2A>G	LOC126860970, POLR3A	Single nucleotide variant (splice acceptor variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GPathogenic
Select item 549558	NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln)	POLR3A, LOC126860970 (R1069Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2412670	NM_007055.4(POLR3A):c.3115C>T (p.Gln1039Ter)	POLR3A (Q1039*)	Single nucleotide variant (nonsense)	Leukodystrophy	GPathogenic
Select item 41246	NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His)	POLR3A (R1005H)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 31149	NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)	POLR3A (R1005C)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1323486	NM_007055.4(POLR3A):c.2988+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1184052	NM_007055.4(POLR3A):c.2988+1G>T	POLR3A	Single nucleotide variant (splice donor variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 41245	NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter)	POLR3A (E944*)	Single nucleotide variant (nonsense)	Leukodystrophy	GPathogenic
Select item 381806	NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu)	POLR3A (G914E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2412671	NM_007055.4(POLR3A):c.2710G>T (p.Gly904Ter)	POLR3A (G904*)	Single nucleotide variant (nonsense)	Leukodystrophy	GPathogenic
Select item 1184048	NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg)	POLR3A (G904R)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 549566	NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg)	POLR3A (G903R)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 235466	NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)	POLR3A (R873*)	Single nucleotide variant (nonsense)	Leukodystrophy +2 more	GPathogenic
Select item 31146	NM_007055.4(POLR3A):c.2617-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	Leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1442721	NM_007055.4(POLR3A):c.2563C>T (p.Arg855Trp)	POLR3A (R855W)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GUncertain significance
Select item 31145	NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)	POLR3A (M852V)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1051646	NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu)	POLR3A (F848L)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GUncertain significance
Select item 1298491	NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser)	POLR3A (G841S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2687892	NM_007055.4(POLR3A):c.2425G>C (p.Val809Leu)	POLR3A (V809L)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 1029126	NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln)	POLR3A (R808Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 806529	NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter)	POLR3A (R808*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1029125	NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)	POLR3A (G784S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 430255	NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter)	POLR3A (Q707*)	Single nucleotide variant (nonsense)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1184041	NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe)	POLR3A (I700F)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 878363	NM_007055.4(POLR3A):c.2081G>A (p.Arg694His)	POLR3A (R694H)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GUncertain significance
Select item 1184040	NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln)	POLR3A (R682Q)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GUncertain significance
Select item 31143	NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)	POLR3A (G672E)	Single nucleotide variant (missense variant)	POLR3A-related disorder +1 more	GLikely pathogenic
Select item 1184038	NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg)	POLR3A (W671R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 617891	NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)	POLR3A (R669*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1184036	NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe)	POLR3A (L645F)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 372801	NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys)	POLR3A (E644K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Single nucleotide variant (intron variant)	POLR3A-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 1184035	NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg)	POLR3A (S602R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1334854	NM_007055.4(POLR3A):c.1787C>T (p.Thr596Met)	POLR3A (T596M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 976718	NM_007055.4(POLR3A):c.1771-6C>G	POLR3A	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 449556	NM_007055.4(POLR3A):c.1771-7C>G	POLR3A	Single nucleotide variant (intron variant)	POLR3A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 546257	NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln)	POLR3A (R561Q)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GUncertain significance
Select item 986937	NM_007055.4(POLR3A):c.1572+1G>T	POLR3A	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 619037	NM_007055.4(POLR3A):c.1572+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2687893	NM_007055.4(POLR3A):c.1451G>A (p.Arg484Gln)	POLR3A (R484Q)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1385211	NM_007055.4(POLR3A):c.1393C>T (p.Gln465Ter)	POLR3A (Q465*)	Single nucleotide variant (nonsense)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GPathogenic/Likely pathogenic
Select item 301074	NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg)	POLR3A (G457R)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1184027	NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu)	POLR3A (V396L)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 684773	NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter)	POLR3A (R351*)	Single nucleotide variant (nonsense)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GPathogenic
Select item 549560	NM_007055.4(POLR3A):c.1048+5G>T	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1341525	NM_007055.4(POLR3A):c.1046_1047del (p.Gln349fs)	POLR3A (Q349fs)	Deletion (frameshift variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GLikely pathogenic
Select item 2687894	NM_007055.4(POLR3A):c.1031G>T (p.Arg344Leu)	POLR3A (R344L)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 617894	NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	POLR3A (R254*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 684774	NM_007055.4(POLR3A):c.601del (p.Ile201fs)	POLR3A (I201fs)	Deletion (frameshift variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GPathogenic
Select item 242502	NM_007055.4(POLR3A):c.364AAG[1] (p.Lys123del)	LOC126860971, POLR3A (K123del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1304562	NM_007055.4(POLR3A):c.200G>A (p.Arg67His)	LOC126860971, POLR3A (R67H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1184032	NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn)	POLR3A (D57N)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1453734	NM_007055.4(POLR3A):c.147_148insT (p.Pro50fs)	POLR3A (P50fs)	Insertion (frameshift variant)	Leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 916218	NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter)	POLR3A (Y42*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 987177	NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter)	POLR3A (Q31*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 549565	NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)	POLR3A (M1I)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GPathogenic/Likely pathogenic

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Items: 73