ClinVar for MedGen (Select 390993) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068444	NM_007055.4(POLR3A):c.3429+51A>G	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely pathogenic
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)	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 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 2444334	NM_007055.4(POLR3A):c.2210AGC[4] (p.Gln739_Pro740insGln)	POLR3A	Microsatellite (inframe_insertion)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 2000172	NM_007055.4(POLR3A):c.2447G>A (p.Arg816Lys)	POLR3A (R816K)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GUncertain significance
Select item 1879069	NM_007055.4(POLR3A):c.646-665_1185+867del	POLR3A	Deletion (splice acceptor variant +1 more)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GPathogenic
Select item 1685410	NM_018082.6(POLR3B):c.2045G>A (p.Arg682Lys)	POLR3B (R624K +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
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 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 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 1333236	NM_007055.4(POLR3A):c.1910-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely pathogenic
Select item 1328130	NM_007055.4(POLR3A):c.2672G>A (p.Arg891Gln)	POLR3A (R891Q)	Single nucleotide variant (missense variant)	POLR3A-related neurological disorders +2 more	GUncertain significance
Select item 1326973	NM_007055.4(POLR3A):c.3350T>C (p.Ile1117Thr)	POLR3A (I1117T)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1326966	NM_007055.4(POLR3A):c.1734A>T (p.Lys578Asn)	POLR3A (K578N)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +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 1275967	NM_018082.6(POLR3B):c.1102-4_1102-3dup	POLR3B	Duplication (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	GBenign
Select item 1241806	NM_018082.6(POLR3B):c.72+184_72+188del	POLR3B	Deletion (5 prime UTR variant +1 more)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	GBenign
Select item 1241049	NM_018082.6(POLR3B):c.1102-3dup	POLR3B	Duplication (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	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
Select item 1184059	NM_007055.4(POLR3A):c.496G>A (p.Val166Ile)	POLR3A (V166I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184058	NM_007055.4(POLR3A):c.441dup (p.Asp148Ter)	POLR3A, LOC126860971 (D148*)	Duplication (nonsense)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
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 1184056	NM_007055.4(POLR3A):c.3745A>C (p.Asn1249His)	POLR3A (N1249H)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184055	NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser)	POLR3A (G1240S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1184054	NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln)	POLR3A (R1136Q)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 1184053	NM_007055.4(POLR3A):c.3205C>T (p.Arg1069Trp)	LOC126860970, POLR3A (R1069W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1184051	NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg)	POLR3A (S941R)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184050	NM_007055.4(POLR3A):c.2810A>T (p.Glu937Val)	POLR3A (E937V)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184049	NM_007055.4(POLR3A):c.272C>T (p.Pro91Leu)	POLR3A, LOC126860971 (P91L)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184048	NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg)	POLR3A (G904R)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 1184047	NM_007055.4(POLR3A):c.2660A>T (p.Asp887Val)	POLR3A (D887V)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184046	NM_007055.4(POLR3A):c.2618G>A (p.Arg873Gln)	POLR3A (R873Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184045	NM_007055.4(POLR3A):c.2549A>G (p.His850Arg)	POLR3A (H850R)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184044	NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu)	POLR3A (F849L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1184043	NM_007055.4(POLR3A):c.2411T>C (p.Ile804Thr)	POLR3A (I804T)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184042	NM_007055.4(POLR3A):c.2381A>C (p.Gln794Pro)	POLR3A (Q794P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184041	NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe)	POLR3A (I700F)	Single nucleotide variant (missense variant)	Leukodystrophy	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 1184039	NM_007055.4(POLR3A):c.2039T>C (p.Met680Thr)	POLR3A (M680T)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
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 1184037	NM_007055.4(POLR3A):c.2005C>G (p.Arg669Gly)	POLR3A (R669G)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
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 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 1184034	NM_007055.4(POLR3A):c.1797G>C (p.Gln599His)	POLR3A (Q599H)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184033	NM_007055.4(POLR3A):c.1795C>A (p.Gln599Lys)	POLR3A (Q599K)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
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 1184031	NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile)	POLR3A (T553I)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184030	NM_007055.4(POLR3A):c.1433C>G (p.Ala478Gly)	POLR3A (A478G)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184029	NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter)	POLR3A (Y434*)	Duplication (nonsense)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184028	NM_007055.4(POLR3A):c.1289+3A>C	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
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 1184026	NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly)	POLR3A (A387G)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1184025	NM_007055.4(POLR3A):c.1048+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 1051646	NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu)	POLR3A (F848L)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GUncertain significance
Select item 1034346	NM_007055.4(POLR3A):c.4012G>A (p.Asp1338Asn)	POLR3A (D1338N)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1034345	NM_007055.4(POLR3A):c.2323_2329del (p.Asn775fs)	POLR3A (N775fs)	Deletion (frameshift variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GPathogenic
Select item 1034344	NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe)	POLR3A (V342F)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1030187	NM_007055.4(POLR3A):c.577T>A (p.Phe193Ile)	POLR3A (F193I)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
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 1030185	NM_007055.4(POLR3A):c.3677T>C (p.Leu1226Pro)	POLR3A (L1226P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030184	NM_007055.4(POLR3A):c.3283G>A (p.Ala1095Thr)	LOC126860970, POLR3A (A1095T)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1030182	NM_007055.4(POLR3A):c.2686G>A (p.Asp896Asn)	POLR3A (D896N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030181	NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn)	POLR3A (K831N)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	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 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 1029124	NM_007055.4(POLR3A):c.-15C>T	POLR3A	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
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 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 976718	NM_007055.4(POLR3A):c.1771-6C>G	POLR3A	Single nucleotide variant (intron variant)	not provided +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 916024	NM_007055.4(POLR3A):c.2779A>G (p.Asn927Asp)	POLR3A (N927D)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880227	NM_007055.4(POLR3A):c.181-11T>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880173	NM_007055.4(POLR3A):c.1770+6T>C	POLR3A	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 880127	NM_007055.4(POLR3A):c.2993G>A (p.Arg998His)	POLR3A (R998H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880079	NM_007055.4(POLR3A):c.*150G>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880078	NM_007055.4(POLR3A):c.*201G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 880077	NM_007055.4(POLR3A):c.*303C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880076	NM_007055.4(POLR3A):c.*308A>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880075	NM_007055.4(POLR3A):c.*339A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 880074	NM_007055.4(POLR3A):c.*344C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880020	NM_007055.4(POLR3A):c.*1335A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880019	NM_007055.4(POLR3A):c.*1339A>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880018	NM_007055.4(POLR3A):c.*1341A>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880017	NM_007055.4(POLR3A):c.*1342A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 879653	NM_007055.4(POLR3A):c.*1457G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 879652	NM_007055.4(POLR3A):c.*1564C>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 879651	NM_007055.4(POLR3A):c.*1585C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 879650	NM_007055.4(POLR3A):c.*1607G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 879649	NM_007055.4(POLR3A):c.*1643C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 879008	NM_007055.4(POLR3A):c.282T>C (p.His94=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878954	NM_007055.4(POLR3A):c.1771-5C>G	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 878953	NM_007055.4(POLR3A):c.1824C>T (p.Ser608=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 878952	NM_007055.4(POLR3A):c.1910-13A>G	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 878906	NM_007055.4(POLR3A):c.3476G>A (p.Arg1159His)	POLR3A (R1159H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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