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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR3A
(Q1336*)
Single nucleotide variant
(nonsense)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(A1331T)
Single nucleotide variant
(missense variant)
Leukodystrophy
GUncertain significance
POLR3A
(E1261K)
Single nucleotide variant
(missense variant)
Leukodystrophy
+2 more
GConflicting classifications of pathogenicity
POLR3A
(N1249H)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
Insertion
(inframe_indel)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(G1240S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLR3A
(R1136Q)
Single nucleotide variant
(missense variant)
Leukodystrophy
GUncertain significance
LOC126860970, POLR3A
(R1069W)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
POLR3A
(R1005H)
Single nucleotide variant
(missense variant)
Leukodystrophy
+1 more
GConflicting classifications of pathogenicity
POLR3A
(R1005C)
Single nucleotide variant
(missense variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+3 more
GPathogenic/Likely pathogenic
POLR3A
Single nucleotide variant
(splice donor variant)
Leukodystrophy
+1 more
GConflicting classifications of pathogenicity
POLR3A
(E944*)
Single nucleotide variant
(nonsense)
Leukodystrophy
GPathogenic
POLR3A
(S941R)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(E937V)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(G904R)
Single nucleotide variant
(missense variant)
Leukodystrophy
GUncertain significance
POLR3A
(I897N)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GPathogenic
POLR3A
(D887V)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(R873Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
Single nucleotide variant
(splice acceptor variant)
Leukodystrophy
+2 more
GPathogenic/Likely pathogenic
POLR3A
(M852V)
Single nucleotide variant
(missense variant)
Leukodystrophy
+2 more
GPathogenic/Likely pathogenic
POLR3A
(H850R)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(F849L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
POLR3A
(F848L)
Single nucleotide variant
(missense variant)
Leukodystrophy
+1 more
GUncertain significance
POLR3A
(I804T)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(Q794P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A
(G784S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
POLR3A
(N775I)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(C724Y)
Single nucleotide variant
(missense variant)
POLR3A-related disorders
GPathogenic
POLR3A
(I700F)
Single nucleotide variant
(missense variant)
Leukodystrophy
GUncertain significance
POLR3A
(R682Q)
Single nucleotide variant
(missense variant)
Leukodystrophy
+1 more
GUncertain significance
POLR3A
(M680T)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(G672E)
Single nucleotide variant
(missense variant)
POLR3A-related condition
+1 more
GLikely pathogenic
POLR3A
(W671R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3A
(R669G)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(L645F)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(E644K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(intron variant)
POLR3A-related disorders
+8 more
GPathogenic/Likely pathogenic
POLR3A
Single nucleotide variant
(intron variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+1 more
GPathogenic/Likely pathogenic
POLR3A
(S636Y)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(S602R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLR3A
(Q599H)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(Q599K)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
POLR3A
(V581fs)
Duplication
(frameshift variant)
not provided
GPathogenic
POLR3A
(F558L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
POLR3A
(T553I)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(A478G)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(Y434*)
Duplication
(nonsense)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
Single nucleotide variant
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(V396L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(A387G)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(D372N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
POLR3A
(W310C)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(K184fs)
Indel
(frameshift variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(V166I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3A, LOC126860971
(D148*)
Duplication
(nonsense)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
LOC126860971, POLR3A
(R140*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC126860971, POLR3A
(K123del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
POLR3A, LOC126860971
(P91L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(D57N)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
LOC130004143, POLR3A
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POLR3B
(M415T +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+7 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+3 more
GPathogenic/Likely pathogenic
POLR3B
(V523E +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
+9 more
GPathogenic/Likely pathogenic
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