U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 288

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR3A
(G1298V)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely pathogenic
POLR3A
(C632F)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(splice donor variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+1 more
GLikely pathogenic
POLR3A
(R344L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(R484Q)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Microsatellite
(inframe_insertion)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(R816K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLR3A
Deletion
(splice acceptor variant +1 more)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GPathogenic
POLR3B
(R624K +1 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GConflicting classifications of pathogenicity
POLR3A
(Q465*)
Single nucleotide variant
(nonsense)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+2 more
GPathogenic/Likely pathogenic
POLR3A
(Q349fs)
Deletion
(frameshift variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GLikely pathogenic
POLR3A
(T596M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(splice acceptor variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely pathogenic
POLR3A
(R891Q)
Single nucleotide variant
(missense variant)
POLR3A-related neurological disorders
+2 more
GUncertain significance
POLR3A
(I1117T)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(K578N)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GUncertain significance
LOC126860971, POLR3A
(R67H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLR3B
Duplication
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+3 more
GBenign
POLR3B
Deletion
(5 prime UTR variant +1 more)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+3 more
GBenign
POLR3B
Duplication
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+3 more
GBenign
POLR3A
(M852fs)
Deletion
(frameshift variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
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
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
(G1240S)
Single nucleotide variant
(missense variant)
not provided
+2 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
Single nucleotide variant
(splice donor variant)
Leukodystrophy
+1 more
GConflicting classifications of pathogenicity
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, LOC126860971
(P91L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Gnot provided
POLR3A
(G904R)
Single nucleotide variant
(missense variant)
Leukodystrophy
GUncertain significance
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
(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
(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
(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
(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
(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
(D57N)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
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
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
POLR3A
(H1286Q)
Single nucleotide variant
(missense variant)
Leukodystrophy
+1 more
GConflicting classifications of pathogenicity
POLR3A
(F848L)
Single nucleotide variant
(missense variant)
Leukodystrophy
+1 more
GUncertain significance
POLR3A
(D1338N)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(N775fs)
Deletion
(frameshift variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GPathogenic
POLR3A
(V342F)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(F193I)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(R1245*)
Single nucleotide variant
(nonsense)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GPathogenic
POLR3A
(L1226P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126860970, POLR3A
(A1095T)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(D896N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLR3A
(K831N)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(R808Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POLR3A
(G784S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
POLR3A
Single nucleotide variant
(5 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
(Q31*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
POLR3A
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
POLR3A
(Y42*)
Single nucleotide variant
(nonsense)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GLikely pathogenic
POLR3A
(N927D)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
LOC126860971, POLR3A
Single nucleotide variant
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+2 more
GUncertain significance
POLR3A
(R998H)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GLikely benign
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
GUncertain significance
LOC126860971, POLR3A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(synonymous variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination