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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR3A
(Q349fs)
Deletion
(frameshift variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+1 more
GLikely pathogenic
POLR3A
(E1261K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POLR3A
(M1280fs)
Duplication
(frameshift variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+1 more
GPathogenic
POLR3A
(G1358E)
Single nucleotide variant
(missense variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
GLikely pathogenic
POLR3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3A
(N661S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLR3A
Single nucleotide variant
(intron variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
GPathogenic
LOC126860970, POLR3A
Single nucleotide variant
(splice acceptor variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+2 more
GPathogenic
POLR3A
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC126860971, POLR3A
Single nucleotide variant
(splice donor variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
GPathogenic
POLR3A
(R254*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
POLR3A
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
POLR3A
(R669*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
POLR3A
(K1131R)
Single nucleotide variant
(missense variant)
Leukodystrophy
+2 more
GConflicting classifications of pathogenicity
POLR3A
(D1292N)
Single nucleotide variant
(missense variant)
POLR3A-related disorders
+2 more
GConflicting classifications of pathogenicity
POLR3A
(G1335R)
Single nucleotide variant
(missense variant)
Leukodystrophy
+1 more
GConflicting classifications of pathogenicity
POLR3A
(G903R)
Single nucleotide variant
(missense variant)
Leukodystrophy
+1 more
GConflicting classifications of pathogenicity
POLR3A
(M1I)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GPathogenic/Likely pathogenic
POLR3A
Single nucleotide variant
(3 prime UTR variant)
Leukodystrophy
+1 more
GConflicting classifications of pathogenicity
POLR3A
(L1258fs)
Microsatellite
(frameshift variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
GLikely pathogenic
POLR3A
Single nucleotide variant
(synonymous variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
GLikely pathogenic
POLR3A
(S825*)
Single nucleotide variant
(nonsense)
Neonatal pseudo-hydrocephalic progeroid syndrome
GLikely pathogenic
POLR3A
Single nucleotide variant
(intron variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+1 more
GLikely pathogenic
POLR3A
Single nucleotide variant
(intron variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+1 more
GPathogenic/Likely pathogenic
POLR3A, LOC126860970
(R1069Q)
Single nucleotide variant
(missense variant)
Leukodystrophy
+2 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(intron variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+5 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
POLR3A
Single nucleotide variant
(intron variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+2 more
GPathogenic/Likely pathogenic
POLR3A
(K575M)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+2 more
GBenign/Likely benign
POLR3A
(R873*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
POLR3A
(I980V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
POLR3A
(R582L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+2 more
GBenign/Likely benign
POLR3A
(R1005C)
Single nucleotide variant
(missense variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+3 more
GPathogenic/Likely pathogenic
POLR3A
Single nucleotide variant
(splice acceptor variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+2 more
GPathogenic/Likely pathogenic
POLR3A
Single nucleotide variant
(intron variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
+1 more
GPathogenic/Likely pathogenic
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