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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR3B
Indel
(splice donor variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
GLikely pathogenic
POLR3B
(S528F +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
GUncertain significance
POLR3B
(E363K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
GPathogenic
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
POLR3B, LOC100287944
(R1046H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
+1 more
GPathogenic/Likely pathogenic
POLR3B
(D317V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
(R710C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
+2 more
GConflicting classifications of pathogenicity
POLR3B
(A365V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
GPathogenic
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GLikely pathogenic
POLR3B, LOC100287944
(K1130N +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+2 more
GUncertain significance
POLR3B
(E258A +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+3 more
GBenign/Likely benign
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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