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Links from MedGen

Items: 1 to 100 of 161

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR3B
(I780fs +1 more)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
(I285T +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GLikely pathogenic
POLR3B
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GLikely pathogenic
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(R164* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GPathogenic/Likely pathogenic
POLR3B, LOC100287944
(M1062V +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(C469F +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(R329Q +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
POLR3B
(R879* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GPathogenic/Likely pathogenic
POLR3B
(V768M +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC130008660, POLR3B
Deletion
(splice acceptor variant +1 more)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(Q191K +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(R505K +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(D530fs +1 more)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
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
(R644* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GPathogenic/Likely pathogenic
POLR3B
(V481F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLR3B
(R271* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GLikely pathogenic
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
POLR3B
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(Q1060* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(L1059V +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B, LOC100287944
(A1024V +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(L1012P +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(L391P +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(R384L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
(R384C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
POLR3B
(A360V +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
POLR3B
(R282* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
(T221fs +1 more)
Duplication
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(S210G +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(L104F +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
(R103H +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GConflicting classifications of pathogenicity
POLR3B
(W27R)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(Y1003C +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B, LOC100287944
(I1002T +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(N924D +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GUncertain significance
LOC100287944, POLR3B
(E916* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(C915F +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
LOC100287944, POLR3B
(S909R +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GUncertain significance
POLR3B
(Q845fs +1 more)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(D837N +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(F672fs +1 more)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(L669S +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(V609M +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GUncertain significance
POLR3B
(E589K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
POLR3B
(D576N +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(Y538* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(C469R +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(V435F +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(R747* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
POLR3B
(I745V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
POLR3B
(N499S +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(Q191E +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(L313fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
POLR3B
(R710C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
+2 more
GConflicting classifications of pathogenicity
POLR3B
(R164Q +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC100287944, POLR3B
Single nucleotide variant
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC100287944, POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(V911I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
(R832L +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(V763I +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(V245I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC100287944, POLR3B
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC100287944, POLR3B
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC100287944, POLR3B
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC100287944, POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC100287944, POLR3B
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC100287944, POLR3B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC100287944, POLR3B
(R920H +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+2 more
GUncertain significance
LOC100287944, POLR3B
(V919L +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(A702T +1 more)
Single nucleotide variant
(missense variant)
Pol III-related leukodystrophy
+2 more
GConflicting classifications of pathogenicity
POLR3B
(N700T +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GLikely pathogenic
POLR3A
Single nucleotide variant
(intron variant)
Neonatal pseudo-hydrocephalic progeroid syndrome
GPathogenic
POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GBenign/Likely benign
POLR3B
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GPathogenic
POLR3A
(R254*)
Single nucleotide variant
(nonsense)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+3 more
GPathogenic/Likely pathogenic
POLR3B
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+3 more
GPathogenic/Likely pathogenic
POLR3A
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GLikely pathogenic
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