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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR3B
(W27R)
Single nucleotide variant
(missense variant +1 more)
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
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
(L104F +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
(S210G +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(T221fs +1 more)
Duplication
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(R282* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
POLR3B
(L313fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
POLR3B
(M415T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
POLR3B
(A360V +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
POLR3B
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+3 more
GPathogenic/Likely pathogenic
POLR3B
(R384C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
POLR3B
(R384L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
(L391P +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
(V435F +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(T503K +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
(I453fs +1 more)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
(V523E +1 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GPathogenic/Likely pathogenic
POLR3B
(C469R +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(R550* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
POLR3B
(Y538* +1 more)
Single nucleotide variant
(nonsense)
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 acceptor variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
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
(E589K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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
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
GPathogenic/Likely pathogenic
POLR3B
(L669S +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(F672fs +1 more)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(R710C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
+2 more
GConflicting classifications of pathogenicity
POLR3B
(R768H +1 more)
Single nucleotide variant
(missense variant)
POLR3B-related condition
+3 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
POLR3B
(D837N +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(K896* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
(Q845fs +1 more)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Gnot provided
POLR3B
(P925L +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(D926E +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GPathogenic
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GConflicting classifications of pathogenicity
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
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
(E916* +1 more)
Single nucleotide variant
(nonsense)
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
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
(Y1003C +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
LOC100287944, POLR3B
(L1012P +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
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
(L1059V +1 more)
Single nucleotide variant
(missense 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
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