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Items: 1 to 100 of 549

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
ABTB3, ACACB
+712 more
Copy number gain
See cases
GPathogenic
ALDH1L2, APPL2
+66 more
Copy number loss
See cases
GUncertain significance
LOC130008692, LOC130008693
+316 more
Copy number loss
See cases
GPathogenic
ABTB3, ASCL4
+122 more
Copy number loss
See cases
GUncertain significance
POLR3B
Single nucleotide variant
not provided
GBenign
POLR3B
Single nucleotide variant
not provided
GLikely benign
POLR3B
Single nucleotide variant
Pol III-related leukodystrophy
GUncertain significance
POLR3B
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
POLR3B
Single nucleotide variant
(5 prime UTR variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GBenign
POLR3B
Single nucleotide variant
(5 prime UTR variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GBenign
POLR3B
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(5 prime UTR variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
Single nucleotide variant
(5 prime UTR variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
POLR3B
(L4P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(A5V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
POLR3B
(F8S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
(Q15H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(A18S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(P19R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(V23A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLR3B
(E24Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
not provided
GBenign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GBenign
POLR3B
Deletion
(5 prime UTR variant +1 more)
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
+3 more
GBenign
POLR3B
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Microsatellite
(intron variant)
not provided
GBenign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
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
(5 prime UTR variant +1 more)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GBenign
POLR3B
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(N48I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
POLR3B
(A3T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(E5G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(A11G +1 more)
Single nucleotide variant
(missense variant)
POLR3B-related disorder
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
(P13S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(M72V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
not provided
GBenign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GBenign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
(L78R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLR3B
(Y23F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(D28A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
Duplication
(inframe_insertion)
not provided
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
GBenign
POLR3B
(R103C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
(I113fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
POLR3B
(I113V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
(R128C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(N129S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
+1 more
GBenign
POLR3B
(G134S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GBenign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
(R141H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
GUncertain significance
POLR3B
(N144K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(C145Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLR3B
(P94A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(K157E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3B
(E102K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLR3B
(P104A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(L105S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLR3B
Insertion
(intron variant)
not provided
GBenign
POLR3B
Insertion
(intron variant)
not provided
GLikely benign
POLR3B
Insertion
(intron variant)
not provided
GBenign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GBenign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLR3B
(G166D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR3B
(G115R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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