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Links from MedGen

Items: 1 to 100 of 219

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3, LOC130001814
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(M1I)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3, LOC130001814
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(N56fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3, LOC130001814
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Deletion
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(M1I)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
+1 more
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(M1L)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GBenign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3, LOC130001814
(Y100fs)
Insertion
(frameshift variant)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
(I160V)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(D76fs)
Duplication
(frameshift variant)
Pontocerebellar hypoplasia type 1B
GPathogenic/Likely pathogenic
EXOSC3, LOC130001814
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(G44fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(intron variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Deletion
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(R58fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(splice acceptor variant)
Pontocerebellar hypoplasia type 1B
GLikely pathogenic
EXOSC3
(K266R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GUncertain significance
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(S61fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3, LOC130001814
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GBenign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(M1V)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(W238*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(synonymous variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(L141fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(C184fs)
Deletion
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 1B
GPathogenic
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3, LOC130001814
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Deletion
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3, LOC130001814
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(synonymous variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3, LOC130001814
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(G70D)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 1B
GUncertain significance
EXOSC3
(G235R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GLikely pathogenic
EXOSC3
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 1B
GLikely benign
EXOSC3
(R271fs)
Deletion
(3 prime UTR variant +1 more)
Pontocerebellar hypoplasia type 1B
GUncertain significance
EXOSC3, LOC130001814
(G98del)
Microsatellite
(inframe_deletion)
Pontocerebellar hypoplasia type 1B
GUncertain significance
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