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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXOSC8
(P81S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 1C
GUncertain significance
EXOSC8
(N180fs)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
LOC130009581, EXOSC8
(F5L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EXOSC8
(A246fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EXOSC8
(G30del)
Deletion
(inframe_deletion)
Pontocerebellar hypoplasia, type 1C
+1 more
GConflicting classifications of pathogenicity
EXOSC8
(L232P)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 1C
GUncertain significance
EXOSC8, LOC130009581
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia, type 1C
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
EXOSC8
(E261*)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia, type 1C
GUncertain significance
EXOSC8
Microsatellite
(intron variant)
Pontocerebellar hypoplasia, type 1C
+1 more
GBenign/Likely benign
EXOSC8
(A2V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 1C
GPathogenic
EXOSC8
(S272T)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 1C
+1 more
GConflicting classifications of pathogenicity
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