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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1A, ARL3
+135 more
Deletion
Desmoplastic/nodular medulloblastoma
GPathogenic
LOC130004614, SUFU
(P15L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130004614, SUFU
(A25fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
LOC130004614, SUFU
(P24fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
SUFU
(P49fs)
Duplication
(frameshift variant)
Medulloblastoma
GPathogenic
SUFU
(R123C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SUFU
(H176R)
Single nucleotide variant
(missense variant)
Joubert syndrome 32
GPathogenic
SUFU
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SUFU
(I406T)
Single nucleotide variant
(missense variant)
Medulloblastoma
+1 more
GUncertain significance
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