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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004614, SUFU
(R5W)
Single nucleotide variant
(missense variant)
Familial meningioma
+3 more
GUncertain significance
LOC130004614, SUFU
(P6S)
Single nucleotide variant
(missense variant)
Familial meningioma
+3 more
GUncertain significance
LOC130004614, SUFU
(A9V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SUFU, LOC130004614
(T13I)
Single nucleotide variant
(missense variant)
Familial meningioma
+4 more
GUncertain significance
LOC130004614, SUFU
Deletion
(inframe_deletion)
Gorlin syndrome
+2 more
GUncertain significance
LOC130004614, SUFU
(P15T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
LOC130004614, SUFU
(G19V)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
LOC130004614, SUFU
(P20A)
Single nucleotide variant
(missense variant)
Familial meningioma
+2 more
GUncertain significance
LOC130004614, SUFU
(P20R)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
LOC130004614, SUFU
(A25fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
LOC130004614, SUFU
(P23R)
Single nucleotide variant
(missense variant)
Familial meningioma
+2 more
GUncertain significance
LOC130004614, SUFU
(P24A)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+3 more
GUncertain significance
LOC130004614, SUFU
(S28L)
Single nucleotide variant
(missense variant)
Familial meningioma
+1 more
GUncertain significance
LOC130004614, SUFU
(L29R)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+3 more
GUncertain significance
LOC130004614, SUFU
(H35Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
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