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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130067016, LZTR1
(Q10fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
LZTR1
(H121D)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
GLikely pathogenic
LZTR1
(A174T)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
GUncertain significance
LZTR1
(R210*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
LZTR1
(G248R)
Single nucleotide variant
(missense variant)
Fetal cystic hygroma
+6 more
GConflicting classifications of pathogenicity
LZTR1
(S327I)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
GUncertain significance
LZTR1
(S330I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
LZTR1
(D444N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LZTR1
(A516P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LZTR1
(Y691fs)
Deletion
(frameshift variant)
Schwannomatosis 2
GLikely pathogenic
LZTR1
(V773M)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LZTR1
(I821T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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