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Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LZTR1
(P701L)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
GUncertain significance
LZTR1
(L559*)
Single nucleotide variant
(nonsense)
Noonan syndrome 2
GPathogenic
LZTR1
(Q282*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
LZTR1
Single nucleotide variant
(splice donor variant)
Noonan syndrome 2
GLikely pathogenic
LZTR1
(F692L)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+2 more
GConflicting classifications of pathogenicity
LZTR1
(N148S)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+2 more
GUncertain significance
LZTR1
(F299fs)
Deletion
(frameshift variant)
Noonan syndrome 2
+2 more
GConflicting classifications of pathogenicity
LZTR1
(R561H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LZTR1
(C229R)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+1 more
GConflicting classifications of pathogenicity
LZTR1
(K360*)
Single nucleotide variant
(nonsense)
Noonan syndrome 2
+2 more
GLikely pathogenic
LZTR1
(R412H)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+6 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+5 more
GLikely pathogenic
LZTR1
(Q762*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LZTR1
(Y155*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
LZTR1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+5 more
GUncertain significance
LZTR1
(A116G)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
GLikely pathogenic
LZTR1
(K147fs)
Duplication
(frameshift variant)
Noonan syndrome 2
GLikely pathogenic
LZTR1
(Y535*)
Single nucleotide variant
(nonsense)
Noonan syndrome 2
+3 more
GPathogenic/Likely pathogenic
LZTR1
(Y352S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LZTR1
(H121Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LZTR1
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LZTR1
(F241S)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+1 more
GLikely pathogenic
LZTR1
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(splice acceptor variant)
Noonan syndrome 2
+4 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
LZTR1
(I821T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LZTR1
(Y749H)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+1 more
GUncertain significance
LZTR1
(H121D)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
GLikely pathogenic
LZTR1
(R755Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LZTR1
(R210*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
LZTR1
Single nucleotide variant
(intron variant)
Schwannomatosis 2
GLikely pathogenic
LZTR1
(R435W)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
LZTR1
(I462T)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+3 more
GUncertain significance
LZTR1
(A461D)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
GUncertain significance
LZTR1
(Y749C)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+4 more
GUncertain significance
LZTR1
(W469*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LZTR1
Single nucleotide variant
(5 prime UTR variant)
Schwannomatosis 2
+5 more
GConflicting classifications of pathogenicity
LZTR1
(W437*)
Single nucleotide variant
(nonsense)
Noonan syndrome 2
+3 more
GPathogenic
LZTR1
Single nucleotide variant
(splice donor variant)
Noonan syndrome 2
+4 more
GPathogenic/Likely pathogenic
LZTR1
(S344fs)
Deletion
(frameshift variant)
Noonan syndrome 2
+1 more
GPathogenic/Likely pathogenic
LZTR1
Single nucleotide variant
(intron variant)
Noonan syndrome 2
+5 more
GConflicting classifications of pathogenicity
LZTR1
(Y726*)
Single nucleotide variant
(nonsense)
Noonan syndrome 2
+3 more
GPathogenic
LZTR1
(K682E)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+3 more
GConflicting classifications of pathogenicity
LZTR1
(I796T)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
+4 more
GConflicting classifications of pathogenicity
LOC130067016, LZTR1
(Q10fs)
Duplication
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
LZTR1
(R362*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+8 more
GPathogenic/Likely pathogenic
LOC130067016, LZTR1
(Q10fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+5 more
GPathogenic
LZTR1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
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