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Links from MedGen

Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LZTR1
(L92I)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
(S556N)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+3 more
GUncertain significance
LZTR1
Indel
(missense variant)
Noonan syndrome 10
GLikely pathogenic
LZTR1
(D139G)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GLikely pathogenic
LZTR1
(K70M)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
(R790P)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+2 more
GUncertain significance
LZTR1
(Q775H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LZTR1
(V574M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LZTR1
(V124I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LZTR1
(N148S)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+2 more
GUncertain significance
LZTR1
(D99Y)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
(L824V)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+3 more
GUncertain significance
LZTR1
(R55W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LZTR1
Duplication
(inframe_insertion)
Cardiovascular phenotype
+3 more
GUncertain significance
LZTR1
(F299fs)
Deletion
(frameshift variant)
Noonan syndrome 2
+2 more
GConflicting classifications of pathogenicity
LZTR1
(A381P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LZTR1
(K360*)
Single nucleotide variant
(nonsense)
Noonan syndrome 2
+2 more
GLikely pathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 10
+3 more
GConflicting classifications of pathogenicity
LZTR1
(R412H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+5 more
GLikely pathogenic
LZTR1, LOC130067016
(G8R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LZTR1
(Y155*)
Single nucleotide variant
(nonsense)
Noonan syndrome
+6 more
GPathogenic/Likely pathogenic
LZTR1
(V125I)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+5 more
GUncertain significance
LZTR1
Single nucleotide variant
(intron variant)
Noonan syndrome 2
+5 more
GUncertain significance
LZTR1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LZTR1
(Q784*)
Single nucleotide variant
(nonsense)
Noonan syndrome and Noonan-related syndrome
+1 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GLikely pathogenic
LZTR1
(S176L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LZTR1
(W162*)
Single nucleotide variant
(nonsense)
Noonan syndrome 10
+4 more
GPathogenic
LZTR1
(A834fs)
Deletion
(frameshift variant)
Noonan syndrome 10
GPathogenic
LZTR1
(R519Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
LZTR1
(R170W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LZTR1
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
LZTR1
(V316M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
LZTR1
(R471H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
LZTR1
(R697W)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+4 more
GUncertain significance
LZTR1
(V395I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
LZTR1
(G837S)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
(R725C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
LZTR1
(R418S)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
+4 more
GUncertain significance
LOC130067016, LZTR1
(A20T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
LZTR1
(A108T)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
Single nucleotide variant
(intron variant)
Noonan syndrome 10
GUncertain significance
LZTR1
(S330G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LZTR1
(E660K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
LZTR1
(N754H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
LZTR1
(H121Y)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+4 more
GUncertain significance
LZTR1
(T137N)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
LZTR1
(G135V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LZTR1
(S813R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LZTR1
(R418S)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
Single nucleotide variant
(splice donor variant)
Noonan syndrome 10
GPathogenic
LZTR1
(F241S)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+1 more
GLikely pathogenic
LZTR1
(R567H)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+5 more
GConflicting classifications of pathogenicity
LZTR1
(R755W)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
+5 more
GUncertain significance
LZTR1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
LZTR1
(R237Q)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+4 more
GUncertain significance
LZTR1
(R638C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
LZTR1
(Y529H)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
(Y749H)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+1 more
GUncertain significance
LZTR1
(H120Q)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
(R210*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
LZTR1
(R619C)
Single nucleotide variant
(missense variant)
See cases
+6 more
GUncertain significance
LZTR1
(R435W)
Single nucleotide variant
(missense variant)
Noonan syndrome 2
+5 more
GUncertain significance
LZTR1
(R283Q)
Single nucleotide variant
(missense variant)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
+6 more
GConflicting classifications of pathogenicity
LZTR1
(P281L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
LZTR1
(L580P)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GUncertain significance
LZTR1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
LZTR1
(M91T)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+1 more
GConflicting classifications of pathogenicity
LOC130067016, LZTR1
(G9A)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+5 more
GConflicting classifications of pathogenicity
LZTR1
(R340*)
Single nucleotide variant
(nonsense)
Noonan syndrome 10
+5 more
GConflicting classifications of pathogenicity
LOC130067016, LZTR1
(A20V)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+4 more
GUncertain significance
LZTR1
(G661E)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
+4 more
GUncertain significance
LZTR1
(P635L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
LZTR1
(M91V)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+2 more
GUncertain significance
LZTR1
(E584K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LZTR1
(R412C)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
+9 more
GConflicting classifications of pathogenicity
LZTR1
(R362*)
Single nucleotide variant
(nonsense)
not provided
+8 more
GPathogenic/Likely pathogenic
LZTR1
(S247N)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
GPathogenic
LZTR1
(R284C)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+5 more
GPathogenic
LZTR1
(G248R)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
+6 more
GConflicting classifications of pathogenicity
LZTR1, LOC130067016
(Q10fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
LZTR1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
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