U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130067016, LZTR1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
LOC130067016, LZTR1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
LOC130067016, LZTR1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LZTR1
(K70R)
Indel
(missense variant)
LZTR1-related disorder
GUncertain significance
LZTR1
(M91I)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
GLikely pathogenic
LZTR1
(R107G)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+1 more
GUncertain significance
LZTR1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
LZTR1
(S122L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(synonymous variant)
LZTR1-related disorder
+4 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
LZTR1
(V125I)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+4 more
GUncertain significance
LZTR1
Deletion
(splice acceptor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
LZTR1
(I140N)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
GUncertain significance
LZTR1
(D151N)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+1 more
GUncertain significance
LZTR1
Single nucleotide variant
(synonymous variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GBenign/Likely benign
LZTR1
(R170Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
LZTR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LZTR1
(R175M)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+1 more
GUncertain significance
LZTR1
(R175S)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
GUncertain significance
LZTR1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(synonymous variant)
LZTR1-related disorder
GLikely benign
LZTR1
(Y193S)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
GLikely pathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
LZTR1
(R210*)
Single nucleotide variant
(nonsense)
Schwannomatosis 2
+5 more
GPathogenic
LZTR1
Deletion
(splice donor variant)
LZTR1-related disorder
+2 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(intron variant)
LZTR1-related disorder
+1 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LZTR1
(S247fs)
Deletion
(frameshift variant)
LZTR1-related disorder
GPathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
LZTR1-related disorder
GLikely benign
LZTR1
(L255P)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+1 more
GUncertain significance
LZTR1
(F258fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
LZTR1
(P281L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
LZTR1
(R283Q)
Single nucleotide variant
(missense variant)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
+5 more
GConflicting classifications of pathogenicity
LZTR1
(R284C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
LZTR1
(Y297fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
LZTR1-related disorder
+4 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LZTR1
(E331V)
Indel
(missense variant)
LZTR1-related disorder
GUncertain significance
LZTR1
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GLikely pathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
LZTR1-related disorder
+3 more
GLikely benign
LZTR1
Single nucleotide variant
(intron variant)
LZTR1-related disorder
+2 more
GUncertain significance
LZTR1
Microsatellite
(intron variant)
LZTR1-related disorder
+1 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LZTR1
(R412C)
Single nucleotide variant
(missense variant)
Non-immune hydrops fetalis
+7 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(splice donor variant)
Schwannomatosis 2
+5 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
LZTR1
(V463D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LZTR1
(R466W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LZTR1
(V492I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LZTR1
(P507L)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+3 more
GUncertain significance
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
LZTR1
(L524F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LZTR1
(Y529*)
Single nucleotide variant
(nonsense)
LZTR1-related disorder
+1 more
GPathogenic
LZTR1
(K534*)
Single nucleotide variant
(nonsense)
LZTR1-related disorder
GLikely pathogenic
LZTR1
(G539S)
Single nucleotide variant
(missense variant)
Schwannomatosis 2
+5 more
GUncertain significance
LZTR1
Single nucleotide variant
(splice donor variant)
LZTR1-related disorder
+1 more
GPathogenic/Likely pathogenic
LZTR1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
LZTR1
Deletion
(intron variant)
LZTR1-related disorder
GLikely benign
LZTR1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LZTR1
(R561H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LZTR1
(C566*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
LZTR1
(D575N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
LZTR1
(V581D)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
GUncertain significance
LZTR1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
LZTR1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LZTR1
(V629M)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
GUncertain significance
LZTR1
(R630W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LZTR1
(R630Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
LZTR1
(P635L)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+5 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(intron variant)
LZTR1-related disorder
GUncertain significance
LZTR1
(A662K)
Indel
(missense variant)
LZTR1-related disorder
GUncertain significance
LZTR1
(A664T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LZTR1
(L672fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LZTR1
(R688C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LZTR1
(M695I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LZTR1
(E702fs)
Deletion
(frameshift variant)
LZTR1-related disorder
GLikely pathogenic
LZTR1
Single nucleotide variant
(synonymous variant)
LZTR1-related disorder
+4 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
LZTR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LZTR1
Single nucleotide variant
(intron variant)
LZTR1-related disorder
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination