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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LZTR1
(K70R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(splice donor variant)
Schwannomatosis 2
+4 more
GConflicting classifications of pathogenicity
LZTR1
Single nucleotide variant
(splice acceptor variant)
Noonan syndrome
+1 more
GPathogenic
LZTR1
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
+3 more
GLikely pathogenic
LZTR1
(P226L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LZTR1
(Q246*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 1
+1 more
GLikely pathogenic
LZTR1
(R284C)
Single nucleotide variant
(missense variant)
LZTR1-related disorder
+5 more
GPathogenic
LZTR1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LZTR1
(I710fs)
Duplication
(frameshift variant)
LZTR1-related disorder
+1 more
GPathogenic/Likely pathogenic
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