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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130067016, LZTR1
(C34fs)
Deletion
(frameshift variant)
Noonan syndrome 2
GLikely pathogenic
LZTR1
(Q319fs)
Deletion
(frameshift variant)
Congenital diaphragmatic hernia
+4 more
GConflicting classifications of pathogenicity
LZTR1
(R412C)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
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