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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(N218S +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GConflicting classifications of pathogenicity
RIT1
(R122Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(G95A +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+6 more
GPathogenic
RIT1
(M90V +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GPathogenic
RIT1
(F82C +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+2 more
GPathogenic
RIT1
(F82L +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
RIT1
(E81G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
RIT1
(A57G +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+7 more
GPathogenic
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