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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(R176Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+2 more
GUncertain significance
RIT1
(R212W +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+4 more
GConflicting classifications of pathogenicity
RIT1
(T127I +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign
RIT1
(R122L +2 more)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+3 more
GPathogenic/Likely pathogenic
RIT1
(F114Y +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+2 more
GUncertain significance
RIT1
(I115V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GUncertain significance
RIT1
(G95A +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+5 more
GPathogenic
RIT1
(M90I +2 more)
Single nucleotide variant
(missense variant)
RIT1-related disorder
+4 more
GPathogenic/Likely pathogenic
RIT1
(M90I +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GPathogenic/Likely pathogenic
RIT1
(M90V +2 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
RIT1
(Y89H +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+2 more
GPathogenic
RIT1
(D87H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RIT1
(F82L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GPathogenic/Likely pathogenic
RIT1
(F82V +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GPathogenic
RIT1
(F82L +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 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)
RASopathy
+7 more
GPathogenic
RIT1
(D13H +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome and Noonan-related syndrome
+4 more
GConflicting classifications of pathogenicity
RIT1
(S13N +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+4 more
GConflicting classifications of pathogenicity
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