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Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(D233N +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
+1 more
GLikely benign
RIT1
(R176Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+2 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
RIT1
(S161P +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RIT1
(A192V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
RIT1
(K151Q +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
RIT1
(I146M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
+1 more
GLikely benign
RIT1
(R180Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+2 more
GUncertain significance
RIT1
(V143I +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(L178V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
+1 more
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
+1 more
GLikely benign
RIT1
(Y133C +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(Y167C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
+2 more
GBenign
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign
RIT1
(D125G +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(R87C +2 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
RIT1
(R120Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(F114Y +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+2 more
GUncertain significance
RIT1
(R112H +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(R112C +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(H73R +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+2 more
GUncertain significance
RIT1
(H109L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
RIT1
(G95A +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+5 more
GPathogenic
RIT1
(M90I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 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
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
+2 more
GLikely benign
RIT1
(A84V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+3 more
GPathogenic/Likely pathogenic
RIT1
(T83P +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GPathogenic
RIT1
(F82L +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
RIT1
(F82L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GPathogenic/Likely pathogenic
RIT1
(F82C +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
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
(F82I +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GPathogenic
RIT1
(E81G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
RIT1
Deletion
(intron variant)
not specified
+1 more
GLikely benign
RIT1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
RIT1
(Q43E +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GLikely pathogenic
RIT1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
RIT1
(A41G +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RIT1
(A77S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RIT1
(A77P +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+2 more
GPathogenic/Likely pathogenic
RIT1
(A77T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+3 more
GPathogenic/Likely pathogenic
RIT1
(N34Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RIT1
(A57G +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GPathogenic
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
RIT1
(D15E +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(D13H +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+1 more
GUncertain significance
RIT1
(P47L +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
+1 more
GLikely benign
RIT1
(M39T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(T38A +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
RIT1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
RIT1
(S35T +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+3 more
GPathogenic
RIT1
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome 8
+1 more
GLikely benign
RIT1
(K23N +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
+2 more
GPathogenic
RIT1
(A16T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
RIT1
(T22S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
RIT1
(G4E +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
RIT1
(E11Q)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign
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