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Links from MedGen

Items: 1 to 100 of 235

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(V138I +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
Duplication
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(M210T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
(L88V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
(T109A +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(S10T +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
GUncertain significance
RIT1
(Y170C +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(R176fs +2 more)
Deletion
(frameshift variant)
Noonan syndrome 8
GUncertain significance
RIT1
(Y169N +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(K139N +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(A109S +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(R183C +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(S43T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
(V25A +1 more)
Single nucleotide variant
(missense variant +1 more)
RIT1-related condition
+1 more
GUncertain significance
RIT1
(K213fs +2 more)
Deletion
(frameshift variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome 8
GLikely benign
RIT1
(A206T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
(I6T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(G149A +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome 8
GLikely benign
RIT1
(K151N +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Deletion
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(M102V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(G17E +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
GUncertain significance
RIT1
(R170K +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(T5I +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
(A69D +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(D68E +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(S157N +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(P64T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(M157R +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(S219fs +2 more)
Deletion
(frameshift variant)
Noonan syndrome 8
GUncertain significance
RIT1
(R122Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(I115F +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
Duplication
Noonan syndrome 8
GUncertain significance
RIT1
Deletion
Noonan syndrome 8
GUncertain significance
DAP3, GON4L
+4 more
Deletion
not provided
GPathogenic
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome 8
GLikely benign
RIT1
(K164Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(R50W +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(S181* +2 more)
Single nucleotide variant
(nonsense)
Noonan syndrome 8
GUncertain significance
RIT1
(R62G +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(A189V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(R148G +2 more)
Single nucleotide variant
(missense variant)
RIT1-related condition
+1 more
GUncertain significance
RIT1
(E77V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(R185H +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(L208Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(D125G +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(R112H +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(D104N +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(L155R +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(R223T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(N98S +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(L35fs +2 more)
Deletion
(frameshift variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
(T91A +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(R206S +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
(D49V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(V167I +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(intron variant)
Noonan syndrome 8
GLikely benign
RIT1
(F114L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
(R23P +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
GUncertain significance
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
GLikely benign
RIT1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 8
+1 more
GLikely benign
RIT1
(V25F +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
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