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Items: 1 to 100 of 286

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZBTB45, ZFP28
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064933, LOC130064934
+1093 more
Copy number gain
See cases
GPathogenic
ADM5, BCL2L12
+17 more
Copy number gain
See cases
GBenign
RRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
RRAS
Single nucleotide variant
(3 prime UTR variant)
RRAS-related condition
+1 more
GConflicting classifications of pathogenicity
RRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
RRAS
(L217V)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(V216I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
+2 more
GLikely benign
RRAS
(C215R)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
+1 more
GLikely benign
RRAS
(G211R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
RRAS
(K209N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
GLikely benign
RRAS
(K208R)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(R207K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RRAS
(A205V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RRAS
(A205T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
RRAS
(S204G)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
+1 more
GLikely benign
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
+3 more
GBenign/Likely benign
RRAS
(P200L)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(P200S)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
RRAS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Deletion
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GUncertain significance
RRAS
(R191L)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(R191Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RRAS
(R191G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RRAS
(R191W)
Single nucleotide variant
(missense variant)
Noonan syndrome
+2 more
GUncertain significance
RRAS
(V190L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
GLikely benign
RRAS
(R188Q)
Single nucleotide variant
(missense variant)
Noonan syndrome
+2 more
GConflicting classifications of pathogenicity
RRAS
(R188W)
Single nucleotide variant
(missense variant)
Noonan syndrome
+1 more
GUncertain significance
RRAS
(V187A)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(Q185K)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
RRAS
(E181K)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(E181Q)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
RRAS
(V179M)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
GLikely benign
RRAS
(N178T)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(N178S)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(R176H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RRAS
(R176C)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
+1 more
GLikely benign
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
RRAS
(S172L)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(E170G)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
+1 more
GConflicting classifications of pathogenicity
RRAS
(V166M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
+1 more
GLikely benign
RRAS
(H165D)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Noonan syndrome
GLikely benign
RRAS
(S163P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RRAS
(A162T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
RRAS
(G161S)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
RRAS
(A159P)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(S158fs)
Insertion
(frameshift variant)
not specified
+1 more
GConflicting classifications of pathogenicity
RRAS
(S155P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RRAS
(R154Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RRAS
(P153T)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
(V152I)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GUncertain significance
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Duplication
(intron variant)
Noonan syndrome
GBenign
RRAS
Single nucleotide variant
(intron variant)
RRAS-related condition
+1 more
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
+1 more
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
+1 more
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
not provided
GBenign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
+1 more
GConflicting classifications of pathogenicity
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Deletion
(intron variant)
not provided
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GLikely benign
RRAS
Single nucleotide variant
(intron variant)
RRAS-related condition
+1 more
GConflicting classifications of pathogenicity
RRAS
Single nucleotide variant
(intron variant)
Noonan syndrome
GUncertain significance
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