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Items: 1 to 100 of 307

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388571, LOC129388572
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
AMPD1, BCAS2
+19 more
Copy number loss
See cases
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GBenign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GBenign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GBenign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
+1 more
GConflicting classifications of pathogenicity
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Duplication
(3 prime UTR variant)
not provided
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
NRAS
Duplication
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GBenign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GBenign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GBenign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GBenign
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome 6
GUncertain significance
NRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NRAS
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
NRAS
Deletion
(splice donor variant)
RASopathy
GUncertain significance
NRAS
(M189V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRAS
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
NRAS
(V188L)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
NRAS
(V188M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
NRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
NRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
NRAS
(P185L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRAS
(P185S)
Single nucleotide variant
(missense variant)
Noonan syndrome 6
+3 more
GConflicting classifications of pathogenicity
NRAS
(M182L)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
NRAS
(C181F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
NRAS
Microsatellite
(inframe_insertion)
RASopathy
GUncertain significance
NRAS
(D176Y)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
NRAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
NRAS
(M168I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRAS
(M168K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRAS
(R167*)
Single nucleotide variant
(nonsense)
RASopathy
GUncertain significance
NRAS
(R164S)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
NRAS
(R164C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
+1 more
GConflicting classifications of pathogenicity
NRAS
(V160I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRAS
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
NRAS
(A155V)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
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