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Items: 1 to 100 of 515

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
ABCC9, AEBP2
+133 more
Copy number loss
See cases
GLikely pathogenic
ABCC9, AEBP2
+179 more
Copy number loss
See cases
GPathogenic
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
+1 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
+1 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Duplication
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome and Noonan-related syndrome
+1 more
GBenign/Likely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GLikely benign
KRAS
Deletion
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Duplication
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Duplication
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
+1 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
+1 more
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
RASopathy
+2 more
GBenign/Likely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Duplication
(3 prime UTR variant)
Noonan syndrome
+1 more
GLikely benign
KRAS
Insertion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
+1 more
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
+1 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Deletion
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+2 more
GBenign/Likely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Duplication
(3 prime UTR variant)
Cardio-facio-cutaneous syndrome
+1 more
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GLikely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KRAS
Deletion
(3 prime UTR variant)
Noonan syndrome
+1 more
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
+1 more
GBenign/Likely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome and Noonan-related syndrome
+1 more
GConflicting classifications of pathogenicity
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GBenign/Likely benign
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
Noonan syndrome
GUncertain significance
KRAS, LOC132090079
Duplication
RASopathy
GUncertain significance
KRAS
Deletion
RASopathy
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
KRAS
(M188T)
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
GUncertain significance
KRAS
(V186I)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
KRAS
(V186L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
KRAS
Deletion
(3 prime UTR variant +1 more)
RASopathy
+13 more
GUncertain significance
KRAS
(K184fs)
Deletion
(3 prime UTR variant +1 more)
RASopathy
GUncertain significance
KRAS
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
+1 more
GLikely benign
KRAS
(T183R)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
KRAS
(T183K)
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
GUncertain significance
KRAS
(T183A)
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
GUncertain significance
KRAS
(K180del)
Microsatellite
(3 prime UTR variant +1 more)
RASopathy
GLikely benign
KRAS
(K179R)
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
GUncertain significance
KRAS
(K180del)
Deletion
(3 prime UTR variant +1 more)
Toriello-Lacassie-Droste syndrome
GUncertain significance
KRAS
Microsatellite
(3 prime UTR variant +1 more)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
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