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Items: 1 to 100 of 836

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, APBA2
+363 more
Copy number gain
See cases
GPathogenic
LOC132090301, LOC132090302
+178 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+99 more
Copy number loss
See cases
GPathogenic
CDIN1, DPH6
+92 more
Copy number loss
See cases
GPathogenic
FAM98B, LOC125078059
+11 more
Copy number gain
See cases
GUncertain significance
SPRED1
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
SPRED1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GUncertain significance
SPRED1
Microsatellite
(5 prime UTR variant)
RASopathy
GLikely benign
SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GUncertain significance
LOC130056788, SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GBenign
LOC130056788, SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GLikely benign
LOC130056789, SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GUncertain significance
LOC130056789, SPRED1
Deletion
(5 prime UTR variant)
Legius syndrome
GLikely benign
LOC130056789, SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(5 prime UTR variant)
Noonan syndrome and Noonan-related syndrome
+1 more
GBenign
SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(5 prime UTR variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
FAM98B, LINC02694
+24 more
Deletion
Legius syndrome
GPathogenic
SPRED1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
SPRED1
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
SPRED1
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
LOC129390685, SPRED1
Deletion
Legius syndrome
GPathogenic
SPRED1
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SPRED1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Legius syndrome
GPathogenic/Likely pathogenic
SPRED1
(M1fs)
Deletion
(frameshift variant +1 more)
Legius syndrome
GLikely pathogenic
SPRED1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Legius syndrome
GPathogenic
SPRED1
(S2R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SPRED1
(E3fs)
Deletion
(frameshift variant)
Legius syndrome
GPathogenic
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
GLikely benign
SPRED1
(T5R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
+2 more
GLikely benign
SPRED1
(A6G)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(T7I)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
GLikely benign
SPRED1
(D9fs)
Deletion
(frameshift variant)
Legius syndrome
GLikely pathogenic
SPRED1
(D9N)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(D9V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
+1 more
GLikely benign
SPRED1
(N10D)
Single nucleotide variant
(missense variant)
Legius syndrome
+1 more
GUncertain significance
SPRED1
(N10S)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(N10K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
SPRED1
(D11N)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(D11V)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
Duplication
(intron variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(splice donor variant)
Legius syndrome
GLikely pathogenic
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
+1 more
GBenign
SPRED1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPRED1
Single nucleotide variant
(intron variant)
not provided
GBenign
SPRED1
Single nucleotide variant
(intron variant)
not provided
GBenign
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
SPRED1
Single nucleotide variant
(intron variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(splice acceptor variant)
Legius syndrome
+1 more
GLikely pathogenic
SPRED1
Deletion
Legius syndrome
GPathogenic
SPRED1
(S13N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
GLikely benign
SPRED1
(Y14fs)
Deletion
(frameshift variant)
Legius syndrome
GPathogenic
SPRED1
(Y14*)
Single nucleotide variant
(nonsense)
Legius syndrome
GPathogenic
SPRED1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
SPRED1
(A15T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SPRED1
(R16G)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(R16*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SPRED1
(R16L)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(R16Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SPRED1
(V17L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRED1
(V17M)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(V17A)
Single nucleotide variant
(missense variant)
Legius syndrome
+1 more
GUncertain significance
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
GLikely benign
SPRED1
(R18*)
Single nucleotide variant
(nonsense)
Legius syndrome
+1 more
GPathogenic
SPRED1
(R18L)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(A19G)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(V20L)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
GLikely benign
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
+2 more
GLikely benign
SPRED1
(M22I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
GLikely benign
SPRED1
(R24*)
Single nucleotide variant
(nonsense)
Legius syndrome
+1 more
GPathogenic
SPRED1
(R24L)
Indel
(missense variant)
not provided
GUncertain significance
SPRED1
(R24Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
SPRED1
(D25G)
Single nucleotide variant
(missense variant)
Legius syndrome
+1 more
GUncertain significance
SPRED1
(S28G)
Single nucleotide variant
(missense variant)
Legius syndrome
+1 more
GUncertain significance
SPRED1
(G30R)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
(G30V)
Single nucleotide variant
(missense variant)
Legius syndrome
GUncertain significance
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
+1 more
GLikely benign
SPRED1
(P33fs)
Insertion
(frameshift variant)
Legius syndrome
GPathogenic
SPRED1
(L34P)
Single nucleotide variant
(missense variant)
Legius syndrome
+1 more
GUncertain significance
SPRED1
Single nucleotide variant
(synonymous variant)
Legius syndrome
GLikely benign
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