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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXW4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
FBXW4
Single nucleotide variant
(intron variant)
not provided
GBenign
FBXW4, LOC130004563
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GBenign/Likely benign
FBXW4, LOC130004563
(A158P)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign
FBXW4, LOC130004563
(V154E)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GBenign
FBXW4, LOC130004563
(A147D)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign
FBXW4
Single nucleotide variant
(synonymous variant +2 more)
Split hand-foot malformation 3
+1 more
GBenign
FBXW4, DPCD
+2 more
Copy number gain
See cases
GUncertain significance
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
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