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Items: 1 to 100 of 172

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GBenign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
(G4D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
(N43S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GBenign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GBenign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
(R97C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Duplication
(intron variant)
not provided
GBenign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
(R108Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
(N131S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Duplication
(intron variant)
not provided
GBenign
REL
Deletion
(intron variant)
not provided
GBenign
REL
Single nucleotide variant
(intron variant)
not provided
GBenign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
(E159K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
(T164M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
(A180V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Microsatellite
(splice donor variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
(D224N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
(A252T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
(P256H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GBenign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Indel
(intron variant)
not provided
GUncertain significance
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Deletion
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
(T297S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REL
(C304fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
REL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REL
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
(G311fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
REL
(R313H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
REL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
REL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
REL
(S325*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Single nucleotide variant
(intron variant)
not provided
GBenign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REL
Deletion
(intron variant)
not provided
GBenign
REL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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Items per page
Sort by
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