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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYCS
Deletion
(inframe_indel)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
(E90K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
Deletion
(inframe_indel)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
(I58V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYCS
(N55S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(N53S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(A52T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(synonymous variant)
Thrombocytopenia
+1 more
GConflicting classifications of pathogenicity
CYCS
(S48P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
(L33V)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
+1 more
GUncertain significance
CYCS
(H27Y)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
+1 more
GPathogenic/Likely pathogenic
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
(M13I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(M13I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(I10V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(D3Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS, GSDME
+3 more
Duplication
not provided
GUncertain significance
CYCS, GSDME
+1 more
Duplication
not provided
GUncertain significance
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