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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLFN14
(R486*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
SLFN14
(V220D)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 20
+2 more
GPathogenic/Likely pathogenic
SLFN14
(K219N)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 20
+2 more
GConflicting classifications of pathogenicity
SLFN14
(K218E)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 20
+1 more
GLikely pathogenic
SLFN14
(F215L)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 20
GUncertain significance
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