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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLFN14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SLFN14
(Y770F)
Single nucleotide variant
(missense variant)
SLFN14-related disorder
GLikely benign
SLFN14
Single nucleotide variant
(synonymous variant)
SLFN14-related disorder
+1 more
GBenign/Likely benign
SLFN14
Single nucleotide variant
(synonymous variant)
SLFN14-related disorder
GBenign
SLFN14
Single nucleotide variant
(synonymous variant)
SLFN14-related disorder
GBenign
SLFN14
(P618Q)
Single nucleotide variant
(missense variant)
SLFN14-related disorder
+1 more
GUncertain significance
SLFN14
Single nucleotide variant
(synonymous variant)
SLFN14-related disorder
GBenign
SLFN14
(R486*)
Single nucleotide variant
(nonsense)
SLFN14-related disorder
+2 more
GConflicting classifications of pathogenicity
LOC107985033, SLFN14
Single nucleotide variant
(non-coding transcript variant +1 more)
SLFN14-related disorder
GBenign
SLFN14
(R338W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SLFN14
Single nucleotide variant
(synonymous variant)
SLFN14-related disorder
GLikely benign
SLFN14
Single nucleotide variant
(synonymous variant)
SLFN14-related disorder
GLikely benign
SLFN14
(K166*)
Single nucleotide variant
(nonsense)
SLFN14-related disorder
GUncertain significance
SLFN14
(R132W)
Single nucleotide variant
(missense variant)
SLFN14-related disorder
GLikely benign
SLFN14
Single nucleotide variant
(synonymous variant)
SLFN14-related disorder
+1 more
GBenign/Likely benign
SLFN14
(Q93R)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 20
+1 more
GBenign
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