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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDST, FLG
(S3662T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CCDST, FLG
(S2554*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CCDST, FLG
(R2447*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+4 more
GPathogenic/Likely pathogenic
CCDST, FLG
Deletion
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CCDST, FLG
(R501*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+5 more
GPathogenic/Likely pathogenic
CCDST, FLG
(G163*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+2 more
GPathogenic
CCDST, FLG
Single nucleotide variant
(splice donor variant)
Dermatitis, atopic, 2
+1 more
GPathogenic/Likely pathogenic
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