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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLG, FLG-AS1
(R3301*)
Single nucleotide variant
(nonsense)
Dermatitis, atopic, 2
GLikely pathogenic
CCDST, FLG
(T2496fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CCDST, FLG
(S2344*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+3 more
GPathogenic/Likely pathogenic
CCDST, FLG
Deletion
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(S923fs)
Duplication
(frameshift variant)
Ichthyosis vulgaris
GLikely pathogenic
CCDST, FLG
(S761fs)
Microsatellite
(frameshift variant)
Ichthyosis vulgaris
+5 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(R572*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+1 more
GPathogenic/Likely pathogenic
CCDST, FLG
(R501*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+5 more
GPathogenic/Likely pathogenic
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