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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLG, FLG-AS1
(Q2132R)
Single nucleotide variant
(missense variant)
Dermatitis, atopic, 2
GUncertain significance
FLG, FLG-AS1
(G2593*)
Single nucleotide variant
(nonsense)
Dermatitis, atopic, 2
GLikely pathogenic
FLG, FLG-AS1
(R3301*)
Single nucleotide variant
(nonsense)
Dermatitis, atopic, 2
GLikely pathogenic
CCDST, FLG
Single nucleotide variant
(splice donor variant)
Ichthyosis vulgaris
+1 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
Single nucleotide variant
(synonymous variant)
Ichthyosis vulgaris
+2 more
GLikely benign
FLG, FLG-AS1
(S3662T)
Single nucleotide variant
(missense variant)
Ichthyosis vulgaris
+2 more
GBenign/Likely benign
FLG, FLG-AS1
(Q3617*)
Single nucleotide variant
(nonsense)
Dermatitis, atopic, 2
GLikely pathogenic
FLG, FLG-AS1
Indel
Dermatitis, atopic, 2
+1 more
GUncertain significance
CCDST, FLG
(R2613*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+2 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(G163*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+2 more
GPathogenic
FLG, FLG-AS1
(G1724*)
Single nucleotide variant
(nonsense)
Dermatitis, atopic, 2
GPathogenic
FLG, FLG-AS1
(R788*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(D2601N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FLG-AS1, FLG
Deletion
(nonsense)
Dermatitis, atopic, 2
+2 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(N186fs)
Duplication
(frameshift variant)
not provided
GPathogenic
FLG-AS1, FLG
(R740*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+2 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(S3316*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(R3409*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+2 more
GPathogenic/Likely pathogenic
CCDST, FLG
(R826*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+4 more
GConflicting classifications of pathogenicity
FLG, FLG-AS1
(R2447*)
Single nucleotide variant
(nonsense)
FLG-related disorders
+3 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(S3247*)
Single nucleotide variant
(nonsense)
FLG-related disorders
+4 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(S2554*)
Single nucleotide variant
(nonsense)
Dermatitis, atopic, 2
+1 more
GPathogenic/Likely pathogenic
CCDST, FLG
(S761fs)
Microsatellite
(frameshift variant)
FLG-related condition
+5 more
GPathogenic/Likely pathogenic
CCDST, FLG
(R501*)
Single nucleotide variant
(nonsense)
FLG-related disorders
+6 more
GPathogenic/Likely pathogenic
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