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Items: 1 to 100 of 334

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDST, FLG
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDST, FLG
(T4030K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(K4022*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+2 more
GConflicting classifications of pathogenicity
FLG, FLG-AS1
(Y3984*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(S3970L)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(H3951fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CCDST, FLG
(S3935P)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(R3879*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLG, FLG-AS1
(Q3859*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLG, FLG-AS1
(S3843*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(R3829C)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(Q3818*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CCDST, FLG
(S3749*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLG, FLG-AS1
(R3743*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(E3694Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(S3678fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
FLG, FLG-AS1
(V3679fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CCDST, FLG
(S3662T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CCDST, FLG
(R3657*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+2 more
GPathogenic
FLG, FLG-AS1
(S3640fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CCDST, FLG
(I3642T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(D3635N)
Single nucleotide variant
(missense variant)
Ichthyosis vulgaris
+1 more
GBenign
CCDST, FLG
(A3603T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(E3593D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FLG, FLG-AS1
(H3582Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(T3579R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FLG, FLG-AS1
(T3579A)
Single nucleotide variant
(missense variant)
not provided
GBenign
FLG, FLG-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDST, FLG
(Q3568R)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(R3564H)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(R3564L)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(G3557A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(W3555R)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(R3530S)
Single nucleotide variant
(missense variant)
not provided
GBenign
FLG, FLG-AS1
(Q3520*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
Single nucleotide variant
(synonymous variant)
Ichthyosis vulgaris
+1 more
GBenign
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FLG-AS1, FLG
(R3442*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+1 more
GConflicting classifications of pathogenicity
FLG, FLG-AS1
(E3429D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDST, FLG
(E3429*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDST, FLG
(R3419*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CCDST, FLG
(R3409*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(E3397fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CCDST, FLG
(R3375W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(T3352R)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CCDST, FLG
(S3316*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CCDST, FLG
(S3296*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+1 more
GPathogenic
CCDST, FLG
(R3272fs)
Deletion
(frameshift variant)
Ichthyosis vulgaris
+1 more
GPathogenic
CCDST, FLG
(S3247*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+4 more
GPathogenic/Likely pathogenic
FLG, FLG-AS1
(G3241fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FLG, FLG-AS1
(G3241*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLG, FLG-AS1
Microsatellite
(nonsense)
not provided
GPathogenic
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FLG, FLG-AS1
(Q3199*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
Single nucleotide variant
(synonymous variant)
Ichthyosis vulgaris
+1 more
GBenign
CCDST, FLG
(S3180*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(V3179G)
Single nucleotide variant
(missense variant)
Ichthyosis vulgaris
+1 more
GBenign
CCDST, FLG
(S3174G)
Single nucleotide variant
(missense variant)
not provided
GBenign
FLG, FLG-AS1
(S3132T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CCDST, FLG
(Y3105D)
Single nucleotide variant
(missense variant)
not provided
GBenign
FLG, FLG-AS1
(A3094fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CCDST, FLG
(G3088R)
Single nucleotide variant
(missense variant)
not provided
GBenign
FLG, FLG-AS1
(G3085*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(R3051W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GLikely benign
CCDST, FLG
(Q3042R)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDST, FLG
(S3039P)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(Q3029*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+1 more
GPathogenic/Likely pathogenic
CCDST, FLG
Duplication
(nonsense +1 more)
not provided
GPathogenic
FLG, FLG-AS1
(G3021*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(R3009*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLG, FLG-AS1
(S2988R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(Q2983L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(E2976D)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(R2971*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLG, FLG-AS1
(S2965*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(G2960S)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(D2936G)
Single nucleotide variant
(missense variant)
Ichthyosis vulgaris
+1 more
GBenign
CCDST, FLG
(L2923R)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(G2917V)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
(W2907*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(E2898Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CCDST, FLG
(D2866V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(G2850S)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDST, FLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDST, FLG
(S2836R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CCDST, FLG
(G2833*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
CCDST, FLG
Single nucleotide variant
(synonymous variant)
Ichthyosis vulgaris
+1 more
GBenign
CCDST, FLG
(E2768D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CCDST, FLG
(R2766H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDST, FLG
(W2754*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDST, FLG
(R2727W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FLG, FLG-AS1
(S2706fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
CCDST, FLG
(S2706*)
Single nucleotide variant
(nonsense)
Ichthyosis vulgaris
+1 more
GPathogenic
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