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Links from Gene

Items: 1 to 100 of 212

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F11, F11-AS1
(Y614D)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
(A570T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F11
Deletion
not provided
GPathogenic
F11
Deletion
not provided
GPathogenic
F11
Deletion
not provided
GPathogenic
F11
Deletion
not provided
GPathogenic
F11
(I441fs)
Deletion
(frameshift variant)
Hereditary factor XI deficiency disease
GPathogenic
F11
(H145P)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
(G505fs)
Deletion
(frameshift variant)
not provided
GPathogenic
F11, F11-AS1
Duplication
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Duplication
(intron variant)
not provided
GBenign
F11, F11-AS1
(E543*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
F11, F11-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
(T593S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Deletion
(intron variant)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Microsatellite
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Deletion
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
(G591D)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
F11, F11-AS1
Insertion
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Deletion
(intron variant)
not provided
GLikely benign
F11, F11-AS1
(W519C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
F11, F11-AS1
(Q623fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
F11, F11-AS1
(V611M)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
Single nucleotide variant
(splice acceptor variant)
F11-related disorder
GLikely pathogenic
F11
(T407K)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GUncertain significance
F11
(T231P)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GUncertain significance
F11, F11-AS1
(C545Y)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GUncertain significance
F11
(V490A)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GUncertain significance
F11-AS1, F11
(E613K)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11
(W246fs)
Deletion
(frameshift variant)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
(N530S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F11, F11-AS1
(N584S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
(G576*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Microsatellite
(3 prime UTR variant +1 more)
not provided
GUncertain significance
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
(C545R)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GUncertain significance
F11, F11-AS1
(G576E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
F11, F11-AS1
(I618V)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
GUncertain significance
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Deletion
(no sequence alteration +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
Hereditary factor XI deficiency disease
+1 more
GConflicting classifications of pathogenicity
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
(K582fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
F11, F11-AS1
(E543G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F11, F11-AS1
Microsatellite
(intron variant)
not provided
GBenign
F11, F11-AS1
Microsatellite
(intron variant)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
F11, F11-AS1
Duplication
(intron variant)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
F11, F11-AS1
Microsatellite
(intron variant)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(intron variant)
Hereditary factor XI deficiency disease
+1 more
GBenign/Likely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
Hereditary factor XI deficiency disease
+1 more
GBenign/Likely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11-AS1, F11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
F11, F11-AS1
(V509I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
F11
(V77A)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GUncertain significance
F11-AS1, F11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
F11, F11-AS1
(E620Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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