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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
MIR4455, MIR548T
+369 more
Copy number gain
See cases
GPathogenic
ANKRD37, CCDC110
+69 more
Copy number gain
See cases
GPathogenic
CYP4V2, F11
+18 more
Copy number gain
See cases
GUncertain significance
F11, F11-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
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
+1 more
GBenign/Likely benign
F11, F11-AS1
(R497*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
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
GBenign
F11, F11-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
F11, F11-AS1
Duplication
(intron variant)
not provided
GBenign
F11, F11-AS1
Microsatellite
(intron variant)
not provided
GBenign
F11, F11-AS1
Microsatellite
(intron variant)
not provided
GBenign
F11, F11-AS1
Microsatellite
(intron variant)
not provided
GBenign
F11, F11-AS1
(E543K)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
+1 more
GUncertain significance
F11, F11-AS1
(E543G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
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)
not provided
GBenign
F11, F11-AS1
Single nucleotide variant
(intron variant)
Hereditary factor XI deficiency disease
+1 more
GBenign/Likely benign
F11, F11-AS1
(E597K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary factor XI deficiency disease
+2 more
GBenign
F11, F11-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary factor XI deficiency disease
+2 more
GBenign
F11, F11-AS1
(I618S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
F11, F11-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
F11-AS1, F11
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
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