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Items: 1 to 100 of 1246

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
LOC130058535, LOC130058536
+916 more
Copy number gain
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
LOC105371046, LOC105371050
+842 more
Copy number gain
See cases
GPathogenic
LOC130058149, LOC130058150
+925 more
Copy number gain
See cases
GPathogenic
LOC130058276, LOC130058277
+148 more
Copy number loss
See cases
GPathogenic
ADCY9, BICDL2
+180 more
Copy number gain
See cases
GPathogenic
ADCY9, ALG1
+262 more
Copy number loss
See cases
GPathogenic
C16orf90, CLUAP1
+101 more
Copy number gain
See cases
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GBenign
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Insertion
(3 prime UTR variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Deletion
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Deletion
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GBenign
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GBenign
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GBenign
MEFV
Deletion
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Deletion
(3 prime UTR variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
MEFV
Single nucleotide variant
(3 prime UTR variant)
Acute febrile neutrophilic dermatosis
+3 more
GBenign/Likely benign
MEFV
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Acute febrile neutrophilic dermatosis
+3 more
GBenign/Likely benign
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
+1 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
Gnot provided
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
Gnot provided
MEFV
Single nucleotide variant
(3 prime UTR variant)
Autoinflammatory syndrome
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR variant)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
(P780T)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+5 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever, autosomal dominant
+4 more
GConflicting classifications of pathogenicity
MEFV
(G779V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(Q778R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(Q778*)
Single nucleotide variant
(nonsense +1 more)
not specified
+1 more
GUncertain significance
MEFV
(Q778fs)
Duplication
(frameshift variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(G777fs)
Deletion
(3 prime UTR variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(G777R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(G776A)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(C773Y)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
GUncertain significance
MEFV
(I772V)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(T771fs)
Deletion
(frameshift variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(P769A)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(A768G)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+1 more
GUncertain significance
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(N766H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MEFV
(G764A)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(G763R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(R761H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
MEFV
(R761S)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(T760I)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(P758S)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
Gnot provided
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+5 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(F756*)
Insertion
(nonsense +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
MEFV
(I755V)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+1 more
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(S749Y)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(S749C)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
(C746G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(C746R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MEFV
(A744T)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
GUncertain significance
MEFV
(A744P)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(F743L)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(F743Y)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
Gnot provided
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