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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
(I772V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(T771fs)
Deletion
(frameshift variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(R761H)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+5 more
GPathogenic/Likely pathogenic
MEFV
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
MEFV
(I755V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(S749C)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
MEFV
(F743L)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(V726A)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+5 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
(R717H)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(R717L)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(P714L)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(R708H)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(P706L)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(V704G)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
Recurrent fever
+24 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
(M693T)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(V690L)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(W689R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(L682fs)
Microsatellite
(frameshift variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+6 more
GPathogenic
LOC126862264, MEFV
(G678E)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(I666F)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(R653S)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(P633L)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(G632S)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(P630L)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(P630fs)
Duplication
(frameshift variant +1 more)
Familial Mediterranean fever, autosomal dominant
+4 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(N599D)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(Q594* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(M582L +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(R579H +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GUncertain significance
LOC126862264, MEFV
(Q351R +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(H561Y +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
(V541A +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MEFV
(D322fs +1 more)
Microsatellite
(frameshift variant)
Familial Mediterranean fever
+2 more
GLikely pathogenic
MEFV
Single nucleotide variant
(synonymous variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(A511V +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(D299N +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
(D505Y +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
(Q293* +1 more)
Single nucleotide variant
(nonsense)
Familial Mediterranean fever
+2 more
GPathogenic
MEFV
(S503C +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
(V502I +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(R290C +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(R501G +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(V487M +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(V469A +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(K447N +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
(E446A +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MEFV
(S231T +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(R408L +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
(R408W +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(D391N +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
MEFV
(L384P +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(P369T +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(L367V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MEFV
(P364L +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(R361T +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
(Q356E +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(R354Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MEFV
(R354W +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(R329C +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(G114S +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(G320A +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
(A289V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+5 more
GConflicting classifications of pathogenicity
MEFV
(S288Y)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(P283L)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(P283R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(E276D)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(N270D)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MEFV
(A268V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(I259V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+6 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
(G219D)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(G196R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Duplication
(inframe_insertion +1 more)
Familial Mediterranean fever, autosomal dominant
+4 more
GConflicting classifications of pathogenicity
MEFV
(G189V)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MEFV
(P183L)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(P183T)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+4 more
GConflicting classifications of pathogenicity
MEFV
(R178W)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(P175H)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
(K174E)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(S166L)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
MEFV
(K164Q)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(E163D)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MEFV
(S159G)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(S154P)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(E148V)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+5 more
GConflicting classifications of pathogenicity
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