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Links from MedGen

Items: 1 to 100 of 245

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
Single nucleotide variant
(splice acceptor variant)
Familial Mediterranean fever, autosomal dominant
GUncertain significance
Familial Mediterranean fever
GPathogenic
MEFV
(L110P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MEFV
(G100R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
+3 more
GBenign/Likely benign
MEFV
Single nucleotide variant
(synonymous variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(intron variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(E84Q)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(L203P)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(M693T)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(Q351R +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(G137fs)
Deletion
(frameshift variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(K23R)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 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
(R166H +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(G763R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(P131S +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(G219D)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(C144Y)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(Q293* +1 more)
Single nucleotide variant
(nonsense)
Familial Mediterranean fever
+2 more
GPathogenic
MEFV
(D322fs +1 more)
Microsatellite
(frameshift variant)
Familial Mediterranean fever
+2 more
GLikely pathogenic
MEFV
(L13V)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GBenign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(P50L)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 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
MEFV
(A90P)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(Q68*)
Indel
(nonsense)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(R280K)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
MEFV
(T771fs)
Deletion
(frameshift variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(V67M)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+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
(S107A)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 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
(Q68*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
+3 more
GBenign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(G402E)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
Deletion
Familial Mediterranean fever
+1 more
GLikely pathogenic
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(S208T)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(P706L)
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)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
Duplication
(inframe_insertion +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
MEFV
(F240C +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
+2 more
GConflicting classifications of pathogenicity
MEFV
(G189V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(S231T +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(R192G)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 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
(P369T +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+3 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
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
(N270D)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(H561Y +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
(L508V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(W689R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(Y135*)
Single nucleotide variant
(nonsense +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(G114S +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(P183L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+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
LOC126862264, MEFV
(V704G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(K119N)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+2 more
GUncertain significance
MEFV
(K164Q)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(I666F)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(W439G +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(P630L)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(G632A)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(A139D)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
MEFV
Single nucleotide variant
not provided
+3 more
GBenign/Likely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(D438N)
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
MEFV
(S179N)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+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
(G196R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(R708H)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(A511V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(R579C +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
(T548N +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+5 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(R80H)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
(E456D +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MEFV
(E84K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Acute febrile neutrophilic dermatosis
+2 more
GUncertain significance
MEFV
(G111R)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
MEFV
(S104C)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
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