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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
(R761H)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+5 more
GPathogenic/Likely pathogenic
MEFV
Single nucleotide variant
(missense variant +1 more)
MEFV-related condition
+7 more
GConflicting classifications of pathogenicity
MEFV
(V726A)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+5 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
(K695R)
Single nucleotide variant
(missense variant +1 more)
not specified
+9 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+24 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
(I692del)
Deletion
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+6 more
GPathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(R653C)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(R440C)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(G436R)
Single nucleotide variant
(no sequence alteration +2 more)
not provided
+3 more
GBenign
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Acute febrile neutrophilic dermatosis
+5 more
GBenign/Likely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever, autosomal dominant
+3 more
GBenign
MEFV
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MEFV
(Q440E +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+6 more
GConflicting classifications of pathogenicity
MEFV
(R197Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MEFV
(P158S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MEFV
(R329H +1 more)
Single nucleotide variant
(missense variant)
Cryptorchidism
+13 more
GConflicting classifications of pathogenicity
MEFV
(A311V +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MEFV
(A289V)
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
+1 more
GConflicting classifications of pathogenicity
MEFV
(R202Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GBenign
MEFV
(G196W)
Single nucleotide variant
(missense variant +1 more)
MEFV-related condition
+5 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Autoinflammatory syndrome
+5 more
GBenign
MEFV
(R151T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MEFV
Single nucleotide variant
(missense variant +1 more)
MEFV-related condition
+8 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+6 more
GBenign/Likely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Acute febrile neutrophilic dermatosis
+6 more
GBenign/Likely benign
MEFV
(L110P)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Autoinflammatory syndrome
+5 more
GBenign
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