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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862264, MEFV
(K695R)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+9 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
MEFV-related condition
+4 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+24 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
(I692del)
Deletion
Autoinflammatory syndrome
+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)
Acute febrile neutrophilic dermatosis
+6 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(G436R)
Single nucleotide variant
(no sequence alteration +2 more)
not specified
+3 more
GBenign
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Acute febrile neutrophilic dermatosis
+5 more
GBenign/Likely benign
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