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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
(V726A)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+5 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
MEFV-related disorder
+4 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
MEFV-related disorder
+24 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
MEFV
(T267I)
Single nucleotide variant
(missense variant +1 more)
MEFV-related disorder
+5 more
GConflicting classifications of pathogenicity
MEFV
(G197fs)
Deletion
(frameshift variant +1 more)
Familial Mediterranean fever
GLikely pathogenic
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