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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862264, MEFV
(E685K)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
Gnot provided
MEFV
(D389V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
Gnot provided
MEFV
(R361T +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
(H123Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
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