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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862264, MEFV
(R717C)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+2 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+5 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(G687D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant)
Acute febrile neutrophilic dermatosis
+2 more
GConflicting classifications of pathogenicity
MEFV
(V332L +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
GUncertain significance
MEFV
(E309V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+1 more
GUncertain significance
MEFV
(D299N +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
(S503C +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
(E207K +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
GUncertain significance
MEFV
(R166G +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
GUncertain significance
MEFV
(T309M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(T267S)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(G196W)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(S166L)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
MEFV
(S154P)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
(R80H)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
(V73I)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
GUncertain significance
MEFV
(P50L)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
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