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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
(R761H)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+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)
Autoinflammatory syndrome
+5 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
(K695R)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+9 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(M694del)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 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
(nonsense +1 more)
Familial Mediterranean fever
GUncertain significance
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
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+6 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(T366N)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+1 more
GConflicting classifications of pathogenicity
MEFV
(R197Q)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
MEFV
(P158S)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(missense variant +1 more)
MEFV-related condition
+8 more
GConflicting classifications of pathogenicity
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