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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
MEFV
(V726A)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+5 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
(R708C)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+5 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(K695R)
Single nucleotide variant
(missense variant +1 more)
not specified
+9 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
Recurrent fever
+24 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+6 more
GPathogenic
LOC126862264, MEFV
(R579H +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GUncertain significance
MEFV
(V487L +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
(K447N +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+4 more
GConflicting classifications of pathogenicity
MEFV
(R197Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MEFV
(P158S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MEFV
(R354W +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(R329H +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+13 more
GConflicting classifications of pathogenicity
MEFV
(R314H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MEFV
(L233M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MEFV
(R204H)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
MEFV
(G185R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MEFV
(S179N)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
Deletion
(inframe_indel +1 more)
not provided
GUncertain significance
MEFV
(E93Q +1 more)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(N78S)
Single nucleotide variant
(missense variant)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(V33L)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+5 more
GConflicting classifications of pathogenicity
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