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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
(N766H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
MEFV
(R761H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
MEFV
Single nucleotide variant
(missense variant +1 more)
MEFV-related disorder
+7 more
GConflicting classifications of pathogenicity
MEFV
(V726A)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+5 more
GPathogenic/Likely pathogenic
LOC126862264, MEFV
(V722M)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(K695R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+9 more
GConflicting classifications of pathogenicity
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
LOC126862264, MEFV
(G436R)
Single nucleotide variant
(no sequence alteration +2 more)
not provided
+3 more
GBenign
LOC126862264, MEFV
(R433H)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
LOC126862264, MEFV
(F425Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MEFV
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
MEFV
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
MEFV
(V487L +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
(F479L +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign
MEFV
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
MEFV
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MEFV
(S339F +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+4 more
GUncertain significance
MEFV
(R329H +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+13 more
GConflicting classifications of pathogenicity
MEFV
(E319K +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
MEFV
(G304R)
Single nucleotide variant
(missense variant +1 more)
MEFV-related disorder
+4 more
GConflicting classifications of pathogenicity
MEFV
(T267I)
Single nucleotide variant
(missense variant +1 more)
MEFV-related disorder
+5 more
GConflicting classifications of pathogenicity
MEFV
(E251K)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
MEFV
(S179N)
Single nucleotide variant
(missense variant +1 more)
Acute febrile neutrophilic dermatosis
+3 more
GConflicting classifications of pathogenicity
MEFV
(E167D)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+4 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign
MEFV
Single nucleotide variant
(missense variant +1 more)
MEFV-related disorder
+8 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GBenign/Likely benign
MEFV
(L110P)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MEFV
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GBenign
MEFV
(R42W)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+3 more
GConflicting classifications of pathogenicity
MEFV
(Y19C)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
GUncertain significance
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