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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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