U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 1100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
(S6N)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(Y19F)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(R39G)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(Q44K)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(L56V)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(I77V)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(R88S)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(S95C)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(A139S)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(R151G)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(G168V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(D170N)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(Q172H)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(L182fs)
Deletion
(frameshift variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(G189R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(A217V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(A220P)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(A220V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(E225G)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(E251Q)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(A255V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(L263R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(T275I)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(A279T)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(L291V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(R305S +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(D97N +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(G114D +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(S363N +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(D180E +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(L185V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(I186T +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(A205T +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(A205S +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(K221N +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(E228K +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(R441Q +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(F480C +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(M490V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(L316V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(G532E +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(T337I +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(E341V +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
LOC126862264, MEFV
Single nucleotide variant
(splice donor variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
LOC126862264, MEFV
(S369fs +1 more)
Duplication
(frameshift variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
LOC126862264, MEFV
(E583K +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
LOC126862264, MEFV
(S614del)
Deletion
(3 prime UTR variant)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
LOC126862264, MEFV
(V657fs)
Duplication
(frameshift variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
LOC126862264, MEFV
(G660A)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(F731V)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(R737K)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(S738Y)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(Y741C)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(S747C)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(G750R)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(R761C)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
(N766K)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
MEFV
Duplication
(nonsense +1 more)
Familial Mediterranean fever, autosomal dominant
+2 more
GUncertain significance
LOC126862264, MEFV
(R635I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
MEFV
(N733S)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(V775M)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+3 more
GUncertain significance
MEFV
(S157R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MEFV
(G197fs)
Deletion
(frameshift variant +1 more)
Familial Mediterranean fever
GLikely pathogenic
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(E266K +1 more)
Indel
(missense variant)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
(P335H +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+2 more
GUncertain significance
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(intron variant)
Familial Mediterranean fever
GLikely benign
Format
Items per page
Sort by
Choose Destination