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Links from MedGen

Items: 1 to 100 of 998

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEFV
(P335H +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
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
LOC126862264, 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
(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
Duplication
(intron variant)
Familial Mediterranean fever
GBenign
LOC126862264, MEFV
(V690M)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
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
(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
(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
(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
(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
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)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
Duplication
(frameshift 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
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
LOC126862264, MEFV
(N697H)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
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
(synonymous variant +1 more)
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
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
(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
(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
MEFV
Single nucleotide variant
(synonymous variant)
Familial Mediterranean fever
GLikely benign
MEFV
Deletion
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(P306A +1 more)
Single nucleotide variant
(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
MEFV
(T289I +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
GUncertain significance
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
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
GUncertain significance
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
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
(synonymous variant)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
LOC126862264, MEFV
Deletion
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(Y732H)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
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
MEFV
Single nucleotide variant
(intron variant)
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 +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(P183S)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
Single nucleotide variant
(3 prime UTR 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
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
(intron variant)
Familial Mediterranean fever
GLikely benign
MEFV
Single nucleotide variant
(synonymous variant +1 more)
Familial Mediterranean fever
GLikely benign
MEFV
(R501H +1 more)
Indel
(missense variant)
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
(T267S)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(L213P)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
MEFV
(N130K)
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
GUncertain significance
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