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 227

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC114803478, TRAF3IP2
+1 more
Microsatellite
(intron variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
(S233fs +1 more)
Deletion
(frameshift variant)
Candidiasis, familial, 8
GPathogenic
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(splice donor variant)
Candidiasis, familial, 8
GLikely pathogenic
TRAF3IP2, TRAF3IP2-AS1
(R339T +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
(H163R +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Duplication
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
(R84H +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(R12* +1 more)
Single nucleotide variant
(nonsense)
Candidiasis, familial, 8
GPathogenic
TRAF3IP2, TRAF3IP2-AS1
(Q323H)
Single nucleotide variant
(missense variant +1 more)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
(P335L +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(splice donor variant)
Candidiasis, familial, 8
GLikely pathogenic
TRAF3IP2, TRAF3IP2-AS1
(R35* +3 more)
Single nucleotide variant
(nonsense)
Candidiasis, familial, 8
GPathogenic
TRAF3IP2-AS1, TRAF3IP2
(R458H +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
(R84C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(E546K +3 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(P329L +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(R449S +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2-AS1, TRAF3IP2
+1 more
(P109R +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
(A188V +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
(P280S +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(G345R +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2-AS1
+1 more
(A117fs +1 more)
Deletion
(frameshift variant)
Candidiasis, familial, 8
GPathogenic
LOC114803478, TRAF3IP2
+1 more
(P285T +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Deletion
(splice donor variant)
Candidiasis, familial, 8
GLikely pathogenic
TRAF3IP2, TRAF3IP2-AS1
(S66P +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
+1 more
(A156V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
(Q251* +1 more)
Single nucleotide variant
(nonsense)
Candidiasis, familial, 8
GPathogenic
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
(M457T +3 more)
Single nucleotide variant
(missense variant +1 more)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2-AS1, TRAF3IP2
(P355L +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
(P126H +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2-AS1, TRAF3IP2
(T60I +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(M42V +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2-AS1, TRAF3IP2
+1 more
(V87I +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(N45K +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(K321del +1 more)
Deletion
(inframe_indel +1 more)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
(N54D +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(P298H +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
(R223G +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(P542S +3 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
(A285D +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(Y15D +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(I290S +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
+2 more
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Microsatellite
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Deletion
(intron variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2-AS1, TRAF3IP2
Single nucleotide variant
(synonymous variant)
Candidiasis, familial, 8
GLikely benign
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GLikely benign
LOC114803478, TRAF3IP2
+1 more
(D235H +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(R401W +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(M52V +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
(R187H +1 more)
Indel
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
(R500Q +3 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
TRAF3IP2, TRAF3IP2-AS1
Single nucleotide variant
(intron variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
(H129Y +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
LOC114803478, TRAF3IP2
+1 more
(S256P +1 more)
Single nucleotide variant
(missense variant)
Candidiasis, familial, 8
GUncertain significance
Format
Items per page
Sort by
Choose Destination