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Links from MedGen

Items: 1 to 100 of 705

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2, LOC126861201
(I469T +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(K653R +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2, LOC126861201
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Duplication
(intron variant)
Exostoses, multiple, type 2
GBenign
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(splice acceptor variant +1 more)
Exostoses, multiple, type 2
GPathogenic
EXT2
(D416E +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2, LOC126861201
(T467N +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(V126A +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(G662A +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(W253R +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(A173V +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2, LOC126861201
(R498Q +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
+1 more
GUncertain significance
EXT2, LOC126861201
(V512E +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(S347C +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(S323* +1 more)
Single nucleotide variant
(nonsense)
Exostoses, multiple, type 2
GPathogenic
EXT2
(G214C +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(I190L +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
+1 more
GUncertain significance
EXT2
(N8D +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(I137T +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(L242F +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(W429S +1 more)
Single nucleotide variant
(missense variant +1 more)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2, LOC126861201
(P447L +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(Y600C +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(splice donor variant)
Exostoses, multiple, type 2
GLikely pathogenic
EXT2
(V352M +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2, LOC126861201
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(Y40C +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2, LOC126861201
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Microsatellite
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(L272F +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(V329D +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(I677fs +2 more)
Deletion
(frameshift variant)
Exostoses, multiple, type 2
GPathogenic
EXT2
(E368* +1 more)
Single nucleotide variant
(nonsense)
Exostoses, multiple, type 2
GPathogenic
EXT2
(S395F +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(E401fs +1 more)
Deletion
(frameshift variant)
Exostoses, multiple, type 2
GPathogenic
EXT2, LOC126861201
(P480S +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(R199C +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2, LOC126861201
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(P535R +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(T28fs +1 more)
Deletion
(frameshift variant)
Exostoses, multiple, type 2
GPathogenic
EXT2
(W619R +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(R128fs +1 more)
Deletion
(frameshift variant)
Exostoses, multiple, type 2
GPathogenic
EXT2
(Y348D +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2, LOC126861201
(K469N +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2, LOC126861201
(N495fs +2 more)
Deletion
(frameshift variant)
Exostoses, multiple, type 2
GPathogenic
EXT2
(L411del +1 more)
Deletion
(inframe_deletion +1 more)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(A392D +1 more)
Single nucleotide variant
(missense variant +1 more)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(P567L +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(I693fs +2 more)
Deletion
(frameshift variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(L709Q +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(A392fs +2 more)
Duplication
(frameshift variant)
Exostoses, multiple, type 2
GPathogenic
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(Y381* +1 more)
Single nucleotide variant
(nonsense)
Exostoses, multiple, type 2
GPathogenic
EXT2
(M602I +2 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
(V305L +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(T122A +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
+1 more
GUncertain significance
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(splice donor variant)
Exostoses, multiple, type 2
GPathogenic
EXT2
(T287fs +1 more)
Deletion
(frameshift variant)
Exostoses, multiple, type 2
GPathogenic
EXT2
(Y259* +1 more)
Single nucleotide variant
(nonsense)
Exostoses, multiple, type 2
GPathogenic
EXT2
(L166R +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GLikely pathogenic
EXT2
Single nucleotide variant
(synonymous variant +1 more)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(D317N +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(splice acceptor variant)
Exostoses, multiple, type 2
GUncertain significance
EXT2
Single nucleotide variant
(intron variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 2
GLikely benign
EXT2
(L254F +1 more)
Single nucleotide variant
(missense variant)
Exostoses, multiple, type 2
+1 more
GUncertain significance
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