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Links from OMIM

Items: 1 to 100 of 701

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH3BP2
Duplication
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(R113L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(T327I +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
+1 more
GUncertain significance
SH3BP2
(P431L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(R370* +2 more)
Single nucleotide variant
(nonsense)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(M396V +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Deletion
(inframe_deletion)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(A169V +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Deletion
(inframe_deletion)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(L578R +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(D279N +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P194S +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(E406Q +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P414L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Deletion
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(A494V +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(S114F +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(M430T +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(K547* +2 more)
Duplication
(nonsense)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(R561T +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(P167L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(P418A +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P349S +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(S111L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(Q421* +2 more)
Single nucleotide variant
(nonsense)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(Y505F +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Deletion
(intron variant)
Fibrous dysplasia of jaw
GBenign
SH3BP2
Deletion
(intron variant)
Fibrous dysplasia of jaw
GBenign
SH3BP2
(W558C +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(E172S +2 more)
Indel
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(M110L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(L125Q +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(S344T +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(W36C +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(R326T +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(D165E +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(A439G +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(S475R +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P323L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(G134A +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(H128Y +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P239R +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(A382D +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(P235S +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(D279G +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(R292G +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(Q490H +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(C543* +2 more)
Single nucleotide variant
(nonsense)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(L390P +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P168R +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(V536M +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(V557L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(S177N +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(I156N +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P396S +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(V156A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(D279E +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(P617L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P413L +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(synonymous variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(K293N +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
FGFRL1, GAK
+46 more
Duplication
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P480A +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
Single nucleotide variant
(intron variant)
Fibrous dysplasia of jaw
GLikely benign
SH3BP2
(E190A +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(M1V +2 more)
Single nucleotide variant
(missense variant +1 more)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(P393S +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
GUncertain significance
SH3BP2
(E33K +2 more)
Single nucleotide variant
(missense variant)
Fibrous dysplasia of jaw
+1 more
GUncertain significance
SH3BP2
(R332Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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