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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNFRSF11A
(G199S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TNFRSF11A
(P501H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNFRSF11A
(R554H +3 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial expansile osteolysis
+2 more
GUncertain significance
TNFRSF11A
(C443Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial expansile osteolysis
GUncertain significance
TNFRSF11A
(A113V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNFRSF11A
(K240E +1 more)
Single nucleotide variant
(missense variant +1 more)
Bone Paget disease
+6 more
GConflicting classifications of pathogenicity
TNFRSF11A
Single nucleotide variant
(synonymous variant +1 more)
Bone Paget disease
+5 more
GBenign/Likely benign
LOC130062628, TNFRSF11A
Duplication
(inframe_insertion)
not provided
+2 more
GPathogenic
LOC130062628, TNFRSF11A
Duplication
(inframe_insertion)
Familial expansile osteolysis
GLikely pathogenic
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