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Links from MedGen

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNFRSF11B
(T140fs)
Deletion
(frameshift variant)
Hyperphosphatasemia with bone disease
GLikely pathogenic
TNFRSF11B
(E33K)
Single nucleotide variant
(missense variant)
Hyperphosphatasemia with bone disease
+1 more
GUncertain significance
TNFRSF11B
(I240M)
Single nucleotide variant
(missense variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
(V281L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNFRSF11B
(I285V)
Single nucleotide variant
(missense variant)
Hyperphosphatasemia with bone disease
+2 more
GUncertain significance
TNFRSF11B
Single nucleotide variant
(5 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
(T35N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
(G47S)
Single nucleotide variant
(missense variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
(V93I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNFRSF11B
(R103H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNFRSF11B
(R111H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
(L295P)
Single nucleotide variant
(missense variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
(R333*)
Single nucleotide variant
(nonsense)
Hyperphosphatasemia with bone disease
GPathogenic
TNFRSF11B
(V104M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TNFRSF11B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNFRSF11B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TNFRSF11B
(V281M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNFRSF11B
Single nucleotide variant
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
not provided
+1 more
GBenign
TNFRSF11B
Single nucleotide variant
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TNFRSF11B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TNFRSF11B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TNFRSF11B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TNFRSF11B
Single nucleotide variant
(intron variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(intron variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
(N233K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TNFRSF11B
(A234T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNFRSF11B
Single nucleotide variant
(synonymous variant)
Hyperphosphatasemia with bone disease
+1 more
GBenign
TNFRSF11B
Single nucleotide variant
(synonymous variant)
Hyperphosphatasemia with bone disease
+1 more
GBenign
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GBenign
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GLikely benign
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GBenign
TNFRSF11B
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasemia with bone disease
GUncertain significance
TNFRSF11B
(Q243H)
Single nucleotide variant
(missense variant)
Hyperphosphatasemia with bone disease
+1 more
GUncertain significance
TNFRSF11B
Single nucleotide variant
(synonymous variant)
Hyperphosphatasemia with bone disease
+1 more
GConflicting classifications of pathogenicity
TNFRSF11B
(N3K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TNFRSF11B
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
TNFRSF11B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TNFRSF11B
Single nucleotide variant
(intron variant)
Hyperphosphatasemia with bone disease
+2 more
GBenign
TNFRSF11B
(T76P)
Single nucleotide variant
(missense variant)
Hyperphosphatasemia with bone disease
GPathogenic
SAMD12-AS1, TNFRSF11B
Deletion
Hyperphosphatasemia with bone disease
GPathogenic
TNFRSF11B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
TNFRSF11B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TNFRSF11B
(D323fs)
Indel
(frameshift variant)
Hyperphosphatasemia with bone disease
GPathogenic
TNFRSF11B
(F117L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNFRSF11B
(C87Y)
Single nucleotide variant
(missense variant)
Hyperphosphatasemia with bone disease
GPathogenic
TNFRSF11B
(D182del)
Deletion
(inframe_deletion)
Hyperphosphatasemia with bone disease
GPathogenic
COLEC10, TNFRSF11B
Deletion
Hyperphosphatasemia with bone disease
GPathogenic
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