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Links from MedGen

Items: 1 to 100 of 308

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(D191H)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(E37Q)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
TNFRSF13B-related disorder
+1 more
GLikely benign
TNFRSF13B
(I281T)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(D191fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Deletion
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(S244R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(K187N)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(R119fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 2
GPathogenic
TNFRSF13B
(M31fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 2
GPathogenic
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(G290V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(P291fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(E36K)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(A181V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(P251S)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
+1 more
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GUncertain significance
ALDH3A2, ALKBH5
+42 more
Duplication
Familial aplasia of the vermis
+2 more
GUncertain significance
TNFRSF13B
Duplication
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Deletion
Immunodeficiency, common variable, 2
GPathogenic
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(N132S)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
+1 more
GUncertain significance
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GBenign
TNFRSF13B
(S223T)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(A245T)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(C255Y)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
+1 more
GUncertain significance
TNFRSF13B
(E19K)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(C50S)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(R14G)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(I281fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(A286T)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(D211N)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(R142T)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(S165G)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(P226R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(E145K)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
+1 more
GLikely benign
TNFRSF13B
(H212P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(M31V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(R32S)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(T241K)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(G289R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(D131N)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(S49F)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
+1 more
GUncertain significance
TNFRSF13B
(Y102*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 2
GPathogenic
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(G143D)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(G260R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(L44P)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(A146V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(F103L)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
(A183G)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(C271R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(T263I)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
GUncertain significance
TNFRSF13B
(C89Y)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 2
+1 more
GUncertain significance
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GBenign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
GLikely benign
TNFRSF13B
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 2
+1 more
GBenign/Likely benign
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