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Links from MedGen

Items: 1 to 100 of 239

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD40LG
Deletion
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(V64A)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GBenign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(G199fs)
Duplication
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(N157T)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(A173V)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(P233L)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GBenign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(S197A)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GBenign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(G38fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(A130T)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GBenign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(I223V)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(T105K)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(Y172D)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(L231W)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(H47fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(G234fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(G167V)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
Single nucleotide variant
(splice donor variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(Q90H)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(V247A)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(H212fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GLikely pathogenic
CD40LG
(G257V)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GLikely pathogenic
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(C218*)
Single nucleotide variant
(nonsense)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(F229L)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GLikely pathogenic
CD40LG
Duplication
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(G252D)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GConflicting classifications of pathogenicity
CD40LG
(T176I)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(Y172C)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GLikely pathogenic
CD40LG
(G167R)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(W140C)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
Single nucleotide variant
(splice donor variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(Q70*)
Single nucleotide variant
(nonsense)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(splice donor variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(L46R)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(Y170*)
Single nucleotide variant
(nonsense)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(Y146*)
Single nucleotide variant
(nonsense)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(Q114fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(I171N)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(S20R)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(F253fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Duplication
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(L100*)
Single nucleotide variant
(nonsense)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
(G144fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
(Q160P)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(Q90*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CD40LG
(T15fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GLikely benign
CD40LG
Single nucleotide variant
(synonymous variant)
Hyper-IgM syndrome type 1
GBenign
CD40LG
(A215T)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(A13E)
Single nucleotide variant
(missense variant)
Hyper-IgM syndrome type 1
GUncertain significance
CD40LG
(R77fs)
Deletion
(frameshift variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Microsatellite
(splice acceptor variant)
Hyper-IgM syndrome type 1
GPathogenic
CD40LG
Deletion
(intron variant)
Hyper-IgM syndrome type 1
GBenign
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