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Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD40
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 3
GBenign
CD40
(G199R)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgM syndrome type 3
GBenign
CD40
Duplication
(intron variant)
Hyper-IgM syndrome type 3
+2 more
GBenign
CD40
(H187R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CD40
(H187Y +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign/Likely benign
CD40
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 3
+1 more
GConflicting classifications of pathogenicity
CD40
(P127S)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
(T104I)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
Single nucleotide variant
(synonymous variant +1 more)
Hyper-IgM syndrome type 3
+1 more
GConflicting classifications of pathogenicity
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40, LOC127893450
Single nucleotide variant
Hyper-IgM syndrome type 3
GUncertain significance
CD40
Single nucleotide variant
(synonymous variant +1 more)
Hyper-IgM syndrome type 3
+1 more
GConflicting classifications of pathogenicity
CD40
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign/Likely benign
CD40
(Q133*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CD40
Single nucleotide variant
(3 prime UTR variant +2 more)
Hyper-IgM syndrome type 3
+1 more
GConflicting classifications of pathogenicity
CD40
Single nucleotide variant
(synonymous variant +1 more)
Hyper-IgM syndrome type 3
+2 more
GConflicting classifications of pathogenicity
CD40
Single nucleotide variant
(splice donor variant)
Immunodeficiency, X-linked, with hyper-IgM
+2 more
GConflicting classifications of pathogenicity
CD40
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GBenign
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
CD40
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyper-IgM syndrome type 3
GUncertain significance
CD40
(P227A +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GBenign
CD40
(R216W +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Hyper-IgM syndrome type 3
+1 more
GBenign
CD40
(S124L)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgM syndrome type 3
+1 more
GBenign
CD40
Single nucleotide variant
(synonymous variant +1 more)
Hyper-IgM syndrome type 3
+1 more
GConflicting classifications of pathogenicity
CD40
Single nucleotide variant
(intron variant)
Hyper-IgM syndrome type 3
+1 more
GConflicting classifications of pathogenicity
CD40
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CD40, LOC127893450
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign
LOC127893450, CD40
Single nucleotide variant
Hyper-IgM syndrome type 3
+1 more
GBenign
CD40, LOC127893450
Single nucleotide variant
Hyper-IgM syndrome type 3
GUncertain significance
LOC127893450, CD40
Single nucleotide variant
Hyper-IgM syndrome type 3
GUncertain significance
CD40
(I33del)
Microsatellite
(inframe_deletion +1 more)
Hyper-IgM syndrome type 3
GPathogenic
CD40
Single nucleotide variant
(splice acceptor variant)
Hyper-IgM syndrome type 3
GPathogenic
CD40
(C83R)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgM syndrome type 3
GPathogenic
CD40
Single nucleotide variant
(synonymous variant +1 more)
Hyper-IgM syndrome type 3
GPathogenic
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