Related gene-specific medical variations for Gene (Select 958) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248326	NC_000020.10:g.(?_44756757)_(44757679_?)del	CD40	Deletion	not provided	GUncertain significance
Select item 3019118	NM_001250.6(CD40):c.24C>T (p.Cys8=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990072	NM_001250.6(CD40):c.51+17C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978343	NM_001250.6(CD40):c.48C>T (p.Thr16=)	CD40, LOC127893450	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2871277	NM_001250.6(CD40):c.51+20A>G	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848159	NM_001250.6(CD40):c.51+15C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833606	NM_001250.6(CD40):c.9T>C (p.Arg3=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824883	NM_001250.6(CD40):c.51+19G>A	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823824	NM_001250.6(CD40):c.45G>A (p.Leu15=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779787	NM_001250.6(CD40):c.51+16C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697363	NM_001250.6(CD40):c.27C>G (p.Val9=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2428741	NM_001250.6(CD40):c.646+27G>T	CD40	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 3	GBenign
Select item 2183112	NM_001250.6(CD40):c.1del (p.Met1fs)	CD40, LOC127893450 (M1fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2032027	NM_001250.6(CD40):c.33G>A (p.Trp11Ter)	CD40, LOC127893450 (W11*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1962050	NM_001250.6(CD40):c.49G>T (p.Ala17Ser)	CD40, LOC127893450 (A17S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940014	NM_001250.6(CD40):c.12G>T (p.Leu4=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1723248	NM_001250.6(CD40):c.51+7T>C	CD40, LOC127893450	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1401221	NM_001250.6(CD40):c.22T>G (p.Cys8Gly)	CD40, LOC127893450 (C8G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287702	NM_001250.6(CD40):c.51+71C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245520	NM_001250.6(CD40):c.51+53G>A	CD40, LOC127893450	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 338569	NM_001250.6(CD40):c.-1T>C	CD40, LOC127893450	Single nucleotide variant (5 prime UTR variant +1 more)	Hyper-IgM syndrome type 3 +2 more	GBenign

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Links from Gene

Items: 21