"Ambry Genetics"[submitter] AND "CD40"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1523889	NM_001250.6(CD40):c.73G>T (p.Ala25Ser)	CD40 (A25S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2256546	NM_001250.6(CD40):c.116C>T (p.Ser39Phe)	CD40 (S39F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290696	NM_001250.6(CD40):c.272T>C (p.Val91Ala)	CD40 (V91A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1484567	NM_001250.6(CD40):c.335C>T (p.Thr112Met)	CD40 (T112M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2476996	NM_001250.6(CD40):c.386T>G (p.Phe129Cys)	CD40 (F129C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3264835	NM_001250.6(CD40):c.430G>C (p.Glu144Gln)	CD40 (E144Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3264834	NM_001250.6(CD40):c.673A>G (p.Lys225Glu)	CD40 (K177E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1955501	NM_001250.6(CD40):c.734C>G (p.Ser245Cys)	CD40 (S193C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance