ClinVar for MedGen (Select 328419) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2138350	NM_001250.6(CD40):c.170C>T (p.Thr57Met)	CD40 (T57M)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 993383	NM_001250.6(CD40):c.559+36G>C	CD40 (G199R)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GBenign
Select item 984483	NM_001250.6(CD40):c.647-3dup	CD40	Duplication (intron variant)	Hyper-IgM syndrome type 3 +2 more	GBenign
Select item 898906	NM_001250.6(CD40):c.622A>G (p.Ile208Val)	CD40 (H187R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 897762	NM_001250.6(CD40):c.621C>T (p.Ala207=)	CD40 (H187Y +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 897761	NM_001250.6(CD40):c.498-7T>C	CD40	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897760	NM_001250.6(CD40):c.379C>T (p.Pro127Ser)	CD40 (P127S)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 3	GUncertain significance
Select item 897759	NM_001250.6(CD40):c.311C>T (p.Thr104Ile)	CD40 (T104I)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 3	GUncertain significance
Select item 896159	NM_001250.6(CD40):c.249C>T (p.Cys83=)	CD40	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 895950	NM_001250.6(CD40):c.*676C>T	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3	GUncertain significance
Select item 895949	NM_001250.6(CD40):c.*560C>T	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3	GUncertain significance
Select item 895948	NM_001250.6(CD40):c.*372A>C	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3	GUncertain significance
Select item 895885	NM_001250.5(CD40):c.-67G>T	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
Select item 750493	NM_001250.6(CD40):c.444C>T (p.Val148=)	CD40	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 714820	NM_001250.6(CD40):c.717C>T (p.Pro239=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 631877	NM_001250.6(CD40):c.397C>T (p.Gln133Ter)	CD40 (Q133*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618003	NM_001250.6(CD40):c.750A>G (p.Pro250=)	CD40	Single nucleotide variant (synonymous variant +2 more)	Hyper-IgM syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 496127	NM_001250.6(CD40):c.381C>T (p.Pro127=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 439466	NM_001250.6(CD40):c.256+2T>C	CD40	Single nucleotide variant (splice donor variant)	Immunodeficiency, X-linked, with hyper-IgM +2 more	GConflicting classifications of pathogenicity
Select item 377634	NM_001250.6(CD40):c.403+20A>G	CD40	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 3 +2 more	GBenign/Likely benign
Select item 338586	NM_001250.6(CD40):c.*677G>A	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338585	NM_001250.6(CD40):c.*547A>T	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GUncertain significance
Select item 338583	NM_001250.6(CD40):c.*316G>C	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GBenign
Select item 338582	NM_001250.6(CD40):c.*310C>G	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338580	NM_001250.6(CD40):c.*178G>A	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 338579	NM_001250.6(CD40):c.*135C>G	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GBenign
Select item 338577	NM_001250.6(CD40):c.*85G>T	CD40	Single nucleotide variant (3 prime UTR variant +1 more)	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338576	NM_001250.6(CD40):c.679C>G (p.Pro227Ala)	CD40 (P227A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 338574	NM_001250.6(CD40):c.606C>T (p.Phe202=)	CD40 (R216W +1 more)	Single nucleotide variant (synonymous variant +2 more)	Hyper-IgM syndrome type 3 +1 more	GBenign
Select item 338573	NM_001250.6(CD40):c.371C>T (p.Ser124Leu)	CD40 (S124L)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GBenign
Select item 338572	NM_001250.6(CD40):c.339T>C (p.Ser113=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338571	NM_001250.6(CD40):c.256+8C>T	CD40	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 338570	NM_001250.6(CD40):c.52-15C>T	CD40	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 338569	NM_001250.6(CD40):c.-1T>C	CD40, LOC127893450	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 338568	NM_001250.5(CD40):c.-41C>T	CD40, LOC127893450	Single nucleotide variant	not provided +1 more	GBenign
Select item 338567	NM_001250.5(CD40):c.-55C>G	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338566	NM_001250.5(CD40):c.-61G>T	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
Select item 29611	NM_001250.6(CD40):c.95TAA[1] (p.Ile33del)	CD40 (I33del)	Microsatellite (inframe_deletion +1 more)	Hyper-IgM syndrome type 3	GPathogenic
Select item 17750	NM_001250.6(CD40):c.257-2A>T	CD40	Single nucleotide variant (splice acceptor variant)	Hyper-IgM syndrome type 3	GPathogenic
Select item 17749	NM_001250.6(CD40):c.247T>C (p.Cys83Arg)	CD40 (C83R)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 3	GPathogenic
Select item 17748	NM_001250.6(CD40):c.408A>T (p.Thr136=)	CD40	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgM syndrome type 3	GPathogenic

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Items: 42