ClinVar for MedGen (Select 1783683) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192710	NM_000616.5(CD4):c.*92A>G	CD4	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 79 +2 more	GBenign
Select item 1192709	NM_000616.5(CD4):c.*91C>A	CD4	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1192708	NM_000616.5(CD4):c.1346+55T>G	CD4	Single nucleotide variant (intron variant)	Immunodeficiency 79 +1 more	GBenign
Select item 1192707	NM_000616.5(CD4):c.1341T>C (p.Cys447=)	CD4	Single nucleotide variant (synonymous variant)	Immunodeficiency 79 +2 more	GBenign
Select item 1192706	NM_000616.5(CD4):c.1023T>C (p.Ser341=)	CD4	Single nucleotide variant (synonymous variant)	Immunodeficiency 79 +2 more	GBenign
Select item 1192705	NM_000616.5(CD4):c.49+35A>G	CD4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192704	NM_000616.5(CD4):c.49+28del	CD4	Deletion (intron variant)	Immunodeficiency 79 +1 more	GBenign
Select item 1048527	NM_000616.5(CD4):c.1A>G (p.Met1Val)	CD4 (M1V)	Single nucleotide variant (missense variant +3 more)	Immunodeficiency 79	GPathogenic
Select item 1048526	NM_000616.5(CD4):c.1157-1G>A	CD4	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 79	GPathogenic
Select item 626076	NM_000616.5(CD4):c.799A>G (p.Thr267Ala)	CD4 (T267A +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 79 +1 more	GUncertain significance