ClinVar for MedGen (Select 462091) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439820	NM_004356.4(CD81):c.352C>T (p.Gln118Ter)	CD81 (Q118* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 6	GUncertain significance
Select item 1645740	NM_004356.4(CD81):c.159C>T (p.Pro53=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency, common variable, 6 +1 more	GLikely benign
Select item 1347538	NM_004356.4(CD81):c.409G>A (p.Asp137Asn)	CD81 (D137N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 992559	NM_004356.4(CD81):c.583G>A (p.Asp195Asn)	CD81 (D124N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 810931	NM_004356.4(CD81):c.597C>T (p.Ser199=)	CD81	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 784183	NM_004356.4(CD81):c.459+4C>T	CD81	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 707872	NM_004356.4(CD81):c.648+10C>T	CD81	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 626080	NM_004356.4(CD81):c.182-5G>A	CD81	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439472	NM_004356.4(CD81):c.414T>C (p.Asp138=)	CD81	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 12743	NM_004356.4(CD81):c.561+1G>A	CD81	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 6	GPathogenic