"Ambry Genetics"[submitter] AND "CD81"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2799335	NM_004356.4(CD81):c.116C>T (p.Pro39Leu)	CD81 (P39L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2239027	NM_004356.4(CD81):c.144G>T (p.Glu48Asp)	CD81 (E48D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1347538	NM_004356.4(CD81):c.409G>A (p.Asp137Asn)	CD81 (D137N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1363374	NM_004356.4(CD81):c.518A>G (p.Asn173Ser)	CD81 (N173S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2300731	NM_004356.4(CD81):c.542T>A (p.Ile181Asn)	CD81 (I110N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992559	NM_004356.4(CD81):c.583G>A (p.Asp195Asn)	CD81 (D124N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2406626	NM_004356.4(CD81):c.598G>A (p.Gly200Arg)	CD81 (G129R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610467	NM_004356.4(CD81):c.689T>C (p.Ile230Thr)	CD81 (I159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2990887	NM_004356.4(CD81):c.692G>A (p.Arg231Gln)	CD81 (R231Q +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance