"GeneDx"[submitter] AND "CD81"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1277533	NM_001297649.2(CD81):c.-148+835T>C	CD81, CD81-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237143	NM_004356.4(CD81):c.67-274G>A	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244889	NM_004356.4(CD81):c.67-106C>T	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269202	NM_004356.4(CD81):c.181+240T>C	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265931	NM_004356.4(CD81):c.280-238G>A	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268630	NM_004356.4(CD81):c.280-216G>A	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266561	NM_004356.4(CD81):c.280-84G>A	CD81, LOC130005139	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181316	NM_004356.4(CD81):c.459+134T>G	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227832	NM_004356.4(CD81):c.459+148C>T	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253260	NM_004356.4(CD81):c.459+172G>C	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288694	NM_004356.4(CD81):c.561+70G>T	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291947	NM_004356.4(CD81):c.561+323A>G	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
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 1170392	NM_004356.4(CD81):c.639T>C (p.Ala213=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1222299	NM_004356.4(CD81):c.648+27C>T	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235271	NM_004356.4(CD81):c.*241A>G	CD81	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287313	NM_004356.4(CD81):c.*256dup	CD81	Duplication (3 prime UTR variant)	not provided	GBenign