Related gene-specific medical variations for Gene (Select 975) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244759	NC_000011.9:g.(?_2398780)_(2418096_?)del	CD81	Deletion	not provided	GUncertain significance
Select item 3016722	NM_004356.4(CD81):c.280-4C>T	CD81, LOC130005139	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012444	NM_004356.4(CD81):c.23A>G (p.Lys8Arg)	CD81, CD81-AS1 (K8R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003102	NM_004356.4(CD81):c.280-14C>T	CD81, LOC130005139 (T130I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2890839	NM_004356.4(CD81):c.60C>T (p.Val20=)	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2889092	NM_004356.4(CD81):c.49T>C (p.Phe17Leu)	CD81, CD81-AS1 (F17L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2877566	NM_004356.4(CD81):c.280-18G>A	CD81, LOC130005139 (A129T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2826574	NM_004356.4(CD81):c.315G>A (p.Glu105=)	CD81, LOC130005139	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798764	NM_004356.4(CD81):c.291C>T (p.Cys97=)	LOC130005139, CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2186773	NM_004356.4(CD81):c.27C>T (p.Cys9=)	CD81, CD81-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2118014	NM_004356.4(CD81):c.48C>G (p.Val16=)	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2114244	NM_004356.4(CD81):c.280-10C>T	CD81, LOC130005139	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106194	NM_004356.4(CD81):c.26G>A (p.Cys9Tyr)	CD81, CD81-AS1 (C9Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2009735	NM_004356.4(CD81):c.66+4A>G	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1918916	NM_004356.4(CD81):c.66+19del	CD81, CD81-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1658444	NM_004356.4(CD81):c.303G>T (p.Leu101=)	CD81, LOC130005139	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602069	NM_004356.4(CD81):c.37C>T (p.Leu13=)	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1561670	NM_004356.4(CD81):c.66+11C>G	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1516331	NM_004356.4(CD81):c.280-9C>T	CD81, LOC130005139	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1460443	NM_004356.4(CD81):c.9G>C (p.Val3=)	CD81, CD81-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1402756	NM_004356.4(CD81):c.11A>G (p.Glu4Gly)	CD81, CD81-AS1 (E4G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1266561	NM_004356.4(CD81):c.280-84G>A	CD81, LOC130005139	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167261	NM_004356.4(CD81):c.288C>T (p.Thr96=)	LOC130005139, CD81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 759355	NM_004356.4(CD81):c.280-6C>T	CD81, LOC130005139	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 636762	NM_004356.4(CD81):c.358G>A (p.Ala120Thr)	CD81 (A120T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636761	NM_004356.4(CD81):c.119A>G (p.Gln40Arg)	CD81 (Q40R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 623757	NM_004356.4(CD81):c.-3G>A	CD81, CD81-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 29