CD81[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 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 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 155520	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3	ASCL2, C11orf21 +32 more	Copy number gain	See cases	GUncertain significance
Select item 148331	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3	ASCL2, C11orf21 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1277533	NM_001297649.2(CD81):c.-148+835T>C	LOC130005132, CD81 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 1460443	NM_004356.4(CD81):c.9G>C (p.Val3=)	CD81, CD81-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 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 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 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 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 2118014	NM_004356.4(CD81):c.48C>G (p.Val16=)	CD81, CD81-AS1	Single nucleotide variant (synonymous 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 2890839	NM_004356.4(CD81):c.60C>T (p.Val20=)	CD81, CD81-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1561670	NM_004356.4(CD81):c.66+11C>G	CD81, CD81-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 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 1537889	NM_004356.4(CD81):c.67-20C>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1468613	NM_004356.4(CD81):c.67-19T>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164238	NM_004356.4(CD81):c.67-15C>T	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1652068	NM_004356.4(CD81):c.67-13C>T	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2777633	NM_004356.4(CD81):c.67-9C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1441145	NM_004356.4(CD81):c.69G>A (p.Leu23=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2135538	NM_004356.4(CD81):c.71C>T (p.Ala24Val)	CD81 (A24V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3019980	NM_004356.4(CD81):c.78C>T (p.Gly26=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1170051	NM_004356.4(CD81):c.78C>A (p.Gly26=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1602565	NM_004356.4(CD81):c.87G>C (p.Leu29=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2995550	NM_004356.4(CD81):c.95C>G (p.Ala32Gly)	CD81 (A32G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1590139	NM_004356.4(CD81):c.96C>A (p.Ala32=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2697189	NM_004356.4(CD81):c.105C>G (p.Leu35=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1938345	NM_004356.4(CD81):c.106C>T (p.Arg36Cys)	CD81 (R36C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2779219	NM_004356.4(CD81):c.107G>A (p.Arg36His)	CD81 (R36H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2865940	NM_004356.4(CD81):c.110A>T (p.His37Leu)	CD81 (H37L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2799335	NM_004356.4(CD81):c.116C>T (p.Pro39Leu)	CD81 (P39L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	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 2012333	NM_004356.4(CD81):c.122C>A (p.Thr41Asn)	CD81 (T41N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2904837	NM_004356.4(CD81):c.123C>T (p.Thr41=)	CD81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1953783	NM_004356.4(CD81):c.124A>G (p.Thr42Ala)	CD81 (T42A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 734971	NM_004356.4(CD81):c.126C>G (p.Thr42=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1931884	NM_004356.4(CD81):c.128A>G (p.Asn43Ser)	CD81 (N43S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 2826148	NM_004356.4(CD81):c.145C>A (p.Leu49Met)	CD81 (L49M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972488	NM_004356.4(CD81):c.152A>G (p.Asp51Gly)	CD81 (D51G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2875425	NM_004356.4(CD81):c.155A>G (p.Lys52Arg)	CD81 (K52R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 2988347	NM_004356.4(CD81):c.160G>A (p.Ala54Thr)	CD81 (A54T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3022845	NM_004356.4(CD81):c.161C>T (p.Ala54Val)	CD81 (A54V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3016100	NM_004356.4(CD81):c.162G>A (p.Ala54=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2984996	NM_004356.4(CD81):c.171C>T (p.Thr57=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1902135	NM_004356.4(CD81):c.177T>C (p.Tyr59=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 710648	NM_004356.4(CD81):c.181+8C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981894	NM_004356.4(CD81):c.181+11A>G	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539120	NM_004356.4(CD81):c.181+18C>G	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899096	NM_004356.4(CD81):c.181+19G>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658774	NM_004356.4(CD81):c.181+19G>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941500	NM_004356.4(CD81):c.181+20C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269202	NM_004356.4(CD81):c.181+240T>C	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2814740	NM_004356.4(CD81):c.182-20G>C	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809663	NM_004356.4(CD81):c.182-18T>C	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551954	NM_004356.4(CD81):c.182-16TC[3]	CD81	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1119284	NM_004356.4(CD81):c.182-15C>G	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940226	NM_004356.4(CD81):c.182-11C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554325	NM_004356.4(CD81):c.182-6C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely 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 2971343	NM_004356.4(CD81):c.182-4C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792517	NM_004356.4(CD81):c.190A>G (p.Ile64Val)	CD81 (I64V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1555413	NM_004356.4(CD81):c.195C>T (p.Leu65=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1546678	NM_004356.4(CD81):c.198C>T (p.Ile66=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1509068	NM_004356.4(CD81):c.199G>A (p.Ala67Thr)	CD81 (A67T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1657224	NM_004356.4(CD81):c.207C>T (p.Gly69=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1922150	NM_004356.4(CD81):c.211G>A (p.Val71Ile)	CD81 (V71I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1669737	NM_004356.4(CD81):c.222C>T (p.Phe74=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2129296	NM_004356.4(CD81):c.227G>C (p.Gly76Ala)	CD81 (G76A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712988	NM_004356.4(CD81):c.232C>T (p.Leu78=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717732	NM_004356.4(CD81):c.242A>G (p.Tyr81Cys)	CD81 (Y81C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725163	NM_004356.4(CD81):c.273G>A (p.Leu91=)	CD81	Single nucleotide variant (synonymous variant)	CD81-related disorder +1 more	GLikely benign
Select item 3008960	NM_004356.4(CD81):c.275G>A (p.Gly92Glu)	CD81 (G21E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972748	NM_004356.4(CD81):c.278C>T (p.Thr93Met)	CD81 (T22M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972981	NM_004356.4(CD81):c.279+8A>G	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165684	NM_004356.4(CD81):c.279+15C>T	CD81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867977	NM_004356.4(CD81):c.279+19C>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2877566	NM_004356.4(CD81):c.280-18G>A	CD81, LOC130005139 (A129T)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 2114244	NM_004356.4(CD81):c.280-10C>T	CD81, LOC130005139	Single nucleotide variant (intron variant)	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

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