ClinVar for Gene (Select 975) - ClinVar - NCBI

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	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 3244544	NC_000011.9:g.(?_2233574)_(2499178_?)dup	ASCL2, C11orf21 +5 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3052378	NM_004356.4(CD81):c.*7G>A	CD81	Single nucleotide variant (3 prime UTR variant)	CD81-related disorder	GLikely benign
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 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 3016722	NM_004356.4(CD81):c.280-4C>T	CD81, LOC130005139	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3012609	NM_004356.4(CD81):c.676C>T (p.Leu226=)	CD81	Single nucleotide variant (synonymous variant)	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 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 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 3002426	NM_004356.4(CD81):c.445A>G (p.Thr149Ala)	CD81 (T78A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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
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 2986597	NM_004356.4(CD81):c.649-6C>T	CD81	Single nucleotide variant (intron variant)	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 2982292	NM_004356.4(CD81):c.660G>A (p.Met220Ile)	CD81 (M148I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981960	NM_004356.4(CD81):c.460-10C>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 2980140	NM_004356.4(CD81):c.561+7G>C	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978560	NM_004356.4(CD81):c.355-10C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975905	NM_004356.4(CD81):c.460-8C>G	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975253	NM_004356.4(CD81):c.375G>T (p.Gln125His)	CD81 (Q125H +2 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 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 2971343	NM_004356.4(CD81):c.182-4C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971187	NM_004356.4(CD81):c.402C>T (p.Ala134=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969237	NM_004356.4(CD81):c.562-20G>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958053	NM_004356.4(CD81):c.561+4C>T	CD81	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2905447	NM_004356.4(CD81):c.474C>T (p.Gly158=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904837	NM_004356.4(CD81):c.123C>T (p.Thr41=)	CD81	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2897905	NM_004356.4(CD81):c.530C>T (p.Ser177Leu)	CD81 (S177L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2867977	NM_004356.4(CD81):c.279+19C>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2865788	NM_004356.4(CD81):c.566A>T (p.Asp189Val)	CD81 (D118V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851446	NM_004356.4(CD81):c.703G>C (p.Val235Leu)	CD81 (V163L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851027	NM_004356.4(CD81):c.561+8A>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837179	NM_004356.4(CD81):c.354+19G>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827606	NM_004356.4(CD81):c.648+15G>C	CD81	Single nucleotide variant (intron variant)	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 2826423	NM_004356.4(CD81):c.342C>T (p.Val114=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826148	NM_004356.4(CD81):c.145C>A (p.Leu49Met)	CD81 (L49M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2822983	NM_004356.4(CD81):c.599G>A (p.Gly200Glu)	CD81 (G128E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820187	NM_004356.4(CD81):c.562-18G>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819001	NM_004356.4(CD81):c.582C>G (p.Ile194Met)	CD81 (I123M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814740	NM_004356.4(CD81):c.182-20G>C	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810319	NM_004356.4(CD81):c.508del (p.Leu170fs)	CD81 (L170fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2809663	NM_004356.4(CD81):c.182-18T>C	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2798764	NM_004356.4(CD81):c.291C>T (p.Cys97=)	LOC130005139, CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794246	NM_004356.4(CD81):c.459+4C>G	CD81	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2791699	NM_004356.4(CD81):c.444G>T (p.Lys148Asn)	CD81 (K148N +2 more)	Single nucleotide variant (missense variant)	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 2777633	NM_004356.4(CD81):c.67-9C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765783	NM_004356.4(CD81):c.460-18C>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721553	NM_004356.4(CD81):c.588C>A (p.Asp196Glu)	CD81 (D125E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2714005	NM_004356.4(CD81):c.402C>G (p.Ala134=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712988	NM_004356.4(CD81):c.232C>T (p.Leu78=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710919	NM_004356.4(CD81):c.429C>T (p.Ala143=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706333	NM_004356.4(CD81):c.591C>G (p.Leu197=)	CD81	Single nucleotide variant (synonymous variant)	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 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641355	NM_004356.4(CD81):c.585T>C (p.Asp195=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2421672	NM_004356.4(CD81):c.579G>A (p.Lys193=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 2180588	NM_004356.4(CD81):c.325G>A (p.Gly109Ser)	CD81 (G109S +1 more)	Single nucleotide variant (missense variant)	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 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 2121175	NM_004356.4(CD81):c.522G>A (p.Leu174=)	CD81	Single nucleotide variant (synonymous variant)	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 2116981	NM_004356.4(CD81):c.562-16C>T	CD81	Single nucleotide variant (intron variant)	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 2104540	NM_004356.4(CD81):c.460-11G>A	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096085	NM_004356.4(CD81):c.648+17G>T	CD81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091732	NM_004356.4(CD81):c.600G>A (p.Gly200=)	CD81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089003	NM_004356.4(CD81):c.670A>G (p.Met224Val)	CD81 (M153V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085527	NM_004356.4(CD81):c.511A>G (p.Lys171Glu)	CD81 (K171E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061114	NM_004356.4(CD81):c.473G>A (p.Gly158Asp)	CD81 (G158D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047355	NM_004356.4(CD81):c.552C>A (p.Asn184Lys)	CD81 (N184K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013832	NM_004356.4(CD81):c.562-7C>G	CD81	Single nucleotide variant (intron variant)	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 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 2008157	NM_004356.4(CD81):c.698G>A (p.Ser233Asn)	CD81 (S162N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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