ClinVar for Gene (Select 958) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248346	NC_000020.10:g.(?_44577592)_(45362473_?)del	CD40, CDH22 +12 more	Deletion	not provided	GPathogenic
Select item 3248326	NC_000020.10:g.(?_44756757)_(44757679_?)del	CD40	Deletion	not provided	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3248233	NC_000020.10:g.(?_44519965)_(44751017_?)del	CD40, CTSA +6 more	Deletion	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 3021662	NM_001250.6(CD40):c.647-14_647-3del	CD40	Deletion (intron variant)	not provided	GLikely benign
Select item 3019118	NM_001250.6(CD40):c.24C>T (p.Cys8=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011801	NM_001250.6(CD40):c.132A>G (p.Gly44=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010299	NM_001250.6(CD40):c.256+20A>G	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006276	NM_001250.6(CD40):c.252C>T (p.Asp84=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004087	NM_001250.6(CD40):c.171G>A (p.Thr57=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002619	NM_001250.6(CD40):c.546T>C (p.Thr182=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2999283	NM_001250.6(CD40):c.52-19T>C	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998782	NM_001250.6(CD40):c.404-13C>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998083	NM_001250.6(CD40):c.498-14G>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997848	NM_001250.6(CD40):c.441A>C (p.Pro147=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997323	NM_001250.6(CD40):c.403+18G>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995681	NM_001250.6(CD40):c.404-4C>G	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990729	NM_001250.6(CD40):c.336G>A (p.Thr112=)	CD40	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2990072	NM_001250.6(CD40):c.51+17C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989781	NM_001250.6(CD40):c.366C>T (p.His122=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988202	NM_001250.6(CD40):c.237G>A (p.Gln79=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987193	NM_001250.6(CD40):c.429C>T (p.Cys143=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984060	NM_001250.6(CD40):c.675+19C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983843	NM_001250.6(CD40):c.675+9C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983432	NM_001250.6(CD40):c.647-18T>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981521	NM_001250.6(CD40):c.647-20_647-19insC	CD40	Insertion (intron variant)	not provided	GLikely benign
Select item 2980859	NM_001250.6(CD40):c.378G>A (p.Ser126=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980440	NM_001250.6(CD40):c.646+8C>T	CD40	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2978343	NM_001250.6(CD40):c.48C>T (p.Thr16=)	CD40, LOC127893450	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2977935	NM_001250.6(CD40):c.465A>G (p.Ser155=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977259	NM_001250.6(CD40):c.130+14C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975241	NM_001250.6(CD40):c.75A>G (p.Ala25=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975126	NM_001250.6(CD40):c.676-4C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972972	NM_001250.6(CD40):c.459T>C (p.Asn153=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972183	NM_001250.6(CD40):c.336G>C (p.Thr112=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965251	NM_001250.6(CD40):c.118T>C (p.Leu40=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961127	NM_001250.6(CD40):c.186C>T (p.Cys62=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960911	NM_001250.6(CD40):c.676-14C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906659	NM_001250.6(CD40):c.165T>G (p.Thr55=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906313	NM_001250.6(CD40):c.123C>T (p.Cys41=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902860	NM_001250.6(CD40):c.560-4C>T	CD40	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2897219	NM_001250.6(CD40):c.201C>T (p.Phe67=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2888426	NM_001250.6(CD40):c.288C>A (p.Thr96=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885132	NM_001250.6(CD40):c.120G>A (p.Leu40=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877533	NM_001250.6(CD40):c.646+17G>C	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877380	NM_001250.6(CD40):c.774C>T (p.Cys258=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2873687	NM_001250.6(CD40):c.256+16G>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872243	NM_001250.6(CD40):c.497+14T>C	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871277	NM_001250.6(CD40):c.51+20A>G	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854964	NM_001250.6(CD40):c.94C>T (p.Leu32=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852410	NM_001250.6(CD40):c.498-30_498-11del	CD40	Deletion (intron variant)	not provided	GLikely benign
Select item 2849194	NM_001250.6(CD40):c.240C>T (p.His80=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848159	NM_001250.6(CD40):c.51+15C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848063	NM_001250.6(CD40):c.675+12del	CD40	Deletion (intron variant)	not provided	GBenign
Select item 2846260	NM_001250.6(CD40):c.438C>T (p.Cys146=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844969	NM_001250.6(CD40):c.810C>T (p.Arg270=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2843899	NM_001250.6(CD40):c.819G>T (p.Val273=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2840401	NM_001250.6(CD40):c.404-20C>G	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839777	NM_001250.6(CD40):c.560-20T>G	CD40	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2837186	NM_001250.6(CD40):c.69C>T (p.Pro23=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2836637	NM_001250.6(CD40):c.675+18A>G	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835301	NM_001250.6(CD40):c.647-16_647-3del	CD40	Deletion (intron variant)	not provided	GLikely benign
Select item 2834140	NM_001250.6(CD40):c.156A>T (p.Thr52=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833606	NM_001250.6(CD40):c.9T>C (p.Arg3=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2832516	NM_001250.6(CD40):c.375C>T (p.Cys125=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2832096	NM_001250.6(CD40):c.257-19C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824883	NM_001250.6(CD40):c.51+19G>A	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823824	NM_001250.6(CD40):c.45G>A (p.Leu15=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821510	NM_001250.6(CD40):c.78C>T (p.Cys26=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818861	NM_001250.6(CD40):c.497+1G>A	CD40	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2808767	NM_001250.6(CD40):c.525A>G (p.Gln175=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2804798	NM_001250.6(CD40):c.782T>C (p.Val261Ala)	CD40 (V213A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2794849	NM_001250.6(CD40):c.687C>G (p.Pro229=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2794271	NM_001250.6(CD40):c.291A>G (p.Ser97=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2791833	NM_001250.6(CD40):c.559+12A>G	CD40 (T191A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2787512	NM_001250.6(CD40):c.257-8C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785002	NM_001250.6(CD40):c.646+1G>A	CD40 (S164N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2784491	NM_001250.6(CD40):c.372A>G (p.Ser124=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784422	NM_001250.6(CD40):c.675+19C>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782192	NM_001250.6(CD40):c.771A>C (p.Gly257=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2779787	NM_001250.6(CD40):c.51+16C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778527	NM_001250.6(CD40):c.404-10C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777937	NM_001250.6(CD40):c.403+11C>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777170	NM_001250.6(CD40):c.445G>A (p.Gly149Ser)	CD40 (G149S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2772369	NM_001250.6(CD40):c.573G>A (p.Arg191=)	CD40 (A205T +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2771033	NM_001250.6(CD40):c.336G>T (p.Thr112=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2764974	NM_001250.6(CD40):c.396G>A (p.Lys132=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2753055	NM_001250.6(CD40):c.676-13C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748033	NM_001250.6(CD40):c.630G>A (p.Leu210=)	CD40 (G224S +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2744019	NM_001250.6(CD40):c.675+14G>C	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743469	NM_001250.6(CD40):c.384C>A (p.Gly128=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2740664	NM_001250.6(CD40):c.723T>C (p.Asp241=)	CD40	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2731898	NM_001250.6(CD40):c.52-10C>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723480	NM_001250.6(CD40):c.734C>T (p.Ser245Phe)	CD40 (S193F +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2721205	NM_001250.6(CD40):c.646+7C>T	CD40 (S218F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2705142	NM_001250.6(CD40):c.468T>G (p.Ser156=)	CD40	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2697363	NM_001250.6(CD40):c.27C>G (p.Val9=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2696572	NM_001250.6(CD40):c.675+19C>G	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693531	NM_001250.6(CD40):c.132A>T (p.Gly44=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652366	NM_001250.6(CD40):c.560-119C>A	CD40	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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