11919[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 1286483	NC_000020.11:g.46118099C>T	CD40, LOC127893450	Single nucleotide variant	not provided	GBenign
Select item 338565	NM_001250.5(CD40):c.-69delT	CD40, LOC127893450	Deletion	not provided +1 more	GBenign/Likely benign
Select item 895885	NM_001250.5(CD40):c.-67G>T	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338566	NM_001250.5(CD40):c.-61G>T	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338567	NM_001250.5(CD40):c.-55C>G	CD40, LOC127893450	Single nucleotide variant	Hyper-IgM syndrome type 3	GUncertain significance
Select item 338568	NM_001250.5(CD40):c.-41C>T	CD40, LOC127893450	Single nucleotide variant	not provided +1 more	GBenign
Select item 338569	NM_001250.6(CD40):c.-1T>C	CD40, LOC127893450	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 2183112	NM_001250.6(CD40):c.1del (p.Met1fs)	CD40, LOC127893450 (M1fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
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 1940014	NM_001250.6(CD40):c.12G>T (p.Leu4=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1401221	NM_001250.6(CD40):c.22T>G (p.Cys8Gly)	CD40, LOC127893450 (C8G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2032027	NM_001250.6(CD40):c.33G>A (p.Trp11Ter)	CD40, LOC127893450 (W11*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2978343	NM_001250.6(CD40):c.48C>T (p.Thr16=)	CD40, LOC127893450	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962050	NM_001250.6(CD40):c.49G>T (p.Ala17Ser)	CD40, LOC127893450 (A17S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723248	NM_001250.6(CD40):c.51+7T>C	CD40, LOC127893450	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2848159	NM_001250.6(CD40):c.51+15C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	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 2990072	NM_001250.6(CD40):c.51+17C>T	CD40, LOC127893450	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 2871277	NM_001250.6(CD40):c.51+20A>G	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245520	NM_001250.6(CD40):c.51+53G>A	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1287702	NM_001250.6(CD40):c.51+71C>T	CD40, LOC127893450	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2999283	NM_001250.6(CD40):c.52-19T>C	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 338570	NM_001250.6(CD40):c.52-15C>T	CD40	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1499829	NM_001250.6(CD40):c.52-13A>G	CD40	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2731898	NM_001250.6(CD40):c.52-10C>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669037	NM_001250.6(CD40):c.54C>T (p.Val18=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1591700	NM_001250.6(CD40):c.54C>G (p.Val18=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1285230	NM_001250.6(CD40):c.57T>A (p.His19Gln)	CD40 (H19Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 745831	NM_001250.6(CD40):c.57T>C (p.His19=)	CD40	Single nucleotide variant (synonymous 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 1523889	NM_001250.6(CD40):c.73G>T (p.Ala25Ser)	CD40 (A25S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2821510	NM_001250.6(CD40):c.78C>T (p.Cys26=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1445470	NM_001250.6(CD40):c.89A>G (p.Gln30Arg)	CD40 (Q30R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 29611	NM_001250.6(CD40):c.95TAA[1] (p.Ile33del)	CD40 (I33del)	Microsatellite (inframe_deletion +1 more)	Hyper-IgM syndrome type 3	GPathogenic
Select item 1502604	NM_001250.6(CD40):c.101A>G (p.Asn34Ser)	CD40 (N34S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2256546	NM_001250.6(CD40):c.116C>T (p.Ser39Phe)	CD40 (S39F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2965251	NM_001250.6(CD40):c.118T>C (p.Leu40=)	CD40	Single nucleotide variant (non-coding transcript 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 2906313	NM_001250.6(CD40):c.123C>T (p.Cys41=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525308	NM_001250.6(CD40):c.129A>G (p.Pro43=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2977259	NM_001250.6(CD40):c.130+14C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260157	NM_001250.6(CD40):c.131-22C>G	CD40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902786	NM_001250.6(CD40):c.131-11A>C	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548713	NM_001250.6(CD40):c.131-10T>C	CD40	Single nucleotide variant (intron variant)	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 2693531	NM_001250.6(CD40):c.132A>T (p.Gly44=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1507855	NM_001250.6(CD40):c.146G>A (p.Ser49Asn)	CD40 (S49N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1586111	NM_001250.6(CD40):c.147T>C (p.Ser49=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2024847	NM_001250.6(CD40):c.157G>T (p.Glu53Ter)	CD40 (E53*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 1907044	NM_001250.6(CD40):c.165T>C (p.Thr55=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1956053	NM_001250.6(CD40):c.168A>G (p.Glu56=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2138350	NM_001250.6(CD40):c.170C>T (p.Thr57Met)	CD40 (T57M)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GConflicting classifications of pathogenicity
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 2961127	NM_001250.6(CD40):c.186C>T (p.Cys62=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2193326	NM_001250.6(CD40):c.187G>A (p.Gly63Ser)	CD40 (G63S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088096	NM_001250.6(CD40):c.187G>C (p.Gly63Arg)	CD40 (G63R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 632741	NM_001250.6(CD40):c.188G>A (p.Gly63Asp)	CD40 (G63D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1517909	NM_001250.6(CD40):c.195C>T (p.Ser65=)	CD40	Single nucleotide variant (synonymous 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 2178723	NM_001250.6(CD40):c.204A>G (p.Leu68=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1442511	NM_001250.6(CD40):c.208A>G (p.Thr70Ala)	CD40 (T70A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2849194	NM_001250.6(CD40):c.240C>T (p.His80=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 17749	NM_001250.6(CD40):c.247T>C (p.Cys83Arg)	CD40 (C83R)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 3	GPathogenic
Select item 896159	NM_001250.6(CD40):c.249C>T (p.Cys83=)	CD40	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgM syndrome type 3 +1 more	GConflicting classifications of pathogenicity
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 2101211	NM_001250.6(CD40):c.254C>T (p.Pro85Leu)	CD40 (P85L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 439466	NM_001250.6(CD40):c.256+2T>C	CD40	Single nucleotide variant (splice donor variant)	Immunodeficiency, X-linked, with hyper-IgM +2 more	GConflicting classifications of pathogenicity
Select item 1483826	NM_001250.6(CD40):c.256+4C>T	CD40	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2023728	NM_001250.6(CD40):c.256+5G>A	CD40	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 728215	NM_001250.6(CD40):c.256+7G>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 338571	NM_001250.6(CD40):c.256+8C>T	CD40	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1622282	NM_001250.6(CD40):c.256+14T>C	CD40	Single nucleotide variant (intron variant)	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 3010299	NM_001250.6(CD40):c.256+20A>G	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275290	NM_001250.6(CD40):c.256+109G>A	CD40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2832096	NM_001250.6(CD40):c.257-19C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926472	NM_001250.6(CD40):c.257-16G>A	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004726	NM_001250.6(CD40):c.257-13C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1395323	NM_001250.6(CD40):c.257-7_257-3del	CD40	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2787512	NM_001250.6(CD40):c.257-8C>T	CD40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 17750	NM_001250.6(CD40):c.257-2A>T	CD40	Single nucleotide variant (splice acceptor variant)	Hyper-IgM syndrome type 3	GPathogenic
Select item 1935715	NM_001250.6(CD40):c.259C>G (p.Leu87Val)	CD40 (L87V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940970	NM_001250.6(CD40):c.268C>T (p.Arg90Trp)	CD40 (R90W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1438066	NM_001250.6(CD40):c.269G>A (p.Arg90Gln)	CD40 (R90Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2290696	NM_001250.6(CD40):c.272T>C (p.Val91Ala)	CD40 (V91A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2794271	NM_001250.6(CD40):c.291A>G (p.Ser97=)	CD40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168407	NM_001250.6(CD40):c.293A>T (p.Glu98Val)	CD40 (E98V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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