CD40LG[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326026	NC_000023.11:g.136648063del	CD40LG	Deletion	not provided	GLikely benign
Select item 2661522	NC_000023.11:g.136648058_136648059insC	CD40LG	Insertion	not provided	GLikely benign
Select item 439467	NM_000074.2(CD40LG):c.-191A>C	CD40LG	Single nucleotide variant	not specified +2 more	GBenign/Likely benign
Select item 439468	NM_000074.2(CD40LG):c.-189A>C	CD40LG	Single nucleotide variant	not specified	GLikely benign
Select item 3038668	NM_000074.3(CD40LG):c.-6C>T	CD40LG	Single nucleotide variant (5 prime UTR variant)	CD40LG-related disorder	GLikely benign
Select item 760534	NM_000074.3(CD40LG):c.6C>T (p.Ile2=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GBenign
Select item 659718	NM_000074.3(CD40LG):c.7G>A (p.Glu3Lys)	CD40LG (E3K)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 1071618	NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter)	CD40LG (Y5*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1	GPathogenic
Select item 860054	NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe)	CD40LG (S9F)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 1166665	NM_000074.3(CD40LG):c.30C>G (p.Pro10=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GBenign
Select item 35812	NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)	CD40LG (R11*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 746752	NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln)	CD40LG (R11Q)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1 +1 more	GBenign/Likely benign
Select item 1896557	NM_000074.3(CD40LG):c.38C>A (p.Ala13Glu)	CD40LG (A13E)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 287380	NM_000074.3(CD40LG):c.38C>T (p.Ala13Val)	CD40LG (A13V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1169681	NM_000074.3(CD40LG):c.39G>A (p.Ala13=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GBenign
Select item 1996844	NM_000074.3(CD40LG):c.43del (p.Thr15fs)	CD40LG (T15fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1024336	NM_000074.3(CD40LG):c.49C>G (p.Leu17Val)	CD40LG (L17V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2478229	NM_000074.3(CD40LG):c.56T>G (p.Ile19Ser)	CD40LG (I19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2083129	NM_000074.3(CD40LG):c.60C>G (p.Ser20Arg)	CD40LG (S20R)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 1040297	NM_000074.3(CD40LG):c.73A>G (p.Met25Val)	CD40LG (M25V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 530673	NM_000074.3(CD40LG):c.81A>G (p.Leu27=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GBenign
Select item 827696	NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn)	CD40LG (I33N)	Single nucleotide variant (missense variant)	Common variable immunodeficiency	GUncertain significance
Select item 1503923	NM_000074.3(CD40LG):c.107T>C (p.Met36Thr)	CD40LG (M36T)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 422070	NM_000074.3(CD40LG):c.107T>A (p.Met36Lys)	CD40LG (M36K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 11162	NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)	CD40LG (M36R)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GPathogenic/Likely pathogenic
Select item 854395	NM_000074.3(CD40LG):c.108G>A (p.Met36Ile)	CD40LG (M36I)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2819043	NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)	CD40LG (G38fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 749340	NM_000074.3(CD40LG):c.114G>A (p.Gly38=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GBenign
Select item 1063116	NM_000074.3(CD40LG):c.122T>C (p.Leu41Pro)	CD40LG (L41P)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 962343	NM_000074.3(CD40LG):c.133del (p.Tyr45fs)	CD40LG (Y45fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2760510	NM_000074.3(CD40LG):c.138del (p.His47fs)	CD40LG (H47fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2133348	NM_000074.3(CD40LG):c.137T>G (p.Leu46Arg)	CD40LG (L46R)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 518406	NM_000074.3(CD40LG):c.148T>C (p.Leu50=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1 +2 more	GBenign
Select item 2138725	NM_000074.3(CD40LG):c.156+1G>A	CD40LG	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1381599	NM_000074.3(CD40LG):c.156+2T>C	CD40LG	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1360452	NM_000074.3(CD40LG):c.156+4A>G	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2834744	NM_000074.3(CD40LG):c.156+7T>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1611068	NM_000074.3(CD40LG):c.156+11C>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2735337	NM_000074.3(CD40LG):c.156+12C>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1169084	NM_000074.3(CD40LG):c.156+17G>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GBenign
Select item 2992138	NM_000074.3(CD40LG):c.156+18C>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1282887	NM_000074.3(CD40LG):c.157-277G>A	CD40LG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 530674	NC_000023.11:g.(?_136650246)_(136654450_?)del	CD40LG	Deletion	Hyper-IgM syndrome type 1	GLikely pathogenic
Select item 2860817	NM_000074.3(CD40LG):c.157-19C>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2889110	NM_000074.3(CD40LG):c.157-16T>C	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2027401	NM_000074.3(CD40LG):c.157-15G>C	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1687523	NM_000074.3(CD40LG):c.158_161del	CD40LG	Microsatellite (splice acceptor variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1706555	NM_000074.3(CD40LG):c.161_162insG (p.Asp55fs)	CD40LG (D55fs)	Insertion (frameshift variant)	not specified	GPathogenic
Select item 3015641	NM_000074.3(CD40LG):c.165T>C (p.Asp55=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1327990	NM_000074.3(CD40LG):c.166G>T (p.Glu56Ter)	CD40LG (E56*)	Single nucleotide variant (nonsense)	Immunodeficiency, X-linked, with hyper-IgM	GPathogenic
Select item 2848687	NM_000074.3(CD40LG):c.180T>C (p.His60=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 11169	NM_000074.3(CD40LG):c.189dup (p.Val64fs)	CD40LG (V64fs)	Duplication (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 35811	NM_000074.3(CD40LG):c.189del (p.Phe63fs)	CD40LG (F63fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GLikely pathogenic
Select item 2976625	NM_000074.3(CD40LG):c.191T>C (p.Val64Ala)	CD40LG (V64A)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GBenign
Select item 1378108	NM_000074.3(CD40LG):c.203C>T (p.Thr68Met)	CD40LG (T68M)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 1164615	NM_000074.3(CD40LG):c.204G>A (p.Thr68=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GBenign
Select item 636391	NM_000074.3(CD40LG):c.208_209del (p.Gln70fs)	CD40LG (Q70fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2138726	NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)	CD40LG (Q70*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1364894	NM_000074.3(CD40LG):c.208C>G (p.Gln70Glu)	CD40LG (Q70E)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 449464	NM_000074.3(CD40LG):c.216C>A (p.Cys72Ter)	CD40LG (C72*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2822667	NM_000074.3(CD40LG):c.222A>G (p.Thr74=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1803793	NM_000074.3(CD40LG):c.229del (p.Arg77fs)	CD40LG (R77fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 752576	NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro)	CD40LG (S78P)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GBenign
Select item 1937017	NM_000074.3(CD40LG):c.237A>G (p.Leu79=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2788528	NM_000074.3(CD40LG):c.249C>T (p.Asn83=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 439469	NM_000074.3(CD40LG):c.256G>A (p.Glu86Lys)	CD40LG (E86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2055630	NM_000074.3(CD40LG):c.264A>G (p.Lys88=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1997026	NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)	CD40LG (Q90*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2701681	NM_000074.3(CD40LG):c.270G>A (p.Gln90=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2700299	NM_000074.3(CD40LG):c.270G>C (p.Gln90His)	CD40LG (Q90H)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 633147	NM_000074.3(CD40LG):c.288+1G>A	CD40LG	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 1	GLikely pathogenic
Select item 1060248	NM_000074.3(CD40LG):c.288+6C>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 1657603	NM_000074.3(CD40LG):c.288+20del	CD40LG	Deletion (intron variant)	Hyper-IgM syndrome type 1	GBenign
Select item 1268645	NM_000074.3(CD40LG):c.288+188dup	CD40LG	Duplication (intron variant)	not provided	GBenign
Select item 1288336	NM_000074.3(CD40LG):c.289-327T>C	CD40LG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3050209	NM_000074.3(CD40LG):c.289-37_289-36del	CD40LG	Deletion (intron variant)	CD40LG-related disorder	GLikely benign
Select item 2698717	NM_000074.3(CD40LG):c.289-27G>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 639868	NC_000023.11:g.(?_136654353)_(136654450_?)del	CD40LG	Deletion	Hyper-IgM syndrome type 1	GPathogenic
Select item 2966593	NM_000074.3(CD40LG):c.289-19G>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1649331	NM_000074.3(CD40LG):c.289-19G>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1631465	NM_000074.3(CD40LG):c.289-18C>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1582469	NM_000074.3(CD40LG):c.289-18C>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2013825	NM_000074.3(CD40LG):c.289-17A>G	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2863222	NM_000074.3(CD40LG):c.289-14G>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1617868	NM_000074.3(CD40LG):c.289-14G>C	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2775756	NM_000074.3(CD40LG):c.289-7A>G	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1195319	NM_000074.3(CD40LG):c.289-2A>C	CD40LG	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1423116	NM_000074.3(CD40LG):c.289-1G>A	CD40LG	Single nucleotide variant (splice acceptor variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1349911	NM_000074.3(CD40LG):c.290A>G (p.Asp97Gly)	CD40LG (D97G)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2039120	NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)	CD40LG (L100*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1	GPathogenic
Select item 566114	NM_000074.3(CD40LG):c.304_314del (p.Lys102fs)	CD40LG (K102fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1586819	NM_000074.3(CD40LG):c.312G>A (p.Glu104=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2768419	NM_000074.3(CD40LG):c.314C>A (p.Thr105Lys)	CD40LG (T105K)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 1166502	NM_000074.3(CD40LG):c.314C>T (p.Thr105Met)	CD40LG (T105M)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GBenign
Select item 1164806	NM_000074.3(CD40LG):c.315G>A (p.Thr105=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1 +1 more	GBenign/Likely benign
Select item 568935	NM_000074.3(CD40LG):c.322_325del (p.Glu108fs)	CD40LG (E108fs)	Microsatellite (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1650645	NM_000074.3(CD40LG):c.327C>A (p.Asn109Lys)	CD40LG (N109K)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 575442	NM_000074.3(CD40LG):c.330C>A (p.Ser110Arg)	CD40LG (S110R)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2443091	NM_000074.3(CD40LG):c.335A>G (p.Glu112Gly)	CD40LG (E112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2092047	NM_000074.3(CD40LG):c.340del (p.Gln114fs)	CD40LG (Q114fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic

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