ClinVar for MedGen (Select 96019) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 238

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3011754	NM_000074.3(CD40LG):c.603C>T (p.Phe201=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
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 2981264	NM_000074.3(CD40LG):c.552G>A (p.Ser184=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
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 2966593	NM_000074.3(CD40LG):c.289-19G>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2918241	NM_000074.3(CD40LG):c.747T>C (p.His249=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2912969	NM_000074.3(CD40LG):c.594dup (p.Gly199fs)	CD40LG (G199fs)	Duplication (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2902190	NM_000074.3(CD40LG):c.504C>T (p.Leu168=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2899339	NM_000074.3(CD40LG):c.519C>A (p.Ala173=)	CD40LG	Single nucleotide variant (synonymous 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 2888571	NM_000074.3(CD40LG):c.347-6T>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2883350	NM_000074.3(CD40LG):c.691T>C (p.Leu231=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2877579	NM_000074.3(CD40LG):c.633C>A (p.Thr211=)	CD40LG	Single nucleotide variant (synonymous 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 2860817	NM_000074.3(CD40LG):c.157-19C>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2856459	NM_000074.3(CD40LG):c.597T>C (p.Gly199=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2854462	NM_000074.3(CD40LG):c.470A>C (p.Asn157Thr)	CD40LG (N157T)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
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 2847637	NM_000074.3(CD40LG):c.518C>T (p.Ala173Val)	CD40LG (A173V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2846509	NM_000074.3(CD40LG):c.698C>T (p.Pro233Leu)	CD40LG (P233L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GBenign
Select item 2841571	NM_000074.3(CD40LG):c.720T>C (p.Asn240=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2837190	NM_000074.3(CD40LG):c.410-15C>G	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2836339	NM_000074.3(CD40LG):c.347-14T>C	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2835837	NM_000074.3(CD40LG):c.589T>G (p.Ser197Ala)	CD40LG (S197A)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GBenign
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 2831807	NM_000074.3(CD40LG):c.750C>A (p.Gly250=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
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 2819043	NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)	CD40LG (G38fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2804093	NM_000074.3(CD40LG):c.525C>T (p.Val175=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2799671	NM_000074.3(CD40LG):c.388G>A (p.Ala130Thr)	CD40LG (A130T)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GBenign
Select item 2790886	NM_000074.3(CD40LG):c.753T>A (p.Thr251=)	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 2787934	NM_000074.3(CD40LG):c.667A>G (p.Ile223Val)	CD40LG (I223V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2787305	NM_000074.3(CD40LG):c.516T>C (p.Tyr172=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2783613	NM_000074.3(CD40LG):c.346+12A>G	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2782806	NM_000074.3(CD40LG):c.618C>G (p.Leu206=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2782618	NM_000074.3(CD40LG):c.346+16G>T	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 2772307	NM_000074.3(CD40LG):c.347-18T>A	CD40LG	Single nucleotide variant (intron 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 2768403	NM_000074.3(CD40LG):c.514T>G (p.Tyr172Asp)	CD40LG (Y172D)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2764445	NM_000074.3(CD40LG):c.692T>G (p.Leu231Trp)	CD40LG (L231W)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2760510	NM_000074.3(CD40LG):c.138del (p.His47fs)	CD40LG (H47fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2756893	NM_000074.3(CD40LG):c.708G>C (p.Ser236=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2753607	NM_000074.3(CD40LG):c.375T>C (p.His125=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2745837	NM_000074.3(CD40LG):c.701del (p.Gly234fs)	CD40LG (G234fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2742863	NM_000074.3(CD40LG):c.346+17C>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2737376	NM_000074.3(CD40LG):c.500G>T (p.Gly167Val)	CD40LG (G167V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2737375	NM_000074.3(CD40LG):c.409+2T>C	CD40LG	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 1	GPathogenic
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 2719102	NM_000074.3(CD40LG):c.346+14T>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
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 2698717	NM_000074.3(CD40LG):c.289-27G>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2695333	NM_000074.3(CD40LG):c.740T>C (p.Val247Ala)	CD40LG (V247A)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2695152	NM_000074.3(CD40LG):c.750C>T (p.Gly250=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2572456	NM_000074.3(CD40LG):c.634del (p.His212fs)	CD40LG (H212fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GLikely pathogenic
Select item 2502340	NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)	CD40LG (G257V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GLikely pathogenic
Select item 2439819	NM_000074.3(CD40LG):c.762G>C (p.Thr254=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2431619	NM_000074.3(CD40LG):c.654C>A (p.Cys218Ter)	CD40LG (C218*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2431549	NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)	CD40LG (F229L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GLikely pathogenic
Select item 2422304	NC_000023.10:g.(?_135730408)_(135741574_?)dup	CD40LG	Duplication	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2138733	NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)	CD40LG (G252D)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GConflicting classifications of pathogenicity
Select item 2138732	NM_000074.3(CD40LG):c.527C>T (p.Thr176Ile)	CD40LG (T176I)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2138731	NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)	CD40LG (Y172C)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GLikely pathogenic
Select item 2138730	NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)	CD40LG (G167R)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2138729	NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)	CD40LG (W140C)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2138728	NM_000074.3(CD40LG):c.347-915A>T	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GUncertain significance
Select item 2138727	NM_000074.3(CD40LG):c.346+1G>T	CD40LG	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 1	GPathogenic
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 2138725	NM_000074.3(CD40LG):c.156+1G>A	CD40LG	Single nucleotide variant (splice donor 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 2111413	NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)	CD40LG (Y170*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2111246	NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)	CD40LG (Y146*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2092047	NM_000074.3(CD40LG):c.340del (p.Gln114fs)	CD40LG (Q114fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2090328	NM_000074.3(CD40LG):c.512T>A (p.Ile171Asn)	CD40LG (I171N)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	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 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 2054209	NM_000074.3(CD40LG):c.756del (p.Phe253fs)	CD40LG (F253fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2047921	NM_000074.3(CD40LG):c.346+5_346+11dup	CD40LG	Duplication (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
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 2027401	NM_000074.3(CD40LG):c.157-15G>C	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 2025587	NM_000074.3(CD40LG):c.347-18T>C	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 2013065	NM_000074.3(CD40LG):c.431del (p.Gly144fs)	CD40LG (G144fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2006977	NM_000074.3(CD40LG):c.479A>C (p.Gln160Pro)	CD40LG (Q160P)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
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 1996844	NM_000074.3(CD40LG):c.43del (p.Thr15fs)	CD40LG (T15fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1982375	NM_000074.3(CD40LG):c.673T>C (p.Leu225=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1974524	NM_000074.3(CD40LG):c.410-5A>G	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
Select item 1954068	NM_000074.3(CD40LG):c.410-7G>A	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1	GLikely benign
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 1921551	NM_000074.3(CD40LG):c.642C>T (p.Ser214=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GBenign
Select item 1911308	NM_000074.3(CD40LG):c.643G>A (p.Ala215Thr)	CD40LG (A215T)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1	GUncertain significance
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 1803793	NM_000074.3(CD40LG):c.229del (p.Arg77fs)	CD40LG (R77fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1687523	NM_000074.3(CD40LG):c.158_161del	CD40LG	Microsatellite (splice acceptor variant)	Hyper-IgM syndrome type 1	GPathogenic
Select item 1657603	NM_000074.3(CD40LG):c.288+20del	CD40LG	Deletion (intron variant)	Hyper-IgM syndrome type 1	GBenign
Select item 1655255	NM_000074.3(CD40LG):c.654C>T (p.Cys218=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1	GLikely benign

<< First< Prev

Page of 3