ClinVar for MedGen (Select 767600) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 945

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245813	NC_000007.13:g.(?_2946272)_(2957039_?)dup	CARD11	Duplication	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 3245812	NC_000007.13:g.(?_2946272)_(2968352_?)dup	CARD11	Duplication	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 3245810	NC_000007.13:g.(?_2998114)_(2998140_?)dup	CARD11	Duplication	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 3245809	NC_000007.13:g.(?_2954851)_(2955026_?)del	CARD11	Deletion	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GPathogenic
Select item 3245808	NC_000007.13:g.(?_2559496)_(2998140_?)del	AMZ1, BRAT1 +5 more	Deletion	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GPathogenic
Select item 3067919	NM_032415.7(CARD11):c.2894T>C (p.Leu965Pro)	CARD11 (L965P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency	GUncertain significance
Select item 3064501	NM_032415.7(CARD11):c.2644G>A (p.Asp882Asn)	CARD11 (D882N)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency	GUncertain significance
Select item 2954476	NM_032415.7(CARD11):c.2840A>G (p.Glu947Gly)	CARD11 (E947G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2954431	NM_032415.7(CARD11):c.2608-12A>T	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2954293	NM_032415.7(CARD11):c.2487G>T (p.Met829Ile)	CARD11 (M829I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2954180	NM_032415.7(CARD11):c.1661_1663del (p.Pro554del)	CARD11 (P554del)	Deletion (inframe_deletion)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GUncertain significance
Select item 2954021	NM_032415.7(CARD11):c.1737G>A (p.Glu579=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2953987	NM_032415.7(CARD11):c.3261-4C>T	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2953542	NM_032415.7(CARD11):c.3380G>A (p.Ser1127Asn)	CARD11 (S1127N)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2953313	NM_032415.7(CARD11):c.1412G>T (p.Gly471Val)	CARD11 (G471V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2953206	NM_032415.7(CARD11):c.2513C>T (p.Ala838Val)	CARD11 (A838V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2952967	NM_032415.7(CARD11):c.3251A>G (p.Lys1084Arg)	CARD11 (K1084R)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2952836	NM_032415.7(CARD11):c.681C>G (p.Leu227=)	CARD11, CARD11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2952544	NM_032415.7(CARD11):c.1654-18G>T	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2952443	NM_032415.7(CARD11):c.53A>C (p.Glu18Ala)	CARD11 (E18A)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2951827	NM_032415.7(CARD11):c.192T>A (p.Pro64=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2951417	NM_032415.7(CARD11):c.2595G>T (p.Leu865=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2951042	NM_032415.7(CARD11):c.35T>C (p.Met12Thr)	CARD11 (M12T)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2950874	NM_032415.7(CARD11):c.1872A>G (p.Gln624=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2950873	NM_032415.7(CARD11):c.261C>T (p.Gly87=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2950802	NM_032415.7(CARD11):c.998C>T (p.Ala333Val)	CARD11 (A333V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2950544	NM_032415.7(CARD11):c.779G>A (p.Arg260Gln)	CARD11 (R260Q)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2950346	NM_032415.7(CARD11):c.2821T>C (p.Leu941=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2950128	NM_032415.7(CARD11):c.1682T>A (p.Met561Lys)	CARD11 (M561K)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2949963	NM_032415.7(CARD11):c.2582C>G (p.Thr861Ser)	CARD11 (T861S)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2949930	NM_032415.7(CARD11):c.359-1G>A	CARD11, CARD11-AS1	Single nucleotide variant (splice acceptor variant)	BENTA disease +1 more	GLikely pathogenic
Select item 2949764	NM_032415.7(CARD11):c.2564G>C (p.Arg855Pro)	CARD11 (R855P)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2949568	NM_032415.7(CARD11):c.1308G>A (p.Arg436=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2949481	NM_032415.7(CARD11):c.1017+9G>A	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2949159	NM_032415.7(CARD11):c.1807+15G>A	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2948727	NM_032415.7(CARD11):c.359-20T>G	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2948535	NM_032415.7(CARD11):c.3094A>G (p.Asn1032Asp)	CARD11 (N1032D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2948120	NM_032415.7(CARD11):c.1040T>C (p.Leu347Pro)	CARD11 (L347P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2947960	NM_032415.7(CARD11):c.2493C>T (p.Thr831=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2947798	NM_032415.7(CARD11):c.7+18T>C	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2947786	NM_032415.7(CARD11):c.1822C>A (p.Arg608Ser)	CARD11 (R608S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2947742	NM_032415.7(CARD11):c.213C>G (p.Asn71Lys)	CARD11 (N71K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2947443	NM_032415.7(CARD11):c.2704-3del	CARD11	Deletion (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2947338	NM_032415.7(CARD11):c.528C>G (p.Phe176Leu)	CARD11-AS1, CARD11 (F176L)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2947294	NM_032415.7(CARD11):c.3100T>A (p.Phe1034Ile)	CARD11 (F1034I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2947143	NM_032415.7(CARD11):c.3388G>A (p.Glu1130Lys)	CARD11 (E1130K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2947085	NM_032415.7(CARD11):c.3111C>A (p.Ile1037=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2947076	NM_032415.7(CARD11):c.1571-17G>T	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2946923	NM_032415.7(CARD11):c.2076G>A (p.Val692=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2946796	NM_032415.7(CARD11):c.2539C>A (p.Gln847Lys)	CARD11 (Q847K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2946696	NM_032415.7(CARD11):c.2510+19C>G	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2946530	NM_032415.7(CARD11):c.864+1G>C	CARD11	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely pathogenic
Select item 2946093	NM_032415.7(CARD11):c.3096C>T (p.Asn1032=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2946063	NM_032415.7(CARD11):c.8-9G>A	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2945562	NM_032415.7(CARD11):c.3019+7G>T	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2945311	NM_032415.7(CARD11):c.489G>C (p.Lys163Asn)	CARD11, CARD11-AS1 (K163N)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2944982	NM_032415.7(CARD11):c.1940+14G>A	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2943601	NM_032415.7(CARD11):c.2148A>C (p.Glu716Asp)	CARD11 (E716D)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2943590	NM_032415.7(CARD11):c.1458C>A (p.Asp486Glu)	CARD11 (D486E)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2943427	NM_032415.7(CARD11):c.2607+18C>G	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2943063	NM_032415.7(CARD11):c.2423A>G (p.Tyr808Cys)	CARD11 (Y808C)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2942896	NM_032415.7(CARD11):c.2647C>G (p.Pro883Ala)	CARD11 (P883A)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
Select item 2942774	NM_032415.7(CARD11):c.3015G>C (p.Lys1005Asn)	CARD11 (K1005N)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2942582	NM_032415.7(CARD11):c.750T>C (p.Ser250=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2942523	NM_032415.7(CARD11):c.72G>A (p.Glu24=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2942512	NM_032415.7(CARD11):c.1480C>A (p.His494Asn)	CARD11 (H494N)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2942509	NM_032415.7(CARD11):c.252G>A (p.Gly84=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2942348	NM_032415.7(CARD11):c.2823G>T (p.Leu941Phe)	CARD11 (L941F)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2941963	NM_032415.7(CARD11):c.575A>G (p.Asp192Gly)	CARD11, CARD11-AS1 (D192G)	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GUncertain significance
Select item 2941812	NM_032415.7(CARD11):c.1010G>A (p.Arg337Gln)	CARD11 (R337Q)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2941682	NM_032415.7(CARD11):c.864+18G>C	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2941622	NM_032415.7(CARD11):c.3370A>G (p.Met1124Val)	CARD11 (M1124V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
Select item 2941498	NM_032415.7(CARD11):c.3136GCC[1] (p.Ala1047del)	CARD11 (A1047del)	Microsatellite (inframe_deletion)	BENTA disease +1 more	GUncertain significance
Select item 2941343	NM_032415.7(CARD11):c.1893C>G (p.Tyr631Ter)	CARD11 (Y631*)	Single nucleotide variant (nonsense)	BENTA disease +1 more	GPathogenic
Select item 2941212	NM_032415.7(CARD11):c.2683del (p.Leu895fs)	CARD11 (L895fs)	Deletion (frameshift variant)	BENTA disease +1 more	GPathogenic
Select item 2940487	NM_032415.7(CARD11):c.365A>T (p.Glu122Val)	CARD11, CARD11-AS1 (E122V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2940420	NM_032415.7(CARD11):c.3118G>A (p.Ala1040Thr)	CARD11 (A1040T)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2940343	NM_032415.7(CARD11):c.2017G>A (p.Gly673Ser)	CARD11 (G673S)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
Select item 2940191	NM_032415.7(CARD11):c.3421G>A (p.Glu1141Lys)	CARD11 (E1141K)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2939903	NM_032415.7(CARD11):c.778C>T (p.Arg260Trp)	CARD11 (R260W)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2939889	NM_032415.7(CARD11):c.1806T>C (p.Asp602=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GUncertain significance
Select item 2939818	NM_032415.7(CARD11):c.3260+4G>C	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GUncertain significance
Select item 2939484	NM_032415.7(CARD11):c.1236G>C (p.Glu412Asp)	CARD11 (E412D)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2939444	NM_032415.7(CARD11):c.1654-14G>A	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2939155	NM_032415.7(CARD11):c.1940+13A>G	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2939115	NM_032415.7(CARD11):c.1654-12C>G	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2938881	NM_032415.7(CARD11):c.2219T>C (p.Ile740Thr)	CARD11 (I740T)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2938803	NM_032415.7(CARD11):c.2093G>C (p.Gly698Ala)	CARD11 (G698A)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2938790	NM_032415.7(CARD11):c.612A>G (p.Leu204=)	CARD11-AS1, CARD11	Single nucleotide variant (synonymous variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2938435	NM_032415.7(CARD11):c.1852TCC[6] (p.Ser622_His623insSer)	CARD11	Microsatellite (inframe_insertion)	BENTA disease +1 more	GUncertain significance
Select item 2938321	NM_032415.7(CARD11):c.2270-4G>T	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2937938	NM_032415.7(CARD11):c.2028C>T (p.Leu676=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2937748	NM_032415.7(CARD11):c.1755-18C>A	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2937276	NM_032415.7(CARD11):c.1230G>A (p.Leu410=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2937271	NM_032415.7(CARD11):c.996G>A (p.Gln332=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2937259	NM_032415.7(CARD11):c.1665G>A (p.Arg555=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2937229	NM_032415.7(CARD11):c.7+1G>C	CARD11	Single nucleotide variant (splice donor variant)	BENTA disease +1 more	GLikely pathogenic
Select item 2937200	NM_032415.7(CARD11):c.843G>A (p.Gln281=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2937187	NM_032415.7(CARD11):c.1039C>T (p.Leu347=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2937172	NM_032415.7(CARD11):c.2839+5A>G	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GUncertain significance

<< First< Prev

Page of 10