"Ambry Genetics"[submitter] AND "CARD11"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615168	NM_032415.7(CARD11):c.3377G>A (p.Gly1126Asp)	CARD11 (G1126D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395814	NM_032415.7(CARD11):c.3277C>T (p.Pro1093Ser)	CARD11 (P1093S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137296	NM_032415.7(CARD11):c.3272C>T (p.Pro1091Leu)	CARD11 (P1091L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 948065	NM_032415.7(CARD11):c.3130G>T (p.Ala1044Ser)	CARD11 (A1044S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 838583	NM_032415.7(CARD11):c.3113C>T (p.Ala1038Val)	CARD11 (A1038V)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GBenign/Likely benign
Select item 1383779	NM_032415.7(CARD11):c.3112G>A (p.Ala1038Thr)	CARD11 (A1038T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 540973	NM_032415.7(CARD11):c.3095A>G (p.Asn1032Ser)	CARD11 (N1032S)	Single nucleotide variant (missense variant)	BENTA disease +3 more	GUncertain significance
Select item 2394813	NM_032415.7(CARD11):c.3021T>G (p.Asp1007Glu)	CARD11 (D1007E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2471700	NM_032415.7(CARD11):c.2869A>G (p.Asn957Asp)	CARD11 (N957D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2116250	NM_032415.7(CARD11):c.2853G>C (p.Glu951Asp)	CARD11 (E951D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GUncertain significance
Select item 2467787	NM_032415.7(CARD11):c.2747A>G (p.Asn916Ser)	CARD11 (N916S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137295	NM_032415.7(CARD11):c.2737A>G (p.Met913Val)	CARD11 (M913V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 968672	NM_032415.7(CARD11):c.2606G>A (p.Arg869Gln)	CARD11 (R869Q)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GUncertain significance
Select item 1375781	NM_032415.7(CARD11):c.2537T>C (p.Leu846Pro)	CARD11 (L846P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2213837	NM_032415.7(CARD11):c.2398G>A (p.Val800Ile)	CARD11 (V800I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493687	NM_032415.7(CARD11):c.2320G>A (p.Asp774Asn)	CARD11 (D774N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538956	NM_032415.7(CARD11):c.2239G>T (p.Val747Phe)	CARD11 (V747F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2922562	NM_032415.7(CARD11):c.2231G>A (p.Ser744Asn)	CARD11 (S744N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 133792	NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)	CARD11 (R707C)	Single nucleotide variant (missense variant)	BENTA disease +3 more	GConflicting classifications of pathogenicity
Select item 1022329	NM_032415.7(CARD11):c.2093G>A (p.Gly698Asp)	CARD11 (G698D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +3 more	GUncertain significance
Select item 2928152	NM_032415.7(CARD11):c.1996G>A (p.Val666Met)	CARD11 (V666M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GUncertain significance
Select item 2161120	NM_032415.7(CARD11):c.1979G>A (p.Arg660Gln)	CARD11 (R660Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2561815	NM_032415.7(CARD11):c.1974C>A (p.His658Gln)	CARD11 (H658Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618842	NM_032415.7(CARD11):c.1923G>C (p.Arg641Ser)	CARD11 (R641S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263297	NM_032415.7(CARD11):c.1894G>A (p.Asp632Asn)	CARD11 (D632N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137294	NM_032415.7(CARD11):c.1822C>T (p.Arg608Cys)	CARD11 (R608C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2130696	NM_032415.7(CARD11):c.1691C>T (p.Thr564Ile)	CARD11 (T564I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2384399	NM_032415.7(CARD11):c.1609A>G (p.Ser537Gly)	CARD11 (S537G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471506	NM_032415.7(CARD11):c.1606C>G (p.Pro536Ala)	CARD11 (P536A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3137293	NM_032415.7(CARD11):c.1601C>A (p.Ala534Asp)	CARD11 (A534D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053326	NM_032415.7(CARD11):c.1600G>A (p.Ala534Thr)	CARD11 (A534T)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity
Select item 2056504	NM_032415.7(CARD11):c.1373T>C (p.Ile458Thr)	CARD11 (I458T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GUncertain significance
Select item 2310833	NM_032415.7(CARD11):c.1253G>C (p.Arg418Thr)	CARD11 (R418T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199893	NM_032415.7(CARD11):c.1145C>A (p.Ala382Asp)	CARD11 (A382D)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GUncertain significance
Select item 3263295	NM_032415.7(CARD11):c.973A>G (p.Asn325Asp)	CARD11 (N325D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310917	NM_032415.7(CARD11):c.894C>A (p.Asp298Glu)	CARD11 (D298E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 944362	NM_032415.7(CARD11):c.715A>G (p.Met239Val)	CARD11 (M239V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2620633	NM_032415.7(CARD11):c.694C>G (p.Leu232Val)	CARD11 (L232V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284060	NM_032415.7(CARD11):c.668G>A (p.Arg223Gln)	CARD11, CARD11-AS1 (R223Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016705	NM_032415.7(CARD11):c.511G>A (p.Val171Met)	CARD11, CARD11-AS1 (V171M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GLikely benign
Select item 2262243	NM_032415.7(CARD11):c.426G>A (p.Met142Ile)	CARD11, CARD11-AS1 (M142I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137297	NM_032415.7(CARD11):c.403G>T (p.Val135Phe)	CARD11, CARD11-AS1 (V135F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1184835	NM_032415.7(CARD11):c.358+1G>A	CARD11, CARD11-AS1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3263296	NM_032415.7(CARD11):c.115C>G (p.Pro39Ala)	CARD11 (P39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1037496	NM_032415.7(CARD11):c.95T>C (p.Met32Thr)	CARD11 (M32T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GUncertain significance

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Items: 45