"ITMI"[submitter] AND "CARD11"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133803	NM_032415.7(CARD11):c.3454G>A (p.Asp1152Asn)	CARD11 (D1152N)	Single nucleotide variant (missense variant)	BENTA disease +3 more	GLikely benign
Select item 133802	NM_032415.7(CARD11):c.3139G>A (p.Ala1047Thr)	CARD11 (A1047T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 133800	NM_032415.7(CARD11):c.3059C>T (p.Thr1020Met)	CARD11 (T1020M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 133801	NM_032415.7(CARD11):c.3025G>A (p.Val1009Ile)	CARD11 (V1009I)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 133799	NM_032415.7(CARD11):c.2641A>G (p.Ser881Gly)	CARD11 (S881G)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GBenign
Select item 133798	NM_032415.7(CARD11):c.2395G>A (p.Asp799Asn)	CARD11 (D799N)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 133797	NM_032415.7(CARD11):c.2298G>T (p.Glu766Asp)	CARD11 (E766D)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
Select item 133796	NM_032415.7(CARD11):c.2242A>G (p.Thr748Ala)	CARD11 (T748A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 133795	NM_032415.7(CARD11):c.2120G>A (p.Arg707His)	CARD11 (R707H)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
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 133794	NM_032415.7(CARD11):c.2074G>A (p.Val692Met)	CARD11 (V692M)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
Select item 133791	NM_032415.7(CARD11):c.2060C>T (p.Ala687Val)	CARD11 (A687V)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GLikely benign
Select item 133793	NM_032415.7(CARD11):c.1975G>A (p.Val659Met)	CARD11 (V659M)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
Select item 133790	NM_032415.7(CARD11):c.1823G>A (p.Arg608His)	CARD11 (R608H)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
Select item 133789	NM_032415.7(CARD11):c.1741G>A (p.Ala581Thr)	CARD11 (A581T)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GBenign
Select item 133785	NM_032415.7(CARD11):c.1630A>C (p.Ile544Leu)	CARD11 (I544L)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 133788	NM_032415.7(CARD11):c.1610G>C (p.Ser537Thr)	CARD11 (S537T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GLikely benign
Select item 133787	NM_032415.7(CARD11):c.1595C>T (p.Thr532Met)	CARD11 (T532M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 133784	NM_032415.7(CARD11):c.1590A>C (p.Glu530Asp)	CARD11 (E530D)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GBenign
Select item 133786	NM_032415.7(CARD11):c.1581C>A (p.His527Gln)	CARD11 (H527Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GLikely benign
Select item 133806	NM_032415.7(CARD11):c.1262T>C (p.Met421Thr)	CARD11 (M421T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 133805	NM_032415.7(CARD11):c.590T>C (p.Val197Ala)	CARD11, CARD11-AS1 (V197A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133804	NM_032415.7(CARD11):c.572A>G (p.Asn191Ser)	CARD11, CARD11-AS1 (N191S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 23